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Entry
- #301000 - WISKOTT-ALDRICH SYNDROME; WAS
- OMIM
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<span class="h4">#301000</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/301000"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS300755"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#history">History</a>
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<a href="#references"><strong>References</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=WISKOTT-ALDRICH SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
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</a>
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</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:9169" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/301000" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:301000" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
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</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 36070007<br />
<strong>ICD10CM:</strong> D82.0<br />
<strong>ICD9CM:</strong> 279.12<br />
<strong>ORPHA:</strong> 906<br />
<strong>DO:</strong> 9169<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
301000
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
WISKOTT-ALDRICH SYNDROME; WAS
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
WISKOTT-ALDRICH SYNDROME 1; WAS1<br />
ALDRICH SYNDROME<br />
ECZEMA-THROMBOCYTOPENIA-IMMUNODEFICIENCY SYNDROME<br />
IMMUNODEFICIENCY 2; IMD2
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/253?start=-3&limit=10&highlight=253">
Xp11.23
</a>
</span>
</td>
<td>
<span class="mim-font">
Wiskott-Aldrich syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301000"> 301000 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
WAS
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300392"> 300392 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/301000" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS300755" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/301000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/301000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Sinusitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36971009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36971009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J32</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037199&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037199</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000246" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000246</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000246" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000246</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Otitis media <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65363002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65363002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H66.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H66.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H66.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H66.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/382.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">382.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029882&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029882</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000388" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000388</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000388" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000388</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Epistaxis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249366005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249366005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R04.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R04.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/784.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014591&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014591</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000421" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000421</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000421" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000421</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Oral bleeding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22490002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22490002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029163&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029163</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040184" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040184</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040184" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040184</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Airways </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Upper respiratory tract infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54150009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54150009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195708003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195708003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J06.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J06.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0581381&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0581381</a>, <a href="https://bioportal.bioontology.org/search?q=C0041912&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041912</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002788" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002788</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002788" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002788</a>]</span><br /> -
Lower respiratory tract infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50417007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50417007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149725&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149725</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002783" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002783</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002783" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002783</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Lung </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pneumonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/233604007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">233604007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0032285&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0032285</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002090" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002090</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002090" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002090</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Diarrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267060006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267060006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62315008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62315008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R19.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R19.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011991</a>, <a href="https://bioportal.bioontology.org/search?q=C2169706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2169706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span><br /> -
Hematemesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8765009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8765009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K92.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K92.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/578.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">578.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018926&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018926</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002248" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002248</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002248" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002248</a>]</span><br /> -
Melena <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/2901004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">2901004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K92.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K92.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025222&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025222</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002249</a>]</span><br /> -
Inflammatory bowel disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/24526004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">24526004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0021390&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0021390</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002037" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002037</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002037" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002037</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Nephropathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90708001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90708001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N28.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N28.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N08" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N08</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022658&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022658</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000112" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000112</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000112" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000112</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Eczema <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43116000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43116000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L30.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L30.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013595&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013595</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000964" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000964</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000964" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000964</a>]</span><br /> -
Petechiae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271813007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271813007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50091001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50091001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/423716004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">423716004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R23.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R23.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241144&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241144</a>, <a href="https://bioportal.bioontology.org/search?q=C0031256&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031256</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000967" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000967</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000967" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000967</a>]</span><br /> -
Purpura <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12393003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12393003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/387778001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">387778001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3463943&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3463943</a>, <a href="https://bioportal.bioontology.org/search?q=C0034150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034150</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000979" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000979</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000979" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000979</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Meningitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7180009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7180009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G03.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G03.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/322.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">322.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">322</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025289&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025289</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001287" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001287</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001287" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001287</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEMATOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Thrombocytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415116008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302215000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302215000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/287.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">287.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392386</a>, <a href="https://bioportal.bioontology.org/search?q=C0040034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span><br /> -
Small platelets size <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833182&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833182</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005537</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005537</a>]</span><br /> -
Hemolytic anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61261009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61261009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D55-D59" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D55-D59</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002878&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002878</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001878</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001878</a>]</span><br /> -
Small and large vessel vasculitis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833184&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833184</a>]</span><br /> -
Iron deficiency anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87522002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87522002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D50</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">280</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/280.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">280.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162316&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162316</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001891" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001891</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001891" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001891</a>]</span><br /> -
CD43 (sialophorin) defectively expressed on surface of blood cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833183&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833183</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001983" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001983</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> IMMUNOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Moderately depressed antibody response to polysaccharide antigens <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833171&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833171</a>]</span><br /> -
Lymphopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48813009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48813009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.810" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.810</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/288.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853986&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853986</a>, <a href="https://bioportal.bioontology.org/search?q=C0024312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024312</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001888" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001888</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001888" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001888</a>]</span><br /> -
Abnormal delayed hypersensitivity skin test <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833172&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833172</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002963" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002963</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002963" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002963</a>]</span><br /> -
Absent microvilli on the surface of peripheral blood lymphocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833173&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833173</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002971" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002971</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002971" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002971</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Prolonged bleeding time <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R79.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R79.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151529&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151529</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003010</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003010</a>]</span><br /> -
Normal IgG levels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833177&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833177</a>]</span><br /> -
Increased IgA levels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239984&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239984</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003261" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003261</a>]</span><br /> -
Increased IgE levels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0236175&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0236175</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003212</a>]</span><br /> -
Reduced IgM levels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239989&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239989</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002850" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002850</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002850" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002850</a>]</span><br /> -
Raised ESR <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165468009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165468009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R70.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R70.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/790.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">790.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003565" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003565</a>]</span><br /> -
Raised CRP <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833181&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833181</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the WASP actin nucleation promoting factor gene (WAS, <a href="/entry/300392#0001">300392.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Immunodeficiency (select examples)
- <a href="/phenotypicSeries/PS300755">PS300755</a>
- 143 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/25?start=-3&limit=10&highlight=25"> 1p36.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616126"> Immunodeficiency 38 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616126"> 616126 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147571"> ISG15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147571"> 147571 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/31?start=-3&limit=10&highlight=31"> 1p36.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615593"> ?Immunodeficiency 16 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615593"> 615593 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600315"> TNFRSF4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600315"> 600315 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/114?start=-3&limit=10&highlight=114"> 1p36.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620282"> Immunodeficiency 109 with lymphoproliferation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620282"> 620282 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602250"> TNFRSF9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602250"> 602250 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/128?start=-3&limit=10&highlight=128"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619281"> Immunodeficiency 14B, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619281"> 619281 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602839"> PIK3CD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602839"> 602839 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/128?start=-3&limit=10&highlight=128"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615513"> Immunodeficiency 14A, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615513"> 615513 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602839"> PIK3CD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602839"> 602839 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/397?start=-3&limit=10&highlight=397"> 1p35.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615758"> Immunodeficiency 22 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615758"> 615758 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/153390"> LCK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/153390"> 153390 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/497?start=-3&limit=10&highlight=497"> 1p34.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615897"> Immunodeficiency 24 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615897"> 615897 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123860"> CTPS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123860"> 123860 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/763?start=-3&limit=10&highlight=763"> 1p22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616098"> ?Immunodeficiency 37 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616098"> 616098 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603517"> BCL10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603517"> 603517 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1109?start=-3&limit=10&highlight=1109"> 1q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616622"> Immunodeficiency 42 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616622"> 616622 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602943"> RORC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602943"> 602943 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1353?start=-3&limit=10&highlight=1353"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615707"> Immunodeficiency 20 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615707"> 615707 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146740"> FCGR3A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146740"> 146740 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1386?start=-3&limit=10&highlight=1386"> 1q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610163"> ?Immunodeficiency 25 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610163"> 610163 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186780"> CD247 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186780"> 186780 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1491?start=-3&limit=10&highlight=1491"> 1q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620565"> Immunodeficiency 113 with autoimmunity and autoinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620565"> 620565 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604227"> ARPC5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604227"> 604227 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1501?start=-3&limit=10&highlight=1501"> 1q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618969"> Immunodeficiency 70 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618969"> 618969 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609209"> IVNS1ABP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609209"> 609209 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1541?start=-3&limit=10&highlight=1541"> 1q31.3-q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619924"> Immunodeficiency 105, severe combined </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619924"> 619924 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/151460"> PTPRC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/151460"> 151460 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/277?start=-3&limit=10&highlight=277"> 2p16.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619652"> Immunodeficiency 92 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619652"> 619652 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164910"> REL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164910"> 164910 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/446?start=-3&limit=10&highlight=446"> 2p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608957"> Immunodeficiency 116 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608957"> 608957 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186910"> CD8A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186910"> 186910 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/491?start=-3&limit=10&highlight=491"> 2q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/269840"> Immunodeficiency 48 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/269840"> 269840 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176947"> ZAP70 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176947"> 176947 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/727?start=-3&limit=10&highlight=727"> 2q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619773"> Immunodeficiency 95 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619773"> 619773 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606951"> IFIH1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606951"> 606951 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/872?start=-3&limit=10&highlight=872"> 2q32.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614162"> Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614162"> 614162 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600555"> STAT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600555"> 600555 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/872?start=-3&limit=10&highlight=872"> 2q32.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614892"> Immunodeficiency 31A, mycobacteriosis, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614892"> 614892 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600555"> STAT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600555"> 600555 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/872?start=-3&limit=10&highlight=872"> 2q32.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613796"> Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613796"> 613796 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600555"> STAT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600555"> 600555 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/933?start=-3&limit=10&highlight=933"> 2q33.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620901"> ?Immunodeficiency 123 with HPV-related verrucosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620901"> 620901 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186760"> CD28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186760"> 186760 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1028?start=-3&limit=10&highlight=1028"> 2q35 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611291"> Immunodeficiency 124, severe combined </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611291"> 611291 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611290"> NHEJ1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611290"> 611290 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/174?start=-3&limit=10&highlight=174"> 3p22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612260"> Immunodeficiency 68 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612260"> 612260 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602170"> MYD88 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602170"> 602170 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/651?start=-3&limit=10&highlight=651"> 3q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614172"> Immunodeficiency 21 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614172"> 614172 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137295"> GATA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137295"> 137295 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/659?start=-3&limit=10&highlight=659"> 3q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620983"> ?Immunodeficiency 128 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620983"> 620983 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615525"> COPG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615525"> 615525 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/990?start=-3&limit=10&highlight=990"> 3q29 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616740"> Immunodeficiency 46 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616740"> 616740 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190010"> TFRC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190010"> 190010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/167?start=-3&limit=10&highlight=167"> 4p14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618307"> Immunodeficiency 129 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618307"> 618307 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602037"> RHOH </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602037"> 602037 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/458?start=-3&limit=10&highlight=458"> 4q24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619126"> Immunodeficiency 75 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619126"> 619126 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612839"> TET2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612839"> 612839 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/723?start=-3&limit=10&highlight=723"> 4q35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613002"> {Immunodeficiency 83, susceptibility to viral infections} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613002"> 613002 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603029"> TLR3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603029"> 603029 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/59?start=-3&limit=10&highlight=59"> 5p15.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619986"> {Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619986"> 619986 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615712"> OTULIN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615712"> 615712 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/106?start=-3&limit=10&highlight=106"> 5p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608971"> Immunodeficiency 104, severe combined </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608971"> 608971 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146661"> IL7R </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146661"> 146661 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/177?start=-3&limit=10&highlight=177"> 5q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619750"> ?Immunodeficiency 94 with autoinflammation and dysmorphic facies </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619750"> 619750 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600694"> IL6ST </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600694"> 600694 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/218?start=-3&limit=10&highlight=218"> 5q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616005"> Immunodeficiency 36 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616005"> 616005 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/171833"> PIK3R1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/171833"> 171833 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/440?start=-3&limit=10&highlight=440"> 5q31.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619705"> Immunodeficiency 93 and hypertrophic cardiomyopathy </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619705"> 619705 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610594"> FNIP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610594"> 610594 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/449?start=-3&limit=10&highlight=449"> 5q31.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620668"> Immunodeficiency 117, mycobacteriosis, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620668"> 620668 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147575"> IRF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147575"> 147575 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/721?start=-3&limit=10&highlight=721"> 5q33.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614890"> Immunodeficiency 29, mycobacteriosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614890"> 614890 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/161561"> IL12B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/161561"> 161561 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/750?start=-3&limit=10&highlight=750"> 5q35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616433"> Immunodeficiency 40 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616433"> 616433 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603122"> DOCK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603122"> 603122 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/752?start=-3&limit=10&highlight=752"> 5q35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619374"> Immunodeficiency 81 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619374"> 619374 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601603"> LCP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601603"> 601603 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/7?start=-3&limit=10&highlight=7"> 6p25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621097"> Immunodeficiency 131 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621097"> 621097 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601900"> IRF4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601900"> 601900 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/20?start=-3&limit=10&highlight=20"> 6p25.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618108"> Immunodeficiency 57 with autoinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618108"> 618108 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603453"> RIPK1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603453"> 603453 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/311?start=-3&limit=10&highlight=311"> 6p21.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620977"> ?Immunodeficiency 127 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620977"> 620977 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191160"> TNF </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191160"> 191160 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/425?start=-3&limit=10&highlight=425"> 6p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619573"> Immunodeficiency 87 and autoimmunity </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619573"> 619573 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610094"> DEF6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610094"> 610094 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/506?start=-3&limit=10&highlight=506"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620931"> Immunodeficiency 126 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620931"> 620931 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606817"> PTCRA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606817"> 606817 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/675?start=-3&limit=10&highlight=675"> 6q14.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615816"> Immunodeficiency 23 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615816"> 615816 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/172100"> PGM3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/172100"> 172100 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/710?start=-3&limit=10&highlight=710"> 6q15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618394"> Immunodeficiency 60 and autoimmunity </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618394"> 618394 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605394"> BACH2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605394"> 605394 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/893?start=-3&limit=10&highlight=893"> 6q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/209950"> Immunodeficiency 27A, mycobacteriosis, AR </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/209950"> 209950 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107470"> IFNGR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107470"> 107470 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/893?start=-3&limit=10&highlight=893"> 6q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615978"> Immunodeficiency 27B, mycobacteriosis, AD </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615978"> 615978 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107470"> IFNGR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107470"> 107470 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/33?start=-3&limit=10&highlight=33"> 7p22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617638"> Immunodeficiency 11B with atopic dermatitis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617638"> 617638 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607210"> CARD11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607210"> 607210 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/33?start=-3&limit=10&highlight=33"> 7p22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615206"> Immunodeficiency 11A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615206"> 615206 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607210"> CARD11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607210"> 607210 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/461?start=-3&limit=10&highlight=461"> 7q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617718"> Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617718"> 617718 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604223"> ARPC1B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604223"> 604223 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/571?start=-3&limit=10&highlight=571"> 7q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619802"> Immunodeficiency 97 with autoinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619802"> 619802 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601232"> PIK3CG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601232"> 601232 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/232?start=-3&limit=10&highlight=232"> 8p11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618204"> Immunodeficiency 15A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618204"> 618204 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603258"> IKBKB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603258"> 603258 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/232?start=-3&limit=10&highlight=232"> 8p11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615592"> Immunodeficiency 15B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615592"> 615592 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603258"> IKBKB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603258"> 603258 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/253?start=-3&limit=10&highlight=253"> 8q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615966"> Immunodeficiency 26, with or without neurologic abnormalities </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615966"> 615966 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600899"> PRKDC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600899"> 600899 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/254?start=-3&limit=10&highlight=254"> 8q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609981"> Immunodeficiency 54 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609981"> 609981 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602638"> MCM4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602638"> 602638 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/358?start=-3&limit=10&highlight=358"> 8q21.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618309"> Immunodeficiency 130 with HPV-related verrucosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618309"> 618309 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146660"> IL7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146660"> 146660 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/297?start=-3&limit=10&highlight=297"> 9q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619381"> Immunodeficiency 82 with systemic inflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619381"> 619381 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600085"> SYK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600085"> 600085 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/650?start=-3&limit=10&highlight=650"> 9q34.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/212050"> Immunodeficiency 103, susceptibility to fungal infection </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/212050"> 212050 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607212"> CARD9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607212"> 607212 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/35?start=-3&limit=10&highlight=35"> 10p15.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606367"> Immunodeficiency 41 with lymphoproliferation and autoimmunity </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606367"> 606367 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147730"> IL2RA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147730"> 147730 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/62?start=-3&limit=10&highlight=62"> 10p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619313"> Immunodeficiency 80 with or without cardiomyopathy </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619313"> 619313 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609357"> MCM10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609357"> 609357 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/33?start=-3&limit=10&highlight=33"> 11p15.5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616345"> ?Immunodeficiency 39 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616345"> 616345 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605047"> IRF7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605047"> 605047 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/103?start=-3&limit=10&highlight=103"> 11p15.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612783"> Immunodeficiency 10 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612783"> 612783 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605921"> STIM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605921"> 605921 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/415?start=-3&limit=10&highlight=415"> 11q12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619223"> Immunodeficiency 77 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619223"> 619223 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610390"> MPEG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610390"> 610390 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/703?start=-3&limit=10&highlight=703"> 11q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613759"> Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613759"> 613759 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602457"> FADD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602457"> 602457 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/748?start=-3&limit=10&highlight=748"> 11q13.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620869"> Immunodeficiency 122 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620869"> 620869 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611415"> POLD3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611415"> 611415 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/981?start=-3&limit=10&highlight=981"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615615"> Immunodeficiency 18 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615615"> 615615 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186830"> CD3E </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186830"> 186830 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/981?start=-3&limit=10&highlight=981"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615615"> Immunodeficiency 18, SCID variant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615615"> 615615 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186830"> CD3E </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186830"> 186830 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/982?start=-3&limit=10&highlight=982"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615617"> Immunodeficiency 19, severe combined </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615617"> 615617 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186790"> CD3D </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186790"> 186790 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/983?start=-3&limit=10&highlight=983"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615607"> Immunodeficiency 17, CD3 gamma deficient </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615607"> 615607 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186740"> CD3G </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186740"> 186740 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/1002?start=-3&limit=10&highlight=1002"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/233600"> ?Immunodeficiency 59 and hypoglycemia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/233600"> 233600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601746"> HYOU1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601746"> 601746 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/70?start=-3&limit=10&highlight=70"> 12p13.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619238"> Immunodeficiency 79 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619238"> 619238 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186940"> CD4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186940"> 186940 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/300?start=-3&limit=10&highlight=300"> 12q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607676"> Immunodeficiency 67 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607676"> 607676 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606883"> IRAK4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606883"> 606883 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/470?start=-3&limit=10&highlight=470"> 12q13.13-q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618982"> Immunodeficiency 72 with autoinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618982"> 618982 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/141180"> NCKAP1L </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/141180"> 141180 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/512?start=-3&limit=10&highlight=512"> 12q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616636"> Immunodeficiency 44 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616636"> 616636 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600556"> STAT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600556"> 600556 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/598?start=-3&limit=10&highlight=598"> 12q15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618963"> ?Immunodeficiency 69, mycobacteriosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618963"> 618963 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147570"> IFNG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147570"> 147570 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/825?start=-3&limit=10&highlight=825"> 12q24.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618042"> Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618042"> 618042 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164350"> OAS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164350"> 164350 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/895?start=-3&limit=10&highlight=895"> 12q24.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612782"> Immunodeficiency 9 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612782"> 612782 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610277"> ORAI1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610277"> 610277 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/294?start=-3&limit=10&highlight=294"> 13q33.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619220"> Immunodeficiency 78 with autoimmunity and developmental delay </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619220"> 619220 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190470"> TPP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190470"> 190470 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/61?start=-3&limit=10&highlight=61"> 14q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615387"> Immunodeficiency 7, TCR-alpha/beta deficient </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615387"> 615387 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186880"> TRAC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186880"> 186880 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/79?start=-3&limit=10&highlight=79"> 14q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/260570"> ?Immunodeficiency 108 with autoinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/260570"> 260570 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600749"> CEBPE </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600749"> 600749 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/116?start=-3&limit=10&highlight=116"> 14q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620632"> Immunodeficiency 115 with autoinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620632"> 620632 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612487"> RNF31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612487"> 612487 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/117?start=-3&limit=10&highlight=117"> 14q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618648"> Immunodeficiency 65, susceptibility to viral infections </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618648"> 618648 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147574"> IRF9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147574"> 147574 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/515?start=-3&limit=10&highlight=515"> 14q32.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617237"> Immunodeficiency 49, severe combined </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617237"> 617237 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606558"> BCL11B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606558"> 606558 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/567?start=-3&limit=10&highlight=567"> 14q32.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621096"> Immunodeficiency 132B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621096"> 621096 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601896"> TRAF3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601896"> 601896 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/567?start=-3&limit=10&highlight=567"> 14q32.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614849"> Immunodeficiency 132A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614849"> 614849 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601896"> TRAF3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601896"> 601896 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/85?start=-3&limit=10&highlight=85"> 15q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618534"> Immunodeficiency 64 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618534"> 618534 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603962"> RASGRP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603962"> 603962 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/170?start=-3&limit=10&highlight=170"> 15q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/241600"> Immunodeficiency 43 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/241600"> 241600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/109700"> B2M </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/109700"> 109700 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/209?start=-3&limit=10&highlight=209"> 15q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619549"> Immunodeficiency 86, mycobacteriosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619549"> 619549 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608238"> SPPL2A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608238"> 608238 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/295?start=-3&limit=10&highlight=295"> 16p12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615207"> Immunodeficiency 56 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615207"> 615207 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605383"> IL21R </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605383"> 605383 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/321?start=-3&limit=10&highlight=321"> 16p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617514"> Immunodeficiency 52 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617514"> 617514 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602354"> LAT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602354"> 602354 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/348?start=-3&limit=10&highlight=348"> 16p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615401"> Immunodeficiency 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615401"> 615401 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605000"> CORO1A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605000"> 605000 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/553?start=-3&limit=10&highlight=553"> 16q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618131"> Immunodeficiency 58 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618131"> 618131 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610859"> CARMIL2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610859"> 610859 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/566?start=-3&limit=10&highlight=566"> 16q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620807"> Immunodeficiency 121 with autoinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620807"> 620807 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176847"> PSMB10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176847"> 176847 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/711?start=-3&limit=10&highlight=711"> 16q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614893"> Immunodeficiency 32A, mycobacteriosis, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614893"> 614893 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601565"> IRF8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601565"> 601565 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/711?start=-3&limit=10&highlight=711"> 16q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/226990"> Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/226990"> 226990 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601565"> IRF8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601565"> 601565 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/340?start=-3&limit=10&highlight=340"> 17q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615518"> ?Immunodeficiency 13 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615518"> 615518 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604011"> UNC119 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604011"> 604011 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/494?start=-3&limit=10&highlight=494"> 17q12-q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619437"> ?Immunodeficiency 84 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619437"> 619437 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606221"> IKZF3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606221"> 606221 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/658?start=-3&limit=10&highlight=658"> 17q21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620449"> Immunodeficiency 112 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620449"> 620449 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604655"> MAP3K14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604655"> 604655 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/678?start=-3&limit=10&highlight=678"> 17q21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619630"> ?Immunodeficiency 88 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619630"> 619630 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604895"> TBX21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604895"> 604895 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/212?start=-3&limit=10&highlight=212"> 18q21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615468"> Immunodeficiency 12 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615468"> 615468 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604860"> MALT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604860"> 604860 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/145?start=-3&limit=10&highlight=145"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620331"> Hatipoglu immunodeficiency syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620331"> 620331 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608258"> DPP9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608258"> 608258 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/270?start=-3&limit=10&highlight=270"> 19p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611521"> Immunodeficiency 35 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611521"> 611521 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176941"> TYK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176941"> 176941 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/444?start=-3&limit=10&highlight=444"> 19p13.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619164"> Immunodeficiency 76 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619164"> 619164 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613437"> FCHO1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613437"> 613437 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/451?start=-3&limit=10&highlight=451"> 19p13.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614891"> Immunodeficiency 30 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614891"> 614891 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601604"> IL12RB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601604"> 601604 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/743?start=-3&limit=10&highlight=743"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618459"> ?Immunodeficiency 62 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618459"> 618459 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601855"> ARHGEF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601855"> 601855 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/808?start=-3&limit=10&highlight=808"> 19q13.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617585"> ?Immunodeficiency 53 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617585"> 617585 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604758"> RELB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604758"> 604758 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/888?start=-3&limit=10&highlight=888"> 19q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619774"> Immunodeficiency 96 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619774"> 619774 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/126391"> LIG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/126391"> 126391 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/947?start=-3&limit=10&highlight=947"> 19q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620926"> ?Immunodeficiency 125 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620926"> 620926 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600007"> FLT3LG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600007"> 600007 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/981?start=-3&limit=10&highlight=981"> 19q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620836"> Immunodeficiency 120 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620836"> 620836 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/174761"> POLD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/174761"> 174761 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/124?start=-3&limit=10&highlight=124"> 20p11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619872"> ?Immunodeficiency 101 (varicella zoster virus-specific) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619872"> 619872 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617455"> POLR3F </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617455"> 617455 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/169?start=-3&limit=10&highlight=169"> 20p11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617827"> Immunodeficiency 55 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617827"> 617827 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610608"> GINS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610608"> 610608 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/271?start=-3&limit=10&highlight=271"> 20q11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619846"> ?Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619846"> 619846 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611537"> CTNNBL1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611537"> 611537 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/321?start=-3&limit=10&highlight=321"> 20q13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614868"> T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614868"> 614868 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604965"> STK4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604965"> 604965 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/373?start=-3&limit=10&highlight=373"> 20q13.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619644"> Immunodeficiency 91 and hyperinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619644"> 619644 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618931"> ZNFX1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618931"> 618931 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/66?start=-3&limit=10&highlight=66"> 21q22.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616669"> Immunodeficiency 45 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616669"> 616669 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602376"> IFNAR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602376"> 602376 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/68?start=-3&limit=10&highlight=68"> 21q22.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619935"> Immunodeficiency 106, susceptibility to viral infections </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619935"> 619935 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107450"> IFNAR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107450"> 107450 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/69?start=-3&limit=10&highlight=69"> 21q22.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614889"> Immunodeficiency 28, mycobacteriosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614889"> 614889 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147569"> IFNGR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147569"> 147569 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/155?start=-3&limit=10&highlight=155"> 21q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620825"> ?Immunodeficiency 119 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620825"> 620825 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605717"> ICOSLG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605717"> 605717 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/172?start=-3&limit=10&highlight=172"> 21q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620603"> Immunodeficiency 114, folate-responsive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620603"> 620603 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600424"> SLC19A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600424"> 600424 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/9?start=-3&limit=10&highlight=9"> 22q11.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613953"> Immunodeficiency 51 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613953"> 613953 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605461"> IL17RA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605461"> 605461 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/210?start=-3&limit=10&highlight=210"> 22q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619510"> ?Immunodeficiency 85 and autoimmunity </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619510"> 619510 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604700"> TOM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604700"> 604700 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/236?start=-3&limit=10&highlight=236"> 22q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618495"> Immunodeficiency 63 with lymphoproliferation and autoimmunity </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618495"> 618495 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146710"> IL2RB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146710"> 146710 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/243?start=-3&limit=10&highlight=243"> 22q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618986"> Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618986"> 618986 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602049"> RAC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602049"> 602049 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/243?start=-3&limit=10&highlight=243"> 22q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608203"> Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608203"> 608203 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602049"> RAC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602049"> 602049 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/243?start=-3&limit=10&highlight=243"> 22q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618987"> ?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618987"> 618987 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602049"> RAC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602049"> 602049 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/247?start=-3&limit=10&highlight=247"> 22q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619632"> ?Immunodeficiency 89 and autoimmunity </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619632"> 619632 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607209"> CARD10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607209"> 607209 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/308?start=-3&limit=10&highlight=308"> 22q13.1-q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618847"> ?Immunodeficiency 66 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618847"> 618847 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606078"> MKL1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606078"> 606078 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/61?start=-3&limit=10&highlight=61"> Xp22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301051"> Immunodeficiency 74, COVID19-related, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301051"> 301051 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300365"> TLR7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300365"> 300365 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/62?start=-3&limit=10&highlight=62"> Xp22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301078"> Immunodeficiency 98 with autoinflammation, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Somatic mosaicism">SMo</abbr>, <abbr class="mim-tip-hint" title="X-linked">XL</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301078"> 301078 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300366"> TLR8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300366"> 300366 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/106?start=-3&limit=10&highlight=106"> Xp22.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300310"> ?Immunodeficiency 61 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300310"> 300310 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300374"> SH3KBP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300374"> 300374 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/157?start=-3&limit=10&highlight=157"> Xp21.1-p11.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300645"> Immunodeficiency 34, mycobacteriosis, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300645"> 300645 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300481"> CYBB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300481"> 300481 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/253?start=-3&limit=10&highlight=253"> Xp11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301000"> Wiskott-Aldrich syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301000"> 301000 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300392"> WAS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300392"> 300392 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/373?start=-3&limit=10&highlight=373"> Xq12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300988"> Immunodeficiency 50 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300988"> 300988 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/309845"> MSN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/309845"> 309845 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/403?start=-3&limit=10&highlight=403"> Xq13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312863"> Combined immunodeficiency, X-linked, moderate </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312863"> 312863 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308380"> IL2RG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308380"> 308380 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/403?start=-3&limit=10&highlight=403"> Xq13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300400"> Severe combined immunodeficiency, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300400"> 300400 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308380"> IL2RG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308380"> 308380 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/500?start=-3&limit=10&highlight=500"> Xq22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300755"> Agammaglobulinemia, X-linked 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300755"> 300755 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300300"> BTK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300300"> 300300 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/629?start=-3&limit=10&highlight=629"> Xq24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301115"> Immunodeficiency 118, mycobacteriosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301115"> 301115 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300587"> MCTS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300587"> 300587 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/655?start=-3&limit=10&highlight=655"> Xq25 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308240"> Lymphoproliferative syndrome, X-linked, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308240"> 308240 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300490"> SH2D1A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300490"> 300490 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/670?start=-3&limit=10&highlight=670"> Xq26.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301082"> Immunodeficiency 102 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301082"> 301082 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300441"> SASH3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300441"> 300441 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/724?start=-3&limit=10&highlight=724"> Xq26.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308230"> Immunodeficiency, X-linked, with hyper-IgM </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308230"> 308230 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300386"> TNFSF5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300386"> 300386 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/862?start=-3&limit=10&highlight=862"> Xq28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300972"> Immunodeficiency 47 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300972"> 300972 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300197"> ATP6AP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300197"> 300197 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/871?start=-3&limit=10&highlight=871"> Xq28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300636"> Immunodeficiency 33 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300636"> 300636 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300248"> IKBKG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300248"> 300248 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<p>A number sign (#) is used with this entry because Wiskott-Aldrich syndrome (WAS) is caused by mutation in the WAS gene (<a href="/entry/300392">300392</a>) on chromosome Xp11.</p>
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<p>Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections (<a href="#47" class="mim-tip-reference" title="Lemahieu, V., Gastier, J. M., Francke, U. &lt;strong&gt;Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.&lt;/strong&gt; Hum. Mutat. 14: 54-66, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10447259/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10447259&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(1999)14:1&lt;54::AID-HUMU7&gt;3.0.CO;2-E&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10447259">Lemahieu et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10447259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Wiskott-Aldrich Syndrome</em></strong></p><p>
See Wiskott-Aldrich syndrome-2 (WAS2; <a href="/entry/614493">614493</a>), caused by mutation in the WIPF1 gene (<a href="/entry/602357">602357</a>). Also see <a href="/entry/600903">600903</a> for a possible autosomal dominant form of the disorder.</p>
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<p>The manifestations of Wiskott-Aldrich syndrome are eczema, thrombocytopenia, proneness to infection, and bloody diarrhea. Death usually occurs before age 10 years. The original American kindred reported by <a href="#3" class="mim-tip-reference" title="Aldrich, R. A., Steinberg, A. G., Campbell, D. C. &lt;strong&gt;Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea.&lt;/strong&gt; Pediatrics 13: 133-139, 1954.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13133561/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13133561&lt;/a&gt;]" pmid="13133561">Aldrich et al. (1954)</a> was of Dutch extraction; the 3 patients of <a href="#94" class="mim-tip-reference" title="Wiskott, A. &lt;strong&gt;Familiarer, angeborener Morbus Werlhofii?&lt;/strong&gt; Mschr. Kinderheilk. 68: 212-216, 1937."None>Wiskott (1937)</a> were German. Wiskott, who worked in Munich, referred to the disorder in his patients as 'Werlhof's disease,' the eponymic designation for thrombocytopenic purpura. <a href="#85" class="mim-tip-reference" title="Van den Bosch, J., Drukker, J. &lt;strong&gt;Het Syndroom van Aldrich: een klinisch en genetisch Onderzoek van enige nederlandse Families.&lt;/strong&gt; Maandschr. Kindergeneesk. 32: 359-373, 1964.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14228682/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14228682&lt;/a&gt;]" pmid="14228682">Van den Bosch and Drukker (1964)</a> described several families in the Netherlands. In 3 of 5 female carriers, the platelet count was below the lower limit of normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14228682+13133561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#64" class="mim-tip-reference" title="Perry, G. S., III, Spector, B. D., Schuman, L. M., Mandel, J. S., Anderson, V. E., McHugh, R. B., Hanson, M. R., Fahlstrom, S. M., Krivit, W., Kersey, J. H. &lt;strong&gt;The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979).&lt;/strong&gt; J. Pediat. 97: 72-78, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7381651/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7381651&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(80)80133-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7381651">Perry et al. (1980)</a> reported that median survival increased from 8 months for patients born before 1935 to 6.5 years for those born after 1964. One patient had survived to age 36 years at the time of the survey. Causes of death were mainly infections or bleeding, but 36 of the 301 patients (12%) developed malignancies: lymphoreticular tumors in 23 and leukemia in 7. <a href="#82" class="mim-tip-reference" title="ten Bensel, R. W., Stadlan, E. M., Krivit, W. &lt;strong&gt;The development of malignancy in the course of the Aldrich syndrome.&lt;/strong&gt; J. Pediat. 68: 761-767, 1966.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5948738/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5948738&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(66)80450-x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5948738">Ten Bensel et al. (1966)</a> called attention to the occurrence of malignancy of the reticuloendothelial system, which they saw in 2 of 4 sibs and found in 5 reported cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5948738+7381651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Capsoni, F., Acerbi, L., Bonora, G., Perletti, L., Ongari, A. M., Vanoli, M., Zanussi, C. &lt;strong&gt;Phagocyte function and immunological findings in a Wiskott-Aldrich syndrome long-term survivor.&lt;/strong&gt; J. Lab. Clin. Immun. 19: 91-97, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3754288/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3754288&lt;/a&gt;]" pmid="3754288">Capsoni et al. (1986)</a> described a 19-year-old man with WAS. Only 7 affected persons over age 18 had been described previously. <a href="#78" class="mim-tip-reference" title="Standen, G. R., Lillicrap, D. P., Matthews, N., Bloom, A. L. &lt;strong&gt;Inherited thrombocytopenia, elevated serum IgA and renal disease: identification as a variant of the Wiskott-Aldrich syndrome.&lt;/strong&gt; Quart. J. Med. 59: 401-408, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3749445/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3749445&lt;/a&gt;]" pmid="3749445">Standen et al. (1986)</a> reported a kindred with 13 males in 6 sibships, related through females, with inherited thrombocytopenia thought to be a variant of WAS because it was associated with elevated serum IgA and mild nephropathy. Five suffered from severe eczema since infancy but had no unusual susceptibility to infections. Platelet volume was reduced. <a href="#35" class="mim-tip-reference" title="Gutenberger, J., Trygstad, C. W., Stiehm, E. R., Opitz, J. M., Thatcher, L. G., Bloodworth, J. M. B. &lt;strong&gt;Familial thrombocytopenia, elevated serum IgA and renal disease.&lt;/strong&gt; Am. J. Med. 49: 729-741, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5006613/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5006613&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0002-9343(70)80055-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5006613">Gutenberger et al. (1970)</a> reported a similar family. Renal biopsy was performed in 3 patients. In the first, advanced membranoproliferative glomerulonephritis was found with deposition of complement and IgG on the basement membrane. In the second, mesangial glomerulonephritis with focal glomerulosclerosis and deposition of complement and IgA were found. The third showed minimal glomerulonephritis. <a href="#78" class="mim-tip-reference" title="Standen, G. R., Lillicrap, D. P., Matthews, N., Bloom, A. L. &lt;strong&gt;Inherited thrombocytopenia, elevated serum IgA and renal disease: identification as a variant of the Wiskott-Aldrich syndrome.&lt;/strong&gt; Quart. J. Med. 59: 401-408, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3749445/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3749445&lt;/a&gt;]" pmid="3749445">Standen et al. (1986)</a> concluded that despite the clinical similarities and the elevated IgA in both conditions, the disorder is distinct from Berger disease (<a href="/entry/161950">161950</a>). <a href="#77" class="mim-tip-reference" title="Spitler, L. E., Wray, B. B., Mogerman, S., Miller, J. J., III, O&#x27;Reilly, R. J., Lagios, M. &lt;strong&gt;Nephropathy in the Wiskott-Aldrich syndrome.&lt;/strong&gt; Pediatrics 66: 391-398, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7422429/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7422429&lt;/a&gt;]" pmid="7422429">Spitler et al. (1980)</a> found nephropathy in 5 of 32 patients with WAS who participated in a study of treatment with transfer factor, a dialyzable extract of leukocytes that enhances cellular immunity. Although nephropathy occurred without such treatment, the temporal relationships suggested that transfer factor aggravated the problem. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3754288+5006613+3749445+7422429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#52" class="mim-tip-reference" title="McEnery, G., Nash, F. W. &lt;strong&gt;Wiskott-Aldrich syndrome associated with idiopathic infantile cortical hyperostosis (Caffey&#x27;s disease).&lt;/strong&gt; Arch. Dis. Child. 48: 818-821, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4584223/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4584223&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/adc.48.10.818&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4584223">McEnery and Nash (1973)</a> described 2 unrelated males with the association of WAS and infantile cortical hyperostosis (Caffey disease; <a href="/entry/114000">114000</a>), and <a href="#1" class="mim-tip-reference" title="Abinun, M., Mikuska, M., Filipovic, B. &lt;strong&gt;Infantile cortical hyperostosis associated with the Wiskott-Aldrich syndrome.&lt;/strong&gt; Europ. J. Pediat. 147: 518-519, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3044797/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3044797&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00441979&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3044797">Abinun et al. (1988)</a> also described a case. Thus, an immunologic defect may play a role in the pathogenesis of infantile cortical hyperostosis. <a href="#54" class="mim-tip-reference" title="Meropol, N. J., Hicks, D., Brooks, J. J., Siminovitch, K. A., Fishman, N. O., Kant, J. A., Bennett, J. S. &lt;strong&gt;Coincident Kaposi sarcoma and T-cell lymphoma in a patient with the Wiskott-Aldrich syndrome.&lt;/strong&gt; Am. J. Hemat. 40: 126-134, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1316718/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1316718&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajh.2830400210&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1316718">Meropol et al. (1992)</a> reported the case of a 24-year-old man with WAS complicated by T-cell large cell lymphoma and Kaposi sarcoma (<a href="/entry/148000">148000</a>). Kaposi sarcoma is well known in connection with the immunosuppression used with allograft transplantation and in patients with HIV infection, but this was the first incidence of its occurrence in this form of immunodeficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3044797+1316718+4584223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#80" class="mim-tip-reference" title="Sullivan, K. E., Mullen, C. A., Blaese, R. M., Winkelstein, J. A. &lt;strong&gt;A multiinstitutional survey of Wiskott-Aldrich syndrome.&lt;/strong&gt; J. Pediat. 125: 876-885, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7996359/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7996359&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(05)82002-5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7996359">Sullivan et al. (1994)</a> reported on a multiinstitutional survey of WAS in the U.S. in which laboratory and clinical data were collected on 154 affected individuals. There was a family history of the disorder in the case of 74 of the patients. Thrombocytopenia was a prerequisite for entry into the study; however, only 27% of patients had the typical set of 3 symptoms described originally by <a href="#3" class="mim-tip-reference" title="Aldrich, R. A., Steinberg, A. G., Campbell, D. C. &lt;strong&gt;Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea.&lt;/strong&gt; Pediatrics 13: 133-139, 1954.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13133561/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13133561&lt;/a&gt;]" pmid="13133561">Aldrich et al. (1954)</a>. The immunologic findings in particular varied considerably with the most distinctive finding: that 61% of the patients had a low CD8+ count. Eczema developed in 81% but was not always present at diagnosis. In those patients in whom platelet size was measured, <a href="#80" class="mim-tip-reference" title="Sullivan, K. E., Mullen, C. A., Blaese, R. M., Winkelstein, J. A. &lt;strong&gt;A multiinstitutional survey of Wiskott-Aldrich syndrome.&lt;/strong&gt; J. Pediat. 125: 876-885, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7996359/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7996359&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(05)82002-5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7996359">Sullivan et al. (1994)</a> found them to be small, although they did increase in size following splenectomy. The average age at diagnosis was 21 months; the average age at death was 8 years. There were 16 patients who lived beyond 18 years, and the prognosis for the disorder had improved considerably in recent years. Bone marrow transplantation had been carried out in 47 cases and a good outcome was reported in two-thirds of them. Autoimmune disorders occurred in 40% of patients; this group had a poor prognosis as they were more likely to develop a malignancy. Malignancies were seen in 13% of patients and were mainly of the lymphoreticular system. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7996359+13133561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Du, W., Kumaki, S., Uchiyama, T., Yachie, A., Looi, C. Y., Kawai, S., Minegishi, M., Ramesh, N., Geha, R. S., Sasahara, Y., Tsuchiya, S. &lt;strong&gt;A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient.&lt;/strong&gt; Hum. Mutat. 27: 370-375, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16511828/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16511828&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20308&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16511828">Du et al. (2006)</a> described somatic mosaicism in a 15-year-old male WAS patient due to a second-hit mutation in the initiation codon. See <a href="/entry/300392#0019">300392.0019</a>-<a href="/entry/300392#0020">300392.0020</a>. The patient had no clear family history. Thrombocytopenia was noticed at 1 month of age and thereafter eczema and recurrent infections were clinical features. At 8 years of age, he had persistent cough due to pulmonary hilar lymph node swelling. From the result of hilar lymph node biopsy, he was diagnosed with Hodgkin disease and received chemotherapy and local radiotherapy (<a href="#70" class="mim-tip-reference" title="Sasahara, Y., Fujie, H., Kumaki, S., Ohashi, Y., Minegishi, M., Tsuchiya, S. &lt;strong&gt;Epstein-Barr virus-associated Hodgkin&#x27;s disease in a patient with Wiskott-Aldrich syndrome.&lt;/strong&gt; Acta Paediat. 90: 1348-1351, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11808913/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11808913&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1080/080352501317130461&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11808913">Sasahara et al., 2001</a>; <a href="#71" class="mim-tip-reference" title="Sasahara, Y., Rachid, R., Byrne, M. J., de la Fuente, M. A., Abraham, R. T., Ramesh, N., Geha, R. S. &lt;strong&gt;Mechanism of recruitment of WASP to the immunological synapse and of its activation following TCR ligation.&lt;/strong&gt; Molec. Cell 10: 1269-1281, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12504004/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12504004&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s1097-2765(02)00728-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12504004">Sasahara et al., 2002</a>). The patient had remained in complete remission thereafter. His platelet count was in the range of 6,000-15,000/microliter. Episodes of respiratory infections occurred less frequently, although severe eczema and thrombocytopenia persisted. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11808913+12504004+16511828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
<a id="diagnosis" class="mim-anchor"></a>
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<strong>Diagnosis</strong>
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<p>In an obligate heterozygote who was heterozygous for the AB polymorphism of G6PD, <a href="#28" class="mim-tip-reference" title="Gealy, W. J., Dwyer, J. M., Harley, J. B. &lt;strong&gt;Allelic exclusion of glucose-6-phosphate dehydrogenase in platelets and T lymphocytes from a Wiskott-Aldrich syndrome carrier.&lt;/strong&gt; Lancet 315: 63-65, 1980. Note: Originally Volume I.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6101415/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6101415&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(80)90492-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6101415">Gealy et al. (1980)</a> found that only the B isoenzyme was present in platelets and T lymphocytes, although both were present in erythrocytes and neutrophils. <a href="#65" class="mim-tip-reference" title="Prchal, J. T., Carroll, A. J., Prchal, J. F., Crist, W. M., Skalka, H. W., Gealy, W. J., Harley, J., Malluh, A. &lt;strong&gt;Wiskott-Aldrich syndrome: cellular impairments and their implication for carrier detection.&lt;/strong&gt; Blood 56: 1048-1054, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7437512/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7437512&lt;/a&gt;]" pmid="7437512">Prchal et al. (1980)</a> pursued the implications of this finding for genetic counseling. Although G6PD is likely to be useful in only a limited number of potential carriers, the large number of X-chromosome markers, DNA polymorphisms and other markers now available make it likely that carrier detection will be possible. <a href="#74" class="mim-tip-reference" title="Shapiro, R. S., Perry, G. S., III, Krivit, W., Gerrard, J. M., White, J. G., Kersey, J. H. &lt;strong&gt;Wiskott-Aldrich syndrome: detection of carrier state by metabolic stress of platelets.&lt;/strong&gt; Lancet 311: 121-123, 1978. Note: Originally Volume I.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/87553/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;87553&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(78)90419-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="87553">Shapiro et al. (1978)</a> concluded that carriers can be identified by study of platelets, which show a defect in oxidative phosphorylation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=87553+7437512+6101415" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Fearon, E. R., Kohn, D. B., Winkelstein, J. A., Vogelstein, B., Blaese, R. M. &lt;strong&gt;Carrier detection in the Wiskott Aldrich syndrome.&lt;/strong&gt; Blood 72: 1735-1739, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3263154/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3263154&lt;/a&gt;]" pmid="3263154">Fearon et al. (1988)</a> studied the pattern of X-chromosome inactivation in various cell populations from female relatives of patients with WAS, through analysis of the methylation patterns of X-linked genes that display RFLPs. They found that carriers could be accurately identified by the fact that peripheral blood T cells, granulocytes, and B cells of obligate heterozygotes display specific patterns of X-chromosome inactivation that are clearly different from those of normal controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3263154" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#67" class="mim-tip-reference" title="Puck, J. M., Siminovitch, K. A., Poncz, M., Greenberg, C. R., Rottem, M., Conley, M. E. &lt;strong&gt;Atypical presentation of Wiskott-Aldrich syndrome: diagnosis in two unrelated males based on studies of maternal T cell X chromosome inactivation.&lt;/strong&gt; Blood 75: 2369-2374, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1972030/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1972030&lt;/a&gt;]" pmid="1972030">Puck et al. (1990)</a> pointed out that the diagnosis of WAS may be difficult in infancy when sporadic thrombocytopenia with no, or only questionable, immunologic abnormalities are present. In the case of 2 unrelated males with this problem, X-chromosome inactivation in the T cells of the mothers showed each of them to have a highly skewed X-chromosome inactivation pattern typical of WAS carriers. In one of the patients, a T-cell defect was subsequently demonstrated directly by studies of the lymphocytes, which failed to proliferate in periodate and anti-CD43. <a href="#57" class="mim-tip-reference" title="Notarangelo, L. D., Parolini, O., Faustini, R., Porteri, V., Albertini, A., Ugazio, A. G. &lt;strong&gt;Presentation of Wiskott-Aldrich syndrome as isolated thrombocytopenia. (Letter)&lt;/strong&gt; Blood 77: 1125-1126, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1995098/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1995098&lt;/a&gt;]" pmid="1995098">Notarangelo et al. (1991)</a> reported a similar case of a boy with WAS presenting as idiopathic thrombocytopenia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1972030+1995098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#58" class="mim-tip-reference" title="Notarangelo, L. D., Parolini, O., Porta, F., Locatelli, F., Lanfranchi, A., Marconi, M., Nespoli, L., Albertini, A., Craig, I. W., Ugazio, A. G. &lt;strong&gt;Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS.&lt;/strong&gt; Hum. Genet. 88: 237-241, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1684569/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1684569&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00206081&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1684569">Notarangelo et al. (1991)</a> studied a presumably heterozygous, thrombocytopenic female from a WAS pedigree. Her carrier status was confirmed by linkage studies. Both small-sized and normal-sized platelets were present, suggesting that, unlike the vast majority of WAS carriers, she did not manifest nonrandom X-chromosome inactivation in the thrombopoietic cell lineage. Studies of X-chromosome inactivation by means of RFLP and methylation analysis showed that the pattern of X-chromosome inactivation was nonrandom in T lymphocytes but random in granulocytes. <a href="#56" class="mim-tip-reference" title="Notarangelo, L. D., Candotti, F., Parolini, O., Mantuano, E., Giliani, S., Lanfranchi, A., Albertini, A. &lt;strong&gt;Application of molecular analysis to genetic counseling in the Wiskott-Aldrich syndrome (WAS).&lt;/strong&gt; DNA Cell Biol. 12: 645-649, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8397823/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8397823&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1089/dna.1993.12.645&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8397823">Notarangelo et al. (1993)</a> reviewed the use of the biased inactivation of the X chromosome in hematopoietic cells as a tool for carrier detection in connection with genetic counseling. A closely linked hypervariable marker, M27-beta (DXS255), was used. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1684569+8397823" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#97" class="mim-tip-reference" title="Yamada, M., Ohtsu, M., Kobayashi, I., Kawamura, N., Kobayashi, K., Ariga, T., Sakiyama, Y., Nelson, D. L., Tsuruta, S., Anakura, M., Ishikawa, N. &lt;strong&gt;Flow cytometric analysis of Wiskott-Aldrich syndrome (WAS) protein in lymphocytes from WAS patients and their familial carriers.&lt;/strong&gt; Blood 93: 756-759, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10215346/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10215346&lt;/a&gt;]" pmid="10215346">Yamada et al. (1999)</a> showed that flow cytometric analysis of WASP expression in lymphocytes is useful in the diagnosis of WAS. They found that intracellular WASP is expressed as distinctly 'bright' and 'dim' phenotypes in lymphocytes from normal individuals and WAS patients, respectively. <a href="#96" class="mim-tip-reference" title="Yamada, M., Ariga, T., Kawamura, N., Yamaguchi, K., Ohtsu, M., Nelson, D. L., Kondoh, T., Kobayashi, I., Okano, M., Kobayashi, K., Sakiyama, Y. &lt;strong&gt;Determination of carrier status for the Wiskott-Aldrich syndrome by flow cytometric analysis of Wiskott-Aldrich syndrome protein expression in peripheral blood mononuclear cells.&lt;/strong&gt; J. Immun. 165: 1119-1122, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10878391/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10878391&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.4049/jimmunol.165.2.1119&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10878391">Yamada et al. (2000)</a> demonstrated that WAS carriers could also be identified by flow cytometric analysis of monocytes but not lymphocytes. Bright and dim phenotypes for normal individuals and patients, respectively, were observed in monocytes, whereas in carriers, mixed populations (to varying degrees) of bright- and dim-staining cells were detected. The authors noted that flow cytometry is a simpler and more rapid method of diagnosis than molecular methods but may not be sensitive enough to detect carriers with low percentages of WASP-dim monocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10878391+10215346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
<a href="#36" class="mim-tip-reference" title="Holmberg, L., Gustavii, B., Jonsson, A. &lt;strong&gt;A prenatal study of fetal platelet count and size with application to fetus at risk for Wiskott-Aldrich syndrome.&lt;/strong&gt; J. Pediat. 102: 773-776, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6842338/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6842338&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(83)80256-x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6842338">Holmberg et al. (1983)</a> found that normal midtrimester fetuses have platelets of the same size as normal newborns and adults. They used these data 'to exclude Wiskott-Aldrich syndrome in an 18-week fetus at 50% risk of being affected.' Unfortunately, we do not know that the platelets of the WAS fetus are abnormally small. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6842338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#73" class="mim-tip-reference" title="Schwartz, M., Mibashan, R. S., Nicolaides, K. H., Millar, D. S., Jenkins, E., Rodeck, C. H., Orstavik, K. H., Stormorken, H. &lt;strong&gt;First-trimester diagnosis of Wiskott-Aldrich syndrome by DNA markers. (Letter)&lt;/strong&gt; Lancet 334: 1405 only, 1989. Note: Originally Volume II.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2574357/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2574357&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(89)92026-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2574357">Schwartz et al. (1989)</a> described the first-trimester diagnosis and exclusion of WAS by means of closely linked DNA markers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2574357" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated families, <a href="#30" class="mim-tip-reference" title="Giliani, S., Fiorini, M., Mella, P., Candotti, F., Schumacher, R. F., Wengler, G. S., Lalatta, F., Fasth, A., Badolato, R., Ugazio, A. G., Albertini, A., Notarangelo, L. D. &lt;strong&gt;Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis.&lt;/strong&gt; Prenatal Diag. 19: 36-40, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10073904/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10073904&lt;/a&gt;]" pmid="10073904">Giliani et al. (1999)</a> performed successful prenatal diagnosis of WAS at week 12 of gestation, using a combined nonradioactive analysis of SSCP and heteroduplex formation, followed by automated sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10073904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="clinicalManagement" class="mim-anchor"></a>
<h4 href="#mimClinicalManagementFold" id="mimClinicalManagementToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Clinical Management</strong>
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<p><a href="#15" class="mim-tip-reference" title="Corash, L., Shafer, B., Blaese, R. M. &lt;strong&gt;Platelet-associated immunoglobulin, platelet size, and the effect of splenectomy in the Wiskott-Aldrich syndrome.&lt;/strong&gt; Blood 65: 1439-1443, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3995178/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3995178&lt;/a&gt;]" pmid="3995178">Corash et al. (1985)</a> studied the mechanism of the usual improvement in thrombocytopenia in WAS after splenectomy. The thrombocytopenia is accompanied by elevated platelet-associated IgG and low mean platelet size. Both return to normal after splenectomy. Patients who relapse redevelop elevated IgG but maintain normal platelet size. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3995178" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#91" class="mim-tip-reference" title="Webb, M. C., Andrews, P. A., Koffman, C. G., Cameron, J. S. &lt;strong&gt;Renal transplantation in Wiskott-Aldrich syndrome.&lt;/strong&gt; Transplantation 56: 1585, 1993. Note: Corrected and republished from Transplantation 56: 747-748, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8279047/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8279047&lt;/a&gt;]" pmid="8279047">Webb et al. (1993)</a> described their experience with renal transplantation in a 46-year-old man with the syndrome of thrombocytopenia with raised IgA levels and impaired renal function. The man had a strong family history of hereditary thrombocytopenia and had presented in early childhood with allergic eczema, asthma, thrombocytopenic purpura, and recurrent middle ear infections. He had a normal platelet count after splenectomy was performed at the age of about 30. In his mid-thirties, he had subtotal colectomy and ileostomy for severe ulcerative colitis. This disorder later recurred, associated with keratitis and arthritis of large joints. He was later admitted to the hospital with a febrile illness, biopsy-proven cutaneous vasculitis, raised IgA levels, and impaired renal function. Renal biopsy demonstrated mesangioproliferative glomerulonephritis, old crescents, and mesangial IgA deposition. After renal transplant, a 'reduced immunosuppressive protocol' was instituted because of his underlying immunologic disorder. Despite this, no rejection episodes occurred. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8279047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The first reports of successful bone marrow transplantation for severe combined immunodeficiency (XSCID; <a href="/entry/300400">300400</a>) and for WAS were provided by <a href="#27" class="mim-tip-reference" title="Gatti, R. A., Meuwissen, J. J., Allen, H. D., Hong, R., Good, R. A. &lt;strong&gt;Immunological reconstitution of sex-linked lymphopenic immunological deficiency.&lt;/strong&gt; Lancet 292: 1366-1369, 1968. Note: Originally Volume II.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4177932/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4177932&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(68)92673-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4177932">Gatti et al. (1968)</a> and <a href="#6" class="mim-tip-reference" title="Bach, F. H., Albertini, R. J., Anderson, J. L., Joo, P., Bortin, M. &lt;strong&gt;Bone marrow transplantation in a patient with the Wiskott Aldrich syndrome.&lt;/strong&gt; Lancet 292: 1364-1366, 1968. Note: Originally Volume II.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4177931/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4177931&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(68)92672-x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4177931">Bach et al. (1968)</a>. <a href="#26" class="mim-tip-reference" title="Fischer, A., Friedrich, W., Levinsky, R., Vossen, J., Griscelli, C., Kubanek, B., Morgan, G., Wagemaker, G., Landais, P. &lt;strong&gt;Bone-marrow transplantation for immunodeficiencies and osteopetrosis: European survey, 1968-1985.&lt;/strong&gt; Lancet 328: 1080-1084, 1986. Note: Originally Volume II.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2877234/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2877234&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(86)90477-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2877234">Fischer et al. (1986)</a> gave a retrospective analysis of results in 162 patients who had undergone transplantation in 14 European centers between 1969 and 1985. <a href="#12" class="mim-tip-reference" title="Brochstein, J. A., Gillio, A. P., Ruggiero, M., Kernan, N. A., Emanuel, D., Laver, J., Small, T., O&#x27;Reilly, R. J. &lt;strong&gt;Marrow transplantation from human leukocyte antigen-identical or haploidentical donors for correction of Wiskott-Aldrich syndrome.&lt;/strong&gt; J. Pediat. 119: 907-912, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1960605/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1960605&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(05)83041-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1960605">Brochstein et al. (1991)</a> reported on the bone marrow transplantation in 17 patients with WAS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4177931+2877234+1960605+4177932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Boztug, K., Schmidt, M., Schwarzer, A., Banerjee, P. P., Diez, I. A., Dewey, R. A., Bohm, M., Nowrouzi, A., Ball, C. R., Glimm, H., Naundorf, S., Kuhlcke, K., Blasczyk, R., Kondratenko, I., Marodi, L., Orange, J. S., von Kalle, C., Klein, C. &lt;strong&gt;Stem-cell gene therapy for the Wiskott-Aldrich syndrome.&lt;/strong&gt; New Eng. J. Med. 363: 1918-1927, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21067383/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21067383&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21067383[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMoa1003548&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21067383">Boztug et al. (2010)</a> reported successful treatment of 2 patients with Wiskott-Aldrich syndrome with transfusion of autologous, genetically modified hematopoietic stem cells. They found sustained expression of WAS protein expression in hematopoietic stem cells, lymphoid and myeloid cells, and platelets after gene therapy. T and B cells, natural killer cells, and monocytes were functionally corrected. After treatment, the patients' clinical condition markedly improved, with resolution of hemorrhagic diathesis, eczema, autoimmunity, and predisposition to severe infection. Comprehensive insertion-site analysis showed vector integration that targeted multiple genes controlling growth and immunologic responses in a persistently polyclonal hematopoiesis that was followed for 3 years in both boys. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21067383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Aiuti, A., Biasco, L., Scaramuzza, S., Ferrua, F., Cicalese, M. P., Baricordi, C., Dionisio, F., Calabria, A., Giannelli, S., Castiello, M. C., Bosticardo, M., Evangelio, C., and 28 others. &lt;strong&gt;Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome.&lt;/strong&gt; Science 341: 1233151, 2013. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23845947/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23845947&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23845947[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1233151&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23845947">Aiuti et al. (2013)</a> reported 3 patients with Wiskott-Aldrich syndrome treated with lentiviral gene-corrected hematopoietic stem cells (HSCs) after pretreatment with a reduced-intensity myeloablative regimen. Administration of autologous HSCs transduced with lentivirus at high efficiency (greater than 90%) resulted in robust (25 to 50%), stable, and long-term engraftment of gene-corrected HSCs in the patients' bone marrow. In all 3 patients, <a href="#2" class="mim-tip-reference" title="Aiuti, A., Biasco, L., Scaramuzza, S., Ferrua, F., Cicalese, M. P., Baricordi, C., Dionisio, F., Calabria, A., Giannelli, S., Castiello, M. C., Bosticardo, M., Evangelio, C., and 28 others. &lt;strong&gt;Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome.&lt;/strong&gt; Science 341: 1233151, 2013. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23845947/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23845947&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23845947[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1233151&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23845947">Aiuti et al. (2013)</a> observed improved platelet counts, protection from bleeding and severe infections, and resolution of eczema. In contrast to gamma-retroviral gene therapy, lentiviral-based therapy did not induce in vivo selection of clones carrying integrations near oncogenes. Consistent with this, <a href="#2" class="mim-tip-reference" title="Aiuti, A., Biasco, L., Scaramuzza, S., Ferrua, F., Cicalese, M. P., Baricordi, C., Dionisio, F., Calabria, A., Giannelli, S., Castiello, M. C., Bosticardo, M., Evangelio, C., and 28 others. &lt;strong&gt;Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome.&lt;/strong&gt; Science 341: 1233151, 2013. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23845947/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23845947&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23845947[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1233151&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23845947">Aiuti et al. (2013)</a> did not see evidence of clonal expansions in the patients for up to 20 to 32 months after gene therapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23845947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#46" class="mim-tip-reference" title="Labrosse, R., Chu, J. I., Armant, M. A., Everett, J. K., Pellin, D., Kareddy, N., Frelinger, A. L., Henderson, L. A., O&#x27;Connell, A. E., Biswas, A., Coenen-van der Spek, J., Miggelbrink, A., and 33 others. &lt;strong&gt;Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome.&lt;/strong&gt; Blood 142: 1281-1296, 2023.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/37478401/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;37478401&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=37478401[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1182/blood.2022019117&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="37478401">Labrosse et al. (2023)</a> reported the outcome of a phase 1/2 open-label clinical trial in 5 patients with WAS treated with lentiviral-mediated gene therapy targeted to autologous CD43+ cells. After a median follow-up of 7.4 years, the patients experienced improved humoral and cellular immunity, improved eczema, and improved bleeding diathesis. Two of the patients who had autoimmune manifestations of disease prior to gene therapy experienced recurrence of autoimmune manifestations after gene therapy. These 2 patients had poor recovery of regulatory T cells (Tregs) and interleukin 10 (IL10; <a href="/entry/124092">124092</a>)-producing regulatory B cells (Bregs), leading <a href="#46" class="mim-tip-reference" title="Labrosse, R., Chu, J. I., Armant, M. A., Everett, J. K., Pellin, D., Kareddy, N., Frelinger, A. L., Henderson, L. A., O&#x27;Connell, A. E., Biswas, A., Coenen-van der Spek, J., Miggelbrink, A., and 33 others. &lt;strong&gt;Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome.&lt;/strong&gt; Blood 142: 1281-1296, 2023.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/37478401/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;37478401&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=37478401[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1182/blood.2022019117&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="37478401">Labrosse et al. (2023)</a> to conclude that Bregs and Tregs are protective against autoimmunity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37478401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
<a id="populationGenetics" class="mim-anchor"></a>
<h4 href="#mimPopulationGeneticsFold" id="mimPopulationGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimPopulationGeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Population Genetics</strong>
</span>
</h4>
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<div id="mimPopulationGeneticsFold" class="collapse in mimTextToggleFold">
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<p><a href="#64" class="mim-tip-reference" title="Perry, G. S., III, Spector, B. D., Schuman, L. M., Mandel, J. S., Anderson, V. E., McHugh, R. B., Hanson, M. R., Fahlstrom, S. M., Krivit, W., Kersey, J. H. &lt;strong&gt;The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979).&lt;/strong&gt; J. Pediat. 97: 72-78, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7381651/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7381651&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(80)80133-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7381651">Perry et al. (1980)</a> found that WAS had an incidence of 4.0 per million live male births in the United States. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7381651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
<a id="pathogenesis" class="mim-anchor"></a>
<h4 href="#mimPathogenesisFold" id="mimPathogenesisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimPathogenesisToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Pathogenesis</strong>
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</h4>
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<span class="mim-text-font">
<p>Several groups (<a href="#8" class="mim-tip-reference" title="Blaese, R. M., Strober, W., Brown, R. S., Waldmann, T. A. &lt;strong&gt;The Wiskott-Aldrich syndrome: a disorder with a possible defect in antigen processing or recognition.&lt;/strong&gt; Lancet 292: 1056-1060, 1968. Note: Originally Volume I.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4172469/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4172469&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(68)91411-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4172469">Blaese et al., 1968</a>; <a href="#14" class="mim-tip-reference" title="Cooper, M. D., Chae, H. P., Lowman, J. T., Krivit, W., Good, R. A. &lt;strong&gt;Wiskott-Aldrich syndrome: an immunologic deficiency disease involving the afferent limb of immunity.&lt;/strong&gt; Am. J. Med. 44: 499-513, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4171085/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4171085&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9343(68)90051-x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4171085">Cooper et al., 1968</a>) presented evidence that the immune defect is in the afferent limb, i.e., is one of antigen processing or recognition. In an obligate heterozygote who was heterozygous for the AB polymorphism of G6PD (<a href="/entry/305900">305900</a>), <a href="#28" class="mim-tip-reference" title="Gealy, W. J., Dwyer, J. M., Harley, J. B. &lt;strong&gt;Allelic exclusion of glucose-6-phosphate dehydrogenase in platelets and T lymphocytes from a Wiskott-Aldrich syndrome carrier.&lt;/strong&gt; Lancet 315: 63-65, 1980. Note: Originally Volume I.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6101415/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6101415&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(80)90492-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6101415">Gealy et al. (1980)</a> found that only the B isoenzyme was present in platelets and T lymphocytes, although both were present in erythrocytes and neutrophils. The findings suggested selection against the WAS gene in these tissues, which are also the ones that express the defect in the hemizygous affected male. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6101415+4172469+4171085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#60" class="mim-tip-reference" title="Parkman, R., Kenney, D. M., Remold-O&#x27;Donnell, E., Perrine, S., Rosen, F. S. &lt;strong&gt;Surface protein abnormalities in lymphocytes and platelets from patients with Wiskott-Aldrich syndrome.&lt;/strong&gt; Lancet 318: 1387-1389, 1981. Note: Originally Volume II.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6118760/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6118760&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(81)92802-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6118760">Parkman et al. (1981)</a> studied the surface proteins of lymphocytes and platelets by radioiodination followed by SDS-polyacrylamide gel electrophoresis and autoradiography. All 3 WAS patients studied showed, in lymphocytes, absence of a protein, molecular weight 115,000, found in normals. Platelets also showed an abnormality of surface glycoproteins. CD43 (<a href="/entry/182160">182160</a>), or sialophorin, is a cell-surface sialoglycoprotein that is deficient in quantity and/or is defective in lymphocytes of patients with this disorder (<a href="#60" class="mim-tip-reference" title="Parkman, R., Kenney, D. M., Remold-O&#x27;Donnell, E., Perrine, S., Rosen, F. S. &lt;strong&gt;Surface protein abnormalities in lymphocytes and platelets from patients with Wiskott-Aldrich syndrome.&lt;/strong&gt; Lancet 318: 1387-1389, 1981. Note: Originally Volume II.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6118760/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6118760&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(81)92802-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6118760">Parkman et al., 1981</a>; <a href="#69" class="mim-tip-reference" title="Remold-O&#x27;Donnell, E., Kenney, D. M., Parkman, R., Cairns, L., Savage, B., Rosen, F. S. &lt;strong&gt;Characterization of a human lymphocyte surface sialoglycoprotein that is defective in Wiskott-Aldrich syndrome.&lt;/strong&gt; J. Exp. Med. 159: 1705-1723, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6547160/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6547160&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1084/jem.159.6.1705&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6547160">Remold-O'Donnell et al., 1984</a>). <a href="#53" class="mim-tip-reference" title="Mentzer, S. J., Remold-O&#x27;Donnell, E., Crimmins, M. A. V., Bierer, B. E., Rosen, F. S., Burakoff, S. J. &lt;strong&gt;Sialophorin, a surface sialoglycoprotein defective in the Wiskott-Aldrich syndrome, is involved in human T lymphocyte proliferation.&lt;/strong&gt; J. Exp. Med. 165: 1383-1392, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3572301/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3572301&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1084/jem.165.5.1383&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3572301">Mentzer et al. (1987)</a> suggested that sialophorin functions in T-cell activation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6118760+6547160+3572301" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#76" class="mim-tip-reference" title="Simon, H.-U., Mills, G. B., Hashimoto, S., Siminovitch, K. A. &lt;strong&gt;Evidence for defective transmembrane signaling in B cells from patients with Wiskott-Aldrich syndrome.&lt;/strong&gt; J. Clin. Invest. 90: 1396-1405, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1401074/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1401074&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI116006&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1401074">Simon et al. (1992)</a> presented experimental results indicating the association of WAS with a defect in the coupling of surface immunoglobulin (sIg) on B cells to signal transduction pathways considered prerequisite for B-cell activation, probably at the level of tyrosine phosphorylation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1401074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#81" class="mim-tip-reference" title="Symons, M., Derry, J. M. J., Karlak, B., Jiang, S., Lemahieu, V., McCormick, F., Francke, U., Abo, A. &lt;strong&gt;Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization.&lt;/strong&gt; Cell 84: 723-734, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8625410/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8625410&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0092-8674(00)81050-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8625410">Symons et al. (1996)</a> proposed that the Wiskott-Aldrich protein provides a link between CDC42 and the actin cytoskeleton. T lymphocytes of affected males with WAS exhibit a severe disturbance of the actin cytoskeleton, suggesting that the WAS protein may regulate its organization. <a href="#40" class="mim-tip-reference" title="Kolluri, R., Tolias, K. F., Carpenter, C. L., Rosen, F. S., Kirchhausen, T. &lt;strong&gt;Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42.&lt;/strong&gt; Proc. Nat. Acad. Sci. 93: 5615-5618, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8643625/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8643625&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.93.11.5615&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8643625">Kolluri et al. (1996)</a> showed that WAS protein interacts with Cdc42, a member of the RHO family of GTPases. This interaction, which is GTP-dependent, was detected in cell lysates, in transient transfections, and with purified recombinant proteins. Different mutant WAS proteins from 3 unrelated affected males retained their ability to interact with Cdc42 but the level of expression of the WAS protein in these mutants was only 2 to 5% of normal. Taken together, these data suggested to <a href="#40" class="mim-tip-reference" title="Kolluri, R., Tolias, K. F., Carpenter, C. L., Rosen, F. S., Kirchhausen, T. &lt;strong&gt;Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42.&lt;/strong&gt; Proc. Nat. Acad. Sci. 93: 5615-5618, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8643625/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8643625&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.93.11.5615&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8643625">Kolluri et al. (1996)</a> that the WAS protein may function as a signal transduction adaptor downstream of Cdc42, and that, in affected males, the cytoskeletal abnormalities may result from a defect in Cdc42 signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8643625+8625410" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#75" class="mim-tip-reference" title="Shcherbina, A., Bretscher, A., Rosen, F. S., Kenney, D. M., Remold-O&#x27;Donnell, E. &lt;strong&gt;The cytoskeletal linker protein moesin: decreased levels in Wiskott-Aldrich syndrome platelets and identification of a cleavage pathway in normal platelets.&lt;/strong&gt; Brit. J. Haemat. 106: 216-223, 1999. Note: Erratum: Brit. J. Haemat. 107: 218 only, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10444190/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10444190&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-2141.1999.01508.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10444190">Shcherbina et al. (1999)</a> demonstrated a decrease in platelet moesin (<a href="/entry/309845">309845</a>) in patients with Wiskott-Aldrich syndrome. This appeared to be a secondary defect to the primary defect in the WASP gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10444190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Mapping</strong>
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<p><a href="#63" class="mim-tip-reference" title="Peacocke, M., Siminovitch, K. A. &lt;strong&gt;Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome.&lt;/strong&gt; Proc. Nat. Acad. Sci. 84: 3430-3433, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3472214/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3472214&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.84.10.3430&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3472214">Peacocke and Siminovitch (1987)</a> studied 10 kindreds for linkage with RFLPs. Significant linkage was found between WAS and 2 loci, DXS14 and DXS7, that mapped to the proximal short arm of the X chromosome. Maximal lod scores were 4.29 (at theta = 0.03) and 4.12 (at theta = 0.00), respectively. <a href="#4" class="mim-tip-reference" title="Arveiler, B., de Saint Basile, G., Debre, M., Fischer, A., Griscelli, C., Mandel, J. L. &lt;strong&gt;Linkage analysis of the Wiskott-Aldrich syndrome (IMD2) using X-linked DNA polymorphisms. (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 46: 573 only, 1987."None>Arveiler et al. (1987)</a> found a strong suggestion of linkage between IMD2 and DXS1, which is located in Xq11-q12. <a href="#45" class="mim-tip-reference" title="Kwan, S.-P., Sandkuyl, L. A., Blaese, M., Kunkel, L. M., Bruns, G., Parmley, R., Skarshaug, S., Page, D. C., Ott, J., Rosen, F. S. &lt;strong&gt;Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers.&lt;/strong&gt; Genomics 3: 39-43, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2906042/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2906042&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0888-7543(88)90156-5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2906042">Kwan et al. (1988)</a> concluded from linkage studies that the WAS gene lies between DXS7 (Xp11.3) and DXS14 (Xp11); the likelihood of this position was at least 128 times higher than that of any other interval studied. In a study of 12 WAS families, <a href="#44" class="mim-tip-reference" title="Kwan, S.-P., Lehner, T., Lu, B., Raghu, G., Blaese, M., Sandkuyl, L. A., Ott, J., Fraser, N., Boyd, Y., Craig, I. W., Fischer, S., Rosen, F. &lt;strong&gt;Linkage of DXS255 to the Wiskott Aldrich syndrome gene. (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 51: 1027 only, 1989."None>Kwan et al. (1989)</a> demonstrated linkage to another DNA marker, DXS255, located at Xp11.22; peak lod score = 4.65 at theta = 0.05. <a href="#31" class="mim-tip-reference" title="Greer, W. L., Mahtani, M. M., Kwong, P. C., Rubin, L. A., Peacocke, M., Willard, H. F., Siminovitch, K. A. &lt;strong&gt;Linkage studies of the Wiskott-Aldrich syndrome: polymorphisms at TIMP and the X chromosome centromere are informative markers for genetic prediction.&lt;/strong&gt; Hum. Genet. 83: 227-230, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2571560/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2571560&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00285161&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2571560">Greer et al. (1989)</a> showed linkage between WAS and DXZ1 (lod score = 7.08 at theta = 0.03) and between WAS and the TIMP (<a href="/entry/305370">305370</a>) locus (lod score = 5.09 at theta = 0.0). <a href="#34" class="mim-tip-reference" title="Greer, W. L., Somani, A.-K., Kwong, P. C., Peacocke, M., Rubin, L. A., Siminovitch, K. A. &lt;strong&gt;Linkage relationships of the Wiskott-Aldrich syndrome to 10 loci in the pericentromeric region of the human X chromosome.&lt;/strong&gt; Genomics 6: 568-571, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2328995/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2328995&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0888-7543(90)90489-h&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2328995">Greer et al. (1990)</a> extended the linkage studies, demonstrating strongest linkage (maximum lod score = 10.19 at theta = 0.0) between WAS and the hypervariable DXS255 locus, a marker already mapped between DXS7 and DXS14. <a href="#16" class="mim-tip-reference" title="de Saint Basile, G., Arveiler, B., Fraser, N. F., Boyd, Y., Graig, I. W., Griscelli, G., Fischer, A. &lt;strong&gt;Close linkage of hypervariable marker DXS255 to disease locus of Wiskott-Aldrich syndrome.&lt;/strong&gt; Lancet 334: 1319-1321, 1989. Note: Originally Volume II.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2574264/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2574264&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(89)91920-x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2574264">De Saint Basile et al. (1989)</a> found close linkage of WAS to DXS255 (maximum lod = 5.42 at theta = 0.00). <a href="#43" class="mim-tip-reference" title="Kwan, S.-P., Lehner, T., Hagemann, T., Lu, B., Blaese, M., Ochs, H., Wedgwood, R., Ott, J., Craig, I. W., Rosen, F. S. &lt;strong&gt;Localization of the gene for the Wiskott-Aldrich syndrome between two flanking markers, TIMP and DXS255, on Xp11.22-Xp11.3.&lt;/strong&gt; Genomics 10: 29-33, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1675197/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1675197&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0888-7543(91)90480-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1675197">Kwan et al. (1991)</a> likewise concluded that DXS255 is the closest marker identified; WAS showed a multipoint maximum lod score of 8.59 at 1.2 cM distal to DXS255. Furthermore, they concluded that the TIMP gene must lie distal to WAS; thus, WAS was thought to lie between DXS255 (Xp11.22) and TIMP (Xp11.3). <a href="#32" class="mim-tip-reference" title="Greer, W. L., Peacocke, M., Siminovitch, K. A. &lt;strong&gt;The Wiskott-Aldrich syndrome: refinement of the localization on Xp and identification of another closely linked marker locus, OATL1.&lt;/strong&gt; Hum. Genet. 88: 453-456, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1346773/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1346773&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00215681&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1346773">Greer et al. (1992)</a> demonstrated close linkage between the WAS and OATL1 (<a href="/entry/311240">311240</a>) loci; maximum lod = 6.08 at theta = 0.00. The finding localized the TIMP, OATL1, and WAS loci distal to DXS146 and the OATL1 and WAS loci proximal to TIMP. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2328995+2906042+1346773+3472214+1675197+2571560+2574264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Arveiler, B., de Saint-Basile, G., Fischer, A., Griscelli, C., Mandel, J. L. &lt;strong&gt;Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 46: 906-911, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1971143/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1971143&lt;/a&gt;]" pmid="1971143">Arveiler et al. (1990)</a> showed that failure to demonstrate linkage of WAS to markers known from other families to be closely situated was attributable to germ cell mosaicism in the grandfather of affected males. The same phenomenon has been described in X-linked agammaglobulinemia; see <a href="/entry/300300">300300</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1971143" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="de Saint-Basile, G., Schlegel, N., Caniglia, M., Le Deist, F., Kaplan, C., Lecompte, T., Piller, F., Fischer, A., Griscelli, C. &lt;strong&gt;X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriers.&lt;/strong&gt; Ann. Hemat. 63: 107-110, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1912030/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1912030&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01707282&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1912030">De Saint-Basile et al. (1991)</a> studied a family in which 4 members had X-linked thrombocytopenia. Linkage studies showed mapping to the same region of the X chromosome as that found in WAS. Although polymorphonuclear leukocytes showed a normal pattern of X-inactivation, a skewed pattern was demonstrated in lymphocytes. <a href="#17" class="mim-tip-reference" title="de Saint-Basile, G., Schlegel, N., Caniglia, M., Le Deist, F., Kaplan, C., Lecompte, T., Piller, F., Fischer, A., Griscelli, C. &lt;strong&gt;X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriers.&lt;/strong&gt; Ann. Hemat. 63: 107-110, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1912030/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1912030&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01707282&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1912030">De Saint-Basile et al. (1991)</a> concluded that this was consistent with allelic mutations at the same locus, with the severity of disease varying according to the distinct patterns of hematopoietic cell involvement in obligate carriers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1912030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#42" class="mim-tip-reference" title="Kwan, S.-P., Hagemann, T. L., Radtke, B. E., Blaese, R. M., Rosen, F. S. &lt;strong&gt;Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.&lt;/strong&gt; Proc. Nat. Acad. Sci. 92: 4706-4710, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7753869/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7753869&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.92.10.4706&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7753869">Kwan et al. (1995)</a> isolated and characterized a polymorphic CA dinucleotide repeat, DXS6940, that lies within 30 kb of the WAS gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7753869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Molecular Genetics</strong>
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<p><a href="#18" class="mim-tip-reference" title="Derry, J. M. J., Ochs, H. D., Francke, U. &lt;strong&gt;Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.&lt;/strong&gt; Cell 78: 635-644, 1994. Note: Erratum: Cell 79: following 922, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8069912/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8069912&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0092-8674(94)90528-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8069912">Derry et al. (1994)</a> found that the WAS gene was not expressed in 2 unrelated patients with Wiskott-Aldrich syndrome, 1 of whom had a single base deletion that produced a frameshift and premature termination of translation (<a href="/entry/300392#0001">300392.0001</a>). Two additional patients were identified with point mutations that changed the same arginine residue to either a histidine or a leucine (<a href="/entry/300392#0002">300392.0002</a>-<a href="/entry/300392#0003">300392.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8069912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
<p><a href="#86" class="mim-tip-reference" title="Villa, A., Notarangelo, L., Macchi, P., Mantuano, E., Cavagni, G., Brugnoni, D., Strina, D., Patrosso, M. C., Ramenghi, U., Sacco, M. G., Ugazio, A., Vezzoni, P. &lt;strong&gt;X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.&lt;/strong&gt; Nature Genet. 9: 414-417, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7795648/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7795648&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0495-414&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7795648">Villa et al. (1995)</a> presented proof that mutations in the WAS gene can result in X-linked thrombocytopenia characterized by thrombocytopenia with small-sized platelets as an isolated finding (<a href="/entry/313900">313900</a>). Why some mutations impair only the megakaryocytic lineage and have no apparent effect on the lymphoid lineage was unclear. In a study of 16 WAS patients and 4 X-linked thrombocytopenia patients, <a href="#83" class="mim-tip-reference" title="Thompson, L. J., Lalloz, M. R. A., Layton, D. M. &lt;strong&gt;Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.&lt;/strong&gt; Blood Cells Molec. Dis. 25: 218-226, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10575547/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10575547&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/bcmd.1999.0247&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10575547">Thompson et al. (1999)</a> identified 14 distinct mutations, including 7 novel gene defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7795648+10575547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
<p>In an affected grandson of a female first cousin of the 3 patients described originally by <a href="#94" class="mim-tip-reference" title="Wiskott, A. &lt;strong&gt;Familiarer, angeborener Morbus Werlhofii?&lt;/strong&gt; Mschr. Kinderheilk. 68: 212-216, 1937."None>Wiskott (1937)</a>, <a href="#7" class="mim-tip-reference" title="Binder, V., Albert, M. H., Kabus, M., Bertone, M., Meindl, A., Belohradsky, B. H. &lt;strong&gt;The genotype of the original Wiskott phenotype.&lt;/strong&gt; New Eng. J. Med. 355: 1790-1793, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17065640/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17065640&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMoa062520&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17065640">Binder et al. (2006)</a> found a 2-nucleotide deletion in exon 1 of the WAS gene (<a href="/entry/300392#0021">300392.0021</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17065640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
<p><a href="#22" class="mim-tip-reference" title="Dobbs, A. K., Yang, T., Farmer, D. M., Howard, V., Conley, M. E. &lt;strong&gt;A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS.&lt;/strong&gt; Clin. Genet. 71: 171-176, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17250667/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17250667&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2007.00748.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17250667">Dobbs et al. (2007)</a> identified 2 different but contiguous single basepair deletions in maternal cousins with WAS (<a href="/entry/300392#0022">300392.0022</a> and <a href="/entry/300392#0023">300392.0023</a>, respectively). Their maternal grandmother was found to be a mosaic for the deletions, both of which occurred on the haplotype from the unaffected maternal great-grandfather, consistent with a bichromatid mutation in a male gamete. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17250667" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
<div class="mim-changed mim-change"><p><strong><em>Revertant Mosaicism</em></strong>
</p></div>
<div class="mim-changed mim-change"><p><a href="#89" class="mim-tip-reference" title="Wada, T., Schurman, S. H., Otsu, M., Garabedian, E. K., Ochs, H. D., Nelson, D. L., Candotti, F. &lt;strong&gt;Somatic mosaicism in Wiskott-Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.&lt;/strong&gt; Proc. Nat. Acad. Sci. 98: 8697-8702, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11447283/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11447283&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=11447283[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.151260498&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11447283">Wada et al. (2001)</a> provided evidence that in vivo reversion had occurred in the WAS gene in a patient with Wiskott-Aldrich syndrome, resulting in somatic mosaicism. The mutation was a 6-bp insertion (ACGAGG; <a href="/entry/300392#0008">300392.0008</a>) which abrogated expression of the WAS protein. Most of the patient's T lymphocytes expressed nearly normal levels of WAS protein. These lymphocytes were found to lack the deleterious mutation and showed a selective growth advantage in vivo. Analysis of the sequence surrounding the mutation site showed that the 6-bp insertion followed a tandem repeat of the same 6 nucleotides. These findings strongly suggested that DNA polymerase slippage was the cause of the original germline insertion mutation in this family and that the same mechanism was responsible for its deletion in one of the proband's T-cell progenitors, thus leading to reversion mosaicism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11447283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
<div class="mim-changed mim-change"><p><a href="#88" class="mim-tip-reference" title="Wada, T., Schurman, S. H., Jagadeesh, G. J., Garabedian, E. K., Nelson, D. L., Candotti, F. &lt;strong&gt;Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family.&lt;/strong&gt; Blood 104: 1270-1272, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15142877/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15142877&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1182/blood-2004-03-0846&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15142877">Wada et al. (2004)</a> described 2 additional patients from the same family of the man with revertant T-cell lymphocytes reported by <a href="#89" class="mim-tip-reference" title="Wada, T., Schurman, S. H., Otsu, M., Garabedian, E. K., Ochs, H. D., Nelson, D. L., Candotti, F. &lt;strong&gt;Somatic mosaicism in Wiskott-Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.&lt;/strong&gt; Proc. Nat. Acad. Sci. 98: 8697-8702, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11447283/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11447283&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=11447283[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.151260498&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11447283">Wada et al. (2001)</a>. Somatic mosaicism was demonstrated in leukocytes from the first patient that were cryopreserved when he was 22 years old, 11 years before his death from kidney failure. The second patient, 16 years old at the time of report, had a moderate clinical phenotype and developed revertant cells after the age of 14 years. T lymphocytes showed selective in vivo advantage. These results supported DNA polymerase slippage as a common underlying mechanism and indicated that T-cell mosaicism may have different clinical effects in WAS. <a href="#88" class="mim-tip-reference" title="Wada, T., Schurman, S. H., Jagadeesh, G. J., Garabedian, E. K., Nelson, D. L., Candotti, F. &lt;strong&gt;Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family.&lt;/strong&gt; Blood 104: 1270-1272, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15142877/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15142877&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1182/blood-2004-03-0846&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15142877">Wada et al. (2004)</a> stated that sibs with revertant mosaicism had previously been reported (<a href="#87" class="mim-tip-reference" title="Wada, T., Konno, A., Schurman, S. H., Garabedian, E. K., Anderson, S. M., Kirby, M., Nelson, D. L., Candotti, F. &lt;strong&gt;Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings.&lt;/strong&gt; J. Clin. Invest. 111: 1389-1397, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12727931/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12727931&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12727931[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI15485&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12727931">Wada et al., 2003</a>; <a href="#90" class="mim-tip-reference" title="Waisfisz, Q., Morgan, N. V., Savino, M., de Winter, J. P., van Berkel, C. G. M., Hoatlin, M. E., Ianzano, L., Gibson, R. A., Arwert, F., Savoia, A., Mathew, C. G., Pronk, J. C., Joenje, H. &lt;strong&gt;Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism.&lt;/strong&gt; Nature Genet. 22: 379-383, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10431244/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10431244&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/11956&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10431244">Waisfisz et al., 1999</a>), but 3 patients with revertant disease in a single kindred was unprecedented. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12727931+15142877+11447283+10431244" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
<div class="mim-changed mim-change"><p><strong><em>Somatic Mosaicism with Second-Site Mutations</em></strong>
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<div class="mim-changed mim-change"><p><a href="#10" class="mim-tip-reference" title="Boztug, K., Germeshausen, M., Avedillo Diez, I., Gulacsy, V., Diestelhorst, J., Ballmaier, M., Welte, K., Marodi, L., Chernyshova, L. I., Klein, C. &lt;strong&gt;Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome.&lt;/strong&gt; Clin. Genet. 74: 68-74, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18479478/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18479478&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2008.01019.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18479478">Boztug et al. (2008)</a> reported 2 Ukrainian brothers, aged 3 and 4 years, respectively, with WAS due to somatic mosaicism for a truncation mutation and multiple different second-site mutations. Flow cytometric analysis of peripheral blood cells showed that each patient had WAS-negative cells resulting from the truncation mutation and a subset of WAS-positive cells that expressed second-site missense WAS mutations. The second-site mutations resulted in the production of altered, but possibly functional, protein. All second-site mutations in both patients occurred in the same nucleotide triplet in which the truncation mutation occurred. Over time, both boys had a decrease in bleeding diathesis and eczema, and normalization of platelet counts. <a href="#10" class="mim-tip-reference" title="Boztug, K., Germeshausen, M., Avedillo Diez, I., Gulacsy, V., Diestelhorst, J., Ballmaier, M., Welte, K., Marodi, L., Chernyshova, L. I., Klein, C. &lt;strong&gt;Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome.&lt;/strong&gt; Clin. Genet. 74: 68-74, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18479478/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18479478&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2008.01019.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18479478">Boztug et al. (2008)</a> suggested that the second-site mutations may confer a proliferative advantage to the affected cells in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18479478" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
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<strong>Genotype/Phenotype Correlations</strong>
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<p><a href="#72" class="mim-tip-reference" title="Schindelhauer, D., Weiss, M., Hellebrand, H., Golla, A., Hergersberg, M., Seger, R., Belohradsky, B. H., Meindl, A. &lt;strong&gt;Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.&lt;/strong&gt; Hum. Genet. 98: 68-76, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8682510/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8682510&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390050162&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8682510">Schindelhauer et al. (1996)</a> found no genotype/phenotype correlation emerge after a comparison of the identified mutations with the resulting clinical picture for a classical WAS phenotype. A mild course, reminiscent of X-linked thrombocytopenia, or an attenuated phenotype was more often associated with missense than with the other types of mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8682510" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
<p><a href="#33" class="mim-tip-reference" title="Greer, W. L., Shehabeldin, A., Schulman, J., Junker, A., Siminovitch, K. A. &lt;strong&gt;Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome.&lt;/strong&gt; Hum. Genet. 98: 685-690, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8931701/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8931701&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390050285&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8931701">Greer et al. (1996)</a> examined the genotypes and phenotypes of 24 patients with WAS and compared them with other known mutations of the WASP gene. They demonstrated clustering of WASP mutations within the 4 most N-terminal exons of the gene and identified arg86 as the most prominent hotspot for WASP mutations. They noted the prominence of missense mutations among patients with milder forms of WAS, while noting that missense mutations also comprise a substantial portion of mutations in patients with severe forms of the disease. <a href="#33" class="mim-tip-reference" title="Greer, W. L., Shehabeldin, A., Schulman, J., Junker, A., Siminovitch, K. A. &lt;strong&gt;Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome.&lt;/strong&gt; Hum. Genet. 98: 685-690, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8931701/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8931701&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390050285&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8931701">Greer et al. (1996)</a> concluded that phenotypes and genotypes of WAS are not well correlated; phenotypic outcome cannot be reliably predicted on the basis of WASP genotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8931701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
<p><a href="#47" class="mim-tip-reference" title="Lemahieu, V., Gastier, J. M., Francke, U. &lt;strong&gt;Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.&lt;/strong&gt; Hum. Mutat. 14: 54-66, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10447259/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10447259&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(1999)14:1&lt;54::AID-HUMU7&gt;3.0.CO;2-E&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10447259">Lemahieu et al. (1999)</a> identified 17 WASP gene mutations, 12 of which were novel. All missense mutations were located in exons 1 to 4. Most of the nonsense, frameshift, and splice site mutations were found in exons 6 to 11. Mutations that alter splice sites led to the synthesis of several types of mRNAs, a fraction of which represented the normally spliced product. The presence of normally spliced transcripts was correlated with a milder phenotype. When one such case was studied by Western blot analysis, reduced amounts of normal-sized WASP were present. In other cases as well, a correlation was found between the amount of normal or mutant WASP present and the phenotypes of the affected individuals. No protein was detected in 2 individuals with severe Wiskott-Aldrich syndrome. Reduced levels of a normal-sized WASP with a missense mutation were seen in 2 individuals with X-linked thrombocytopenia. <a href="#47" class="mim-tip-reference" title="Lemahieu, V., Gastier, J. M., Francke, U. &lt;strong&gt;Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.&lt;/strong&gt; Hum. Mutat. 14: 54-66, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10447259/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10447259&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(1999)14:1&lt;54::AID-HUMU7&gt;3.0.CO;2-E&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10447259">Lemahieu et al. (1999)</a> concluded that mutation analysis at the DNA level is not sufficient for predicting clinical course, and that studies at the transcript and protein levels are needed for a better assessment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10447259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
<div class="mim-changed mim-change"><p>That some mutations in WASP result in X-linked thrombocytopenia without the associated features of the Wiskott-Aldrich syndrome (THC1; <a href="/entry/313900">313900</a>) is well established. <a href="#20" class="mim-tip-reference" title="Devriendt, K., Kim, A. S., Mathijs, G., Frints, S. G. M., Schwartz, M., Van den Oord, J. J., Verhoef, G. E. G., Boogaerts, M. A., Fryns, J.-P., You, D., Rosen, M. K., Vandenberghe, P. &lt;strong&gt;Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.&lt;/strong&gt; Nature Genet. 27: 313-317, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11242115/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11242115&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/85886&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11242115">Devriendt et al. (2001)</a> demonstrated, furthermore, that a constitutively activating mutation in WASP can cause X-linked severe congenital neutropenia (SCNX; <a href="/entry/300299">300299</a>). See <a href="/entry/300392#0012">300392.0012</a> for the L270P mutation in WASP demonstrated by <a href="#20" class="mim-tip-reference" title="Devriendt, K., Kim, A. S., Mathijs, G., Frints, S. G. M., Schwartz, M., Van den Oord, J. J., Verhoef, G. E. G., Boogaerts, M. A., Fryns, J.-P., You, D., Rosen, M. K., Vandenberghe, P. &lt;strong&gt;Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.&lt;/strong&gt; Nature Genet. 27: 313-317, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11242115/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11242115&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/85886&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11242115">Devriendt et al. (2001)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11242115" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
<div class="mim-changed mim-change"><p><a href="#84" class="mim-tip-reference" title="Vallee, T. C., Glasmacher, J. S., Buchner, H., Arkwright, P. D., Behrends, U., Bondarenko, A., Browning, M. J., Buchbinder, D., Cattoni, A., Chernyshova, L., Ciznar, P., Cole, T., and 43 others. &lt;strong&gt;Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.&lt;/strong&gt; Blood 143: 2504-2516, 2024.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/38579284/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;38579284&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1182/blood.2023021411&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="38579284">Vallee et al. (2024)</a> evaluated 577 individuals with Wiskott-Aldrich syndrome from 63 centers in 26 countries born between 1932 and 2014. The median age at diagnosis was 1.5 years (range, 0-68). Of these patients, 464 (80.4%) were alive at last follow-up, and the median age at last follow-up was 8.9 years (range, 0.3-71.1). This resulted in a total of 6,118 reported patient-years. Overall survival of the cohort, censored at hematopoietic stem cell transplant or gene therapy, was 82% (95% confidence interval (CI) 78-87) at age 15 years and 70% (95% CI 61-80) at 30 years. <a href="#84" class="mim-tip-reference" title="Vallee, T. C., Glasmacher, J. S., Buchner, H., Arkwright, P. D., Behrends, U., Bondarenko, A., Browning, M. J., Buchbinder, D., Cattoni, A., Chernyshova, L., Ciznar, P., Cole, T., and 43 others. &lt;strong&gt;Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.&lt;/strong&gt; Blood 143: 2504-2516, 2024.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/38579284/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;38579284&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1182/blood.2023021411&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="38579284">Vallee et al. (2024)</a> found that those with a missense variant in exon 1 or 2 or the intronic hotspot variant c.559+5G-A (<a href="/entry/300392#0016">300392.0016</a>) (called class I variants) had a better outcome than those with any other variant (class II variants). Individuals with class I variants had a 15-year odds of survival of 93% (95% CI 89-98) and a 30-year odds of survival of 91% (95% CI 86-97), compared with 71% (95% CI 62-81) and 48% (95% CI 34-68) in patients with class II variants. The cumulative incidence rates of disease-related complications such as severe bleeding (p = 0.007), life-threatening infection (p less than 0.0001), and autoimmunity (p = 0.004) occurred significantly later in patients with a class I variant. The cumulative incidence of malignancy (p = 0.6) was not different between classes I and II. <a href="#84" class="mim-tip-reference" title="Vallee, T. C., Glasmacher, J. S., Buchner, H., Arkwright, P. D., Behrends, U., Bondarenko, A., Browning, M. J., Buchbinder, D., Cattoni, A., Chernyshova, L., Ciznar, P., Cole, T., and 43 others. &lt;strong&gt;Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.&lt;/strong&gt; Blood 143: 2504-2516, 2024.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/38579284/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;38579284&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1182/blood.2023021411&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="38579284">Vallee et al. (2024)</a> concluded that their study quantified the risk for specific disease-related complications and that the class of variant is a biomarker to predict the outcome in patients with WAS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38579284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
<p><strong><em>X-Inactivation Status</em></strong>
</p>
<p><a href="#93" class="mim-tip-reference" title="Wengler, G., Gorlin, J. B., Williamson, J. M., Rosen, F. S., Bing, D. H. &lt;strong&gt;Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome.&lt;/strong&gt; Blood 85: 2471-2477, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7537115/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7537115&lt;/a&gt;]" pmid="7537115">Wengler et al. (1995)</a> stated that obligate female carriers of the gene for X-linked agammaglobulinemia (<a href="/entry/300300">300300</a>) show nonrandom X-chromosome inactivation only in B lymphocytes, and obligate female carriers of the gene for X-linked severe combined immunodeficiency (XSCID) show nonrandom X-chromosome inactivation in both T and B lymphocytes, as well as natural killer cells. However, all formed elements of the blood appear to be affected, as a rule, in obligate carriers of WAS, as judged by the criteria of nonrandom X-chromosome inactivation and segregation of G6PD alleles in informative females. <a href="#93" class="mim-tip-reference" title="Wengler, G., Gorlin, J. B., Williamson, J. M., Rosen, F. S., Bing, D. H. &lt;strong&gt;Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome.&lt;/strong&gt; Blood 85: 2471-2477, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7537115/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7537115&lt;/a&gt;]" pmid="7537115">Wengler et al. (1995)</a> demonstrated that CD34+ hematopoietic progenitor cells collected from obligate carriers of WAS by apheresis showed nonrandom inactivation. They used PCR analysis of a polymorphic VNTR within the X-linked androgen receptor gene (<a href="/entry/313700">313700</a>) to demonstrate nonrandom inactivation which clearly must occur early during hematopoietic differentiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7537115" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
<p><a href="#62" class="mim-tip-reference" title="Parolini, O., Ressmann, G., Haas, O. A., Pawlowsky, J., Gadner, H., Knapp, W., Holter, W. &lt;strong&gt;X-linked Wiskott-Aldrich syndrome in a girl.&lt;/strong&gt; New Eng. J. Med. 338: 291-295, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9445409/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9445409&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199801293380504&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9445409">Parolini et al. (1998)</a> reported X-linked WAS in an 8-year-old girl. She had a sporadic mutation, glu133 to lys, on the paternally derived X chromosome, but had nonrandom X inactivation of the maternal X chromosome in both blood and buccal mucosa. Her mother and maternal grandmother also had nonrandom X inactivation, which suggested to the authors the possibility of a defect in XIST (<a href="/entry/314670">314670</a>) or some other gene involved in the X-inactivation process. <a href="#68" class="mim-tip-reference" title="Puck, J. M., Willard, H. F. &lt;strong&gt;X inactivation in females with X-linked disease.&lt;/strong&gt; New Eng. J. Med. 338: 325-327, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9445416/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9445416&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199801293380611&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9445416">Puck and Willard (1998)</a> commented on the subject of X inactivation in females with X-linked disease in reference to the paper by <a href="#62" class="mim-tip-reference" title="Parolini, O., Ressmann, G., Haas, O. A., Pawlowsky, J., Gadner, H., Knapp, W., Holter, W. &lt;strong&gt;X-linked Wiskott-Aldrich syndrome in a girl.&lt;/strong&gt; New Eng. J. Med. 338: 291-295, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9445409/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9445409&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199801293380504&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9445409">Parolini et al. (1998)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9445416+9445409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
<p><a href="#50" class="mim-tip-reference" title="Lutskiy, M. I., Sasahara, Y., Kenney, D. M., Rosen, F. S., Remold-O&#x27;Donnell, E. &lt;strong&gt;Wiskott-Aldrich syndrome in a female.&lt;/strong&gt; Blood 100: 2763-2768, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12351383/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12351383&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1182/blood-2002-02-0388&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12351383">Lutskiy et al. (2002)</a> described a female heterozygote for a splice site mutation (<a href="/entry/300392#0017">300392.0017</a>) who presented at 14 months of age with features of WAS (thrombocytopenia, small platelets, and immunologic dysfunction) and had random inactivation of the X chromosome. She appeared to have a defect in the mechanisms that, in disease-free WAS carriers, lead to preferential survival/proliferation of cells bearing the active wildtype X chromosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12351383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#19" class="mim-tip-reference" title="Derry, J. M. J., Wiedemann, P., Blair, P., Wang, Y., Kerns, J. A., Lemahieu, V., Godfrey, V. L., Wilkinson, J. E., Francke, U. &lt;strong&gt;The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome.&lt;/strong&gt; Genomics 29: 471-477, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8666397/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8666397&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1995.9979&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8666397">Derry et al. (1995)</a> stated that Wasp may be a candidate for involvement in 'scurfy,' a T cell-mediated fatal lymphoreticular disease of mice that had previously been proposed as a mouse homolog of Wiskott-Aldrich syndrome (<a href="#51" class="mim-tip-reference" title="Lyon, M. F., Peters, J., Glenister, P. H., Ball, S., Wright, E. &lt;strong&gt;The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome.&lt;/strong&gt; Proc. Nat. Acad. Sci. 87: 2433-2437, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2320565/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2320565&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.87.7.2433&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2320565">Lyon et al., 1990</a>). Northern analysis of sf tissue samples indicated the presence of Wasp mRNA in liver and skin, presumably as a consequence of lymphocyte infiltration, but no abnormalities in the amount or size of mRNA were identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8666397+2320565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#66" class="mim-tip-reference" title="Puck, J. M., Candotti, F. &lt;strong&gt;Lessons from the Wiskott-Aldrich syndrome.&lt;/strong&gt; New Eng. J. Med. 355: 1759-1761, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17065636/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17065636&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMp068209&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17065636">Puck and Candotti (2006)</a> reviewed lessons from the Wiskott-Aldrich syndrome. Alfred Wiskott (1898-1978) was a German authority on childhood pneumonias who reported 3 affected brothers in 1937. In 1954, Robert Aldrich (1917-1998) and colleagues published an independent description of a large Dutch kindred in which segregation analysis showed X-linked recessive inheritance (<a href="#3" class="mim-tip-reference" title="Aldrich, R. A., Steinberg, A. G., Campbell, D. C. &lt;strong&gt;Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea.&lt;/strong&gt; Pediatrics 13: 133-139, 1954.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13133561/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13133561&lt;/a&gt;]" pmid="13133561">Aldrich et al., 1954</a>). By 2006, more than 160 different WAS mutations spanning all 12 exons of the gene had been found in more than 270 unrelated families and functional domains had been defined. <a href="#7" class="mim-tip-reference" title="Binder, V., Albert, M. H., Kabus, M., Bertone, M., Meindl, A., Belohradsky, B. H. &lt;strong&gt;The genotype of the original Wiskott phenotype.&lt;/strong&gt; New Eng. J. Med. 355: 1790-1793, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17065640/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17065640&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMoa062520&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17065640">Binder et al. (2006)</a> described an affected member from the family reported by <a href="#94" class="mim-tip-reference" title="Wiskott, A. &lt;strong&gt;Familiarer, angeborener Morbus Werlhofii?&lt;/strong&gt; Mschr. Kinderheilk. 68: 212-216, 1937."None>Wiskott (1937)</a> and defined the specific mutation (<a href="/entry/300392#0021">300392.0021</a>). The patient studied was a first cousin twice removed of the originally reported brothers. In a span of 2 generations, a fatal condition had become treatable. The patient had been successfully cured by transplantation by bone marrow from a matched, unrelated donor. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17065640+17065636+13133561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Blaese1971" class="mim-tip-reference" title="Blaese, R. M., Strober, W., Levy, A. L., Waldmann, T. A. &lt;strong&gt;Hypercatabolism of IgG, IgA, IgM, and albumin in the Wiskott-Aldrich syndrome: a unique disorder of serum protein metabolism.&lt;/strong&gt; J. Clin. Invest. 50: 2331-2338, 1971.">Blaese et al. (1971)</a>; <a href="#Diaz-Buxo1974" class="mim-tip-reference" title="Diaz-Buxo, J. A., Hermans, P. E., Ritts, R. E., Jr. &lt;strong&gt;Wiskott-Aldrich syndrome in an adult.&lt;/strong&gt; Mayo Clin. Proc. 49: 455-459, 1974.">Diaz-Buxo et al. (1974)</a>; <a href="#Filipovich1979" class="mim-tip-reference" title="Filipovich, A. H., Krivit, W., Kersey, J. H., Burke, B. A. &lt;strong&gt;Fatal arteritis as a complication of Wiskott-Aldrich syndrome.&lt;/strong&gt; J. Pediat. 95: 742-744, 1979.">Filipovich et al.
(1979)</a>; <a href="#Gelzer1961" class="mim-tip-reference" title="Gelzer, J., Gasser, C. &lt;strong&gt;Wiskott-Aldrich-Syndrom.&lt;/strong&gt; Helv. Paediat. Acta 16: 17-39, 1961.">Gelzer and Gasser (1961)</a>; <a href="#Hutter1981" class="mim-tip-reference" title="Hutter, J. J., Jr., Jones, J. F. &lt;strong&gt;Results of a thymic epithelial transplant in a child with Wiskott-Aldrich syndrome and central nervous system lymphoma.&lt;/strong&gt; Clin. Immun. Immunopath. 18: 121-125, 1981.">Hutter and Jones (1981)</a>; <a href="#Kapoor1981" class="mim-tip-reference" title="Kapoor, N., Kirkpatrick, D., Blaese, R. M., Oleske, J., Hilgartner, M. H., Chaganti, R. S. K., Good, R. A., O&#x27;Reilly, R. J. &lt;strong&gt;Reconstitution of normal megakaryocytopoiesis and immunologic functions in Wiskott-Aldrich syndrome by marrow transplantation following myelo-ablation and immunosuppression with busulphan and cyclophosphamide.&lt;/strong&gt; Blood 57: 692-696, 1981.">Kapoor et
al. (1981)</a>; <a href="#Knox-Macaulay1993" class="mim-tip-reference" title="Knox-Macaulay, H. H. M., Bashawri, L., Davies, K. E. &lt;strong&gt;X linked recessive thrombocytopenia.&lt;/strong&gt; J. Med. Genet. 30: 968-969, 1993.">Knox-Macaulay et al. (1993)</a>; <a href="#Krivit1959" class="mim-tip-reference" title="Krivit, W., Good, R. A. &lt;strong&gt;Aldrich&#x27;s syndrome (thrombocytopenia, eczema and infection in infants): studies of the defense mechanisms.&lt;/strong&gt; AMA J. Dis. Child. 97: 137-153, 1959.">Krivit and Good (1959)</a>; <a href="#Levin1970" class="mim-tip-reference" title="Levin, A. S., Spitler, L. E., Stiles, D. P., Fudenberg, H. H. &lt;strong&gt;Wiskott-Aldrich syndrome, a genetically determined cellular immunologic deficiency: clinical and laboratory responses to therapy with transfer factor.&lt;/strong&gt; Proc. Nat. Acad. Sci. 67: 821-828, 1970.">Levin et al. (1970)</a>; <a href="#Lum1980" class="mim-tip-reference" title="Lum, L. G., Tubergen, D. G., Corash, L., Blaese, R. M. &lt;strong&gt;Splenectomy in the management of the thrombocytopenia of the Wiskott-Aldrich syndrome.&lt;/strong&gt; New Eng. J. Med. 302: 892-896, 1980.">Lum et al. (1980)</a>; <a href="#Nathan1980" class="mim-tip-reference" title="Nathan, D. G. &lt;strong&gt;Splenectomy in the Wiskott-Aldrich syndrome. (Editorial)&lt;/strong&gt; New Eng. J. Med. 302: 916-917, 1980.">Nathan (1980)</a>; <a href="#Ochs1980" class="mim-tip-reference" title="Ochs, H. D., Slichter, S. J., Harker, L. A., Von Behrens, W. E., Clark, R. A., Wedgwood, R. J. &lt;strong&gt;The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets.&lt;/strong&gt; Blood 55: 243-252, 1980.">Ochs et al.
(1980)</a>; <a href="#Parkman1978" class="mim-tip-reference" title="Parkman, R., Rappeport, J., Geha, R., Belli, J., Cassady, R., Levey, R., Nathan, D. G., Rosen, F. S. &lt;strong&gt;Complete correction of the Wiskott-Aldrich syndrome by allogeneic bone marrow transplantation.&lt;/strong&gt; New Eng. J. Med. 298: 921-927, 1978.">Parkman et al. (1978)</a>; <a href="#Steinberg1959" class="mim-tip-reference" title="Steinberg, A. G. &lt;strong&gt;Methodology in human genetics.&lt;/strong&gt; J. Med. Educ. 34: 315-334, 1959.">Steinberg (1959)</a>; <a href="#Weiden1972" class="mim-tip-reference" title="Weiden, P. L., Blaese, R. &lt;strong&gt;Hereditary thrombocytopenia: relation to Wiskott-Aldrich syndrome with special reference to splenectomy.&lt;/strong&gt; J. Pediat. 80: 226-234, 1972.">Weiden and Blaese
(1972)</a>; <a href="#Wolff1967" class="mim-tip-reference" title="Wolff, J. A. &lt;strong&gt;Wiskott-Aldrich syndrome: clinical, immunologic, and pathologic observations.&lt;/strong&gt; J. Pediat. 70: 221-232, 1967.">Wolff (1967)</a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>REFERENCES</strong>
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<a id="Abinun1988" class="mim-anchor"></a>
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Abinun, M., Mikuska, M., Filipovic, B.
<strong>Infantile cortical hyperostosis associated with the Wiskott-Aldrich syndrome.</strong>
Europ. J. Pediat. 147: 518-519, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3044797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3044797</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3044797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00441979" target="_blank">Full Text</a>]
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<a id="Aiuti2013" class="mim-anchor"></a>
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Aiuti, A., Biasco, L., Scaramuzza, S., Ferrua, F., Cicalese, M. P., Baricordi, C., Dionisio, F., Calabria, A., Giannelli, S., Castiello, M. C., Bosticardo, M., Evangelio, C., and 28 others.
<strong>Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome.</strong>
Science 341: 1233151, 2013. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23845947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23845947</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23845947[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23845947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1126/science.1233151" target="_blank">Full Text</a>]
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<a id="Aldrich1954" class="mim-anchor"></a>
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Aldrich, R. A., Steinberg, A. G., Campbell, D. C.
<strong>Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea.</strong>
Pediatrics 13: 133-139, 1954.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13133561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13133561</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13133561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Arveiler1987" class="mim-anchor"></a>
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Arveiler, B., de Saint Basile, G., Debre, M., Fischer, A., Griscelli, C., Mandel, J. L.
<strong>Linkage analysis of the Wiskott-Aldrich syndrome (IMD2) using X-linked DNA polymorphisms. (Abstract)</strong>
Cytogenet. Cell Genet. 46: 573 only, 1987.
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<a id="Arveiler1990" class="mim-anchor"></a>
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<p class="mim-text-font">
Arveiler, B., de Saint-Basile, G., Fischer, A., Griscelli, C., Mandel, J. L.
<strong>Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.</strong>
Am. J. Hum. Genet. 46: 906-911, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1971143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1971143</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1971143" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Bach1968" class="mim-anchor"></a>
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Bach, F. H., Albertini, R. J., Anderson, J. L., Joo, P., Bortin, M.
<strong>Bone marrow transplantation in a patient with the Wiskott Aldrich syndrome.</strong>
Lancet 292: 1364-1366, 1968. Note: Originally Volume II.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4177931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4177931</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4177931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0140-6736(68)92672-x" target="_blank">Full Text</a>]
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<a id="Binder2006" class="mim-anchor"></a>
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Binder, V., Albert, M. H., Kabus, M., Bertone, M., Meindl, A., Belohradsky, B. H.
<strong>The genotype of the original Wiskott phenotype.</strong>
New Eng. J. Med. 355: 1790-1793, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17065640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17065640</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17065640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJMoa062520" target="_blank">Full Text</a>]
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<a id="Blaese1968" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Blaese, R. M., Strober, W., Brown, R. S., Waldmann, T. A.
<strong>The Wiskott-Aldrich syndrome: a disorder with a possible defect in antigen processing or recognition.</strong>
Lancet 292: 1056-1060, 1968. Note: Originally Volume I.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4172469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4172469</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4172469" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0140-6736(68)91411-6" target="_blank">Full Text</a>]
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<a id="Blaese1971" class="mim-anchor"></a>
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Blaese, R. M., Strober, W., Levy, A. L., Waldmann, T. A.
<strong>Hypercatabolism of IgG, IgA, IgM, and albumin in the Wiskott-Aldrich syndrome: a unique disorder of serum protein metabolism.</strong>
J. Clin. Invest. 50: 2331-2338, 1971.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5096517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5096517</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5096517" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1172/JCI106731" target="_blank">Full Text</a>]
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<a id="Boztug2008" class="mim-anchor"></a>
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Boztug, K., Germeshausen, M., Avedillo Diez, I., Gulacsy, V., Diestelhorst, J., Ballmaier, M., Welte, K., Marodi, L., Chernyshova, L. I., Klein, C.
<strong>Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome.</strong>
Clin. Genet. 74: 68-74, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18479478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18479478</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18479478" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2008.01019.x" target="_blank">Full Text</a>]
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<a id="Boztug2010" class="mim-anchor"></a>
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Boztug, K., Schmidt, M., Schwarzer, A., Banerjee, P. P., Diez, I. A., Dewey, R. A., Bohm, M., Nowrouzi, A., Ball, C. R., Glimm, H., Naundorf, S., Kuhlcke, K., Blasczyk, R., Kondratenko, I., Marodi, L., Orange, J. S., von Kalle, C., Klein, C.
<strong>Stem-cell gene therapy for the Wiskott-Aldrich syndrome.</strong>
New Eng. J. Med. 363: 1918-1927, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21067383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21067383</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21067383[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21067383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJMoa1003548" target="_blank">Full Text</a>]
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<a id="Brochstein1991" class="mim-anchor"></a>
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Brochstein, J. A., Gillio, A. P., Ruggiero, M., Kernan, N. A., Emanuel, D., Laver, J., Small, T., O'Reilly, R. J.
<strong>Marrow transplantation from human leukocyte antigen-identical or haploidentical donors for correction of Wiskott-Aldrich syndrome.</strong>
J. Pediat. 119: 907-912, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1960605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1960605</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1960605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(05)83041-0" target="_blank">Full Text</a>]
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<a id="Capsoni1986" class="mim-anchor"></a>
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Capsoni, F., Acerbi, L., Bonora, G., Perletti, L., Ongari, A. M., Vanoli, M., Zanussi, C.
<strong>Phagocyte function and immunological findings in a Wiskott-Aldrich syndrome long-term survivor.</strong>
J. Lab. Clin. Immun. 19: 91-97, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3754288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3754288</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3754288" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="Cooper1968" class="mim-anchor"></a>
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<p class="mim-text-font">
Cooper, M. D., Chae, H. P., Lowman, J. T., Krivit, W., Good, R. A.
<strong>Wiskott-Aldrich syndrome: an immunologic deficiency disease involving the afferent limb of immunity.</strong>
Am. J. Med. 44: 499-513, 1968.
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[<a href="https://doi.org/10.1016/0002-9343(68)90051-x" target="_blank">Full Text</a>]
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<a id="Corash1985" class="mim-anchor"></a>
<div class="">
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Corash, L., Shafer, B., Blaese, R. M.
<strong>Platelet-associated immunoglobulin, platelet size, and the effect of splenectomy in the Wiskott-Aldrich syndrome.</strong>
Blood 65: 1439-1443, 1985.
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<a id="16" class="mim-anchor"></a>
<a id="de Saint Basile1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
de Saint Basile, G., Arveiler, B., Fraser, N. F., Boyd, Y., Graig, I. W., Griscelli, G., Fischer, A.
<strong>Close linkage of hypervariable marker DXS255 to disease locus of Wiskott-Aldrich syndrome.</strong>
Lancet 334: 1319-1321, 1989. Note: Originally Volume II.
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[<a href="https://doi.org/10.1016/s0140-6736(89)91920-x" target="_blank">Full Text</a>]
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<a id="de Saint-Basile1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
de Saint-Basile, G., Schlegel, N., Caniglia, M., Le Deist, F., Kaplan, C., Lecompte, T., Piller, F., Fischer, A., Griscelli, C.
<strong>X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriers.</strong>
Ann. Hemat. 63: 107-110, 1991.
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[<a href="https://doi.org/10.1007/BF01707282" target="_blank">Full Text</a>]
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<a id="Derry1994" class="mim-anchor"></a>
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Derry, J. M. J., Ochs, H. D., Francke, U.
<strong>Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.</strong>
Cell 78: 635-644, 1994. Note: Erratum: Cell 79: following 922, 1994.
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[<a href="https://doi.org/10.1016/0092-8674(94)90528-2" target="_blank">Full Text</a>]
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<a id="Derry1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Derry, J. M. J., Wiedemann, P., Blair, P., Wang, Y., Kerns, J. A., Lemahieu, V., Godfrey, V. L., Wilkinson, J. E., Francke, U.
<strong>The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome.</strong>
Genomics 29: 471-477, 1995.
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[<a href="https://doi.org/10.1006/geno.1995.9979" target="_blank">Full Text</a>]
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<a id="Devriendt2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Devriendt, K., Kim, A. S., Mathijs, G., Frints, S. G. M., Schwartz, M., Van den Oord, J. J., Verhoef, G. E. G., Boogaerts, M. A., Fryns, J.-P., You, D., Rosen, M. K., Vandenberghe, P.
<strong>Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.</strong>
Nature Genet. 27: 313-317, 2001.
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[<a href="https://doi.org/10.1038/85886" target="_blank">Full Text</a>]
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<a id="Diaz-Buxo1974" class="mim-anchor"></a>
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Diaz-Buxo, J. A., Hermans, P. E., Ritts, R. E., Jr.
<strong>Wiskott-Aldrich syndrome in an adult.</strong>
Mayo Clin. Proc. 49: 455-459, 1974.
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<a id="Dobbs2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dobbs, A. K., Yang, T., Farmer, D. M., Howard, V., Conley, M. E.
<strong>A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS.</strong>
Clin. Genet. 71: 171-176, 2007.
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[<a href="https://doi.org/10.1111/j.1399-0004.2007.00748.x" target="_blank">Full Text</a>]
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<a id="Du2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Du, W., Kumaki, S., Uchiyama, T., Yachie, A., Looi, C. Y., Kawai, S., Minegishi, M., Ramesh, N., Geha, R. S., Sasahara, Y., Tsuchiya, S.
<strong>A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient.</strong>
Hum. Mutat. 27: 370-375, 2006.
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[<a href="https://doi.org/10.1002/humu.20308" target="_blank">Full Text</a>]
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<a id="Fearon1988" class="mim-anchor"></a>
<div class="">
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Fearon, E. R., Kohn, D. B., Winkelstein, J. A., Vogelstein, B., Blaese, R. M.
<strong>Carrier detection in the Wiskott Aldrich syndrome.</strong>
Blood 72: 1735-1739, 1988.
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</p>
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<a id="Filipovich1979" class="mim-anchor"></a>
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<p class="mim-text-font">
Filipovich, A. H., Krivit, W., Kersey, J. H., Burke, B. A.
<strong>Fatal arteritis as a complication of Wiskott-Aldrich syndrome.</strong>
J. Pediat. 95: 742-744, 1979.
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[<a href="https://doi.org/10.1016/s0022-3476(79)80726-x" target="_blank">Full Text</a>]
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<a id="Fischer1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fischer, A., Friedrich, W., Levinsky, R., Vossen, J., Griscelli, C., Kubanek, B., Morgan, G., Wagemaker, G., Landais, P.
<strong>Bone-marrow transplantation for immunodeficiencies and osteopetrosis: European survey, 1968-1985.</strong>
Lancet 328: 1080-1084, 1986. Note: Originally Volume II.
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[<a href="https://doi.org/10.1016/s0140-6736(86)90477-0" target="_blank">Full Text</a>]
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<a id="Gatti1968" class="mim-anchor"></a>
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Gatti, R. A., Meuwissen, J. J., Allen, H. D., Hong, R., Good, R. A.
<strong>Immunological reconstitution of sex-linked lymphopenic immunological deficiency.</strong>
Lancet 292: 1366-1369, 1968. Note: Originally Volume II.
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[<a href="https://doi.org/10.1016/s0140-6736(68)92673-1" target="_blank">Full Text</a>]
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<a id="Gealy1980" class="mim-anchor"></a>
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<p class="mim-text-font">
Gealy, W. J., Dwyer, J. M., Harley, J. B.
<strong>Allelic exclusion of glucose-6-phosphate dehydrogenase in platelets and T lymphocytes from a Wiskott-Aldrich syndrome carrier.</strong>
Lancet 315: 63-65, 1980. Note: Originally Volume I.
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[<a href="https://doi.org/10.1016/s0140-6736(80)90492-4" target="_blank">Full Text</a>]
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Gelzer, J., Gasser, C.
<strong>Wiskott-Aldrich-Syndrom.</strong>
Helv. Paediat. Acta 16: 17-39, 1961.
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<p class="mim-text-font">
Giliani, S., Fiorini, M., Mella, P., Candotti, F., Schumacher, R. F., Wengler, G. S., Lalatta, F., Fasth, A., Badolato, R., Ugazio, A. G., Albertini, A., Notarangelo, L. D.
<strong>Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis.</strong>
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<a id="Greer1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Greer, W. L., Mahtani, M. M., Kwong, P. C., Rubin, L. A., Peacocke, M., Willard, H. F., Siminovitch, K. A.
<strong>Linkage studies of the Wiskott-Aldrich syndrome: polymorphisms at TIMP and the X chromosome centromere are informative markers for genetic prediction.</strong>
Hum. Genet. 83: 227-230, 1989.
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[<a href="https://doi.org/10.1007/BF00285161" target="_blank">Full Text</a>]
</p>
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<a id="Greer1992" class="mim-anchor"></a>
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<p class="mim-text-font">
Greer, W. L., Peacocke, M., Siminovitch, K. A.
<strong>The Wiskott-Aldrich syndrome: refinement of the localization on Xp and identification of another closely linked marker locus, OATL1.</strong>
Hum. Genet. 88: 453-456, 1992.
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[<a href="https://doi.org/10.1007/BF00215681" target="_blank">Full Text</a>]
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<a id="Greer1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Greer, W. L., Shehabeldin, A., Schulman, J., Junker, A., Siminovitch, K. A.
<strong>Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome.</strong>
Hum. Genet. 98: 685-690, 1996.
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[<a href="https://doi.org/10.1007/s004390050285" target="_blank">Full Text</a>]
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<a id="Greer1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Greer, W. L., Somani, A.-K., Kwong, P. C., Peacocke, M., Rubin, L. A., Siminovitch, K. A.
<strong>Linkage relationships of the Wiskott-Aldrich syndrome to 10 loci in the pericentromeric region of the human X chromosome.</strong>
Genomics 6: 568-571, 1990.
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[<a href="https://doi.org/10.1016/0888-7543(90)90489-h" target="_blank">Full Text</a>]
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<a id="Gutenberger1970" class="mim-anchor"></a>
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<p class="mim-text-font">
Gutenberger, J., Trygstad, C. W., Stiehm, E. R., Opitz, J. M., Thatcher, L. G., Bloodworth, J. M. B.
<strong>Familial thrombocytopenia, elevated serum IgA and renal disease.</strong>
Am. J. Med. 49: 729-741, 1970.
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[<a href="https://doi.org/10.1016/s0002-9343(70)80055-9" target="_blank">Full Text</a>]
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<a id="Holmberg1983" class="mim-anchor"></a>
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Holmberg, L., Gustavii, B., Jonsson, A.
<strong>A prenatal study of fetal platelet count and size with application to fetus at risk for Wiskott-Aldrich syndrome.</strong>
J. Pediat. 102: 773-776, 1983.
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[<a href="https://doi.org/10.1016/s0022-3476(83)80256-x" target="_blank">Full Text</a>]
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<a id="Hutter1981" class="mim-anchor"></a>
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Hutter, J. J., Jr., Jones, J. F.
<strong>Results of a thymic epithelial transplant in a child with Wiskott-Aldrich syndrome and central nervous system lymphoma.</strong>
Clin. Immun. Immunopath. 18: 121-125, 1981.
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[<a href="https://doi.org/10.1016/0090-1229(81)90015-5" target="_blank">Full Text</a>]
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<div class="">
<p class="mim-text-font">
Kapoor, N., Kirkpatrick, D., Blaese, R. M., Oleske, J., Hilgartner, M. H., Chaganti, R. S. K., Good, R. A., O'Reilly, R. J.
<strong>Reconstitution of normal megakaryocytopoiesis and immunologic functions in Wiskott-Aldrich syndrome by marrow transplantation following myelo-ablation and immunosuppression with busulphan and cyclophosphamide.</strong>
Blood 57: 692-696, 1981.
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Knox-Macaulay, H. H. M., Bashawri, L., Davies, K. E.
<strong>X linked recessive thrombocytopenia.</strong>
J. Med. Genet. 30: 968-969, 1993.
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[<a href="https://doi.org/10.1136/jmg.30.11.968" target="_blank">Full Text</a>]
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<a id="Kolluri1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kolluri, R., Tolias, K. F., Carpenter, C. L., Rosen, F. S., Kirchhausen, T.
<strong>Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42.</strong>
Proc. Nat. Acad. Sci. 93: 5615-5618, 1996.
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[<a href="https://doi.org/10.1073/pnas.93.11.5615" target="_blank">Full Text</a>]
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Krivit, W., Good, R. A.
<strong>Aldrich's syndrome (thrombocytopenia, eczema and infection in infants): studies of the defense mechanisms.</strong>
AMA J. Dis. Child. 97: 137-153, 1959.
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[<a href="https://doi.org/10.1001/archpedi.1959.02070010139001" target="_blank">Full Text</a>]
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<a id="Kwan1995" class="mim-anchor"></a>
<div class="">
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Kwan, S.-P., Hagemann, T. L., Radtke, B. E., Blaese, R. M., Rosen, F. S.
<strong>Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.</strong>
Proc. Nat. Acad. Sci. 92: 4706-4710, 1995.
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[<a href="https://doi.org/10.1073/pnas.92.10.4706" target="_blank">Full Text</a>]
</p>
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<a id="Kwan1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kwan, S.-P., Lehner, T., Hagemann, T., Lu, B., Blaese, M., Ochs, H., Wedgwood, R., Ott, J., Craig, I. W., Rosen, F. S.
<strong>Localization of the gene for the Wiskott-Aldrich syndrome between two flanking markers, TIMP and DXS255, on Xp11.22-Xp11.3.</strong>
Genomics 10: 29-33, 1991.
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[<a href="https://doi.org/10.1016/0888-7543(91)90480-3" target="_blank">Full Text</a>]
</p>
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<a id="Kwan1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kwan, S.-P., Lehner, T., Lu, B., Raghu, G., Blaese, M., Sandkuyl, L. A., Ott, J., Fraser, N., Boyd, Y., Craig, I. W., Fischer, S., Rosen, F.
<strong>Linkage of DXS255 to the Wiskott Aldrich syndrome gene. (Abstract)</strong>
Cytogenet. Cell Genet. 51: 1027 only, 1989.
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<p class="mim-text-font">
Kwan, S.-P., Sandkuyl, L. A., Blaese, M., Kunkel, L. M., Bruns, G., Parmley, R., Skarshaug, S., Page, D. C., Ott, J., Rosen, F. S.
<strong>Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers.</strong>
Genomics 3: 39-43, 1988.
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[<a href="https://doi.org/10.1016/0888-7543(88)90156-5" target="_blank">Full Text</a>]
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<a id="Labrosse2023" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Labrosse, R., Chu, J. I., Armant, M. A., Everett, J. K., Pellin, D., Kareddy, N., Frelinger, A. L., Henderson, L. A., O'Connell, A. E., Biswas, A., Coenen-van der Spek, J., Miggelbrink, A., and 33 others.
<strong>Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome.</strong>
Blood 142: 1281-1296, 2023.
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[<a href="https://doi.org/10.1182/blood.2022019117" target="_blank">Full Text</a>]
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Lemahieu, V., Gastier, J. M., Francke, U.
<strong>Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.</strong>
Hum. Mutat. 14: 54-66, 1999.
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)14:1&lt;54::AID-HUMU7&gt;3.0.CO;2-E" target="_blank">Full Text</a>]
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<a id="Levin1970" class="mim-anchor"></a>
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<p class="mim-text-font">
Levin, A. S., Spitler, L. E., Stiles, D. P., Fudenberg, H. H.
<strong>Wiskott-Aldrich syndrome, a genetically determined cellular immunologic deficiency: clinical and laboratory responses to therapy with transfer factor.</strong>
Proc. Nat. Acad. Sci. 67: 821-828, 1970.
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[<a href="https://doi.org/10.1073/pnas.67.2.821" target="_blank">Full Text</a>]
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<a id="Lum1980" class="mim-anchor"></a>
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Lum, L. G., Tubergen, D. G., Corash, L., Blaese, R. M.
<strong>Splenectomy in the management of the thrombocytopenia of the Wiskott-Aldrich syndrome.</strong>
New Eng. J. Med. 302: 892-896, 1980.
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[<a href="https://doi.org/10.1056/NEJM198004173021604" target="_blank">Full Text</a>]
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<a id="Lutskiy2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lutskiy, M. I., Sasahara, Y., Kenney, D. M., Rosen, F. S., Remold-O'Donnell, E.
<strong>Wiskott-Aldrich syndrome in a female.</strong>
Blood 100: 2763-2768, 2002.
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[<a href="https://doi.org/10.1182/blood-2002-02-0388" target="_blank">Full Text</a>]
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<a id="Lyon1990" class="mim-anchor"></a>
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Lyon, M. F., Peters, J., Glenister, P. H., Ball, S., Wright, E.
<strong>The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome.</strong>
Proc. Nat. Acad. Sci. 87: 2433-2437, 1990.
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[<a href="https://doi.org/10.1073/pnas.87.7.2433" target="_blank">Full Text</a>]
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McEnery, G., Nash, F. W.
<strong>Wiskott-Aldrich syndrome associated with idiopathic infantile cortical hyperostosis (Caffey's disease).</strong>
Arch. Dis. Child. 48: 818-821, 1973.
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[<a href="https://doi.org/10.1136/adc.48.10.818" target="_blank">Full Text</a>]
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<a id="Mentzer1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mentzer, S. J., Remold-O'Donnell, E., Crimmins, M. A. V., Bierer, B. E., Rosen, F. S., Burakoff, S. J.
<strong>Sialophorin, a surface sialoglycoprotein defective in the Wiskott-Aldrich syndrome, is involved in human T lymphocyte proliferation.</strong>
J. Exp. Med. 165: 1383-1392, 1987.
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[<a href="https://doi.org/10.1084/jem.165.5.1383" target="_blank">Full Text</a>]
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<a id="Meropol1992" class="mim-anchor"></a>
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<p class="mim-text-font">
Meropol, N. J., Hicks, D., Brooks, J. J., Siminovitch, K. A., Fishman, N. O., Kant, J. A., Bennett, J. S.
<strong>Coincident Kaposi sarcoma and T-cell lymphoma in a patient with the Wiskott-Aldrich syndrome.</strong>
Am. J. Hemat. 40: 126-134, 1992.
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[<a href="https://doi.org/10.1002/ajh.2830400210" target="_blank">Full Text</a>]
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<a id="Nathan1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Nathan, D. G.
<strong>Splenectomy in the Wiskott-Aldrich syndrome. (Editorial)</strong>
New Eng. J. Med. 302: 916-917, 1980.
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[<a href="https://doi.org/10.1056/NEJM198004173021610" target="_blank">Full Text</a>]
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<a id="Notarangelo1993" class="mim-anchor"></a>
<div class="">
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Notarangelo, L. D., Candotti, F., Parolini, O., Mantuano, E., Giliani, S., Lanfranchi, A., Albertini, A.
<strong>Application of molecular analysis to genetic counseling in the Wiskott-Aldrich syndrome (WAS).</strong>
DNA Cell Biol. 12: 645-649, 1993.
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[<a href="https://doi.org/10.1089/dna.1993.12.645" target="_blank">Full Text</a>]
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<a id="Notarangelo1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Notarangelo, L. D., Parolini, O., Faustini, R., Porteri, V., Albertini, A., Ugazio, A. G.
<strong>Presentation of Wiskott-Aldrich syndrome as isolated thrombocytopenia. (Letter)</strong>
Blood 77: 1125-1126, 1991.
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<a id="Notarangelo1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Notarangelo, L. D., Parolini, O., Porta, F., Locatelli, F., Lanfranchi, A., Marconi, M., Nespoli, L., Albertini, A., Craig, I. W., Ugazio, A. G.
<strong>Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS.</strong>
Hum. Genet. 88: 237-241, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1684569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1684569</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1684569" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00206081" target="_blank">Full Text</a>]
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<a id="Ochs1980" class="mim-anchor"></a>
<div class="">
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Ochs, H. D., Slichter, S. J., Harker, L. A., Von Behrens, W. E., Clark, R. A., Wedgwood, R. J.
<strong>The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets.</strong>
Blood 55: 243-252, 1980.
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<a id="Parkman1981" class="mim-anchor"></a>
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<p class="mim-text-font">
Parkman, R., Kenney, D. M., Remold-O'Donnell, E., Perrine, S., Rosen, F. S.
<strong>Surface protein abnormalities in lymphocytes and platelets from patients with Wiskott-Aldrich syndrome.</strong>
Lancet 318: 1387-1389, 1981. Note: Originally Volume II.
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[<a href="https://doi.org/10.1016/s0140-6736(81)92802-6" target="_blank">Full Text</a>]
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Parkman, R., Rappeport, J., Geha, R., Belli, J., Cassady, R., Levey, R., Nathan, D. G., Rosen, F. S.
<strong>Complete correction of the Wiskott-Aldrich syndrome by allogeneic bone marrow transplantation.</strong>
New Eng. J. Med. 298: 921-927, 1978.
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[<a href="https://doi.org/10.1056/NEJM197804272981701" target="_blank">Full Text</a>]
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<strong>X-linked Wiskott-Aldrich syndrome in a girl.</strong>
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[<a href="https://doi.org/10.1056/NEJM199801293380504" target="_blank">Full Text</a>]
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<strong>Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome.</strong>
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[<a href="https://doi.org/10.1073/pnas.84.10.3430" target="_blank">Full Text</a>]
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Perry, G. S., III, Spector, B. D., Schuman, L. M., Mandel, J. S., Anderson, V. E., McHugh, R. B., Hanson, M. R., Fahlstrom, S. M., Krivit, W., Kersey, J. H.
<strong>The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979).</strong>
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[<a href="https://doi.org/10.1016/s0022-3476(80)80133-8" target="_blank">Full Text</a>]
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Prchal, J. T., Carroll, A. J., Prchal, J. F., Crist, W. M., Skalka, H. W., Gealy, W. J., Harley, J., Malluh, A.
<strong>Wiskott-Aldrich syndrome: cellular impairments and their implication for carrier detection.</strong>
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[<a href="https://doi.org/10.1056/NEJMp068209" target="_blank">Full Text</a>]
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<strong>Atypical presentation of Wiskott-Aldrich syndrome: diagnosis in two unrelated males based on studies of maternal T cell X chromosome inactivation.</strong>
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<strong>X inactivation in females with X-linked disease.</strong>
New Eng. J. Med. 338: 325-327, 1998.
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[<a href="https://doi.org/10.1056/NEJM199801293380611" target="_blank">Full Text</a>]
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<strong>Characterization of a human lymphocyte surface sialoglycoprotein that is defective in Wiskott-Aldrich syndrome.</strong>
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[<a href="https://doi.org/10.1084/jem.159.6.1705" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1080/080352501317130461" target="_blank">Full Text</a>]
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<strong>Mechanism of recruitment of WASP to the immunological synapse and of its activation following TCR ligation.</strong>
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[<a href="https://doi.org/10.1016/s1097-2765(02)00728-1" target="_blank">Full Text</a>]
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Schindelhauer, D., Weiss, M., Hellebrand, H., Golla, A., Hergersberg, M., Seger, R., Belohradsky, B. H., Meindl, A.
<strong>Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.</strong>
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[<a href="https://doi.org/10.1007/s004390050162" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(89)92026-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(78)90419-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1046/j.1365-2141.1999.01508.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI116006" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(05)82002-5" target="_blank">Full Text</a>]
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<strong>Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization.</strong>
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[<a href="https://doi.org/10.1016/s0092-8674(00)81050-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(66)80450-x" target="_blank">Full Text</a>]
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<strong>Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.</strong>
Blood Cells Molec. Dis. 25: 218-226, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10575547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10575547</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10575547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1006/bcmd.1999.0247" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="84" class="mim-anchor"></a>
<a id="Vallee2024" class="mim-anchor"></a>
<div class="mim-changed mim-change">
<p class="mim-text-font">
Vallee, T. C., Glasmacher, J. S., Buchner, H., Arkwright, P. D., Behrends, U., Bondarenko, A., Browning, M. J., Buchbinder, D., Cattoni, A., Chernyshova, L., Ciznar, P., Cole, T., and 43 others.
<strong>Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.</strong>
Blood 143: 2504-2516, 2024.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38579284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38579284</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38579284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1182/blood.2023021411" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="85" class="mim-anchor"></a>
<a id="Van den Bosch1964" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Van den Bosch, J., Drukker, J.
<strong>Het Syndroom van Aldrich: een klinisch en genetisch Onderzoek van enige nederlandse Families.</strong>
Maandschr. Kindergeneesk. 32: 359-373, 1964.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14228682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14228682</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14228682" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="86" class="mim-anchor"></a>
<a id="Villa1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Villa, A., Notarangelo, L., Macchi, P., Mantuano, E., Cavagni, G., Brugnoni, D., Strina, D., Patrosso, M. C., Ramenghi, U., Sacco, M. G., Ugazio, A., Vezzoni, P.
<strong>X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.</strong>
Nature Genet. 9: 414-417, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7795648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7795648</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7795648" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng0495-414" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="87" class="mim-anchor"></a>
<a id="Wada2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wada, T., Konno, A., Schurman, S. H., Garabedian, E. K., Anderson, S. M., Kirby, M., Nelson, D. L., Candotti, F.
<strong>Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings.</strong>
J. Clin. Invest. 111: 1389-1397, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12727931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12727931</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12727931[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12727931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1172/JCI15485" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="88" class="mim-anchor"></a>
<a id="Wada2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wada, T., Schurman, S. H., Jagadeesh, G. J., Garabedian, E. K., Nelson, D. L., Candotti, F.
<strong>Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family.</strong>
Blood 104: 1270-1272, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15142877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15142877</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15142877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1182/blood-2004-03-0846" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="89" class="mim-anchor"></a>
<a id="Wada2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wada, T., Schurman, S. H., Otsu, M., Garabedian, E. K., Ochs, H. D., Nelson, D. L., Candotti, F.
<strong>Somatic mosaicism in Wiskott-Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.</strong>
Proc. Nat. Acad. Sci. 98: 8697-8702, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11447283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11447283</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11447283[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11447283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.151260498" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="90" class="mim-anchor"></a>
<a id="Waisfisz1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Waisfisz, Q., Morgan, N. V., Savino, M., de Winter, J. P., van Berkel, C. G. M., Hoatlin, M. E., Ianzano, L., Gibson, R. A., Arwert, F., Savoia, A., Mathew, C. G., Pronk, J. C., Joenje, H.
<strong>Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism.</strong>
Nature Genet. 22: 379-383, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431244</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10431244" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/11956" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="91" class="mim-anchor"></a>
<a id="Webb1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Webb, M. C., Andrews, P. A., Koffman, C. G., Cameron, J. S.
<strong>Renal transplantation in Wiskott-Aldrich syndrome.</strong>
Transplantation 56: 1585, 1993. Note: Corrected and republished from Transplantation 56: 747-748, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8279047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8279047</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8279047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="92" class="mim-anchor"></a>
<a id="Weiden1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Weiden, P. L., Blaese, R.
<strong>Hereditary thrombocytopenia: relation to Wiskott-Aldrich syndrome with special reference to splenectomy.</strong>
J. Pediat. 80: 226-234, 1972.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4550450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4550450</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4550450" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(72)80583-3" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="93" class="mim-anchor"></a>
<a id="Wengler1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wengler, G., Gorlin, J. B., Williamson, J. M., Rosen, F. S., Bing, D. H.
<strong>Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome.</strong>
Blood 85: 2471-2477, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7537115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7537115</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7537115" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="94" class="mim-anchor"></a>
<a id="Wiskott1937" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wiskott, A.
<strong>Familiarer, angeborener Morbus Werlhofii?</strong>
Mschr. Kinderheilk. 68: 212-216, 1937.
</p>
</div>
</li>
<li>
<a id="95" class="mim-anchor"></a>
<a id="Wolff1967" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wolff, J. A.
<strong>Wiskott-Aldrich syndrome: clinical, immunologic, and pathologic observations.</strong>
J. Pediat. 70: 221-232, 1967.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4163503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4163503</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4163503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(67)80417-7" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="96" class="mim-anchor"></a>
<a id="Yamada2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yamada, M., Ariga, T., Kawamura, N., Yamaguchi, K., Ohtsu, M., Nelson, D. L., Kondoh, T., Kobayashi, I., Okano, M., Kobayashi, K., Sakiyama, Y.
<strong>Determination of carrier status for the Wiskott-Aldrich syndrome by flow cytometric analysis of Wiskott-Aldrich syndrome protein expression in peripheral blood mononuclear cells.</strong>
J. Immun. 165: 1119-1122, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10878391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10878391</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10878391" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.4049/jimmunol.165.2.1119" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="97" class="mim-anchor"></a>
<a id="Yamada1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yamada, M., Ohtsu, M., Kobayashi, I., Kawamura, N., Kobayashi, K., Ariga, T., Sakiyama, Y., Nelson, D. L., Tsuruta, S., Anakura, M., Ishikawa, N.
<strong>Flow cytometric analysis of Wiskott-Aldrich syndrome (WAS) protein in lymphocytes from WAS patients and their familial carriers.</strong>
Blood 93: 756-759, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10215346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10215346</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10215346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
</ol>
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</div>
</div>
<div>
<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
Ada Hamosh - updated : 01/07/2025
</span>
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Hilary J. Vernon - updated : 01/19/2024<br>Ada Hamosh - updated : 01/06/2014<br>Ada Hamosh - updated : 11/11/2010<br>Cassandra L. Kniffin - updated : 4/27/2009<br>Marla J. F. O'Neill - updated : 11/21/2007<br>Victor A. McKusick - updated : 11/30/2006<br>Victor A. McKusick - updated : 6/13/2006<br>Victor A. McKusick - updated : 12/27/2004<br>Victor A. McKusick - updated : 1/10/2003<br>Cassandra L. Kniffin - reorganized : 5/13/2002<br>Paul J. Converse - updated : 2/21/2002<br>Victor A. McKusick - updated : 8/10/2001<br>Sonja A. Rasmussen - updated : 6/8/2001<br>Victor A. McKusick - updated : 5/18/2001<br>Victor A. McKusick - updated : 2/28/2001<br>Paul J. Converse - updated : 9/21/2000<br>Ada Hamosh - updated : 5/16/2000<br>Victor A. McKusick - updated : 1/19/2000<br>Victor A. McKusick - updated : 8/16/1999<br>Victor A. McKusick - updated : 6/18/1999<br>Victor A. McKusick - updated : 11/4/1998<br>Ada Hamosh - updated : 4/23/1998<br>Jennifer P. Macke - updated : 6/9/1997<br>Cynthia K. Ewing - updated : 10/14/1996<br>Alan F. Scott - updated : 4/23/1996<br>Moyra Smith - updated : 4/22/1996
</span>
</div>
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<div>
<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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<span class="mim-text-font">
Victor A. McKusick : 6/4/1986
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alopez : 01/07/2025
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carol : 01/23/2024<br>carol : 01/19/2024<br>carol : 05/05/2021<br>alopez : 02/19/2021<br>carol : 08/13/2020<br>carol : 08/12/2020<br>carol : 06/04/2019<br>carol : 11/14/2017<br>alopez : 10/14/2016<br>alopez : 01/06/2014<br>terry : 3/28/2013<br>mgross : 2/23/2012<br>terry : 1/27/2012<br>carol : 6/7/2011<br>alopez : 11/16/2010<br>terry : 11/11/2010<br>wwang : 5/13/2009<br>ckniffin : 4/27/2009<br>terry : 3/27/2009<br>carol : 11/26/2007<br>terry : 11/21/2007<br>alopez : 12/8/2006<br>terry : 11/30/2006<br>alopez : 6/13/2006<br>tkritzer : 12/27/2004<br>tkritzer : 2/18/2004<br>tkritzer : 1/23/2003<br>tkritzer : 1/13/2003<br>terry : 1/10/2003<br>carol : 5/13/2002<br>ckniffin : 5/10/2002<br>ckniffin : 5/9/2002<br>mgross : 2/21/2002<br>carol : 2/12/2002<br>mcapotos : 8/15/2001<br>mcapotos : 8/14/2001<br>mcapotos : 8/10/2001<br>mcapotos : 6/8/2001<br>mcapotos : 6/8/2001<br>mcapotos : 5/25/2001<br>terry : 5/18/2001<br>alopez : 3/5/2001<br>alopez : 3/1/2001<br>terry : 2/28/2001<br>mgross : 9/21/2000<br>alopez : 5/16/2000<br>alopez : 5/16/2000<br>mcapotos : 1/27/2000<br>mcapotos : 1/27/2000<br>terry : 1/19/2000<br>alopez : 8/24/1999<br>jlewis : 8/24/1999<br>terry : 8/16/1999<br>jlewis : 6/30/1999<br>terry : 6/18/1999<br>terry : 5/20/1999<br>dkim : 11/13/1998<br>carol : 11/12/1998<br>carol : 11/12/1998<br>terry : 11/4/1998<br>dkim : 9/10/1998<br>dkim : 9/10/1998<br>dkim : 7/21/1998<br>alopez : 6/9/1998<br>alopez : 4/23/1998<br>jenny : 8/27/1997<br>mark : 7/8/1997<br>jamie : 10/18/1996<br>jamie : 10/16/1996<br>jamie : 10/16/1996<br>jamie : 10/14/1996<br>mark : 8/12/1996<br>terry : 7/16/1996<br>terry : 7/15/1996<br>mark : 6/25/1996<br>terry : 6/25/1996<br>mark : 6/19/1996<br>terry : 6/11/1996<br>carol : 4/26/1996<br>mark : 4/23/1996<br>carol : 4/22/1996<br>mark : 2/5/1996<br>mark : 1/8/1996<br>mark : 10/25/1995<br>terry : 7/28/1995<br>carol : 12/14/1994<br>davew : 7/6/1994<br>pfoster : 7/1/1994<br>jason : 6/17/1994
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<h3>
<span class="mim-font">
<strong>#</strong> 301000
</span>
</h3>
</div>
<div>
<h3>
<span class="mim-font">
WISKOTT-ALDRICH SYNDROME; WAS
</span>
</h3>
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<div>
<br />
</div>
<div>
<div >
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
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<div>
<h4>
<span class="mim-font">
WISKOTT-ALDRICH SYNDROME 1; WAS1<br />
ALDRICH SYNDROME<br />
ECZEMA-THROMBOCYTOPENIA-IMMUNODEFICIENCY SYNDROME<br />
IMMUNODEFICIENCY 2; IMD2
</span>
</h4>
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<p>
<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 36070007; &nbsp;
<strong>ICD10CM:</strong> D82.0; &nbsp;
<strong>ICD9CM:</strong> 279.12; &nbsp;
<strong>ORPHA:</strong> 906; &nbsp;
<strong>DO:</strong> 9169; &nbsp;
</span>
</p>
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<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
Xp11.23
</span>
</td>
<td>
<span class="mim-font">
Wiskott-Aldrich syndrome
</span>
</td>
<td>
<span class="mim-font">
301000
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</td>
<td>
<span class="mim-font">
X-linked recessive
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<td>
<span class="mim-font">
3
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</td>
<td>
<span class="mim-font">
WAS
</span>
</td>
<td>
<span class="mim-font">
300392
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</td>
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</tbody>
</table>
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<h4>
<span class="mim-font">
<strong>TEXT</strong>
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</h4>
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because Wiskott-Aldrich syndrome (WAS) is caused by mutation in the WAS gene (300392) on chromosome Xp11.</p>
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<h4>
<span class="mim-font">
<strong>Description</strong>
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</h4>
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<span class="mim-text-font">
<p>Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections (Lemahieu et al., 1999). </p><p><strong><em>Genetic Heterogeneity of Wiskott-Aldrich Syndrome</em></strong></p><p>
See Wiskott-Aldrich syndrome-2 (WAS2; 614493), caused by mutation in the WIPF1 gene (602357). Also see 600903 for a possible autosomal dominant form of the disorder.</p>
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<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
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</h4>
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<span class="mim-text-font">
<p>The manifestations of Wiskott-Aldrich syndrome are eczema, thrombocytopenia, proneness to infection, and bloody diarrhea. Death usually occurs before age 10 years. The original American kindred reported by Aldrich et al. (1954) was of Dutch extraction; the 3 patients of Wiskott (1937) were German. Wiskott, who worked in Munich, referred to the disorder in his patients as 'Werlhof's disease,' the eponymic designation for thrombocytopenic purpura. Van den Bosch and Drukker (1964) described several families in the Netherlands. In 3 of 5 female carriers, the platelet count was below the lower limit of normal. </p><p>Perry et al. (1980) reported that median survival increased from 8 months for patients born before 1935 to 6.5 years for those born after 1964. One patient had survived to age 36 years at the time of the survey. Causes of death were mainly infections or bleeding, but 36 of the 301 patients (12%) developed malignancies: lymphoreticular tumors in 23 and leukemia in 7. Ten Bensel et al. (1966) called attention to the occurrence of malignancy of the reticuloendothelial system, which they saw in 2 of 4 sibs and found in 5 reported cases. </p><p>Capsoni et al. (1986) described a 19-year-old man with WAS. Only 7 affected persons over age 18 had been described previously. Standen et al. (1986) reported a kindred with 13 males in 6 sibships, related through females, with inherited thrombocytopenia thought to be a variant of WAS because it was associated with elevated serum IgA and mild nephropathy. Five suffered from severe eczema since infancy but had no unusual susceptibility to infections. Platelet volume was reduced. Gutenberger et al. (1970) reported a similar family. Renal biopsy was performed in 3 patients. In the first, advanced membranoproliferative glomerulonephritis was found with deposition of complement and IgG on the basement membrane. In the second, mesangial glomerulonephritis with focal glomerulosclerosis and deposition of complement and IgA were found. The third showed minimal glomerulonephritis. Standen et al. (1986) concluded that despite the clinical similarities and the elevated IgA in both conditions, the disorder is distinct from Berger disease (161950). Spitler et al. (1980) found nephropathy in 5 of 32 patients with WAS who participated in a study of treatment with transfer factor, a dialyzable extract of leukocytes that enhances cellular immunity. Although nephropathy occurred without such treatment, the temporal relationships suggested that transfer factor aggravated the problem. </p><p>McEnery and Nash (1973) described 2 unrelated males with the association of WAS and infantile cortical hyperostosis (Caffey disease; 114000), and Abinun et al. (1988) also described a case. Thus, an immunologic defect may play a role in the pathogenesis of infantile cortical hyperostosis. Meropol et al. (1992) reported the case of a 24-year-old man with WAS complicated by T-cell large cell lymphoma and Kaposi sarcoma (148000). Kaposi sarcoma is well known in connection with the immunosuppression used with allograft transplantation and in patients with HIV infection, but this was the first incidence of its occurrence in this form of immunodeficiency. </p><p>Sullivan et al. (1994) reported on a multiinstitutional survey of WAS in the U.S. in which laboratory and clinical data were collected on 154 affected individuals. There was a family history of the disorder in the case of 74 of the patients. Thrombocytopenia was a prerequisite for entry into the study; however, only 27% of patients had the typical set of 3 symptoms described originally by Aldrich et al. (1954). The immunologic findings in particular varied considerably with the most distinctive finding: that 61% of the patients had a low CD8+ count. Eczema developed in 81% but was not always present at diagnosis. In those patients in whom platelet size was measured, Sullivan et al. (1994) found them to be small, although they did increase in size following splenectomy. The average age at diagnosis was 21 months; the average age at death was 8 years. There were 16 patients who lived beyond 18 years, and the prognosis for the disorder had improved considerably in recent years. Bone marrow transplantation had been carried out in 47 cases and a good outcome was reported in two-thirds of them. Autoimmune disorders occurred in 40% of patients; this group had a poor prognosis as they were more likely to develop a malignancy. Malignancies were seen in 13% of patients and were mainly of the lymphoreticular system. </p><p>Du et al. (2006) described somatic mosaicism in a 15-year-old male WAS patient due to a second-hit mutation in the initiation codon. See 300392.0019-300392.0020. The patient had no clear family history. Thrombocytopenia was noticed at 1 month of age and thereafter eczema and recurrent infections were clinical features. At 8 years of age, he had persistent cough due to pulmonary hilar lymph node swelling. From the result of hilar lymph node biopsy, he was diagnosed with Hodgkin disease and received chemotherapy and local radiotherapy (Sasahara et al., 2001; Sasahara et al., 2002). The patient had remained in complete remission thereafter. His platelet count was in the range of 6,000-15,000/microliter. Episodes of respiratory infections occurred less frequently, although severe eczema and thrombocytopenia persisted. </p>
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<h4>
<span class="mim-font">
<strong>Diagnosis</strong>
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</h4>
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<span class="mim-text-font">
<p>In an obligate heterozygote who was heterozygous for the AB polymorphism of G6PD, Gealy et al. (1980) found that only the B isoenzyme was present in platelets and T lymphocytes, although both were present in erythrocytes and neutrophils. Prchal et al. (1980) pursued the implications of this finding for genetic counseling. Although G6PD is likely to be useful in only a limited number of potential carriers, the large number of X-chromosome markers, DNA polymorphisms and other markers now available make it likely that carrier detection will be possible. Shapiro et al. (1978) concluded that carriers can be identified by study of platelets, which show a defect in oxidative phosphorylation. </p><p>Fearon et al. (1988) studied the pattern of X-chromosome inactivation in various cell populations from female relatives of patients with WAS, through analysis of the methylation patterns of X-linked genes that display RFLPs. They found that carriers could be accurately identified by the fact that peripheral blood T cells, granulocytes, and B cells of obligate heterozygotes display specific patterns of X-chromosome inactivation that are clearly different from those of normal controls. </p><p>Puck et al. (1990) pointed out that the diagnosis of WAS may be difficult in infancy when sporadic thrombocytopenia with no, or only questionable, immunologic abnormalities are present. In the case of 2 unrelated males with this problem, X-chromosome inactivation in the T cells of the mothers showed each of them to have a highly skewed X-chromosome inactivation pattern typical of WAS carriers. In one of the patients, a T-cell defect was subsequently demonstrated directly by studies of the lymphocytes, which failed to proliferate in periodate and anti-CD43. Notarangelo et al. (1991) reported a similar case of a boy with WAS presenting as idiopathic thrombocytopenia. </p><p>Notarangelo et al. (1991) studied a presumably heterozygous, thrombocytopenic female from a WAS pedigree. Her carrier status was confirmed by linkage studies. Both small-sized and normal-sized platelets were present, suggesting that, unlike the vast majority of WAS carriers, she did not manifest nonrandom X-chromosome inactivation in the thrombopoietic cell lineage. Studies of X-chromosome inactivation by means of RFLP and methylation analysis showed that the pattern of X-chromosome inactivation was nonrandom in T lymphocytes but random in granulocytes. Notarangelo et al. (1993) reviewed the use of the biased inactivation of the X chromosome in hematopoietic cells as a tool for carrier detection in connection with genetic counseling. A closely linked hypervariable marker, M27-beta (DXS255), was used. </p><p>Yamada et al. (1999) showed that flow cytometric analysis of WASP expression in lymphocytes is useful in the diagnosis of WAS. They found that intracellular WASP is expressed as distinctly 'bright' and 'dim' phenotypes in lymphocytes from normal individuals and WAS patients, respectively. Yamada et al. (2000) demonstrated that WAS carriers could also be identified by flow cytometric analysis of monocytes but not lymphocytes. Bright and dim phenotypes for normal individuals and patients, respectively, were observed in monocytes, whereas in carriers, mixed populations (to varying degrees) of bright- and dim-staining cells were detected. The authors noted that flow cytometry is a simpler and more rapid method of diagnosis than molecular methods but may not be sensitive enough to detect carriers with low percentages of WASP-dim monocytes. </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
Holmberg et al. (1983) found that normal midtrimester fetuses have platelets of the same size as normal newborns and adults. They used these data 'to exclude Wiskott-Aldrich syndrome in an 18-week fetus at 50% risk of being affected.' Unfortunately, we do not know that the platelets of the WAS fetus are abnormally small. </p><p>Schwartz et al. (1989) described the first-trimester diagnosis and exclusion of WAS by means of closely linked DNA markers. </p><p>In 2 unrelated families, Giliani et al. (1999) performed successful prenatal diagnosis of WAS at week 12 of gestation, using a combined nonradioactive analysis of SSCP and heteroduplex formation, followed by automated sequencing. </p>
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<div>
<h4>
<span class="mim-font">
<strong>Clinical Management</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Corash et al. (1985) studied the mechanism of the usual improvement in thrombocytopenia in WAS after splenectomy. The thrombocytopenia is accompanied by elevated platelet-associated IgG and low mean platelet size. Both return to normal after splenectomy. Patients who relapse redevelop elevated IgG but maintain normal platelet size. </p><p>Webb et al. (1993) described their experience with renal transplantation in a 46-year-old man with the syndrome of thrombocytopenia with raised IgA levels and impaired renal function. The man had a strong family history of hereditary thrombocytopenia and had presented in early childhood with allergic eczema, asthma, thrombocytopenic purpura, and recurrent middle ear infections. He had a normal platelet count after splenectomy was performed at the age of about 30. In his mid-thirties, he had subtotal colectomy and ileostomy for severe ulcerative colitis. This disorder later recurred, associated with keratitis and arthritis of large joints. He was later admitted to the hospital with a febrile illness, biopsy-proven cutaneous vasculitis, raised IgA levels, and impaired renal function. Renal biopsy demonstrated mesangioproliferative glomerulonephritis, old crescents, and mesangial IgA deposition. After renal transplant, a 'reduced immunosuppressive protocol' was instituted because of his underlying immunologic disorder. Despite this, no rejection episodes occurred. </p><p>The first reports of successful bone marrow transplantation for severe combined immunodeficiency (XSCID; 300400) and for WAS were provided by Gatti et al. (1968) and Bach et al. (1968). Fischer et al. (1986) gave a retrospective analysis of results in 162 patients who had undergone transplantation in 14 European centers between 1969 and 1985. Brochstein et al. (1991) reported on the bone marrow transplantation in 17 patients with WAS. </p><p>Boztug et al. (2010) reported successful treatment of 2 patients with Wiskott-Aldrich syndrome with transfusion of autologous, genetically modified hematopoietic stem cells. They found sustained expression of WAS protein expression in hematopoietic stem cells, lymphoid and myeloid cells, and platelets after gene therapy. T and B cells, natural killer cells, and monocytes were functionally corrected. After treatment, the patients' clinical condition markedly improved, with resolution of hemorrhagic diathesis, eczema, autoimmunity, and predisposition to severe infection. Comprehensive insertion-site analysis showed vector integration that targeted multiple genes controlling growth and immunologic responses in a persistently polyclonal hematopoiesis that was followed for 3 years in both boys. </p><p>Aiuti et al. (2013) reported 3 patients with Wiskott-Aldrich syndrome treated with lentiviral gene-corrected hematopoietic stem cells (HSCs) after pretreatment with a reduced-intensity myeloablative regimen. Administration of autologous HSCs transduced with lentivirus at high efficiency (greater than 90%) resulted in robust (25 to 50%), stable, and long-term engraftment of gene-corrected HSCs in the patients' bone marrow. In all 3 patients, Aiuti et al. (2013) observed improved platelet counts, protection from bleeding and severe infections, and resolution of eczema. In contrast to gamma-retroviral gene therapy, lentiviral-based therapy did not induce in vivo selection of clones carrying integrations near oncogenes. Consistent with this, Aiuti et al. (2013) did not see evidence of clonal expansions in the patients for up to 20 to 32 months after gene therapy. </p><p>Labrosse et al. (2023) reported the outcome of a phase 1/2 open-label clinical trial in 5 patients with WAS treated with lentiviral-mediated gene therapy targeted to autologous CD43+ cells. After a median follow-up of 7.4 years, the patients experienced improved humoral and cellular immunity, improved eczema, and improved bleeding diathesis. Two of the patients who had autoimmune manifestations of disease prior to gene therapy experienced recurrence of autoimmune manifestations after gene therapy. These 2 patients had poor recovery of regulatory T cells (Tregs) and interleukin 10 (IL10; 124092)-producing regulatory B cells (Bregs), leading Labrosse et al. (2023) to conclude that Bregs and Tregs are protective against autoimmunity. </p>
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<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
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</h4>
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<span class="mim-text-font">
<p>Perry et al. (1980) found that WAS had an incidence of 4.0 per million live male births in the United States. </p>
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<h4>
<span class="mim-font">
<strong>Pathogenesis</strong>
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</h4>
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<span class="mim-text-font">
<p>Several groups (Blaese et al., 1968; Cooper et al., 1968) presented evidence that the immune defect is in the afferent limb, i.e., is one of antigen processing or recognition. In an obligate heterozygote who was heterozygous for the AB polymorphism of G6PD (305900), Gealy et al. (1980) found that only the B isoenzyme was present in platelets and T lymphocytes, although both were present in erythrocytes and neutrophils. The findings suggested selection against the WAS gene in these tissues, which are also the ones that express the defect in the hemizygous affected male. </p><p>Parkman et al. (1981) studied the surface proteins of lymphocytes and platelets by radioiodination followed by SDS-polyacrylamide gel electrophoresis and autoradiography. All 3 WAS patients studied showed, in lymphocytes, absence of a protein, molecular weight 115,000, found in normals. Platelets also showed an abnormality of surface glycoproteins. CD43 (182160), or sialophorin, is a cell-surface sialoglycoprotein that is deficient in quantity and/or is defective in lymphocytes of patients with this disorder (Parkman et al., 1981; Remold-O'Donnell et al., 1984). Mentzer et al. (1987) suggested that sialophorin functions in T-cell activation. </p><p>Simon et al. (1992) presented experimental results indicating the association of WAS with a defect in the coupling of surface immunoglobulin (sIg) on B cells to signal transduction pathways considered prerequisite for B-cell activation, probably at the level of tyrosine phosphorylation. </p><p>Symons et al. (1996) proposed that the Wiskott-Aldrich protein provides a link between CDC42 and the actin cytoskeleton. T lymphocytes of affected males with WAS exhibit a severe disturbance of the actin cytoskeleton, suggesting that the WAS protein may regulate its organization. Kolluri et al. (1996) showed that WAS protein interacts with Cdc42, a member of the RHO family of GTPases. This interaction, which is GTP-dependent, was detected in cell lysates, in transient transfections, and with purified recombinant proteins. Different mutant WAS proteins from 3 unrelated affected males retained their ability to interact with Cdc42 but the level of expression of the WAS protein in these mutants was only 2 to 5% of normal. Taken together, these data suggested to Kolluri et al. (1996) that the WAS protein may function as a signal transduction adaptor downstream of Cdc42, and that, in affected males, the cytoskeletal abnormalities may result from a defect in Cdc42 signaling. </p><p>Shcherbina et al. (1999) demonstrated a decrease in platelet moesin (309845) in patients with Wiskott-Aldrich syndrome. This appeared to be a secondary defect to the primary defect in the WASP gene. </p>
</span>
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<h4>
<span class="mim-font">
<strong>Mapping</strong>
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</h4>
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<span class="mim-text-font">
<p>Peacocke and Siminovitch (1987) studied 10 kindreds for linkage with RFLPs. Significant linkage was found between WAS and 2 loci, DXS14 and DXS7, that mapped to the proximal short arm of the X chromosome. Maximal lod scores were 4.29 (at theta = 0.03) and 4.12 (at theta = 0.00), respectively. Arveiler et al. (1987) found a strong suggestion of linkage between IMD2 and DXS1, which is located in Xq11-q12. Kwan et al. (1988) concluded from linkage studies that the WAS gene lies between DXS7 (Xp11.3) and DXS14 (Xp11); the likelihood of this position was at least 128 times higher than that of any other interval studied. In a study of 12 WAS families, Kwan et al. (1989) demonstrated linkage to another DNA marker, DXS255, located at Xp11.22; peak lod score = 4.65 at theta = 0.05. Greer et al. (1989) showed linkage between WAS and DXZ1 (lod score = 7.08 at theta = 0.03) and between WAS and the TIMP (305370) locus (lod score = 5.09 at theta = 0.0). Greer et al. (1990) extended the linkage studies, demonstrating strongest linkage (maximum lod score = 10.19 at theta = 0.0) between WAS and the hypervariable DXS255 locus, a marker already mapped between DXS7 and DXS14. De Saint Basile et al. (1989) found close linkage of WAS to DXS255 (maximum lod = 5.42 at theta = 0.00). Kwan et al. (1991) likewise concluded that DXS255 is the closest marker identified; WAS showed a multipoint maximum lod score of 8.59 at 1.2 cM distal to DXS255. Furthermore, they concluded that the TIMP gene must lie distal to WAS; thus, WAS was thought to lie between DXS255 (Xp11.22) and TIMP (Xp11.3). Greer et al. (1992) demonstrated close linkage between the WAS and OATL1 (311240) loci; maximum lod = 6.08 at theta = 0.00. The finding localized the TIMP, OATL1, and WAS loci distal to DXS146 and the OATL1 and WAS loci proximal to TIMP. </p><p>Arveiler et al. (1990) showed that failure to demonstrate linkage of WAS to markers known from other families to be closely situated was attributable to germ cell mosaicism in the grandfather of affected males. The same phenomenon has been described in X-linked agammaglobulinemia; see 300300. </p><p>De Saint-Basile et al. (1991) studied a family in which 4 members had X-linked thrombocytopenia. Linkage studies showed mapping to the same region of the X chromosome as that found in WAS. Although polymorphonuclear leukocytes showed a normal pattern of X-inactivation, a skewed pattern was demonstrated in lymphocytes. De Saint-Basile et al. (1991) concluded that this was consistent with allelic mutations at the same locus, with the severity of disease varying according to the distinct patterns of hematopoietic cell involvement in obligate carriers. </p><p>Kwan et al. (1995) isolated and characterized a polymorphic CA dinucleotide repeat, DXS6940, that lies within 30 kb of the WAS gene. </p>
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<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
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</h4>
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<span class="mim-text-font">
<p>Derry et al. (1994) found that the WAS gene was not expressed in 2 unrelated patients with Wiskott-Aldrich syndrome, 1 of whom had a single base deletion that produced a frameshift and premature termination of translation (300392.0001). Two additional patients were identified with point mutations that changed the same arginine residue to either a histidine or a leucine (300392.0002-300392.0003). </p><p>Villa et al. (1995) presented proof that mutations in the WAS gene can result in X-linked thrombocytopenia characterized by thrombocytopenia with small-sized platelets as an isolated finding (313900). Why some mutations impair only the megakaryocytic lineage and have no apparent effect on the lymphoid lineage was unclear. In a study of 16 WAS patients and 4 X-linked thrombocytopenia patients, Thompson et al. (1999) identified 14 distinct mutations, including 7 novel gene defects. </p><p>In an affected grandson of a female first cousin of the 3 patients described originally by Wiskott (1937), Binder et al. (2006) found a 2-nucleotide deletion in exon 1 of the WAS gene (300392.0021). </p><p>Dobbs et al. (2007) identified 2 different but contiguous single basepair deletions in maternal cousins with WAS (300392.0022 and 300392.0023, respectively). Their maternal grandmother was found to be a mosaic for the deletions, both of which occurred on the haplotype from the unaffected maternal great-grandfather, consistent with a bichromatid mutation in a male gamete. </p><p><strong><em>Revertant Mosaicism</em></strong></p><p>
Wada et al. (2001) provided evidence that in vivo reversion had occurred in the WAS gene in a patient with Wiskott-Aldrich syndrome, resulting in somatic mosaicism. The mutation was a 6-bp insertion (ACGAGG; 300392.0008) which abrogated expression of the WAS protein. Most of the patient's T lymphocytes expressed nearly normal levels of WAS protein. These lymphocytes were found to lack the deleterious mutation and showed a selective growth advantage in vivo. Analysis of the sequence surrounding the mutation site showed that the 6-bp insertion followed a tandem repeat of the same 6 nucleotides. These findings strongly suggested that DNA polymerase slippage was the cause of the original germline insertion mutation in this family and that the same mechanism was responsible for its deletion in one of the proband's T-cell progenitors, thus leading to reversion mosaicism. </p><p>Wada et al. (2004) described 2 additional patients from the same family of the man with revertant T-cell lymphocytes reported by Wada et al. (2001). Somatic mosaicism was demonstrated in leukocytes from the first patient that were cryopreserved when he was 22 years old, 11 years before his death from kidney failure. The second patient, 16 years old at the time of report, had a moderate clinical phenotype and developed revertant cells after the age of 14 years. T lymphocytes showed selective in vivo advantage. These results supported DNA polymerase slippage as a common underlying mechanism and indicated that T-cell mosaicism may have different clinical effects in WAS. Wada et al. (2004) stated that sibs with revertant mosaicism had previously been reported (Wada et al., 2003; Waisfisz et al., 1999), but 3 patients with revertant disease in a single kindred was unprecedented. </p><p><strong><em>Somatic Mosaicism with Second-Site Mutations</em></strong></p><p>
Boztug et al. (2008) reported 2 Ukrainian brothers, aged 3 and 4 years, respectively, with WAS due to somatic mosaicism for a truncation mutation and multiple different second-site mutations. Flow cytometric analysis of peripheral blood cells showed that each patient had WAS-negative cells resulting from the truncation mutation and a subset of WAS-positive cells that expressed second-site missense WAS mutations. The second-site mutations resulted in the production of altered, but possibly functional, protein. All second-site mutations in both patients occurred in the same nucleotide triplet in which the truncation mutation occurred. Over time, both boys had a decrease in bleeding diathesis and eczema, and normalization of platelet counts. Boztug et al. (2008) suggested that the second-site mutations may confer a proliferative advantage to the affected cells in these patients. </p>
</span>
<div>
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<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
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</h4>
</div>
<span class="mim-text-font">
<p>Schindelhauer et al. (1996) found no genotype/phenotype correlation emerge after a comparison of the identified mutations with the resulting clinical picture for a classical WAS phenotype. A mild course, reminiscent of X-linked thrombocytopenia, or an attenuated phenotype was more often associated with missense than with the other types of mutations. </p><p>Greer et al. (1996) examined the genotypes and phenotypes of 24 patients with WAS and compared them with other known mutations of the WASP gene. They demonstrated clustering of WASP mutations within the 4 most N-terminal exons of the gene and identified arg86 as the most prominent hotspot for WASP mutations. They noted the prominence of missense mutations among patients with milder forms of WAS, while noting that missense mutations also comprise a substantial portion of mutations in patients with severe forms of the disease. Greer et al. (1996) concluded that phenotypes and genotypes of WAS are not well correlated; phenotypic outcome cannot be reliably predicted on the basis of WASP genotype. </p><p>Lemahieu et al. (1999) identified 17 WASP gene mutations, 12 of which were novel. All missense mutations were located in exons 1 to 4. Most of the nonsense, frameshift, and splice site mutations were found in exons 6 to 11. Mutations that alter splice sites led to the synthesis of several types of mRNAs, a fraction of which represented the normally spliced product. The presence of normally spliced transcripts was correlated with a milder phenotype. When one such case was studied by Western blot analysis, reduced amounts of normal-sized WASP were present. In other cases as well, a correlation was found between the amount of normal or mutant WASP present and the phenotypes of the affected individuals. No protein was detected in 2 individuals with severe Wiskott-Aldrich syndrome. Reduced levels of a normal-sized WASP with a missense mutation were seen in 2 individuals with X-linked thrombocytopenia. Lemahieu et al. (1999) concluded that mutation analysis at the DNA level is not sufficient for predicting clinical course, and that studies at the transcript and protein levels are needed for a better assessment. </p><p>That some mutations in WASP result in X-linked thrombocytopenia without the associated features of the Wiskott-Aldrich syndrome (THC1; 313900) is well established. Devriendt et al. (2001) demonstrated, furthermore, that a constitutively activating mutation in WASP can cause X-linked severe congenital neutropenia (SCNX; 300299). See 300392.0012 for the L270P mutation in WASP demonstrated by Devriendt et al. (2001). </p><p>Vallee et al. (2024) evaluated 577 individuals with Wiskott-Aldrich syndrome from 63 centers in 26 countries born between 1932 and 2014. The median age at diagnosis was 1.5 years (range, 0-68). Of these patients, 464 (80.4%) were alive at last follow-up, and the median age at last follow-up was 8.9 years (range, 0.3-71.1). This resulted in a total of 6,118 reported patient-years. Overall survival of the cohort, censored at hematopoietic stem cell transplant or gene therapy, was 82% (95% confidence interval (CI) 78-87) at age 15 years and 70% (95% CI 61-80) at 30 years. Vallee et al. (2024) found that those with a missense variant in exon 1 or 2 or the intronic hotspot variant c.559+5G-A (300392.0016) (called class I variants) had a better outcome than those with any other variant (class II variants). Individuals with class I variants had a 15-year odds of survival of 93% (95% CI 89-98) and a 30-year odds of survival of 91% (95% CI 86-97), compared with 71% (95% CI 62-81) and 48% (95% CI 34-68) in patients with class II variants. The cumulative incidence rates of disease-related complications such as severe bleeding (p = 0.007), life-threatening infection (p less than 0.0001), and autoimmunity (p = 0.004) occurred significantly later in patients with a class I variant. The cumulative incidence of malignancy (p = 0.6) was not different between classes I and II. Vallee et al. (2024) concluded that their study quantified the risk for specific disease-related complications and that the class of variant is a biomarker to predict the outcome in patients with WAS. </p><p><strong><em>X-Inactivation Status</em></strong></p><p>
Wengler et al. (1995) stated that obligate female carriers of the gene for X-linked agammaglobulinemia (300300) show nonrandom X-chromosome inactivation only in B lymphocytes, and obligate female carriers of the gene for X-linked severe combined immunodeficiency (XSCID) show nonrandom X-chromosome inactivation in both T and B lymphocytes, as well as natural killer cells. However, all formed elements of the blood appear to be affected, as a rule, in obligate carriers of WAS, as judged by the criteria of nonrandom X-chromosome inactivation and segregation of G6PD alleles in informative females. Wengler et al. (1995) demonstrated that CD34+ hematopoietic progenitor cells collected from obligate carriers of WAS by apheresis showed nonrandom inactivation. They used PCR analysis of a polymorphic VNTR within the X-linked androgen receptor gene (313700) to demonstrate nonrandom inactivation which clearly must occur early during hematopoietic differentiation. </p><p>Parolini et al. (1998) reported X-linked WAS in an 8-year-old girl. She had a sporadic mutation, glu133 to lys, on the paternally derived X chromosome, but had nonrandom X inactivation of the maternal X chromosome in both blood and buccal mucosa. Her mother and maternal grandmother also had nonrandom X inactivation, which suggested to the authors the possibility of a defect in XIST (314670) or some other gene involved in the X-inactivation process. Puck and Willard (1998) commented on the subject of X inactivation in females with X-linked disease in reference to the paper by Parolini et al. (1998). </p><p>Lutskiy et al. (2002) described a female heterozygote for a splice site mutation (300392.0017) who presented at 14 months of age with features of WAS (thrombocytopenia, small platelets, and immunologic dysfunction) and had random inactivation of the X chromosome. She appeared to have a defect in the mechanisms that, in disease-free WAS carriers, lead to preferential survival/proliferation of cells bearing the active wildtype X chromosome. </p>
</span>
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<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Derry et al. (1995) stated that Wasp may be a candidate for involvement in 'scurfy,' a T cell-mediated fatal lymphoreticular disease of mice that had previously been proposed as a mouse homolog of Wiskott-Aldrich syndrome (Lyon et al., 1990). Northern analysis of sf tissue samples indicated the presence of Wasp mRNA in liver and skin, presumably as a consequence of lymphocyte infiltration, but no abnormalities in the amount or size of mRNA were identified. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Puck and Candotti (2006) reviewed lessons from the Wiskott-Aldrich syndrome. Alfred Wiskott (1898-1978) was a German authority on childhood pneumonias who reported 3 affected brothers in 1937. In 1954, Robert Aldrich (1917-1998) and colleagues published an independent description of a large Dutch kindred in which segregation analysis showed X-linked recessive inheritance (Aldrich et al., 1954). By 2006, more than 160 different WAS mutations spanning all 12 exons of the gene had been found in more than 270 unrelated families and functional domains had been defined. Binder et al. (2006) described an affected member from the family reported by Wiskott (1937) and defined the specific mutation (300392.0021). The patient studied was a first cousin twice removed of the originally reported brothers. In a span of 2 generations, a fatal condition had become treatable. The patient had been successfully cured by transplantation by bone marrow from a matched, unrelated donor. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Blaese et al. (1971); Diaz-Buxo et al. (1974); Filipovich et al.
(1979); Gelzer and Gasser (1961); Hutter and Jones (1981); Kapoor et
al. (1981); Knox-Macaulay et al. (1993); Krivit and Good (1959);
Levin et al. (1970); Lum et al. (1980); Nathan (1980); Ochs et al.
(1980); Parkman et al. (1978); Steinberg (1959); Weiden and Blaese
(1972); Wolff (1967)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
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Abinun, M., Mikuska, M., Filipovic, B.
<strong>Infantile cortical hyperostosis associated with the Wiskott-Aldrich syndrome.</strong>
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[Full Text: https://doi.org/10.1007/BF00441979]
</p>
</li>
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<p class="mim-text-font">
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<strong>Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome.</strong>
Science 341: 1233151, 2013. Note: Electronic Article.
[PubMed: 23845947]
[Full Text: https://doi.org/10.1126/science.1233151]
</p>
</li>
<li>
<p class="mim-text-font">
Aldrich, R. A., Steinberg, A. G., Campbell, D. C.
<strong>Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea.</strong>
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</p>
</li>
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<p class="mim-text-font">
Arveiler, B., de Saint Basile, G., Debre, M., Fischer, A., Griscelli, C., Mandel, J. L.
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Arveiler, B., de Saint-Basile, G., Fischer, A., Griscelli, C., Mandel, J. L.
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</p>
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<p class="mim-text-font">
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[Full Text: https://doi.org/10.1056/NEJMoa062520]
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[Full Text: https://doi.org/10.1016/s0140-6736(68)91411-6]
</p>
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<p class="mim-text-font">
Blaese, R. M., Strober, W., Levy, A. L., Waldmann, T. A.
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[Full Text: https://doi.org/10.1111/j.1399-0004.2008.01019.x]
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<p class="mim-text-font">
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[Full Text: https://doi.org/10.1016/s0022-3476(05)83041-0]
</p>
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<p class="mim-text-font">
Capsoni, F., Acerbi, L., Bonora, G., Perletti, L., Ongari, A. M., Vanoli, M., Zanussi, C.
<strong>Phagocyte function and immunological findings in a Wiskott-Aldrich syndrome long-term survivor.</strong>
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[PubMed: 3754288]
</p>
</li>
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<p class="mim-text-font">
Cooper, M. D., Chae, H. P., Lowman, J. T., Krivit, W., Good, R. A.
<strong>Wiskott-Aldrich syndrome: an immunologic deficiency disease involving the afferent limb of immunity.</strong>
Am. J. Med. 44: 499-513, 1968.
[PubMed: 4171085]
[Full Text: https://doi.org/10.1016/0002-9343(68)90051-x]
</p>
</li>
<li>
<p class="mim-text-font">
Corash, L., Shafer, B., Blaese, R. M.
<strong>Platelet-associated immunoglobulin, platelet size, and the effect of splenectomy in the Wiskott-Aldrich syndrome.</strong>
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[PubMed: 3995178]
</p>
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<li>
<p class="mim-text-font">
de Saint Basile, G., Arveiler, B., Fraser, N. F., Boyd, Y., Graig, I. W., Griscelli, G., Fischer, A.
<strong>Close linkage of hypervariable marker DXS255 to disease locus of Wiskott-Aldrich syndrome.</strong>
Lancet 334: 1319-1321, 1989. Note: Originally Volume II.
[PubMed: 2574264]
[Full Text: https://doi.org/10.1016/s0140-6736(89)91920-x]
</p>
</li>
<li>
<p class="mim-text-font">
de Saint-Basile, G., Schlegel, N., Caniglia, M., Le Deist, F., Kaplan, C., Lecompte, T., Piller, F., Fischer, A., Griscelli, C.
<strong>X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriers.</strong>
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[PubMed: 1912030]
[Full Text: https://doi.org/10.1007/BF01707282]
</p>
</li>
<li>
<p class="mim-text-font">
Derry, J. M. J., Ochs, H. D., Francke, U.
<strong>Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.</strong>
Cell 78: 635-644, 1994. Note: Erratum: Cell 79: following 922, 1994.
[PubMed: 8069912]
[Full Text: https://doi.org/10.1016/0092-8674(94)90528-2]
</p>
</li>
<li>
<p class="mim-text-font">
Derry, J. M. J., Wiedemann, P., Blair, P., Wang, Y., Kerns, J. A., Lemahieu, V., Godfrey, V. L., Wilkinson, J. E., Francke, U.
<strong>The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome.</strong>
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[PubMed: 8666397]
[Full Text: https://doi.org/10.1006/geno.1995.9979]
</p>
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<p class="mim-text-font">
Devriendt, K., Kim, A. S., Mathijs, G., Frints, S. G. M., Schwartz, M., Van den Oord, J. J., Verhoef, G. E. G., Boogaerts, M. A., Fryns, J.-P., You, D., Rosen, M. K., Vandenberghe, P.
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[PubMed: 11242115]
[Full Text: https://doi.org/10.1038/85886]
</p>
</li>
<li>
<p class="mim-text-font">
Diaz-Buxo, J. A., Hermans, P. E., Ritts, R. E., Jr.
<strong>Wiskott-Aldrich syndrome in an adult.</strong>
Mayo Clin. Proc. 49: 455-459, 1974.
[PubMed: 4834926]
</p>
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<li>
<p class="mim-text-font">
Dobbs, A. K., Yang, T., Farmer, D. M., Howard, V., Conley, M. E.
<strong>A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS.</strong>
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[PubMed: 17250667]
[Full Text: https://doi.org/10.1111/j.1399-0004.2007.00748.x]
</p>
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Du, W., Kumaki, S., Uchiyama, T., Yachie, A., Looi, C. Y., Kawai, S., Minegishi, M., Ramesh, N., Geha, R. S., Sasahara, Y., Tsuchiya, S.
<strong>A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient.</strong>
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[PubMed: 16511828]
[Full Text: https://doi.org/10.1002/humu.20308]
</p>
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<p class="mim-text-font">
Fearon, E. R., Kohn, D. B., Winkelstein, J. A., Vogelstein, B., Blaese, R. M.
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[PubMed: 3263154]
</p>
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<li>
<p class="mim-text-font">
Filipovich, A. H., Krivit, W., Kersey, J. H., Burke, B. A.
<strong>Fatal arteritis as a complication of Wiskott-Aldrich syndrome.</strong>
J. Pediat. 95: 742-744, 1979.
[PubMed: 490243]
[Full Text: https://doi.org/10.1016/s0022-3476(79)80726-x]
</p>
</li>
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<p class="mim-text-font">
Fischer, A., Friedrich, W., Levinsky, R., Vossen, J., Griscelli, C., Kubanek, B., Morgan, G., Wagemaker, G., Landais, P.
<strong>Bone-marrow transplantation for immunodeficiencies and osteopetrosis: European survey, 1968-1985.</strong>
Lancet 328: 1080-1084, 1986. Note: Originally Volume II.
[PubMed: 2877234]
[Full Text: https://doi.org/10.1016/s0140-6736(86)90477-0]
</p>
</li>
<li>
<p class="mim-text-font">
Gatti, R. A., Meuwissen, J. J., Allen, H. D., Hong, R., Good, R. A.
<strong>Immunological reconstitution of sex-linked lymphopenic immunological deficiency.</strong>
Lancet 292: 1366-1369, 1968. Note: Originally Volume II.
[PubMed: 4177932]
[Full Text: https://doi.org/10.1016/s0140-6736(68)92673-1]
</p>
</li>
<li>
<p class="mim-text-font">
Gealy, W. J., Dwyer, J. M., Harley, J. B.
<strong>Allelic exclusion of glucose-6-phosphate dehydrogenase in platelets and T lymphocytes from a Wiskott-Aldrich syndrome carrier.</strong>
Lancet 315: 63-65, 1980. Note: Originally Volume I.
[PubMed: 6101415]
[Full Text: https://doi.org/10.1016/s0140-6736(80)90492-4]
</p>
</li>
<li>
<p class="mim-text-font">
Gelzer, J., Gasser, C.
<strong>Wiskott-Aldrich-Syndrom.</strong>
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[PubMed: 13704318]
</p>
</li>
<li>
<p class="mim-text-font">
Giliani, S., Fiorini, M., Mella, P., Candotti, F., Schumacher, R. F., Wengler, G. S., Lalatta, F., Fasth, A., Badolato, R., Ugazio, A. G., Albertini, A., Notarangelo, L. D.
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</p>
</li>
<li>
<p class="mim-text-font">
Greer, W. L., Mahtani, M. M., Kwong, P. C., Rubin, L. A., Peacocke, M., Willard, H. F., Siminovitch, K. A.
<strong>Linkage studies of the Wiskott-Aldrich syndrome: polymorphisms at TIMP and the X chromosome centromere are informative markers for genetic prediction.</strong>
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[PubMed: 2571560]
[Full Text: https://doi.org/10.1007/BF00285161]
</p>
</li>
<li>
<p class="mim-text-font">
Greer, W. L., Peacocke, M., Siminovitch, K. A.
<strong>The Wiskott-Aldrich syndrome: refinement of the localization on Xp and identification of another closely linked marker locus, OATL1.</strong>
Hum. Genet. 88: 453-456, 1992.
[PubMed: 1346773]
[Full Text: https://doi.org/10.1007/BF00215681]
</p>
</li>
<li>
<p class="mim-text-font">
Greer, W. L., Shehabeldin, A., Schulman, J., Junker, A., Siminovitch, K. A.
<strong>Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome.</strong>
Hum. Genet. 98: 685-690, 1996.
[PubMed: 8931701]
[Full Text: https://doi.org/10.1007/s004390050285]
</p>
</li>
<li>
<p class="mim-text-font">
Greer, W. L., Somani, A.-K., Kwong, P. C., Peacocke, M., Rubin, L. A., Siminovitch, K. A.
<strong>Linkage relationships of the Wiskott-Aldrich syndrome to 10 loci in the pericentromeric region of the human X chromosome.</strong>
Genomics 6: 568-571, 1990.
[PubMed: 2328995]
[Full Text: https://doi.org/10.1016/0888-7543(90)90489-h]
</p>
</li>
<li>
<p class="mim-text-font">
Gutenberger, J., Trygstad, C. W., Stiehm, E. R., Opitz, J. M., Thatcher, L. G., Bloodworth, J. M. B.
<strong>Familial thrombocytopenia, elevated serum IgA and renal disease.</strong>
Am. J. Med. 49: 729-741, 1970.
[PubMed: 5006613]
[Full Text: https://doi.org/10.1016/s0002-9343(70)80055-9]
</p>
</li>
<li>
<p class="mim-text-font">
Holmberg, L., Gustavii, B., Jonsson, A.
<strong>A prenatal study of fetal platelet count and size with application to fetus at risk for Wiskott-Aldrich syndrome.</strong>
J. Pediat. 102: 773-776, 1983.
[PubMed: 6842338]
[Full Text: https://doi.org/10.1016/s0022-3476(83)80256-x]
</p>
</li>
<li>
<p class="mim-text-font">
Hutter, J. J., Jr., Jones, J. F.
<strong>Results of a thymic epithelial transplant in a child with Wiskott-Aldrich syndrome and central nervous system lymphoma.</strong>
Clin. Immun. Immunopath. 18: 121-125, 1981.
[PubMed: 7006877]
[Full Text: https://doi.org/10.1016/0090-1229(81)90015-5]
</p>
</li>
<li>
<p class="mim-text-font">
Kapoor, N., Kirkpatrick, D., Blaese, R. M., Oleske, J., Hilgartner, M. H., Chaganti, R. S. K., Good, R. A., O'Reilly, R. J.
<strong>Reconstitution of normal megakaryocytopoiesis and immunologic functions in Wiskott-Aldrich syndrome by marrow transplantation following myelo-ablation and immunosuppression with busulphan and cyclophosphamide.</strong>
Blood 57: 692-696, 1981.
[PubMed: 7008865]
</p>
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<li>
<p class="mim-text-font">
Knox-Macaulay, H. H. M., Bashawri, L., Davies, K. E.
<strong>X linked recessive thrombocytopenia.</strong>
J. Med. Genet. 30: 968-969, 1993.
[PubMed: 8301658]
[Full Text: https://doi.org/10.1136/jmg.30.11.968]
</p>
</li>
<li>
<p class="mim-text-font">
Kolluri, R., Tolias, K. F., Carpenter, C. L., Rosen, F. S., Kirchhausen, T.
<strong>Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42.</strong>
Proc. Nat. Acad. Sci. 93: 5615-5618, 1996.
[PubMed: 8643625]
[Full Text: https://doi.org/10.1073/pnas.93.11.5615]
</p>
</li>
<li>
<p class="mim-text-font">
Krivit, W., Good, R. A.
<strong>Aldrich&#x27;s syndrome (thrombocytopenia, eczema and infection in infants): studies of the defense mechanisms.</strong>
AMA J. Dis. Child. 97: 137-153, 1959.
[PubMed: 13616861]
[Full Text: https://doi.org/10.1001/archpedi.1959.02070010139001]
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</li>
<li>
<p class="mim-text-font">
Kwan, S.-P., Hagemann, T. L., Radtke, B. E., Blaese, R. M., Rosen, F. S.
<strong>Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.</strong>
Proc. Nat. Acad. Sci. 92: 4706-4710, 1995.
[PubMed: 7753869]
[Full Text: https://doi.org/10.1073/pnas.92.10.4706]
</p>
</li>
<li>
<p class="mim-text-font">
Kwan, S.-P., Lehner, T., Hagemann, T., Lu, B., Blaese, M., Ochs, H., Wedgwood, R., Ott, J., Craig, I. W., Rosen, F. S.
<strong>Localization of the gene for the Wiskott-Aldrich syndrome between two flanking markers, TIMP and DXS255, on Xp11.22-Xp11.3.</strong>
Genomics 10: 29-33, 1991.
[PubMed: 1675197]
[Full Text: https://doi.org/10.1016/0888-7543(91)90480-3]
</p>
</li>
<li>
<p class="mim-text-font">
Kwan, S.-P., Lehner, T., Lu, B., Raghu, G., Blaese, M., Sandkuyl, L. A., Ott, J., Fraser, N., Boyd, Y., Craig, I. W., Fischer, S., Rosen, F.
<strong>Linkage of DXS255 to the Wiskott Aldrich syndrome gene. (Abstract)</strong>
Cytogenet. Cell Genet. 51: 1027 only, 1989.
</p>
</li>
<li>
<p class="mim-text-font">
Kwan, S.-P., Sandkuyl, L. A., Blaese, M., Kunkel, L. M., Bruns, G., Parmley, R., Skarshaug, S., Page, D. C., Ott, J., Rosen, F. S.
<strong>Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers.</strong>
Genomics 3: 39-43, 1988.
[PubMed: 2906042]
[Full Text: https://doi.org/10.1016/0888-7543(88)90156-5]
</p>
</li>
<li>
<p class="mim-text-font">
Labrosse, R., Chu, J. I., Armant, M. A., Everett, J. K., Pellin, D., Kareddy, N., Frelinger, A. L., Henderson, L. A., O'Connell, A. E., Biswas, A., Coenen-van der Spek, J., Miggelbrink, A., and 33 others.
<strong>Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome.</strong>
Blood 142: 1281-1296, 2023.
[PubMed: 37478401]
[Full Text: https://doi.org/10.1182/blood.2022019117]
</p>
</li>
<li>
<p class="mim-text-font">
Lemahieu, V., Gastier, J. M., Francke, U.
<strong>Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.</strong>
Hum. Mutat. 14: 54-66, 1999.
[PubMed: 10447259]
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1999)14:1&lt;54::AID-HUMU7&gt;3.0.CO;2-E]
</p>
</li>
<li>
<p class="mim-text-font">
Levin, A. S., Spitler, L. E., Stiles, D. P., Fudenberg, H. H.
<strong>Wiskott-Aldrich syndrome, a genetically determined cellular immunologic deficiency: clinical and laboratory responses to therapy with transfer factor.</strong>
Proc. Nat. Acad. Sci. 67: 821-828, 1970.
[PubMed: 5289024]
[Full Text: https://doi.org/10.1073/pnas.67.2.821]
</p>
</li>
<li>
<p class="mim-text-font">
Lum, L. G., Tubergen, D. G., Corash, L., Blaese, R. M.
<strong>Splenectomy in the management of the thrombocytopenia of the Wiskott-Aldrich syndrome.</strong>
New Eng. J. Med. 302: 892-896, 1980.
[PubMed: 6767187]
[Full Text: https://doi.org/10.1056/NEJM198004173021604]
</p>
</li>
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<p class="mim-text-font">
Lutskiy, M. I., Sasahara, Y., Kenney, D. M., Rosen, F. S., Remold-O'Donnell, E.
<strong>Wiskott-Aldrich syndrome in a female.</strong>
Blood 100: 2763-2768, 2002.
[PubMed: 12351383]
[Full Text: https://doi.org/10.1182/blood-2002-02-0388]
</p>
</li>
<li>
<p class="mim-text-font">
Lyon, M. F., Peters, J., Glenister, P. H., Ball, S., Wright, E.
<strong>The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome.</strong>
Proc. Nat. Acad. Sci. 87: 2433-2437, 1990.
[PubMed: 2320565]
[Full Text: https://doi.org/10.1073/pnas.87.7.2433]
</p>
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<p class="mim-text-font">
McEnery, G., Nash, F. W.
<strong>Wiskott-Aldrich syndrome associated with idiopathic infantile cortical hyperostosis (Caffey&#x27;s disease).</strong>
Arch. Dis. Child. 48: 818-821, 1973.
[PubMed: 4584223]
[Full Text: https://doi.org/10.1136/adc.48.10.818]
</p>
</li>
<li>
<p class="mim-text-font">
Mentzer, S. J., Remold-O'Donnell, E., Crimmins, M. A. V., Bierer, B. E., Rosen, F. S., Burakoff, S. J.
<strong>Sialophorin, a surface sialoglycoprotein defective in the Wiskott-Aldrich syndrome, is involved in human T lymphocyte proliferation.</strong>
J. Exp. Med. 165: 1383-1392, 1987.
[PubMed: 3572301]
[Full Text: https://doi.org/10.1084/jem.165.5.1383]
</p>
</li>
<li>
<p class="mim-text-font">
Meropol, N. J., Hicks, D., Brooks, J. J., Siminovitch, K. A., Fishman, N. O., Kant, J. A., Bennett, J. S.
<strong>Coincident Kaposi sarcoma and T-cell lymphoma in a patient with the Wiskott-Aldrich syndrome.</strong>
Am. J. Hemat. 40: 126-134, 1992.
[PubMed: 1316718]
[Full Text: https://doi.org/10.1002/ajh.2830400210]
</p>
</li>
<li>
<p class="mim-text-font">
Nathan, D. G.
<strong>Splenectomy in the Wiskott-Aldrich syndrome. (Editorial)</strong>
New Eng. J. Med. 302: 916-917, 1980.
[PubMed: 6767188]
[Full Text: https://doi.org/10.1056/NEJM198004173021610]
</p>
</li>
<li>
<p class="mim-text-font">
Notarangelo, L. D., Candotti, F., Parolini, O., Mantuano, E., Giliani, S., Lanfranchi, A., Albertini, A.
<strong>Application of molecular analysis to genetic counseling in the Wiskott-Aldrich syndrome (WAS).</strong>
DNA Cell Biol. 12: 645-649, 1993.
[PubMed: 8397823]
[Full Text: https://doi.org/10.1089/dna.1993.12.645]
</p>
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<li>
<p class="mim-text-font">
Notarangelo, L. D., Parolini, O., Faustini, R., Porteri, V., Albertini, A., Ugazio, A. G.
<strong>Presentation of Wiskott-Aldrich syndrome as isolated thrombocytopenia. (Letter)</strong>
Blood 77: 1125-1126, 1991.
[PubMed: 1995098]
</p>
</li>
<li>
<p class="mim-text-font">
Notarangelo, L. D., Parolini, O., Porta, F., Locatelli, F., Lanfranchi, A., Marconi, M., Nespoli, L., Albertini, A., Craig, I. W., Ugazio, A. G.
<strong>Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS.</strong>
Hum. Genet. 88: 237-241, 1991.
[PubMed: 1684569]
[Full Text: https://doi.org/10.1007/BF00206081]
</p>
</li>
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Ochs, H. D., Slichter, S. J., Harker, L. A., Von Behrens, W. E., Clark, R. A., Wedgwood, R. J.
<strong>The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets.</strong>
Blood 55: 243-252, 1980.
[PubMed: 6444359]
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Parkman, R., Kenney, D. M., Remold-O'Donnell, E., Perrine, S., Rosen, F. S.
<strong>Surface protein abnormalities in lymphocytes and platelets from patients with Wiskott-Aldrich syndrome.</strong>
Lancet 318: 1387-1389, 1981. Note: Originally Volume II.
[PubMed: 6118760]
[Full Text: https://doi.org/10.1016/s0140-6736(81)92802-6]
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Parkman, R., Rappeport, J., Geha, R., Belli, J., Cassady, R., Levey, R., Nathan, D. G., Rosen, F. S.
<strong>Complete correction of the Wiskott-Aldrich syndrome by allogeneic bone marrow transplantation.</strong>
New Eng. J. Med. 298: 921-927, 1978.
[PubMed: 347289]
[Full Text: https://doi.org/10.1056/NEJM197804272981701]
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Parolini, O., Ressmann, G., Haas, O. A., Pawlowsky, J., Gadner, H., Knapp, W., Holter, W.
<strong>X-linked Wiskott-Aldrich syndrome in a girl.</strong>
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Peacocke, M., Siminovitch, K. A.
<strong>Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome.</strong>
Proc. Nat. Acad. Sci. 84: 3430-3433, 1987.
[PubMed: 3472214]
[Full Text: https://doi.org/10.1073/pnas.84.10.3430]
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Perry, G. S., III, Spector, B. D., Schuman, L. M., Mandel, J. S., Anderson, V. E., McHugh, R. B., Hanson, M. R., Fahlstrom, S. M., Krivit, W., Kersey, J. H.
<strong>The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979).</strong>
J. Pediat. 97: 72-78, 1980.
[PubMed: 7381651]
[Full Text: https://doi.org/10.1016/s0022-3476(80)80133-8]
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<strong>Wiskott-Aldrich syndrome: cellular impairments and their implication for carrier detection.</strong>
Blood 56: 1048-1054, 1980.
[PubMed: 7437512]
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Puck, J. M., Candotti, F.
<strong>Lessons from the Wiskott-Aldrich syndrome.</strong>
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[PubMed: 17065636]
[Full Text: https://doi.org/10.1056/NEJMp068209]
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Puck, J. M., Siminovitch, K. A., Poncz, M., Greenberg, C. R., Rottem, M., Conley, M. E.
<strong>Atypical presentation of Wiskott-Aldrich syndrome: diagnosis in two unrelated males based on studies of maternal T cell X chromosome inactivation.</strong>
Blood 75: 2369-2374, 1990.
[PubMed: 1972030]
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<strong>X inactivation in females with X-linked disease.</strong>
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[PubMed: 9445416]
[Full Text: https://doi.org/10.1056/NEJM199801293380611]
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Remold-O'Donnell, E., Kenney, D. M., Parkman, R., Cairns, L., Savage, B., Rosen, F. S.
<strong>Characterization of a human lymphocyte surface sialoglycoprotein that is defective in Wiskott-Aldrich syndrome.</strong>
J. Exp. Med. 159: 1705-1723, 1984.
[PubMed: 6547160]
[Full Text: https://doi.org/10.1084/jem.159.6.1705]
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Sasahara, Y., Fujie, H., Kumaki, S., Ohashi, Y., Minegishi, M., Tsuchiya, S.
<strong>Epstein-Barr virus-associated Hodgkin&#x27;s disease in a patient with Wiskott-Aldrich syndrome.</strong>
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[PubMed: 11808913]
[Full Text: https://doi.org/10.1080/080352501317130461]
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Sasahara, Y., Rachid, R., Byrne, M. J., de la Fuente, M. A., Abraham, R. T., Ramesh, N., Geha, R. S.
<strong>Mechanism of recruitment of WASP to the immunological synapse and of its activation following TCR ligation.</strong>
Molec. Cell 10: 1269-1281, 2002.
[PubMed: 12504004]
[Full Text: https://doi.org/10.1016/s1097-2765(02)00728-1]
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Schindelhauer, D., Weiss, M., Hellebrand, H., Golla, A., Hergersberg, M., Seger, R., Belohradsky, B. H., Meindl, A.
<strong>Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.</strong>
Hum. Genet. 98: 68-76, 1996.
[PubMed: 8682510]
[Full Text: https://doi.org/10.1007/s004390050162]
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Schwartz, M., Mibashan, R. S., Nicolaides, K. H., Millar, D. S., Jenkins, E., Rodeck, C. H., Orstavik, K. H., Stormorken, H.
<strong>First-trimester diagnosis of Wiskott-Aldrich syndrome by DNA markers. (Letter)</strong>
Lancet 334: 1405 only, 1989. Note: Originally Volume II.
[PubMed: 2574357]
[Full Text: https://doi.org/10.1016/s0140-6736(89)92026-6]
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Shapiro, R. S., Perry, G. S., III, Krivit, W., Gerrard, J. M., White, J. G., Kersey, J. H.
<strong>Wiskott-Aldrich syndrome: detection of carrier state by metabolic stress of platelets.</strong>
Lancet 311: 121-123, 1978. Note: Originally Volume I.
[PubMed: 87553]
[Full Text: https://doi.org/10.1016/s0140-6736(78)90419-1]
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Shcherbina, A., Bretscher, A., Rosen, F. S., Kenney, D. M., Remold-O'Donnell, E.
<strong>The cytoskeletal linker protein moesin: decreased levels in Wiskott-Aldrich syndrome platelets and identification of a cleavage pathway in normal platelets.</strong>
Brit. J. Haemat. 106: 216-223, 1999. Note: Erratum: Brit. J. Haemat. 107: 218 only, 1999.
[PubMed: 10444190]
[Full Text: https://doi.org/10.1046/j.1365-2141.1999.01508.x]
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Simon, H.-U., Mills, G. B., Hashimoto, S., Siminovitch, K. A.
<strong>Evidence for defective transmembrane signaling in B cells from patients with Wiskott-Aldrich syndrome.</strong>
J. Clin. Invest. 90: 1396-1405, 1992.
[PubMed: 1401074]
[Full Text: https://doi.org/10.1172/JCI116006]
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Spitler, L. E., Wray, B. B., Mogerman, S., Miller, J. J., III, O'Reilly, R. J., Lagios, M.
<strong>Nephropathy in the Wiskott-Aldrich syndrome.</strong>
Pediatrics 66: 391-398, 1980.
[PubMed: 7422429]
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Standen, G. R., Lillicrap, D. P., Matthews, N., Bloom, A. L.
<strong>Inherited thrombocytopenia, elevated serum IgA and renal disease: identification as a variant of the Wiskott-Aldrich syndrome.</strong>
Quart. J. Med. 59: 401-408, 1986.
[PubMed: 3749445]
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<strong>Methodology in human genetics.</strong>
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<strong>A multiinstitutional survey of Wiskott-Aldrich syndrome.</strong>
J. Pediat. 125: 876-885, 1994.
[PubMed: 7996359]
[Full Text: https://doi.org/10.1016/s0022-3476(05)82002-5]
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Symons, M., Derry, J. M. J., Karlak, B., Jiang, S., Lemahieu, V., McCormick, F., Francke, U., Abo, A.
<strong>Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization.</strong>
Cell 84: 723-734, 1996.
[PubMed: 8625410]
[Full Text: https://doi.org/10.1016/s0092-8674(00)81050-8]
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<strong>The development of malignancy in the course of the Aldrich syndrome.</strong>
J. Pediat. 68: 761-767, 1966.
[PubMed: 5948738]
[Full Text: https://doi.org/10.1016/s0022-3476(66)80450-x]
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Thompson, L. J., Lalloz, M. R. A., Layton, D. M.
<strong>Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.</strong>
Blood Cells Molec. Dis. 25: 218-226, 1999.
[PubMed: 10575547]
[Full Text: https://doi.org/10.1006/bcmd.1999.0247]
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Vallee, T. C., Glasmacher, J. S., Buchner, H., Arkwright, P. D., Behrends, U., Bondarenko, A., Browning, M. J., Buchbinder, D., Cattoni, A., Chernyshova, L., Ciznar, P., Cole, T., and 43 others.
<strong>Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.</strong>
Blood 143: 2504-2516, 2024.
[PubMed: 38579284]
[Full Text: https://doi.org/10.1182/blood.2023021411]
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Van den Bosch, J., Drukker, J.
<strong>Het Syndroom van Aldrich: een klinisch en genetisch Onderzoek van enige nederlandse Families.</strong>
Maandschr. Kindergeneesk. 32: 359-373, 1964.
[PubMed: 14228682]
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Villa, A., Notarangelo, L., Macchi, P., Mantuano, E., Cavagni, G., Brugnoni, D., Strina, D., Patrosso, M. C., Ramenghi, U., Sacco, M. G., Ugazio, A., Vezzoni, P.
<strong>X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.</strong>
Nature Genet. 9: 414-417, 1995.
[PubMed: 7795648]
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Wada, T., Konno, A., Schurman, S. H., Garabedian, E. K., Anderson, S. M., Kirby, M., Nelson, D. L., Candotti, F.
<strong>Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings.</strong>
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[PubMed: 12727931]
[Full Text: https://doi.org/10.1172/JCI15485]
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Wada, T., Schurman, S. H., Jagadeesh, G. J., Garabedian, E. K., Nelson, D. L., Candotti, F.
<strong>Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family.</strong>
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[PubMed: 15142877]
[Full Text: https://doi.org/10.1182/blood-2004-03-0846]
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Wada, T., Schurman, S. H., Otsu, M., Garabedian, E. K., Ochs, H. D., Nelson, D. L., Candotti, F.
<strong>Somatic mosaicism in Wiskott-Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.</strong>
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[PubMed: 11447283]
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Waisfisz, Q., Morgan, N. V., Savino, M., de Winter, J. P., van Berkel, C. G. M., Hoatlin, M. E., Ianzano, L., Gibson, R. A., Arwert, F., Savoia, A., Mathew, C. G., Pronk, J. C., Joenje, H.
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Webb, M. C., Andrews, P. A., Koffman, C. G., Cameron, J. S.
<strong>Renal transplantation in Wiskott-Aldrich syndrome.</strong>
Transplantation 56: 1585, 1993. Note: Corrected and republished from Transplantation 56: 747-748, 1993.
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Weiden, P. L., Blaese, R.
<strong>Hereditary thrombocytopenia: relation to Wiskott-Aldrich syndrome with special reference to splenectomy.</strong>
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[PubMed: 4550450]
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Wengler, G., Gorlin, J. B., Williamson, J. M., Rosen, F. S., Bing, D. H.
<strong>Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome.</strong>
Blood 85: 2471-2477, 1995.
[PubMed: 7537115]
</p>
</li>
<li>
<p class="mim-text-font">
Wiskott, A.
<strong>Familiarer, angeborener Morbus Werlhofii?</strong>
Mschr. Kinderheilk. 68: 212-216, 1937.
</p>
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<li>
<p class="mim-text-font">
Wolff, J. A.
<strong>Wiskott-Aldrich syndrome: clinical, immunologic, and pathologic observations.</strong>
J. Pediat. 70: 221-232, 1967.
[PubMed: 4163503]
[Full Text: https://doi.org/10.1016/s0022-3476(67)80417-7]
</p>
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Yamada, M., Ariga, T., Kawamura, N., Yamaguchi, K., Ohtsu, M., Nelson, D. L., Kondoh, T., Kobayashi, I., Okano, M., Kobayashi, K., Sakiyama, Y.
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Yamada, M., Ohtsu, M., Kobayashi, I., Kawamura, N., Kobayashi, K., Ariga, T., Sakiyama, Y., Nelson, D. L., Tsuruta, S., Anakura, M., Ishikawa, N.
<strong>Flow cytometric analysis of Wiskott-Aldrich syndrome (WAS) protein in lymphocytes from WAS patients and their familial carriers.</strong>
Blood 93: 756-759, 1999.
[PubMed: 10215346]
</p>
</li>
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Ada Hamosh - updated : 01/07/2025<br>Hilary J. Vernon - updated : 01/19/2024<br>Ada Hamosh - updated : 01/06/2014<br>Ada Hamosh - updated : 11/11/2010<br>Cassandra L. Kniffin - updated : 4/27/2009<br>Marla J. F. O&#x27;Neill - updated : 11/21/2007<br>Victor A. McKusick - updated : 11/30/2006<br>Victor A. McKusick - updated : 6/13/2006<br>Victor A. McKusick - updated : 12/27/2004<br>Victor A. McKusick - updated : 1/10/2003<br>Cassandra L. Kniffin - reorganized : 5/13/2002<br>Paul J. Converse - updated : 2/21/2002<br>Victor A. McKusick - updated : 8/10/2001<br>Sonja A. Rasmussen - updated : 6/8/2001<br>Victor A. McKusick - updated : 5/18/2001<br>Victor A. McKusick - updated : 2/28/2001<br>Paul J. Converse - updated : 9/21/2000<br>Ada Hamosh - updated : 5/16/2000<br>Victor A. McKusick - updated : 1/19/2000<br>Victor A. McKusick - updated : 8/16/1999<br>Victor A. McKusick - updated : 6/18/1999<br>Victor A. McKusick - updated : 11/4/1998<br>Ada Hamosh - updated : 4/23/1998<br>Jennifer P. Macke - updated : 6/9/1997<br>Cynthia K. Ewing - updated : 10/14/1996<br>Alan F. Scott - updated : 4/23/1996<br>Moyra Smith - updated : 4/22/1996
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Creation Date:
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<span class="mim-text-font">
Victor A. McKusick : 6/4/1986
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