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- #300755 - AGAMMAGLOBULINEMIA, X-LINKED; XLA
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<span class="h4">#300755</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/300755"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS601495,PS300755"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#diagnosis">Diagnosis</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="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=AGAMMAGLOBULINEMIA, X-LINKED" 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>
<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19134&Typ=Pat" title="Non-syndromic agammaglobulinemia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Non-syndromic agammaglobul…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=142&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">X-linked agammaglobulinemia&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1453/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
<div><a href="https://www.diseaseinfosearch.org/x/7543" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://medlineplus.gov/genetics/condition/x-linked-agammaglobulinemia" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300755[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>Orphanet</div>
<div id="mimOrphanetFold" class="collapse">
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=229717" title="Non-syndromic agammaglobulinemia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Non-syndromic agammaglobul…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=47" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">X-linked agammaglobulinemia</a></div>
</div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<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>
</div>
</a>
</span>
</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:14179" 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/300755" 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>
</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;
</span>
</span>
</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> 65880007<br />
<strong>ORPHA:</strong> 229717, 47<br />
<strong>DO:</strong> 14179<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>
300755
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
AGAMMAGLOBULINEMIA, X-LINKED; XLA
</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">
BRUTON-TYPE AGAMMAGLOBULINEMIA<br />
AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1; AGMX1<br />
IMMUNODEFICIENCY 1; IMD1
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="includedTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
</p>
</div>
<div>
<span class="h3 mim-font">
HYPOGAMMAGLOBULINEMIA, X-LINKED, INCLUDED
</span>
</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/500?start=-3&limit=10&highlight=500">
Xq22.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Agammaglobulinemia, X-linked 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300755"> 300755 </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">
BTK
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300300"> 300300 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/300755" 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/PS601495,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')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&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/300755" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/300755" 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> 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 /> -
Hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103276001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103276001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15188001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15188001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011053</a>, <a href="https://bioportal.bioontology.org/search?q=C0018772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018772</a>, <a href="https://bioportal.bioontology.org/search?q=C1384666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1384666</a>, <a href="https://bioportal.bioontology.org/search?q=C3887873&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887873</a>, <a href="https://bioportal.bioontology.org/search?q=C2029884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2029884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Conjunctivitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9826008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9826008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H10.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H10.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/372.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">372.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009763&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009763</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000509</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000509</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> Nasopharynx </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 /> -
Rudimentary adenoids <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845982&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845982</a>]</span><br /> -
Rudimentary tonsils <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845983&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845983</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 /> -
Hypoxemia and cor pulmonale <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845984&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845984</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> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Enteroviral hepatitis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843995&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843995</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001412" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001412</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001412" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001412</a>]</span><br />
</span>
</div>
</div>
<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 />
</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> Internal Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Epididymitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/31070006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">31070006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N45.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N45.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000031" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000031</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000031" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000031</a>]</span><br /> -
Prostatitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9713002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9713002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N41.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/601" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">601</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/601.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">601.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0033581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033581</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000024" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000024</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000024" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000024</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Urinary tract infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197927001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197927001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68566005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68566005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N39.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N39.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/599.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">599.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042029&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042029</a>, <a href="https://bioportal.bioontology.org/search?q=C0262655&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0262655</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000010</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000010</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Septic arthritis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48245008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48245008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396234004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396234004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/372939007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">372939007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M00.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M00.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/711.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">711.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/711.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">711.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/711.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">711.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1692886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1692886</a>, <a href="https://bioportal.bioontology.org/search?q=C0003869&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003869</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003095" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003095</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003095" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003095</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">
- Pyoderma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70759006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70759006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L08.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L08.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/686.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">686.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/686.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">686.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034212&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034212</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000999" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000999</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000999" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000999</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Enteroviral dermatomyositis syndrome <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806660&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806660</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003729" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003729</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003729" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003729</a>]</span><br />
</span>
</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 /> -
Encephalitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45170000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45170000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014038</a>]</span><br /> -
Delayed speech acquisition <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229721007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229721007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span><br />
</span>
</div>
</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">
- Frequent bacterial infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/428875002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">428875002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844383&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844383</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002718</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002718</a>]</span><br /> -
Severe enteroviral infections <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843999&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843999</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53648006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53648006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/B34.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">B34.1</a>]</span><br /> -
Small lymph nodes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002732" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002732</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002732" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002732</a>]</span><br /> -
Absent B-lymphocytes in all organs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845979&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845979</a>]</span><br /> -
Absent plasma cells in all organs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845980&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845980</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEOPLASIA </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Increased incidence of rectosigmoid cancer <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845978&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845978</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">
- Absent or severely reduced levels of serum immunoglobulins <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845981</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Susceptibility to infections start in the first year of life<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 Bruton agammaglobulinemia tyrosine kinase gene (BTK, <a href="/entry/300300#0001">300300.0001</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/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/2/872?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/2/933?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/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/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/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/7/33?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/7/461?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/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/8/232?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/8/253?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, 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/11/981?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/11/982?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/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/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/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/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/22/243?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/22/247?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/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/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/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="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Agammaglobulinemia
- <a href="/phenotypicSeries/PS601495">PS601495</a>
- 12 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/5/218?start=-3&limit=10&highlight=218"> 5q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615214"> ?Agammaglobulinemia 7, 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/615214"> 615214 </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/6/385?start=-3&limit=10&highlight=385"> 6p21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619693"> Agammaglobulinemia 9, 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/619693"> 619693 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601416"> SLC39A7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601416"> 601416 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/557?start=-3&limit=10&highlight=557"> 9q34.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613506"> ?Agammaglobulinemia 5 </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/613506"> 613506 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608360"> LRRC8A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608360"> 608360 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/432?start=-3&limit=10&highlight=432"> 10q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613502"> ?Agammaglobulinemia 4 </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/613502"> 613502 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604515"> BLNK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604515"> 604515 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/362?start=-3&limit=10&highlight=362"> 11p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619707"> Agammaglobulinemia 10, 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/619707"> 619707 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/165170"> SPI1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/165170"> 165170 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/618?start=-3&limit=10&highlight=618"> 14q32.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601495"> Agammaglobulinemia 1 </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/601495"> 601495 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147020"> IGHM </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147020"> 147020 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/851?start=-3&limit=10&highlight=851"> 17q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612692"> Agammaglobulinemia 6 </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/612692"> 612692 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147245"> CD79B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147245"> 147245 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/62?start=-3&limit=10&highlight=62"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616941"> Agammaglobulinemia 8A, 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/616941"> 616941 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147141"> TCF3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147141"> 147141 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/742?start=-3&limit=10&highlight=742"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613501"> Agammaglobulinemia 3 </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/613501"> 613501 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/112205"> CD79A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/112205"> 112205 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/97?start=-3&limit=10&highlight=97"> 22q11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613500"> Agammaglobulinemia 2 </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/613500"> 613500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146770"> IGLL1 </a>
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<a href="/entry/146770"> 146770 </a>
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<a href="/geneMap/X/106?start=-3&limit=10&highlight=106"> Xp22.12 </a>
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<a href="/entry/300310"> ?Immunodeficiency 61 </a>
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/300310"> 300310 </a>
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<a href="/entry/300374"> SH3KBP1 </a>
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<a href="/entry/300374"> 300374 </a>
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<a href="/geneMap/X/500?start=-3&limit=10&highlight=500"> Xq22.1 </a>
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<a href="/entry/300755"> Agammaglobulinemia, X-linked 1 </a>
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/300755"> 300755 </a>
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<a href="/entry/300300"> BTK </a>
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<a href="/entry/300300"> 300300 </a>
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<p>A number sign (#) is used with this entry because X-linked agammaglobulinemia/hypogammaglobulinemia (XLA) is caused by mutation in the gene encoding Bruton tyrosine kinase (BTK; <a href="/entry/300300">300300</a>) on chromosome Xq22.</p>
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<p>X-linked agammaglobulinemia is an immunodeficiency characterized by failure to produce mature B lymphocytes and associated with a failure of Ig heavy chain rearrangement. The defect in this disorder resides in BTK, also known as BPK or ATK, a key regulator in B-cell development (<a href="#42" class="mim-tip-reference" title="Rawlings, D. J., Witte, O. N. &lt;strong&gt;Bruton&#x27;s tyrosine kinase is a key regulator in B-cell development.&lt;/strong&gt; Immun. Rev. 138: 105-119, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8070812/&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;8070812&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1600-065x.1994.tb00849.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="8070812">Rawlings and Witte, 1994</a>). The X-linked form accounts for approximately 85 to 90% of cases of the disorder. Also see <a href="/entry/300310">300310</a>. The remaining 15% of cases constitute a heterogeneous group of autosomal disorders (<a href="#28" class="mim-tip-reference" title="Lopez Granados, E., Porpiglia, A. S., Hogan, M. B., Matamoros, N., Krasovec, S., Pignata, C., Smith, C. I. E., Hammarstrom, L., Bjorkander, J., Belohradsky, B. H., Casariego, G. F., Garcia Rodriguez, M. C., Conley, M. E. &lt;strong&gt;Clinical and molecular analysis of patients with defects in mu heavy chain gene.&lt;/strong&gt; J. Clin. Invest. 110: 1029-1035, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12370281/&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;12370281&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12370281[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/JCI15658&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="12370281">Lopez Granados et al., 2002</a>; <a href="#10" class="mim-tip-reference" title="Ferrari, S., Lougaris, V., Caraffi, S., Zuntini, R., Yang, J., Soresina, A., Meini, A., Cazzola, G., Rossi, C., Reth, M., Plebani, A. &lt;strong&gt;Mutations of the Ig-beta gene cause agammaglobulinemia in man.&lt;/strong&gt; J. Exp. Med. 204: 2047-2051, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17709424/&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;17709424&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=17709424[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/10.1084/jem.20070264&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="17709424">Ferrari et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8070812+17709424+12370281" 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 Agammaglobulinemia/Hypogammaglobulinemia</em></strong></p><p>
A form of X-linked hypogammaglobulinemia (IMD61; <a href="/entry/300310">300310</a>) is caused by mutation in the SH3KBP1 gene (<a href="/entry/300374">300374</a>) on chromosome Xq22.</p><p>See agammaglobulinemia-1 (AGM1; <a href="/entry/601495">601495</a>) for a discussion of genetic heterogeneity of autosomal forms of agammaglobulinemia.</p>
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<p>X-linked agammaglobulinemia, the first genetic immunodeficiency to be specifically identified, was described by <a href="#3" class="mim-tip-reference" title="Bruton, O. C. &lt;strong&gt;Agammaglobulinemia.&lt;/strong&gt; Pediatrics 9: 722-727, 1952.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14929630/&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;14929630&lt;/a&gt;]" pmid="14929630">Bruton (1952)</a>. Patients are unusually prone to bacterial infection but not to viral infection. A clinical picture resembling rheumatoid arthritis develops in many. Before antibiotics, death occurred in the first decade. In the more usual X-linked form of the disease, plasma cells are lacking. A rarer form of agammaglobulinemia (<a href="#16" class="mim-tip-reference" title="Hitzig, W. H., Willi, H. &lt;strong&gt;Hereditary lymphoplasmocytic dysgenesis (&#x27;alymphocytose mit agammaglobulinamia&#x27;).&lt;/strong&gt; Schweiz. Med. Wschr. 91: 1625-1633, 1961.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13907792/&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;13907792&lt;/a&gt;]" pmid="13907792">Hitzig and Willi, 1961</a>), which is inherited as an autosomal recessive (<a href="/entry/601457">601457</a>), shows marked depression of the circulating lymphocytes, and lymphocytes are absent from the lymphoid tissue. The alymphocytotic type (also see <a href="/entry/300400">300400</a>) is even more virulent than the Bruton form, leading to death in the first 18 months after birth from severe thrush, chronic diarrhea, and recurrent pulmonary infections. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13907792+14929630" 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="#53" class="mim-tip-reference" title="Seligmann, M., Fudenberg, H. H., Good, R. A. &lt;strong&gt;A proposed classification of primary immunologic deficiencies. (Editorial)&lt;/strong&gt; Am. J. Med. 45: 817-825, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5722637/&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;5722637&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9343(68)90180-0&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="5722637">Seligmann et al. (1968)</a> proposed a classification of immunologic deficiencies. <a href="#2" class="mim-tip-reference" title="Ament, M. E., Ochs, H. D., Davis, S. D. &lt;strong&gt;Structure and function of the gastrointestinal tract in primary immunodeficiency syndromes: a study of 39 patients.&lt;/strong&gt; Medicine 52: 227-248, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20407413/&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;20407413&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00005792-197305000-00004&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="20407413">Ament et al. (1973)</a> pointed out that gastrointestinal infestation with Giardia lamblia is frequent in this and other forms of immunodeficiency. Infection with Campylobacter jejuni and Salmonella spp is also frequent (<a href="#33" class="mim-tip-reference" title="Melamed, I., Bujanover, Y., Igra, Y. S., Schwartz, D., Zakuth, V., Spirer, Z. &lt;strong&gt;Campylobacter enteritis in normal and immunodeficient children.&lt;/strong&gt; Am. J. Dis. Child. 137: 752-753, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6869333/&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;6869333&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archpedi.1983.02140340036009&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="6869333">Melamed et al., 1983</a>). Giardiasis may lead to malabsorption, while C. jejuni infection may result in recurrent fever (<a href="#57" class="mim-tip-reference" title="van der Meer, J. W. M., Mouton, R. P., Daha, M. R., Schuurman, R. K. B. &lt;strong&gt;Campylobacter jejuni bacteraemia as a cause of recurrent fever in a patient with hypogammaglobulinaemia.&lt;/strong&gt; J. Infect. 12: 235-239, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3722839/&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;3722839&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0163-4453(86)94190-3&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="3722839">van der Meer et al., 1986</a>; <a href="#20" class="mim-tip-reference" title="Kerstens, P. J. S. M., Endtz, H. P., Meis, J. F. G. M., Oyen, W. J. G., Koopman, R. J. I., van den Broek, P. J., van der Meer, J. W. M. &lt;strong&gt;Erysipelas-like skin lesions associated with Campylobacter jejuni septicemia in patients with hypogammaglobulinemia.&lt;/strong&gt; Europ. J. Clin. Microbiol. Infect. Dis. 11: 842-847, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1468426/&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;1468426&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01960888&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="1468426">Kerstens et al., 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20407413+6869333+3722839+1468426+5722637" 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="#12" class="mim-tip-reference" title="Geha, R. S., Rosen, F. S., Merler, E. &lt;strong&gt;Identification and characterization of subpopulations of lymphocytes in human peripheral blood after fractionation on discontinuous gradients of albumin: the cellular defect in X-linked agammaglobulinemia.&lt;/strong&gt; J. Clin. Invest. 52: 1726-1734, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4578158/&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;4578158&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI107354&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="4578158">Geha et al. (1973)</a> showed that males with proven X-linked agammaglobulinemias lacked bone marrow-derived (B) lymphocytes from the circulating blood, whereas progenitor and thymus (T) cells were normal. See <a href="/entry/301000">301000</a> and <a href="/entry/308230">308230</a> for other X-linked deficiencies of immunoglobulins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4578158" 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>Although patients have recurrent bacterial infections, they generally have a normal response to viral infection, presumably because cell-mediated immunity is intact. A notable exception is the usually fatal echovirus-induced meningoencephalitis, which is often associated with the 'dermatomyositis-like' syndrome first described by <a href="#18" class="mim-tip-reference" title="Janeway, C. A., Gitlin, D., Craig, J. M., Grice, D. C. &lt;strong&gt;&#x27;Collagen disease&#x27; in patients with congenital agammaglobulinemia.&lt;/strong&gt; Trans. Assoc. Am. Phys. 69: 93-97, 1956.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13380950/&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;13380950&lt;/a&gt;]" pmid="13380950">Janeway et al. (1956)</a>. <a href="#32" class="mim-tip-reference" title="Mease, P. J., Ochs, H. D., Wedgwood, R. J. &lt;strong&gt;Successful treatment of echovirus meningoencephalitis and myositis-fasciitis with intravenous immune globulin therapy in a patient with X-linked agammaglobulinemia.&lt;/strong&gt; New Eng. J. Med. 304: 1278-1281, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6783908/&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;6783908&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198105213042107&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="6783908">Mease et al. (1981)</a> successfully treated a 32-year-old man who developed signs of myopathy and encephalopathy over a period of 3 months. Echo 11 virus was recovered from muscle and spinal fluid. In vitro lymphocyte transformation was temporarily markedly depressed by the infection. High doses of immune globulin given intravenously cured the man of this usually fatal complication. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6783908+13380950" 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="#43" class="mim-tip-reference" title="Rosen, F. S., Cooper, M. D., Wedgwood, R. J. P. &lt;strong&gt;The primary immunodeficiencies.&lt;/strong&gt; New Eng. J. Med. 311: 235-242 and 300-310, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6234467/&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;6234467&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198407263110406&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="6234467">Rosen et al. (1984)</a> reviewed primary immunodeficiencies, giving a classification according to whether the immunodeficiency was predominantly one of antibody formation, was predominantly one of cell-mediated immunity, or was associated with other defects as in ataxia-telangiectasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6234467" 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="#26" class="mim-tip-reference" title="Lederman, H. M., Winkelstein, J. A. &lt;strong&gt;X-linked agammaglobulinemia: an analysis of 96 patients.&lt;/strong&gt; Medicine 64: 145-156, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2581110/&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;2581110&lt;/a&gt;]" pmid="2581110">Lederman and Winkelstein (1985)</a> collected data from 96 patients cared for in 26 North American medical centers and representing a total experience of almost 1,200 patient-years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2581110" 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>Boys with agammaglobulinemia lack circulating B cells. <a href="#24" class="mim-tip-reference" title="Landreth, K. S., Engelhard, D., Anasetti, C., Kapoor, N., Kincade, P. W., Good, R. A. &lt;strong&gt;Pre-B cells in agammaglobulinemia: evidence for disease heterogeneity among affected boys.&lt;/strong&gt; J. Clin. Immun. 5: 84-89, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3872879/&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;3872879&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00915005&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="3872879">Landreth et al. (1985)</a> described 4 boys with agammaglobulinemia who lacked pre-B lymphocytes. In classic agammaglobulinemia, pre-B cells are present in normal numbers in the bone marrow but appear to be either blocked or aborted in their ability to mature, express surface immunoglobulins, or produce antibody. In the boys who lacked pre-B cells, clinical presentation with recurrent infections was delayed until the second or third year. None of the 4 boys had a history of recurrent infection or similar disease in maternal first cousins or uncles. Two of the patients were brothers. The mode of inheritance is unclear. The immune defect resembled that of the thymoma-agammaglobulinemia syndrome, but thymoma was not present in any of the 4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3872879" 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="#56" class="mim-tip-reference" title="Thorsteinsson, L., Ogmundsdottir, H. M., Sigfusson, A., Arnason, A., Eyjolfsson, G., Jensson, O. &lt;strong&gt;The first Icelandic family with X-linked agammaglobulinaemia: studies of genetic markers and immune function.&lt;/strong&gt; Scand. J. Immun. 32: 273-280, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2402596/&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;2402596&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-3083.1990.tb02920.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="2402596">Thorsteinsson et al. (1990)</a> described studies in 3 brothers with IMD1, the first of whom was diagnosed in 1963 at the age of 9 years and died at the age of 23. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2402596" 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="van der Meer, J. W. M., Weening, R. S., Schellekens, P. T. A., van Munster, I. P., Nagengast, F. M. &lt;strong&gt;Colorectal cancer in patients with X-linked agammaglobulinaemia.&lt;/strong&gt; Lancet 341: 1439-1440, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8099142/&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;8099142&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0140-6736(93)90883-i&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="8099142">Van der Meer et al. (1993)</a> reported the cases of 3 unrelated men with XLA who developed colorectal cancer at the ages of 26, 29, and 36 years. <a href="#58" class="mim-tip-reference" title="van der Meer, J. W. M., Weening, R. S., Schellekens, P. T. A., van Munster, I. P., Nagengast, F. M. &lt;strong&gt;Colorectal cancer in patients with X-linked agammaglobulinaemia.&lt;/strong&gt; Lancet 341: 1439-1440, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8099142/&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;8099142&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0140-6736(93)90883-i&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="8099142">Van der Meer et al. (1993)</a> suggested that there is an increased risk of colorectal cancer in these individuals and that it may be related to intestinal infections. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8099142" 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="#37" class="mim-tip-reference" title="Ochs, H. D., Smith, C. I. E. &lt;strong&gt;X-linked agammaglobulinemia: a clinical and molecular analysis.&lt;/strong&gt; Medicine 75: 287-299, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8982147/&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;8982147&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00005792-199611000-00001&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="8982147">Ochs and Smith (1996)</a> provided a comprehensive review of the clinical and molecular aspects of X-linked agammaglobulinemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8982147" 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="#54" class="mim-tip-reference" title="Smith, C. I. E., Witte, O. N. &lt;strong&gt;X-linked agammaglobulinemia: a disease of Btk tyrosine kinase.In: Ochs, H. D.; Smith, C. I. E.; Puck, J. M. (eds.) : Primary Immunodeficiency Diseases: A Molecular and Genetic Approach.&lt;/strong&gt; New York: Oxford University Press 1999. Pp. 263-284."None>Smith and Witte (1999)</a> provided a comprehensive review of XLA. XLA is characterized by an increased susceptibility mainly to extracellular bacterial infections; however, enteroviral infections frequently run a severe course and often resist therapy (<a href="#26" class="mim-tip-reference" title="Lederman, H. M., Winkelstein, J. A. &lt;strong&gt;X-linked agammaglobulinemia: an analysis of 96 patients.&lt;/strong&gt; Medicine 64: 145-156, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2581110/&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;2581110&lt;/a&gt;]" pmid="2581110">Lederman and Winkelstein, 1985</a>; <a href="#31" class="mim-tip-reference" title="McKinney, R. E., Jr., Katz, S. L., Wilfert, C. M. &lt;strong&gt;Chronic enteroviral meningoencephalitis in agammaglobulinemic patients.&lt;/strong&gt; Rev. Infect. Dis. 9: 334-356, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3296100/&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;3296100&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/clinids/9.2.334&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="3296100">McKinney et al., 1987</a>; <a href="#37" class="mim-tip-reference" title="Ochs, H. D., Smith, C. I. E. &lt;strong&gt;X-linked agammaglobulinemia: a clinical and molecular analysis.&lt;/strong&gt; Medicine 75: 287-299, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8982147/&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;8982147&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00005792-199611000-00001&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="8982147">Ochs and Smith, 1996</a>). <a href="#44" class="mim-tip-reference" title="Rudge, P., Webster, A. D., Revesz, T., Warner, T., Espanol, T., Cunningham-Rundles, C., Hyman, N. &lt;strong&gt;Encephalomyelitis in primary hypogammaglobulinaemia.&lt;/strong&gt; Brain 119: 1-15, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8624673/&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;8624673&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/119.1.1&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="8624673">Rudge et al. (1996)</a> described a patient with XLA who had an enteroviral infection, presumably contracted at 8 years of age. Autopsy performed at 17 years of age, after several years of progressive dementia, showed severe thinning of the cerebral cortex, reduced subcortical and deep white matter, and marked dilatation of the lateral ventricles. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8624673+3296100+8982147+2581110" 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="Wood, P. M. D., Mayne, A., Joyce, H., Smith, C. I. E., Granoff, D. M., Kumararatne, D. S. &lt;strong&gt;A mutation in Bruton&#x27;s tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency.&lt;/strong&gt; J. Pediat. 139: 148-151, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11445810/&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;11445810&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1067/mpd.2001.115970&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="11445810">Wood et al. (2001)</a> described a 25-year-old man with a selective antipolysaccharide antibody deficiency who was found to have a previously described mutation (<a href="/entry/300300#0005">300300.0005</a>) in the BTK gene. From the age of 23 years, his IgG level had fallen slightly below the normal range, but he had remained well on antibiotic prophylaxis for 12 years. The authors suggested that male patients with antipolysaccharide antibody deficiency should be evaluated for B-cell lymphopenia and Btk mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11445810" 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="#7" class="mim-tip-reference" title="Edwards, N. L., Magilavy, D. B., Cassidy, J. T., Fox, I. H. &lt;strong&gt;Lymphocyte ecto-5-prime-nucleotidase deficiency in agammaglobulinemia.&lt;/strong&gt; Science 201: 628-630, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/27864/&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;27864&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.27864&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="27864">Edwards et al. (1978)</a> showed reduced ecto-5-prime-nucleotidase (<a href="/entry/129190">129190</a>) activity in peripheral blood lymphocytes. This is an ectoenzyme that regulates the uptake of AMP into lymphocytes by converting the nontransportable nucleotide to its readily transported nucleoside, adenosine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27864" 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="#25" class="mim-tip-reference" title="Lau, Y. L., Levinsky, R. J., Malcolm, S., Goodship, J., Winter, R., Pembrey, M. &lt;strong&gt;Genetic prediction in X-linked agammaglobulinaemia.&lt;/strong&gt; Am. J. Med. Genet. 31: 437-448, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3232706/&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;3232706&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320310224&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="3232706">Lau et al. (1988)</a> discussed the calculation of genetic risks in XLA, including allowance for nonallelic genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3232706" 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="#15" class="mim-tip-reference" title="Hendriks, R. W., Mensink, E. J. B. M., Kraakman, M. E. M., Thompson, A., Schuurman, R. K. B. &lt;strong&gt;Evidence for male X chromosomal mosaicism in X-linked agammaglobulinemia.&lt;/strong&gt; Hum. Genet. 83: 267-270, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2571563/&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;2571563&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00285169&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="2571563">Hendriks et al. (1989)</a> described a family in which each of 2 sisters had a son with XLA. The 2 sisters with affected sons and another sister all showed exclusive inactivation of the paternal X chromosome in B lymphocytes, indicating that the gene for XLA came from their father, who, however, had no agammaglobulinemia. He was presumed to be an X chromosomal mosaic. RFLP segregation analyses in other XLA pedigrees suggested that this may be a frequent situation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2571563" 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="#45" class="mim-tip-reference" title="Sakamoto, M., Kanegane, H., Fujii, H., Tsukada, S., Miyawaki, T., Shinomiya, N. &lt;strong&gt;Maternal germinal mosaicism of X-linked agammaglobulinemia.&lt;/strong&gt; Am. J. Med. Genet. 99: 234-237, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11241495/&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;11241495&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1096-8628(2001)9999:9999&lt;::aid-ajmg1159&gt;3.0.co;2-m&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="11241495">Sakamoto et al. (2001)</a> suggested maternal germinal mosaicism to explain the finding of 2 sibs with XLA who had a single base deletion (563C) in exon 6 of the BTK gene and whose mother had no evidence of the mutation. Cytoplasmic expression of BTK protein in monocytes was not detected in either patient; normal cytoplasmic expression of BTK protein was found in monocytes of the mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11241495" 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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<strong>Mapping</strong>
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<p><a href="#41" class="mim-tip-reference" title="Race, R., Sanger, R. &lt;strong&gt;Blood Groups in Man. (6th ed.)&lt;/strong&gt; Oxford: Blackwell (pub.) 1975. P. 601."None>Race and Sanger (1975)</a> thought that the agammaglobulinemia locus was possibly linked to Xg; the lod scores were positive but low at a recombination fraction of 30%.</p><p>In 12 families, including an extensively affected Dutch kindred of 8 generations, <a href="#34" class="mim-tip-reference" title="Mensink, E. J. B. M., Schot, J. D. L., Tippett, P., Ott, J., Schuurman, R. K. B. &lt;strong&gt;X-linked agammaglobulinemia and the red blood cell determinants Xg and 12E7 are not closely linked.&lt;/strong&gt; Hum. Genet. 68: 303-309, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6595200/&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;6595200&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00292589&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="6595200">Mensink et al. (1984)</a> studied linkage with Xg (<a href="/entry/314700">314700</a>) and the 12E7 polymorphism that is closely linked to Xg. They concluded that XLA and Xg are at least 20 cM apart. <a href="#5" class="mim-tip-reference" title="Cohen, D. I., Hedrick, S. M., Nielsen, E. A., D&#x27;Eustachio, P., Ruddle, F., Steinberg, A. D., Paul, W. E., Davis, M. M. &lt;strong&gt;Isolation of a cDNA clone corresponding to an X-linked gene family (XLR) closely linked to the murine immunodeficiency disorder xid.&lt;/strong&gt; Nature 314: 369-372, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2984575/&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;2984575&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/314369a0&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="2984575">Cohen et al. (1985)</a> isolated a cDNA probe recognizing a family of genes, called Xlr (see <a href="/entry/300113">300113</a>), on the mouse X chromosome, at least some members of which are closely linked to the xid trait. In accompanying studies, <a href="#5" class="mim-tip-reference" title="Cohen, D. I., Hedrick, S. M., Nielsen, E. A., D&#x27;Eustachio, P., Ruddle, F., Steinberg, A. D., Paul, W. E., Davis, M. M. &lt;strong&gt;Isolation of a cDNA clone corresponding to an X-linked gene family (XLR) closely linked to the murine immunodeficiency disorder xid.&lt;/strong&gt; Nature 314: 369-372, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2984575/&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;2984575&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/314369a0&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="2984575">Cohen et al. (1985)</a> presented data which, combined with the RFLP analysis closely linking the Xlr gene family to the xid mutation, suggest that the xid defect resides in a member of this family. From a study of the comparative mapping of the human and mouse X chromosomes, <a href="#4" class="mim-tip-reference" title="Buckle, V. J., Edwards, J. H., Evans, E. P., Jonasson, J. A., Lyon, M. F., Peters, J., Searle, A. G. &lt;strong&gt;Comparative maps of human and mouse X chromosomes. (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 40: 594-595, 1985."None>Buckle et al. (1985)</a> predicted that the XLA locus of man may be on Xq between PGK1 (<a href="/entry/311800">311800</a>) and GLA (<a href="/entry/300644">300644</a>), i.e., in the segment Xq13-Xq22. This remarkable prediction was borne out by the findings of <a href="#22" class="mim-tip-reference" title="Kwan, S.-P., Kunkel, L., Bruns, G., Wedgwood, R. J., Latt, S., Rosen, F. S. &lt;strong&gt;Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism.&lt;/strong&gt; J. Clin. Invest. 77: 649-652, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3003164/&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;3003164&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI112351&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="3003164">Kwan et al. (1986)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3003164+2984575+6595200" 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>By RFLP studies in 11 families, they showed that XLA is linked to 2 markers, DXS3 and DXS17, both localized in region Xq21.3-q22 (lod = 3.65 at theta = 0.04 and lod = 2.17 at theta = 0.0, respectively). In a single 8-generation Dutch kindred, <a href="#36" class="mim-tip-reference" title="Mensink, E. J. B. M., Thompson, A., Schot, J. D. L., van de Greef, W. M. M., Sandkuyl, L. A., Schuurman, R. K. B. &lt;strong&gt;Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity.&lt;/strong&gt; Hum. Genet. 73: 327-332, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3502688/&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;3502688&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00279095&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="3502688">Mensink et al. (1986)</a> found a maximum lod score of 3.30 at a recombination fraction of 0.06 for linkage of XLA and marker p19-2 (DXS3). In another pedigree, similar linkage to DXS3 was excluded (lod = -3.14 at theta 0.06). This suggested the existence of a second form of X-linked agammaglobulinemia; data obtained by <a href="#36" class="mim-tip-reference" title="Mensink, E. J. B. M., Thompson, A., Schot, J. D. L., van de Greef, W. M. M., Sandkuyl, L. A., Schuurman, R. K. B. &lt;strong&gt;Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity.&lt;/strong&gt; Hum. Genet. 73: 327-332, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3502688/&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;3502688&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00279095&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="3502688">Mensink et al. (1986)</a> from all pedigrees suggested localization of a second XLA gene in the Xp22 band as defined by marker p99-6 (DXS41); see <a href="/entry/300310">300310</a>. This is a possible parallel to the historic demonstration of heterogeneity in elliptocytosis (<a href="/entry/611804">611804</a>) by the linkage principle. <a href="#36" class="mim-tip-reference" title="Mensink, E. J. B. M., Thompson, A., Schot, J. D. L., van de Greef, W. M. M., Sandkuyl, L. A., Schuurman, R. K. B. &lt;strong&gt;Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity.&lt;/strong&gt; Hum. Genet. 73: 327-332, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3502688/&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;3502688&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00279095&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="3502688">Mensink et al. (1986)</a> predicted that more detailed molecular studies 'will ultimately reveal phenotypic differences, reflecting different XLA gene loci, one of them probably coding for a recombinase involved in immunoglobulin heavy-chain rearrangements (<a href="#50" class="mim-tip-reference" title="Schwaber, J., Molgaard, H., Orkin, S. H., Gould, H. J., Rosen, F. S. &lt;strong&gt;Early pre-B cells from normal and X-linked agammaglobulinaemia produce C(mu) without an attached V(H) region.&lt;/strong&gt; Nature 304: 355-358, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6192341/&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;6192341&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/304355a0&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="6192341">Schwaber et al., 1983</a>) and the other(s) being involved in later stages of precursor B cell differentiation (<a href="#27" class="mim-tip-reference" title="Levitt, D., Ochs, H., Wedgwood, R. J. &lt;strong&gt;Epstein-Barr virus-induced lymphoblastoid cell lines derived from the peripheral blood of patients with X-linked agammaglobulinemia can secrete IgM.&lt;/strong&gt; J. Clin. Immun. 4: 143-150, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6327761/&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;6327761&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00915048&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="6327761">Levitt et al., 1984</a>). 'With a multipoint linkage analysis in 9 families with XLA, <a href="#38" class="mim-tip-reference" title="Ott, J., Mensink, E. J. B. M., Thompson, A., Schot, J. D. L., Schuurman, R. K. B. &lt;strong&gt;Heterogeneity in the map distance between X-linked agammaglobulinemia and a map of nine RFLP loci.&lt;/strong&gt; Hum. Genet. 74: 280-283, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2877937/&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;2877937&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00282549&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="2877937">Ott et al. (1986)</a> concluded that there was 'clear evidence for heterogeneity of XLA.' The finding of possible linkage to Xg by <a href="#41" class="mim-tip-reference" title="Race, R., Sanger, R. &lt;strong&gt;Blood Groups in Man. (6th ed.)&lt;/strong&gt; Oxford: Blackwell (pub.) 1975. P. 601."None>Race and Sanger (1975)</a> may have been related to their having a mixture of 'Xp' and 'Xq' families. <a href="#30" class="mim-tip-reference" title="Malcolm, S., Goodship, J., Read, A. P., Donnai, D., Levinsky, R. J. &lt;strong&gt;Linkage of Bruton&#x27;s agammaglobulinemia (IMD1) to probes in Xq21.3-22: evidence for a second gene coding for X linked agammaglobulinemia. (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 51: 1038, 1989."None>Malcolm et al. (1989)</a> presented further evidence, based on linkage data, for the existence of 2 loci. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6327761+6192341+2877937+3502688" 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="#35" class="mim-tip-reference" title="Mensink, E. J. B. M., Thompson, A., Schot, J. D. L., Kraakman, M. E. M., Sandkuyl, L. A., Schuurman, R. K. B. &lt;strong&gt;Genetic heterogeneity in X-linked agammaglobulinemia complicates carrier detection and prenatal diagnosis.&lt;/strong&gt; Clin. Genet. 31: 91-96, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2881637/&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;2881637&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1987.tb02775.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="2881637">Mensink et al. (1987)</a> mapped XLA to Xq21.3-q22. No recombination was found between XLA and DXS17 (lod = greater than 6 at theta = 0); no recombinants were found between XLA and DXS17 in this study or in the study by <a href="#22" class="mim-tip-reference" title="Kwan, S.-P., Kunkel, L., Bruns, G., Wedgwood, R. J., Latt, S., Rosen, F. S. &lt;strong&gt;Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism.&lt;/strong&gt; J. Clin. Invest. 77: 649-652, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3003164/&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;3003164&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI112351&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="3003164">Kwan et al. (1986)</a>--with the exception of the remarkable Z pedigree which may have carried a different form of agammaglobulinemia. <a href="#29" class="mim-tip-reference" title="Malcolm, S., de Saint Basile, G., Arveiler, B., Lau, Y. L., Szabo, P., Fischer, A., Griscelli, C., Debre, M., Mandel, J. L., Callard, R. E., Robertson, M. E., Goodship, J. A., Pembrey, M. E., Levinsky, R. J. &lt;strong&gt;Close linkage of random DNA fragments from Xq21.3-22 to X-linked agammaglobulinaemia (XLA).&lt;/strong&gt; Hum. Genet. 77: 172-174, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2888720/&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;2888720&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00272387&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="2888720">Malcolm et al. (1987)</a> demonstrated close linkage to DNA markers in the Xq21.3-q22 region in studies of 15 families. <a href="#14" class="mim-tip-reference" title="Guioli, S., Arveiler, B., Bardoni, B., Notarangelo, L. D., Panina, P., Duse, M., Ugazio, A., Oberle, I., de Saint Basile, G., Mandel, J. L., Camerino, G. &lt;strong&gt;Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia.&lt;/strong&gt; Hum. Genet. 84: 19-21, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2575070/&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;2575070&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00210664&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="2575070">Guioli et al. (1989)</a> found close linkage of IMD1 and DXS178. No recombinants were observed, giving a maximum lod score of 5.92 at theta = 0. <a href="#23" class="mim-tip-reference" title="Kwan, S.-P., Terwilliger, J., Parmley, R., Raghu, G., Sandkuyl, L. A., Ott, J., Ochs, H., Wedgwood, R., Rosen, F. &lt;strong&gt;Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus.&lt;/strong&gt; Genomics 6: 238-242, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2307467/&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;2307467&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0888-7543(90)90562-9&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="2307467">Kwan et al. (1990)</a> demonstrated another marker closely linked to XLA, DXS178. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2888720+2307467+2881637+3003164+2575070" 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>
</span>
<div>
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</div>
</div>
<div>
<a id="diagnosis" class="mim-anchor"></a>
<h4 href="#mimDiagnosisFold" id="mimDiagnosisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDiagnosisToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
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<div id="mimDiagnosisFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#9" class="mim-tip-reference" title="Fearon, E. R., Winkelstein, J. A., Civin, C. I., Pardoll, D. M., Vogelstein, B. &lt;strong&gt;Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation.&lt;/strong&gt; New Eng. J. Med. 316: 427-431, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2880293/&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;2880293&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198702193160802&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="2880293">Fearon et al. (1987)</a> used a strategy similar to that of <a href="#6" class="mim-tip-reference" title="Conley, M. E., Brown, P., Pickard, A. R., Buckley, R. H., Miller, D. S., Raskind, W. H., Singer, J. W., Fialkow, P. J. &lt;strong&gt;Expression of the gene defect in X-linked agammaglobulinemia.&lt;/strong&gt; New Eng. J. Med. 315: 564-567, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3488506/&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;3488506&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198608283150907&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="3488506">Conley et al. (1986)</a> to show that the defect in XLA is intrinsic to B cells as well as to detect the carrier state. According to their strategy, recombinant DNA probes simultaneously detect RFLPs and patterns of methylation of X-chromosome genes. (Different DNA methylation patterns reflect whether the X chromosome is active or inactive and these differences in methylation can be monitored by restriction endonucleases that have the capacity to recognize methylated cytosine residues.) Random X-inactivation patterns were observed in isolated peripheral blood granulocytes, T lymphocytes, and B lymphocytes of women who were not carriers. In contrast, 1 of the 2 X chromosomes was preferentially active in the B cells, but not the T cells or granulocytes, of 3 carriers of the disorder. <a href="#9" class="mim-tip-reference" title="Fearon, E. R., Winkelstein, J. A., Civin, C. I., Pardoll, D. M., Vogelstein, B. &lt;strong&gt;Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation.&lt;/strong&gt; New Eng. J. Med. 316: 427-431, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2880293/&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;2880293&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198702193160802&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="2880293">Fearon et al. (1987)</a> used X-chromosome inactivation analysis to demonstrate that the X chromosome with the wildtype allele at the agammaglobulinemia locus was the active one in all the B cells. <a href="#1" class="mim-tip-reference" title="Allen, R. C., Nachtman, R. G., Rosenblatt, H. M., Belmont, J. W. &lt;strong&gt;Application of carrier testing to genetic counseling for X-linked agammaglobulinemia.&lt;/strong&gt; Am. J. Hum. Genet. 54: 25-35, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7506482/&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;7506482&lt;/a&gt;]" pmid="7506482">Allen et al. (1994)</a> tested carrier status by study of B lymphocytes and T lymphocytes separated by means of antibodies to the B-cell specific antigen CD19 (<a href="/entry/107265">107265</a>). B lymphocytes were isolated from the mononuclear cell fraction of 20 cc of blood by using anti-CD19 immunomagnetic beads. Quantitative PCR at the androgen-receptor locus was then used to examine patterns of X inactivation in CD19-positive B cells. The trinucleotide repeat at the androgen receptor locus (AR; <a href="/entry/313700">313700</a>) is within approximately 100 bp of 2 HpaII restriction-enzyme sites that are methylated on the inactive X chromosome but unmethylated on the active X chromosome. Obligate carriers of XLA demonstrated more than 95% skewing of X inactivation in CD19-positive cells but not in CD19-negative cells. <a href="#1" class="mim-tip-reference" title="Allen, R. C., Nachtman, R. G., Rosenblatt, H. M., Belmont, J. W. &lt;strong&gt;Application of carrier testing to genetic counseling for X-linked agammaglobulinemia.&lt;/strong&gt; Am. J. Hum. Genet. 54: 25-35, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7506482/&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;7506482&lt;/a&gt;]" pmid="7506482">Allen et al. (1994)</a> suggested that refinements in techniques for primary carrier testing and genetic mapping of XLA make possible an ordered approach to prenatal diagnosis and genetic counseling. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2880293+7506482+3488506" 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="Schuurman, R. K. B., Mensink, E. J. B. M., Sandkuyl, L. A., Post, E. D. M., van Velzen-Blad, H. &lt;strong&gt;Early diagnosis in X-linked agammaglobulinaemia.&lt;/strong&gt; Europ. J. Pediat. 147: 93-95, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2892683/&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;2892683&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00442622&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="2892683">Schuurman et al. (1988)</a> demonstrated the usefulness of linked RFLP markers in identifying the carrier state and in the early diagnosis of XLA in a newborn son. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2892683" 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="#19" class="mim-tip-reference" title="Journet, O., Durandy, A., Doussau, M., Le Deist, F., Couvreur, J., Griscelli, C., Fischer, A., de Saint-Basile, G. &lt;strong&gt;Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia.&lt;/strong&gt; Am. J. Med. Genet. 43: 885-887, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642281/&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;1642281&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430527&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="1642281">Journet et al. (1992)</a> demonstrated that the pregnant mother of a boy with XLA but no family history of immune disease was a carrier by demonstrating with a methylation-sensitive probe that the X-inactivation pattern was skewed in the woman's B cells but random in her polymorphonuclear cells. Using RFLP probes flanking the XLA locus on each side, they excluded the diagnosis of XLA in the fetus on the basis of a chorionic villus sample (risk of error less than 0.003). Subsequent studies of the baby confirmed normality. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642281" 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>
</span>
<div>
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</div>
</div>
<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>
<span class="mim-font">
<strong>Pathogenesis</strong>
</span>
</h4>
</div>
<div id="mimPathogenesisFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#39" class="mim-tip-reference" title="Pearl, E. R., Vogler, L. B., Okos, A. J., Crist, W. M., Lawton, A. R., III, Cooper, M. D. &lt;strong&gt;B-lymphocyte precursors in human bone marrow: an analysis of normal individuals and patients with antibody-deficient states.&lt;/strong&gt; J. Immun. 120: 1169-1175, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/346998/&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;346998&lt;/a&gt;]" pmid="346998">Pearl et al. (1978)</a> showed that precursor B lymphocytes containing IgM heavy chains can be demonstrated in the bone marrow in XLA. This suggested that an arrest in the differentiation of precursor B lymphocytes into B lymphocytes may be involved. <a href="#50" class="mim-tip-reference" title="Schwaber, J., Molgaard, H., Orkin, S. H., Gould, H. J., Rosen, F. S. &lt;strong&gt;Early pre-B cells from normal and X-linked agammaglobulinaemia produce C(mu) without an attached V(H) region.&lt;/strong&gt; Nature 304: 355-358, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6192341/&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;6192341&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/304355a0&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="6192341">Schwaber et al. (1983)</a> found that about 5% of normal pre-B cells and 100% of XLA pre-B cells produce incomplete mu chains (<a href="/entry/147020">147020</a>), i.e., C(mu) polypeptide without associated V(H). Thus, XLA represents a block in differentiation secondary to failure to express V(H) genes. (Cytoplasmic mu-chain protein has served as a marker for pre-B cells. Mu-chain gene expression precedes rearrangement and expression of light-chain genes.) Presumably the X chromosome codes for enzyme(s) specific for translocation of V(H) genes or a regulatory mechanism necessary for pre-B cells to differentiate to a stage using these enzymes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6192341+346998" 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 sisters heterozygous for both XLA and G6PD A-/B polymorphism, <a href="#6" class="mim-tip-reference" title="Conley, M. E., Brown, P., Pickard, A. R., Buckley, R. H., Miller, D. S., Raskind, W. H., Singer, J. W., Fialkow, P. J. &lt;strong&gt;Expression of the gene defect in X-linked agammaglobulinemia.&lt;/strong&gt; New Eng. J. Med. 315: 564-567, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3488506/&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;3488506&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198608283150907&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="3488506">Conley et al. (1986)</a> found that B cells showed activity of only the A- form of G6PD, whereas T cells and neutrophils had about equal amounts of A- and B enzyme activity. This indicates that the basic defect in XLA is intrinsic to the B cell. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3488506" 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="#49" class="mim-tip-reference" title="Schwaber, J., Koenig, N., Girard, J. &lt;strong&gt;Correction of the molecular defect in B lymphocytes from X-linked agammaglobulinemia by cell fusion.&lt;/strong&gt; J. Clin. Invest. 82: 1471-1476, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3139715/&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;3139715&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI113754&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="3139715">Schwaber et al. (1988)</a> found an unusual phenotype of B cells in a patient with XLA, and cellular evidence for lyonization of B cells from the mother and sister. The patient had a failure of B-cell maturation at the stage of early B lymphocytes, associated with production of truncated mu and delta heavy chains composed of D-J(H)-C resulting from abortive rearrangement of variable region genes. There was also delayed expression of L chains. Peripheral blood and B-cell lines from the patient's mother and sister included 50% cells that expressed H chain without L chain. B-cell lines from the mother and sister produced both full-length mu and gamma H chains and truncated mu and delta chains corresponding to the H chains produced by the patient's B cells. <a href="#48" class="mim-tip-reference" title="Schwaber, J., Chen, R. H. &lt;strong&gt;Premature termination of variable gene rearrangement in B lymphocytes from X-linked agammaglobulinemia.&lt;/strong&gt; J. Clin. Invest. 81: 2004-2009, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2838527/&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;2838527&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI113550&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="2838527">Schwaber and Chen (1988)</a> concluded that failure of variable region gene rearrangement may underlie the failure of B lymphoid development in XLA. They observed that immature B cells from a patient produced truncated mu and delta immunoglobulin H chains. In cases of XLA there is variability in the stage at which the arrest of development occurs; the major phenotype is arrested at the stage of pre-B cells, while a minor phenotype is arrested at the stage of immature B lymphocytes. The failure of B lymphoid development is associated in both phenotypes with a failure of Ig heavy chain variable region rearrangement. The immature B cells of a patient with the minor phenotype of XLA produce truncated gamma and delta heavy chains composed of a D-J-constant complex resulting from failure to rearrange a V segment. <a href="#49" class="mim-tip-reference" title="Schwaber, J., Koenig, N., Girard, J. &lt;strong&gt;Correction of the molecular defect in B lymphocytes from X-linked agammaglobulinemia by cell fusion.&lt;/strong&gt; J. Clin. Invest. 82: 1471-1476, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3139715/&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;3139715&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI113754&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="3139715">Schwaber et al. (1988)</a> demonstrated that the fusion of these cells with mouse myeloma complemented the failure of V(H) gene rearrangement. H chains produced by such hybrid cells are composed of V(H)-D-J(H)-C. The genes encoding each of these elements were of human parental origin, indicating that the mouse myeloma provided a trans-acting regulatory element necessary for V(H) rearrangement which the XLA B cells lack. Complementation occurred in all hybrid cells examined, regardless of whether the human X chromosome was retained. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2838527+3139715" 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="Schwaber, J. &lt;strong&gt;Evidence for failure of V(D)J recombination in bone marrow pre-B cells from X-linked agammaglobulinemia.&lt;/strong&gt; J. Clin. Invest. 89: 2053-2059, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1602011/&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;1602011&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI115817&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="1602011">Schwaber (1992)</a> presented direct evidence that there is a failure of V(D)J recombination which causes arrest in the transition from pre-B cell to B lymphocyte. He pointed out that the arrest in B-cell development is not absolute: rare B lymphocytes have been identified in peripheral blood of some patients, and B-cell lines have been established from these cells by Epstein-Barr virus transformation. Leakiness of the mutation would not be inconsistent with the proposed mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1602011" 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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<strong>Molecular Genetics</strong>
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<p><strong><em>X-Linked Agammaglobulinemia</em></strong></p><p>
Using probes derived for the Southern analysis of DNA from 33 unrelated families and 150 normal X chromosomes, <a href="#59" class="mim-tip-reference" title="Vetrie, D., Vorechovsky, I., Sideras, P., Holland, J., Davies, A., Flinter, F., Hammarstrom, L., Kinnon, C., Levinsky, R., Bobrow, M., Smith, C. I. E., Bentley, D. R. &lt;strong&gt;The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.&lt;/strong&gt; Nature 361: 226-233, 1993. Note: Erratum: Nature 364: 362 only, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8380905/&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;8380905&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/361226a0&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="8380905">Vetrie et al. (1993)</a> detected restriction pattern abnormalities in 8 families. Five of them had deletions that were shown to be entirely intragenic to BTK, confirming involvement of BTK in XLA. Two single-base missense mutations (<a href="/entry/300300#0001">300300.0001</a> and <a href="/entry/300300#0002">300300.0002</a>) were identified in XLA patients. The failure of pre-B cells in the bone marrow of XLA males to develop into mature, circulating B cells could be the result of the product of the mutant ATK gene failing to fulfill its role in B-cell signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8380905" 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>For further information on the molecular genetics of XLA, see <a href="/entry/300300">300300</a>.</p><p><strong><em>X-Linked Hypogammaglobulinemia</em></strong></p><p>
<a href="#21" class="mim-tip-reference" title="Kornfeld, S. J., Kratz, J., Haire, R. N., Litman, G. W., Good, R. A. &lt;strong&gt;X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy.&lt;/strong&gt; J. Allergy Clin. Immun. 95: 915-917, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7722175/&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;7722175&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0091-6749(95)70138-9&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="7722175">Kornfeld et al. (1995)</a> described the case of a 16-year-old boy who had recurrent upper respiratory tract infections at 13 months of age and was diagnosed as having transient hypogammaglobulinemia of infancy on the basis of low immunoglobulin levels, normal diphtheria and tetanus antibody responses, normal anterior and posterior cervical nodes, normal tonsillar tissue, and normal numbers of B cells in the blood. IgA levels returned to normal at 15 months of age and remained within normal limits over the next 12 months, and IgG and IgM levels remained relatively unchanged. At age 10, he began receiving intravenous gammaglobulin, which resulted in cessation of infections. The clinical picture was thought to be that of common variable immunodeficiency disease. However, gene studies revealed the deletion of exon 16 of the BTK gene resulting from a splice junction defect. The patient represents an example of the extreme variation that can occur in the XLA phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7722175" 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="animalModel" class="mim-anchor"></a>
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<p>For information on animal models of XLA, including the X-linked immunodeficiency (xid) mouse mutation, see <a href="/entry/300300">300300</a>.</p>
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<a id="seeAlso" class="mim-anchor"></a>
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<strong>See Also:</strong>
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<span class="mim-text-font">
<a href="#Erlendsson1985" class="mim-tip-reference" title="Erlendsson, K., Swartz, T., Dwyer, J. M. &lt;strong&gt;Successful reversal of echovirus encephalitis in X-linked hypogammaglobulinemia by intraventricular administration of immunoglobulin.&lt;/strong&gt; New Eng. J. Med. 312: 351-353, 1985.">Erlendsson et al. (1985)</a>; <a href="#Garvie1961" class="mim-tip-reference" title="Garvie, J. M., Kendall, A. C. &lt;strong&gt;Congenital agammaglobulinaemia: report of two further cases.&lt;/strong&gt; Brit. Med. J. 1: 548-550, 1961.">Garvie and Kendall (1961)</a>; <a href="#Gitlin1963" class="mim-tip-reference" title="Gitlin, D., Craig, J. M. &lt;strong&gt;The thymus and other lymphoid tissues in congenital agammaglobulinemia. I. Thymic alymphoplasia and lymphocytic hypoplasia and their relation to infection.&lt;/strong&gt; Pediatrics 32: 517-530, 1963.">Gitlin and Craig
(1963)</a>; <a href="#Janeway1953" class="mim-tip-reference" title="Janeway, C. A., Apt, L., Gitlin, D. &lt;strong&gt;Agammaglobulinemia.&lt;/strong&gt; Trans. Assoc. Am. Phys. 66: 200-202, 1953.">Janeway et al. (1953)</a>; <a href="#Perryman1983" class="mim-tip-reference" title="Perryman, L. E., McGuire, T. C., Banks, K. L. &lt;strong&gt;Infantile X-linked agammaglobulinemia: agammaglobulinemia in horses.&lt;/strong&gt; Am. J. Path. 111: 125-127, 1983.">Perryman et al. (1983)</a>; <a href="#Saulsbury1979" class="mim-tip-reference" title="Saulsbury, F. T., Bernstein, M. T., Winkelstein, J. A. &lt;strong&gt;Pneumocystis carinii pneumonia as the presenting infection in congenital hypogammaglobulinemia.&lt;/strong&gt; J. Pediat. 95: 559-561, 1979.">Saulsbury et
al. (1979)</a>; <a href="#Schwaber1988" class="mim-tip-reference" title="Schwaber, J., Payne, J., Chen, R. &lt;strong&gt;B lymphocytes from X-linked agammaglobulinemia: delayed expression of light chain and demonstration of lyonization in carriers.&lt;/strong&gt; J. Clin. Invest. 81: 514-522, 1988.">Schwaber et al. (1988)</a>; <a href="#Thompson1980" class="mim-tip-reference" title="Thompson, L. F., Boss, G. R., Spiegelberg, H. L., Bianchino, A., Seegmiller, J. E. &lt;strong&gt;Ecto-5&#x27;-nucleotidase activity in lymphoblastoid cell lines derived from heterozygotes for congenital X-linked agammaglobulinemia.&lt;/strong&gt; J. Immun. 125: 190-193, 1980.">Thompson et al. (1980)</a>
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<a id="references"class="mim-anchor"></a>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Allen1994" class="mim-anchor"></a>
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<p class="mim-text-font">
Allen, R. C., Nachtman, R. G., Rosenblatt, H. M., Belmont, J. W.
<strong>Application of carrier testing to genetic counseling for X-linked agammaglobulinemia.</strong>
Am. J. Hum. Genet. 54: 25-35, 1994.
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<a id="Ament1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ament, M. E., Ochs, H. D., Davis, S. D.
<strong>Structure and function of the gastrointestinal tract in primary immunodeficiency syndromes: a study of 39 patients.</strong>
Medicine 52: 227-248, 1973.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20407413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20407413</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20407413" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/00005792-197305000-00004" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
<a id="Bruton1952" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bruton, O. C.
<strong>Agammaglobulinemia.</strong>
Pediatrics 9: 722-727, 1952.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14929630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14929630</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14929630" 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="4" class="mim-anchor"></a>
<a id="Buckle1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Buckle, V. J., Edwards, J. H., Evans, E. P., Jonasson, J. A., Lyon, M. F., Peters, J., Searle, A. G.
<strong>Comparative maps of human and mouse X chromosomes. (Abstract)</strong>
Cytogenet. Cell Genet. 40: 594-595, 1985.
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<a id="Cohen1985" class="mim-anchor"></a>
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Cohen, D. I., Hedrick, S. M., Nielsen, E. A., D'Eustachio, P., Ruddle, F., Steinberg, A. D., Paul, W. E., Davis, M. M.
<strong>Isolation of a cDNA clone corresponding to an X-linked gene family (XLR) closely linked to the murine immunodeficiency disorder xid.</strong>
Nature 314: 369-372, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2984575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2984575</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2984575" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/314369a0" target="_blank">Full Text</a>]
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<a id="Conley1986" class="mim-anchor"></a>
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Conley, M. E., Brown, P., Pickard, A. R., Buckley, R. H., Miller, D. S., Raskind, W. H., Singer, J. W., Fialkow, P. J.
<strong>Expression of the gene defect in X-linked agammaglobulinemia.</strong>
New Eng. J. Med. 315: 564-567, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3488506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3488506</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3488506" 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/NEJM198608283150907" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
<a id="Edwards1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Edwards, N. L., Magilavy, D. B., Cassidy, J. T., Fox, I. H.
<strong>Lymphocyte ecto-5-prime-nucleotidase deficiency in agammaglobulinemia.</strong>
Science 201: 628-630, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27864</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27864" 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.27864" target="_blank">Full Text</a>]
</p>
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<a id="8" class="mim-anchor"></a>
<a id="Erlendsson1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Erlendsson, K., Swartz, T., Dwyer, J. M.
<strong>Successful reversal of echovirus encephalitis in X-linked hypogammaglobulinemia by intraventricular administration of immunoglobulin.</strong>
New Eng. J. Med. 312: 351-353, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4038544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4038544</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4038544" 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/NEJM198502073120605" target="_blank">Full Text</a>]
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<a id="Fearon1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fearon, E. R., Winkelstein, J. A., Civin, C. I., Pardoll, D. M., Vogelstein, B.
<strong>Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation.</strong>
New Eng. J. Med. 316: 427-431, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2880293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2880293</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2880293" 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/NEJM198702193160802" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
<a id="Ferrari2007" class="mim-anchor"></a>
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<p class="mim-text-font">
Ferrari, S., Lougaris, V., Caraffi, S., Zuntini, R., Yang, J., Soresina, A., Meini, A., Cazzola, G., Rossi, C., Reth, M., Plebani, A.
<strong>Mutations of the Ig-beta gene cause agammaglobulinemia in man.</strong>
J. Exp. Med. 204: 2047-2051, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17709424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17709424</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17709424[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=17709424" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1084/jem.20070264" target="_blank">Full Text</a>]
</p>
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<a id="11" class="mim-anchor"></a>
<a id="Garvie1961" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Garvie, J. M., Kendall, A. C.
<strong>Congenital agammaglobulinaemia: report of two further cases.</strong>
Brit. Med. J. 1: 548-550, 1961.
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[<a href="https://doi.org/10.1136/bmj.1.5225.548" target="_blank">Full Text</a>]
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Geha, R. S., Rosen, F. S., Merler, E.
<strong>Identification and characterization of subpopulations of lymphocytes in human peripheral blood after fractionation on discontinuous gradients of albumin: the cellular defect in X-linked agammaglobulinemia.</strong>
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[<a href="https://doi.org/10.1172/JCI107354" target="_blank">Full Text</a>]
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Gitlin, D., Craig, J. M.
<strong>The thymus and other lymphoid tissues in congenital agammaglobulinemia. I. Thymic alymphoplasia and lymphocytic hypoplasia and their relation to infection.</strong>
Pediatrics 32: 517-530, 1963.
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Guioli, S., Arveiler, B., Bardoni, B., Notarangelo, L. D., Panina, P., Duse, M., Ugazio, A., Oberle, I., de Saint Basile, G., Mandel, J. L., Camerino, G.
<strong>Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia.</strong>
Hum. Genet. 84: 19-21, 1989.
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[<a href="https://doi.org/10.1007/BF00210664" target="_blank">Full Text</a>]
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<a id="Hendriks1989" class="mim-anchor"></a>
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Hendriks, R. W., Mensink, E. J. B. M., Kraakman, M. E. M., Thompson, A., Schuurman, R. K. B.
<strong>Evidence for male X chromosomal mosaicism in X-linked agammaglobulinemia.</strong>
Hum. Genet. 83: 267-270, 1989.
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[<a href="https://doi.org/10.1007/BF00285169" target="_blank">Full Text</a>]
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Hitzig, W. H., Willi, H.
<strong>Hereditary lymphoplasmocytic dysgenesis ('alymphocytose mit agammaglobulinamia').</strong>
Schweiz. Med. Wschr. 91: 1625-1633, 1961.
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<strong>Agammaglobulinemia.</strong>
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Janeway, C. A., Gitlin, D., Craig, J. M., Grice, D. C.
<strong>'Collagen disease' in patients with congenital agammaglobulinemia.</strong>
Trans. Assoc. Am. Phys. 69: 93-97, 1956.
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Journet, O., Durandy, A., Doussau, M., Le Deist, F., Couvreur, J., Griscelli, C., Fischer, A., de Saint-Basile, G.
<strong>Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia.</strong>
Am. J. Med. Genet. 43: 885-887, 1992.
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[<a href="https://doi.org/10.1002/ajmg.1320430527" target="_blank">Full Text</a>]
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Kerstens, P. J. S. M., Endtz, H. P., Meis, J. F. G. M., Oyen, W. J. G., Koopman, R. J. I., van den Broek, P. J., van der Meer, J. W. M.
<strong>Erysipelas-like skin lesions associated with Campylobacter jejuni septicemia in patients with hypogammaglobulinemia.</strong>
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[<a href="https://doi.org/10.1007/BF01960888" target="_blank">Full Text</a>]
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Kornfeld, S. J., Kratz, J., Haire, R. N., Litman, G. W., Good, R. A.
<strong>X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy.</strong>
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[<a href="https://doi.org/10.1016/s0091-6749(95)70138-9" target="_blank">Full Text</a>]
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Kwan, S.-P., Kunkel, L., Bruns, G., Wedgwood, R. J., Latt, S., Rosen, F. S.
<strong>Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism.</strong>
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[<a href="https://doi.org/10.1172/JCI112351" target="_blank">Full Text</a>]
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Kwan, S.-P., Terwilliger, J., Parmley, R., Raghu, G., Sandkuyl, L. A., Ott, J., Ochs, H., Wedgwood, R., Rosen, F.
<strong>Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus.</strong>
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[<a href="https://doi.org/10.1016/0888-7543(90)90562-9" target="_blank">Full Text</a>]
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Landreth, K. S., Engelhard, D., Anasetti, C., Kapoor, N., Kincade, P. W., Good, R. A.
<strong>Pre-B cells in agammaglobulinemia: evidence for disease heterogeneity among affected boys.</strong>
J. Clin. Immun. 5: 84-89, 1985.
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[<a href="https://doi.org/10.1007/BF00915005" target="_blank">Full Text</a>]
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Lau, Y. L., Levinsky, R. J., Malcolm, S., Goodship, J., Winter, R., Pembrey, M.
<strong>Genetic prediction in X-linked agammaglobulinaemia.</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320310224" target="_blank">Full Text</a>]
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Lederman, H. M., Winkelstein, J. A.
<strong>X-linked agammaglobulinemia: an analysis of 96 patients.</strong>
Medicine 64: 145-156, 1985.
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Levitt, D., Ochs, H., Wedgwood, R. J.
<strong>Epstein-Barr virus-induced lymphoblastoid cell lines derived from the peripheral blood of patients with X-linked agammaglobulinemia can secrete IgM.</strong>
J. Clin. Immun. 4: 143-150, 1984.
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[<a href="https://doi.org/10.1007/BF00915048" target="_blank">Full Text</a>]
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<a id="Lopez Granados2002" class="mim-anchor"></a>
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Lopez Granados, E., Porpiglia, A. S., Hogan, M. B., Matamoros, N., Krasovec, S., Pignata, C., Smith, C. I. E., Hammarstrom, L., Bjorkander, J., Belohradsky, B. H., Casariego, G. F., Garcia Rodriguez, M. C., Conley, M. E.
<strong>Clinical and molecular analysis of patients with defects in mu heavy chain gene.</strong>
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[<a href="https://doi.org/10.1172/JCI15658" target="_blank">Full Text</a>]
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Malcolm, S., de Saint Basile, G., Arveiler, B., Lau, Y. L., Szabo, P., Fischer, A., Griscelli, C., Debre, M., Mandel, J. L., Callard, R. E., Robertson, M. E., Goodship, J. A., Pembrey, M. E., Levinsky, R. J.
<strong>Close linkage of random DNA fragments from Xq21.3-22 to X-linked agammaglobulinaemia (XLA).</strong>
Hum. Genet. 77: 172-174, 1987.
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[<a href="https://doi.org/10.1007/BF00272387" target="_blank">Full Text</a>]
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Malcolm, S., Goodship, J., Read, A. P., Donnai, D., Levinsky, R. J.
<strong>Linkage of Bruton's agammaglobulinemia (IMD1) to probes in Xq21.3-22: evidence for a second gene coding for X linked agammaglobulinemia. (Abstract)</strong>
Cytogenet. Cell Genet. 51: 1038, 1989.
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McKinney, R. E., Jr., Katz, S. L., Wilfert, C. M.
<strong>Chronic enteroviral meningoencephalitis in agammaglobulinemic patients.</strong>
Rev. Infect. Dis. 9: 334-356, 1987.
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[<a href="https://doi.org/10.1093/clinids/9.2.334" target="_blank">Full Text</a>]
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Mease, P. J., Ochs, H. D., Wedgwood, R. J.
<strong>Successful treatment of echovirus meningoencephalitis and myositis-fasciitis with intravenous immune globulin therapy in a patient with X-linked agammaglobulinemia.</strong>
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[<a href="https://doi.org/10.1056/NEJM198105213042107" target="_blank">Full Text</a>]
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Melamed, I., Bujanover, Y., Igra, Y. S., Schwartz, D., Zakuth, V., Spirer, Z.
<strong>Campylobacter enteritis in normal and immunodeficient children.</strong>
Am. J. Dis. Child. 137: 752-753, 1983.
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[<a href="https://doi.org/10.1001/archpedi.1983.02140340036009" target="_blank">Full Text</a>]
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<div class="">
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Mensink, E. J. B. M., Schot, J. D. L., Tippett, P., Ott, J., Schuurman, R. K. B.
<strong>X-linked agammaglobulinemia and the red blood cell determinants Xg and 12E7 are not closely linked.</strong>
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[<a href="https://doi.org/10.1007/BF00292589" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00282549" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI113754" target="_blank">Full Text</a>]
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<a id="59" class="mim-anchor"></a>
<a id="Vetrie1993" class="mim-anchor"></a>
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Vetrie, D., Vorechovsky, I., Sideras, P., Holland, J., Davies, A., Flinter, F., Hammarstrom, L., Kinnon, C., Levinsky, R., Bobrow, M., Smith, C. I. E., Bentley, D. R.
<strong>The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.</strong>
Nature 361: 226-233, 1993. Note: Erratum: Nature 364: 362 only, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8380905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8380905</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8380905" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/361226a0" target="_blank">Full Text</a>]
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<a id="Wood2001" class="mim-anchor"></a>
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Wood, P. M. D., Mayne, A., Joyce, H., Smith, C. I. E., Granoff, D. M., Kumararatne, D. S.
<strong>A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency.</strong>
J. Pediat. 139: 148-151, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11445810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11445810</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11445810" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1067/mpd.2001.115970" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 7/29/2010
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Matthew B. Gross : 12/18/2008
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carol : 05/31/2024
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carol : 05/30/2024<br>carol : 02/22/2022<br>carol : 06/06/2019<br>alopez : 04/22/2019<br>ckniffin : 04/18/2019<br>carol : 07/09/2016<br>terry : 10/3/2012<br>carol : 1/31/2011<br>carol : 8/3/2010<br>ckniffin : 7/29/2010<br>terry : 5/12/2010<br>carol : 8/28/2009<br>mgross : 12/19/2008<br>mgross : 12/18/2008
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<strong>#</strong> 300755
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AGAMMAGLOBULINEMIA, X-LINKED; XLA
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<em>Alternative titles; symbols</em>
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BRUTON-TYPE AGAMMAGLOBULINEMIA<br />
AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1; AGMX1<br />
IMMUNODEFICIENCY 1; IMD1
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Other entities represented in this entry:
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HYPOGAMMAGLOBULINEMIA, X-LINKED, INCLUDED
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<strong>SNOMEDCT:</strong> 65880007; &nbsp;
<strong>ORPHA:</strong> 229717, 47; &nbsp;
<strong>DO:</strong> 14179; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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Xq22.1
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Agammaglobulinemia, X-linked 1
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300755
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X-linked recessive
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3
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BTK
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300300
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because X-linked agammaglobulinemia/hypogammaglobulinemia (XLA) is caused by mutation in the gene encoding Bruton tyrosine kinase (BTK; 300300) on chromosome Xq22.</p>
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<strong>Description</strong>
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<p>X-linked agammaglobulinemia is an immunodeficiency characterized by failure to produce mature B lymphocytes and associated with a failure of Ig heavy chain rearrangement. The defect in this disorder resides in BTK, also known as BPK or ATK, a key regulator in B-cell development (Rawlings and Witte, 1994). The X-linked form accounts for approximately 85 to 90% of cases of the disorder. Also see 300310. The remaining 15% of cases constitute a heterogeneous group of autosomal disorders (Lopez Granados et al., 2002; Ferrari et al., 2007). </p><p><strong><em>Genetic Heterogeneity of Agammaglobulinemia/Hypogammaglobulinemia</em></strong></p><p>
A form of X-linked hypogammaglobulinemia (IMD61; 300310) is caused by mutation in the SH3KBP1 gene (300374) on chromosome Xq22.</p><p>See agammaglobulinemia-1 (AGM1; 601495) for a discussion of genetic heterogeneity of autosomal forms of agammaglobulinemia.</p>
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<strong>Clinical Features</strong>
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<p>X-linked agammaglobulinemia, the first genetic immunodeficiency to be specifically identified, was described by Bruton (1952). Patients are unusually prone to bacterial infection but not to viral infection. A clinical picture resembling rheumatoid arthritis develops in many. Before antibiotics, death occurred in the first decade. In the more usual X-linked form of the disease, plasma cells are lacking. A rarer form of agammaglobulinemia (Hitzig and Willi, 1961), which is inherited as an autosomal recessive (601457), shows marked depression of the circulating lymphocytes, and lymphocytes are absent from the lymphoid tissue. The alymphocytotic type (also see 300400) is even more virulent than the Bruton form, leading to death in the first 18 months after birth from severe thrush, chronic diarrhea, and recurrent pulmonary infections. </p><p>Seligmann et al. (1968) proposed a classification of immunologic deficiencies. Ament et al. (1973) pointed out that gastrointestinal infestation with Giardia lamblia is frequent in this and other forms of immunodeficiency. Infection with Campylobacter jejuni and Salmonella spp is also frequent (Melamed et al., 1983). Giardiasis may lead to malabsorption, while C. jejuni infection may result in recurrent fever (van der Meer et al., 1986; Kerstens et al., 1992). </p><p>Geha et al. (1973) showed that males with proven X-linked agammaglobulinemias lacked bone marrow-derived (B) lymphocytes from the circulating blood, whereas progenitor and thymus (T) cells were normal. See 301000 and 308230 for other X-linked deficiencies of immunoglobulins. </p><p>Although patients have recurrent bacterial infections, they generally have a normal response to viral infection, presumably because cell-mediated immunity is intact. A notable exception is the usually fatal echovirus-induced meningoencephalitis, which is often associated with the 'dermatomyositis-like' syndrome first described by Janeway et al. (1956). Mease et al. (1981) successfully treated a 32-year-old man who developed signs of myopathy and encephalopathy over a period of 3 months. Echo 11 virus was recovered from muscle and spinal fluid. In vitro lymphocyte transformation was temporarily markedly depressed by the infection. High doses of immune globulin given intravenously cured the man of this usually fatal complication. </p><p>Rosen et al. (1984) reviewed primary immunodeficiencies, giving a classification according to whether the immunodeficiency was predominantly one of antibody formation, was predominantly one of cell-mediated immunity, or was associated with other defects as in ataxia-telangiectasia. </p><p>Lederman and Winkelstein (1985) collected data from 96 patients cared for in 26 North American medical centers and representing a total experience of almost 1,200 patient-years. </p><p>Boys with agammaglobulinemia lack circulating B cells. Landreth et al. (1985) described 4 boys with agammaglobulinemia who lacked pre-B lymphocytes. In classic agammaglobulinemia, pre-B cells are present in normal numbers in the bone marrow but appear to be either blocked or aborted in their ability to mature, express surface immunoglobulins, or produce antibody. In the boys who lacked pre-B cells, clinical presentation with recurrent infections was delayed until the second or third year. None of the 4 boys had a history of recurrent infection or similar disease in maternal first cousins or uncles. Two of the patients were brothers. The mode of inheritance is unclear. The immune defect resembled that of the thymoma-agammaglobulinemia syndrome, but thymoma was not present in any of the 4. </p><p>Thorsteinsson et al. (1990) described studies in 3 brothers with IMD1, the first of whom was diagnosed in 1963 at the age of 9 years and died at the age of 23. </p><p>Van der Meer et al. (1993) reported the cases of 3 unrelated men with XLA who developed colorectal cancer at the ages of 26, 29, and 36 years. Van der Meer et al. (1993) suggested that there is an increased risk of colorectal cancer in these individuals and that it may be related to intestinal infections. </p><p>Ochs and Smith (1996) provided a comprehensive review of the clinical and molecular aspects of X-linked agammaglobulinemia. </p><p>Smith and Witte (1999) provided a comprehensive review of XLA. XLA is characterized by an increased susceptibility mainly to extracellular bacterial infections; however, enteroviral infections frequently run a severe course and often resist therapy (Lederman and Winkelstein, 1985; McKinney et al., 1987; Ochs and Smith, 1996). Rudge et al. (1996) described a patient with XLA who had an enteroviral infection, presumably contracted at 8 years of age. Autopsy performed at 17 years of age, after several years of progressive dementia, showed severe thinning of the cerebral cortex, reduced subcortical and deep white matter, and marked dilatation of the lateral ventricles. </p><p>Wood et al. (2001) described a 25-year-old man with a selective antipolysaccharide antibody deficiency who was found to have a previously described mutation (300300.0005) in the BTK gene. From the age of 23 years, his IgG level had fallen slightly below the normal range, but he had remained well on antibiotic prophylaxis for 12 years. The authors suggested that male patients with antipolysaccharide antibody deficiency should be evaluated for B-cell lymphopenia and Btk mutations. </p>
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<strong>Biochemical Features</strong>
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<p>Edwards et al. (1978) showed reduced ecto-5-prime-nucleotidase (129190) activity in peripheral blood lymphocytes. This is an ectoenzyme that regulates the uptake of AMP into lymphocytes by converting the nontransportable nucleotide to its readily transported nucleoside, adenosine. </p>
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<strong>Inheritance</strong>
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<p>Lau et al. (1988) discussed the calculation of genetic risks in XLA, including allowance for nonallelic genetic heterogeneity. </p><p>Hendriks et al. (1989) described a family in which each of 2 sisters had a son with XLA. The 2 sisters with affected sons and another sister all showed exclusive inactivation of the paternal X chromosome in B lymphocytes, indicating that the gene for XLA came from their father, who, however, had no agammaglobulinemia. He was presumed to be an X chromosomal mosaic. RFLP segregation analyses in other XLA pedigrees suggested that this may be a frequent situation. </p><p>Sakamoto et al. (2001) suggested maternal germinal mosaicism to explain the finding of 2 sibs with XLA who had a single base deletion (563C) in exon 6 of the BTK gene and whose mother had no evidence of the mutation. Cytoplasmic expression of BTK protein in monocytes was not detected in either patient; normal cytoplasmic expression of BTK protein was found in monocytes of the mother. </p>
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<strong>Mapping</strong>
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<p>Race and Sanger (1975) thought that the agammaglobulinemia locus was possibly linked to Xg; the lod scores were positive but low at a recombination fraction of 30%.</p><p>In 12 families, including an extensively affected Dutch kindred of 8 generations, Mensink et al. (1984) studied linkage with Xg (314700) and the 12E7 polymorphism that is closely linked to Xg. They concluded that XLA and Xg are at least 20 cM apart. Cohen et al. (1985) isolated a cDNA probe recognizing a family of genes, called Xlr (see 300113), on the mouse X chromosome, at least some members of which are closely linked to the xid trait. In accompanying studies, Cohen et al. (1985) presented data which, combined with the RFLP analysis closely linking the Xlr gene family to the xid mutation, suggest that the xid defect resides in a member of this family. From a study of the comparative mapping of the human and mouse X chromosomes, Buckle et al. (1985) predicted that the XLA locus of man may be on Xq between PGK1 (311800) and GLA (300644), i.e., in the segment Xq13-Xq22. This remarkable prediction was borne out by the findings of Kwan et al. (1986). </p><p>By RFLP studies in 11 families, they showed that XLA is linked to 2 markers, DXS3 and DXS17, both localized in region Xq21.3-q22 (lod = 3.65 at theta = 0.04 and lod = 2.17 at theta = 0.0, respectively). In a single 8-generation Dutch kindred, Mensink et al. (1986) found a maximum lod score of 3.30 at a recombination fraction of 0.06 for linkage of XLA and marker p19-2 (DXS3). In another pedigree, similar linkage to DXS3 was excluded (lod = -3.14 at theta 0.06). This suggested the existence of a second form of X-linked agammaglobulinemia; data obtained by Mensink et al. (1986) from all pedigrees suggested localization of a second XLA gene in the Xp22 band as defined by marker p99-6 (DXS41); see 300310. This is a possible parallel to the historic demonstration of heterogeneity in elliptocytosis (611804) by the linkage principle. Mensink et al. (1986) predicted that more detailed molecular studies 'will ultimately reveal phenotypic differences, reflecting different XLA gene loci, one of them probably coding for a recombinase involved in immunoglobulin heavy-chain rearrangements (Schwaber et al., 1983) and the other(s) being involved in later stages of precursor B cell differentiation (Levitt et al., 1984). 'With a multipoint linkage analysis in 9 families with XLA, Ott et al. (1986) concluded that there was 'clear evidence for heterogeneity of XLA.' The finding of possible linkage to Xg by Race and Sanger (1975) may have been related to their having a mixture of 'Xp' and 'Xq' families. Malcolm et al. (1989) presented further evidence, based on linkage data, for the existence of 2 loci. </p><p>Mensink et al. (1987) mapped XLA to Xq21.3-q22. No recombination was found between XLA and DXS17 (lod = greater than 6 at theta = 0); no recombinants were found between XLA and DXS17 in this study or in the study by Kwan et al. (1986)--with the exception of the remarkable Z pedigree which may have carried a different form of agammaglobulinemia. Malcolm et al. (1987) demonstrated close linkage to DNA markers in the Xq21.3-q22 region in studies of 15 families. Guioli et al. (1989) found close linkage of IMD1 and DXS178. No recombinants were observed, giving a maximum lod score of 5.92 at theta = 0. Kwan et al. (1990) demonstrated another marker closely linked to XLA, DXS178. </p>
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<strong>Diagnosis</strong>
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<p>Fearon et al. (1987) used a strategy similar to that of Conley et al. (1986) to show that the defect in XLA is intrinsic to B cells as well as to detect the carrier state. According to their strategy, recombinant DNA probes simultaneously detect RFLPs and patterns of methylation of X-chromosome genes. (Different DNA methylation patterns reflect whether the X chromosome is active or inactive and these differences in methylation can be monitored by restriction endonucleases that have the capacity to recognize methylated cytosine residues.) Random X-inactivation patterns were observed in isolated peripheral blood granulocytes, T lymphocytes, and B lymphocytes of women who were not carriers. In contrast, 1 of the 2 X chromosomes was preferentially active in the B cells, but not the T cells or granulocytes, of 3 carriers of the disorder. Fearon et al. (1987) used X-chromosome inactivation analysis to demonstrate that the X chromosome with the wildtype allele at the agammaglobulinemia locus was the active one in all the B cells. Allen et al. (1994) tested carrier status by study of B lymphocytes and T lymphocytes separated by means of antibodies to the B-cell specific antigen CD19 (107265). B lymphocytes were isolated from the mononuclear cell fraction of 20 cc of blood by using anti-CD19 immunomagnetic beads. Quantitative PCR at the androgen-receptor locus was then used to examine patterns of X inactivation in CD19-positive B cells. The trinucleotide repeat at the androgen receptor locus (AR; 313700) is within approximately 100 bp of 2 HpaII restriction-enzyme sites that are methylated on the inactive X chromosome but unmethylated on the active X chromosome. Obligate carriers of XLA demonstrated more than 95% skewing of X inactivation in CD19-positive cells but not in CD19-negative cells. Allen et al. (1994) suggested that refinements in techniques for primary carrier testing and genetic mapping of XLA make possible an ordered approach to prenatal diagnosis and genetic counseling. </p><p>Schuurman et al. (1988) demonstrated the usefulness of linked RFLP markers in identifying the carrier state and in the early diagnosis of XLA in a newborn son. </p><p>Journet et al. (1992) demonstrated that the pregnant mother of a boy with XLA but no family history of immune disease was a carrier by demonstrating with a methylation-sensitive probe that the X-inactivation pattern was skewed in the woman's B cells but random in her polymorphonuclear cells. Using RFLP probes flanking the XLA locus on each side, they excluded the diagnosis of XLA in the fetus on the basis of a chorionic villus sample (risk of error less than 0.003). Subsequent studies of the baby confirmed normality. </p>
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<strong>Pathogenesis</strong>
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<p>Pearl et al. (1978) showed that precursor B lymphocytes containing IgM heavy chains can be demonstrated in the bone marrow in XLA. This suggested that an arrest in the differentiation of precursor B lymphocytes into B lymphocytes may be involved. Schwaber et al. (1983) found that about 5% of normal pre-B cells and 100% of XLA pre-B cells produce incomplete mu chains (147020), i.e., C(mu) polypeptide without associated V(H). Thus, XLA represents a block in differentiation secondary to failure to express V(H) genes. (Cytoplasmic mu-chain protein has served as a marker for pre-B cells. Mu-chain gene expression precedes rearrangement and expression of light-chain genes.) Presumably the X chromosome codes for enzyme(s) specific for translocation of V(H) genes or a regulatory mechanism necessary for pre-B cells to differentiate to a stage using these enzymes. </p><p>In 2 sisters heterozygous for both XLA and G6PD A-/B polymorphism, Conley et al. (1986) found that B cells showed activity of only the A- form of G6PD, whereas T cells and neutrophils had about equal amounts of A- and B enzyme activity. This indicates that the basic defect in XLA is intrinsic to the B cell. </p><p>Schwaber et al. (1988) found an unusual phenotype of B cells in a patient with XLA, and cellular evidence for lyonization of B cells from the mother and sister. The patient had a failure of B-cell maturation at the stage of early B lymphocytes, associated with production of truncated mu and delta heavy chains composed of D-J(H)-C resulting from abortive rearrangement of variable region genes. There was also delayed expression of L chains. Peripheral blood and B-cell lines from the patient's mother and sister included 50% cells that expressed H chain without L chain. B-cell lines from the mother and sister produced both full-length mu and gamma H chains and truncated mu and delta chains corresponding to the H chains produced by the patient's B cells. Schwaber and Chen (1988) concluded that failure of variable region gene rearrangement may underlie the failure of B lymphoid development in XLA. They observed that immature B cells from a patient produced truncated mu and delta immunoglobulin H chains. In cases of XLA there is variability in the stage at which the arrest of development occurs; the major phenotype is arrested at the stage of pre-B cells, while a minor phenotype is arrested at the stage of immature B lymphocytes. The failure of B lymphoid development is associated in both phenotypes with a failure of Ig heavy chain variable region rearrangement. The immature B cells of a patient with the minor phenotype of XLA produce truncated gamma and delta heavy chains composed of a D-J-constant complex resulting from failure to rearrange a V segment. Schwaber et al. (1988) demonstrated that the fusion of these cells with mouse myeloma complemented the failure of V(H) gene rearrangement. H chains produced by such hybrid cells are composed of V(H)-D-J(H)-C. The genes encoding each of these elements were of human parental origin, indicating that the mouse myeloma provided a trans-acting regulatory element necessary for V(H) rearrangement which the XLA B cells lack. Complementation occurred in all hybrid cells examined, regardless of whether the human X chromosome was retained. </p><p>Schwaber (1992) presented direct evidence that there is a failure of V(D)J recombination which causes arrest in the transition from pre-B cell to B lymphocyte. He pointed out that the arrest in B-cell development is not absolute: rare B lymphocytes have been identified in peripheral blood of some patients, and B-cell lines have been established from these cells by Epstein-Barr virus transformation. Leakiness of the mutation would not be inconsistent with the proposed mechanism. </p>
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<strong>Molecular Genetics</strong>
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<p><strong><em>X-Linked Agammaglobulinemia</em></strong></p><p>
Using probes derived for the Southern analysis of DNA from 33 unrelated families and 150 normal X chromosomes, Vetrie et al. (1993) detected restriction pattern abnormalities in 8 families. Five of them had deletions that were shown to be entirely intragenic to BTK, confirming involvement of BTK in XLA. Two single-base missense mutations (300300.0001 and 300300.0002) were identified in XLA patients. The failure of pre-B cells in the bone marrow of XLA males to develop into mature, circulating B cells could be the result of the product of the mutant ATK gene failing to fulfill its role in B-cell signaling. </p><p>For further information on the molecular genetics of XLA, see 300300.</p><p><strong><em>X-Linked Hypogammaglobulinemia</em></strong></p><p>
Kornfeld et al. (1995) described the case of a 16-year-old boy who had recurrent upper respiratory tract infections at 13 months of age and was diagnosed as having transient hypogammaglobulinemia of infancy on the basis of low immunoglobulin levels, normal diphtheria and tetanus antibody responses, normal anterior and posterior cervical nodes, normal tonsillar tissue, and normal numbers of B cells in the blood. IgA levels returned to normal at 15 months of age and remained within normal limits over the next 12 months, and IgG and IgM levels remained relatively unchanged. At age 10, he began receiving intravenous gammaglobulin, which resulted in cessation of infections. The clinical picture was thought to be that of common variable immunodeficiency disease. However, gene studies revealed the deletion of exon 16 of the BTK gene resulting from a splice junction defect. The patient represents an example of the extreme variation that can occur in the XLA phenotype. </p>
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<strong>Animal Model</strong>
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<p>For information on animal models of XLA, including the X-linked immunodeficiency (xid) mouse mutation, see 300300.</p>
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<strong>See Also:</strong>
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Erlendsson et al. (1985); Garvie and Kendall (1961); Gitlin and Craig
(1963); Janeway et al. (1953); Perryman et al. (1983); Saulsbury et
al. (1979); Schwaber et al. (1988); Thompson et al. (1980)
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<li>
<p class="mim-text-font">
Vetrie, D., Vorechovsky, I., Sideras, P., Holland, J., Davies, A., Flinter, F., Hammarstrom, L., Kinnon, C., Levinsky, R., Bobrow, M., Smith, C. I. E., Bentley, D. R.
<strong>The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.</strong>
Nature 361: 226-233, 1993. Note: Erratum: Nature 364: 362 only, 1993.
[PubMed: 8380905]
[Full Text: https://doi.org/10.1038/361226a0]
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Wood, P. M. D., Mayne, A., Joyce, H., Smith, C. I. E., Granoff, D. M., Kumararatne, D. S.
<strong>A mutation in Bruton&#x27;s tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency.</strong>
J. Pediat. 139: 148-151, 2001.
[PubMed: 11445810]
[Full Text: https://doi.org/10.1067/mpd.2001.115970]
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