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Entry
- #214500 - CHEDIAK-HIGASHI SYNDROME; CHS
- OMIM
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<span class="h4">#214500</span>
<br />
<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/214500"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<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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<a href="#otherFeatures">Other Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#history">History</a>
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<a href="#references"><strong>References</strong></a>
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<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=CHEDIAK-HIGASHI SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=249&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
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</a>
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</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:2935" 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/214500" 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><a href="https://omia.org/results?search_type=advanced&omia_id=000185,002449" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></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="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:214500" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
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</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 111396008<br />
<strong>ICD10CM:</strong> D72.0, E70.330<br />
<strong>ORPHA:</strong> 167<br />
<strong>DO:</strong> 2935<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>
214500
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
CHEDIAK-HIGASHI SYNDROME; CHS
</span>
</h3>
</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/1/1820?start=-3&limit=10&highlight=1820">
1q42.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Chediak-Higashi syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/214500"> 214500 </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">
LYST
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606897"> 606897 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/214500" 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>
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</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/214500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/214500" 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">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</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> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Reduced visual acuity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13164000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span><br /> -
Photophobia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409668002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409668002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246622003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246622003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.14</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span><br /> -
Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
Reduced iris pigmentation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247032003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247032003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0154920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0154920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007730" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007730</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007730" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007730</a>]</span><br /> -
Macular hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849412&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849412</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001104</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001104</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Gingivitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66383009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66383009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K05.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K05.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017574&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017574</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000230" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000230</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000230" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000230</a>]</span><br /> -
Pseudomembranous sloughing of buccal mucosa <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859180&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859180</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">
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br /> -
Jaundice <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18165001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18165001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R17</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2203646&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2203646</a>, <a href="https://bioportal.bioontology.org/search?q=C0022346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022346</a>, <a href="https://bioportal.bioontology.org/search?q=C2010848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2010848</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spleen </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</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">
- Mild/severe skin hypopigmentation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806220&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806220</a>]</span><br /> -
Jaundice <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18165001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18165001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R17</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2203646&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2203646</a>, <a href="https://bioportal.bioontology.org/search?q=C0022346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022346</a>, <a href="https://bioportal.bioontology.org/search?q=C2010848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2010848</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Skin Histology </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Giant melanosomes in melanocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806221&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806221</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005592" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005592</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005592" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005592</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mild hair hypopigmentation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806222&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806222</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005599" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005599</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">
- Muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26544005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26544005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151786&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151786</a>, <a href="https://bioportal.bioontology.org/search?q=C0030552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030552</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span><br /> -
Giant granules in muscle cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806219</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">
- Mental deficiency <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F79" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F79</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0917816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0917816</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Progressive intellectual decline <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859174&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859174</a>]</span><br /> -
Neurodegeneration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027746&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027746</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002180" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002180</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002180" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002180</a>]</span><br /> -
Cranial nerve palsies <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/73013002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">73013002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151311</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006824" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006824</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006824" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006824</a>]</span><br /> -
Decreased deep tendon reflexes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405946002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405946002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span><br /> -
Markedly delayed nerve conduction velocities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859175&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859175</a>]</span><br /> -
Tremor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26079004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26079004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span><br /> -
Abnormal gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22325002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22325002</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span><br /> -
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
Diffuse brain and spinal cord atrophy on brain CT/MRI <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859176&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859176</a>]</span><br /> -
Giant granules in Schwann cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859177&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859177</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Peripheral Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Progressive peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859178&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859178</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007133</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007133</a>]</span><br /> -
Foot drop <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6077001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6077001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/735601009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">735601009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.37" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.37</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2894499&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2894499</a>, <a href="https://bioportal.bioontology.org/search?q=C0085684&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085684</a>, <a href="https://bioportal.bioontology.org/search?q=C1866141&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866141</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009027</a>]</span><br />
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<strong> HEMATOLOGY </strong>
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- Anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271737000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271737000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/285.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">285.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002871</a>, <a href="https://bioportal.bioontology.org/search?q=C1000483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1000483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span><br /> -
Thrombocytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415116008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302215000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302215000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/287.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">287.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392386</a>, <a href="https://bioportal.bioontology.org/search?q=C0040034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span><br /> -
Leukopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/419188005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">419188005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84828003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84828003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.819</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/288.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.50</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/288.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0750394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0750394</a>, <a href="https://bioportal.bioontology.org/search?q=C0023530&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023530</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001882</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001882</a>]</span><br /> -
Giant inclusion bodies present in most granulated cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859188&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859188</a>]</span><br />
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<strong> IMMUNOLOGY </strong>
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- Recurrent cutaneous and systemic pyogenic infections <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859181&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859181</a>]</span><br /> -
Absent natural killer cell cytotoxicity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859182&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859182</a>]</span><br /> -
Normal B cell function <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859183&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859183</a>]</span><br /> -
Decreased neutrophil and monocyte migration and chemotaxis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859184&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859184</a>]</span><br /> -
Lymphadenopathy in late phase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859185&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859185</a>]</span><br /> -
Generalized lymphohistiocytic infiltrates in late phase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859186&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859186</a>]</span><br /> -
Erythrophagocytosis in late phase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859187&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859187</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the lysosomal trafficking regulator gene (CHS1, <a href="/entry/606897#0001">606897.0001</a>)<br />
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<p>A number sign (#) is used with this entry because Chediak-Higashi syndrome (CHS) is caused by homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST; <a href="/entry/606897">606897</a>) on chromosome 1q42.</p>
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<strong>Description</strong>
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<p>Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by hypopigmentation or oculocutaneous albinism with low vision, nystagmus, and photophobia, and severe immunologic deficiency with neutropenia and lack of natural killer cell function. A hallmark of the disorder is giant inclusion bodies in virtually all granulated cells (summary by <a href="#16" class="mim-tip-reference" title="Fukai, K., Oh, J., Karim, M. A., Moore, K. J., Kandil, H. H., Ito, H., Burger, J., Spritz, R. A. &lt;strong&gt;Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).&lt;/strong&gt; Am. J. Hum. Genet. 59: 620-624, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8751863/&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;8751863&lt;/a&gt;]" pmid="8751863">Fukai et al., 1996</a>). The majority of CHS patients eventually develop a lymphoproliferative syndrome, the 'accelerated phase' of the disorder, characterized by generalized lymphohistiocytic infiltrates, fever, jaundice, hepatosplenomegaly, lymphadenopathy, pancytopenia, and bleeding (summary by <a href="#48" class="mim-tip-reference" title="Spritz, R. A. &lt;strong&gt;Multi-organellar disorders of pigmentation: tied up in traffic.&lt;/strong&gt; Clin. Genet. 55: 309-317, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10422800/&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;10422800&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1034/j.1399-0004.1999.550503.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="10422800">Spritz, 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8751863+10422800" 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>Clinical Features</strong>
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<p>The features of Chediak-Higashi syndrome are decreased pigmentation of hair and eyes (partial albinism), photophobia, nystagmus, large eosinophilic, peroxidase-positive inclusion bodies in the myeloblasts and promyelocytes of the bone marrow, neutropenia, abnormal susceptibility to infection, and peculiar malignant lymphoma. Death often occurs before the age of 7 years. <a href="#29" class="mim-tip-reference" title="Kritzler, R. A., Terner, J. Y., Lindenbaum, J., Magidson, J., Williams, R., Preisig, R., Phillips, G. B. &lt;strong&gt;Chediak-Higashi syndrome: cytologic and serum lipid observations in a case and family.&lt;/strong&gt; Am. J. Med. 36: 583-594, 1964.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14142411/&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;14142411&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9343(64)90106-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14142411">Kritzler et al. (1964)</a> found the karyotype normal in a 16-year-old patient. Glycolipid inclusions were described in histiocytes, renal tubular epithelium, and neurons. Heterozygotes were identifiable by the presence of a granular anomaly of the lymphocytes. The patient died of massive gastrointestinal hemorrhage. Leukemia and lymphoma have been observed (<a href="#14" class="mim-tip-reference" title="Efrati, P., Jonas, W. &lt;strong&gt;Chediak&#x27;s anomaly of leukocytes in malignant lymphoma associated with leukemic manifestations: case report with necropsy.&lt;/strong&gt; Blood 13: 1063-1073, 1958.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13584476/&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;13584476&lt;/a&gt;]" pmid="13584476">Efrati and Jonas, 1958</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14142411+13584476" 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="Windhorst, D. B., Zelickson, A. S., Good, R. A. &lt;strong&gt;Chediak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles.&lt;/strong&gt; Science 151: 81-83, 1966.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5908967/&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;5908967&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.151.3706.81&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="5908967">Windhorst et al. (1966)</a> found large lysosomal granules in leukocytes and giant melanosomes in melanocytes. For this reason, <a href="#31" class="mim-tip-reference" title="Leader, R. W., Padgett, G. A., Gorham, J. R. &lt;strong&gt;Hereditary leukomelanopathy (Chediak-Higashi syndrome of man, mink and cattle). In: Gajdusek, D. C.; Gibbs, C. J., Jr.; Alpers, M. (eds.): Slow, Latent and Temperate Virus Infections. Monograph 2.&lt;/strong&gt; Washington: National Institute of Neurological Diseases and Blindness (pub.) 1966. Pp. 393-399."None>Leader et al. (1966)</a> referred to the condition as 'hereditary leukomelanopathy.' <a href="#19" class="mim-tip-reference" title="Hargis, A. M., Prieur, D. J. &lt;strong&gt;Light and electron microscopy of hepatocytes of cats with Chediak-Higashi syndrome.&lt;/strong&gt; Am. J. Med. Genet. 22: 659-668, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4073119/&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;4073119&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320220403&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="4073119">Hargis and Prieur (1985)</a>, who studied CHS in cats, quoted <a href="#58" class="mim-tip-reference" title="White, J. G. &lt;strong&gt;The Chediak-Higashi syndrome: a possible lysosomal disease.&lt;/strong&gt; Blood 28: 143-156, 1966.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5913047/&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;5913047&lt;/a&gt;]" pmid="5913047">White (1966)</a> as providing evidence that many of the enlarged granules in CHS cells are derived from lysosomes. <a href="#43" class="mim-tip-reference" title="Sheramata, W., Kott, H. S., Cyr, D. P. &lt;strong&gt;The Chediak-Higashi-Steinbrinck syndrome.&lt;/strong&gt; Arch. Neurol. 25: 289-294, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5156632/&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;5156632&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1971.00490040015001&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="5156632">Sheramata et al. (1971)</a> described 3 brothers, aged 31, 34 and 38, who had this disorder and a neurologic picture resembling spinocerebellar degeneration. Neutrophils are deficient in chemotactic and bactericidal activities. Microtubular abnormalities have been demonstrated (<a href="#34" class="mim-tip-reference" title="Oliver, J. M., Zurier, R. B. &lt;strong&gt;Correction of characteristic abnormalities of microtubule function and granule morphology in Chediak-Higashi syndrome with cholinergic agonists: studies in vitro in man and in vivo in the beige mouse.&lt;/strong&gt; J. Clin. Invest. 57: 1239-1247, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1262469/&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;1262469&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI108392&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="1262469">Oliver and Zurier, 1976</a>) and ascorbic acid corrects certain functional abnormalities of the cells (<a href="#9" class="mim-tip-reference" title="Boxer, L. A., Watanabe, A. M., Rister, M., Besch, H. R., Jr., Allen, J., Baehner, R. L. &lt;strong&gt;Correction of leukocyte function in Chediak-Higashi syndrome by ascorbate.&lt;/strong&gt; New Eng. J. Med. 295: 1041-1045, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/184391/&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;184391&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM197611042951904&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="184391">Boxer et al., 1976</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5156632+1262469+4073119+5913047+184391+5908967" 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="Siccardi, A. G., Bianchi, E., Calligari, A., Clivio, A., Fortunato, A., Magrini, U., Sacchi, F. &lt;strong&gt;A new familial defect in neutrophil bactericidal activity.&lt;/strong&gt; Helv. Paediat. Acta 33: 401-412, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/711501/&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;711501&lt;/a&gt;]" pmid="711501">Siccardi et al. (1978)</a> described a 4-year-old Italian boy with recurrent infections. Both he and his healthy father had a severe isolated defect in bactericidal activity of circulating neutrophils. The parents of the proband were first cousins once removed. The proband had silvery-blond hair, individual hairs showing silver and blond banding, as well as a slate-gray generalized hyperpigmentation of the skin. Generalized lymph node enlargement and hepatosplenomegaly were present. The boy died at age 4 years and 9 months, following cerebral hemorrhage (probably secondary to thrombocytopenia caused by hypersplenism). No autopsy was performed. Obviously there were similarities to and differences from the Chediak-Higashi syndrome. <a href="#23" class="mim-tip-reference" title="Inoue, R., Kondo, N., Motoyoshi, F., Hori, Y., Orii, T. &lt;strong&gt;Chediak-Higashi syndrome: report of a case with an ovarian tumor.(Letter)&lt;/strong&gt; Clin. Genet. 39: 316-318, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2070553/&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;2070553&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1991.tb03036.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="2070553">Inoue et al. (1991)</a> reported the occurrence of sclerosing stromal tumor of the ovary in a 13-year-old girl with CHS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=711501+2070553" 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="Spritz, R. A. &lt;strong&gt;Chediak-Higashi syndrome. 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. 389-396."None>Spritz (1999)</a> provided a comprehensive review.</p><p><a href="#51" class="mim-tip-reference" title="Tardieu, M., Lacroix, C., Neven, B., Bordigoni, P., de Saint Basile, G., Blanche, S., Fischer, A. &lt;strong&gt;Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome.&lt;/strong&gt; Blood 106: 40-42, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15790783/&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;15790783&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1182/blood-2005-01-0319&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="15790783">Tardieu et al. (2005)</a> reported 3 patients with CHS who underwent successful bone marrow transplantation (BMT) in childhood with sustained mixed chimerism and no subsequent recurrent infections or hemophagocytic syndrome. At the age of 20 to 24 years, each patient developed neurologic symptoms combining difficulty walking, loss of balance, and tremor. Examination revealed cerebellar ataxia and signs of peripheral neuropathy. Electrophysiologic studies showed motor-sensory axonal neuropathy, there was axon loss on peripheral nerve biopsy, and cerebellar atrophy was detected on brain MRI. <a href="#51" class="mim-tip-reference" title="Tardieu, M., Lacroix, C., Neven, B., Bordigoni, P., de Saint Basile, G., Blanche, S., Fischer, A. &lt;strong&gt;Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome.&lt;/strong&gt; Blood 106: 40-42, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15790783/&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;15790783&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1182/blood-2005-01-0319&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="15790783">Tardieu et al. (2005)</a> reviewed the neurologic status of 4 other patients with CHS who had undergone BMT: 1 began having gait abnormality, falls when walking, and decreased cognitive abilities at the age of 21; 3 other patients, aged 17, 14, and 2 years, had borderline low IQ scores but normal neurologic examinations. <a href="#51" class="mim-tip-reference" title="Tardieu, M., Lacroix, C., Neven, B., Bordigoni, P., de Saint Basile, G., Blanche, S., Fischer, A. &lt;strong&gt;Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome.&lt;/strong&gt; Blood 106: 40-42, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15790783/&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;15790783&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1182/blood-2005-01-0319&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="15790783">Tardieu et al. (2005)</a> noted that the neurologic symptoms observed were identical to those in adults with mild CHS who did not undergo BMT, and concluded that the symptoms most likely resulted from steady long-term progression, despite BMT, of the lysosomal defect in neurons and glial cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15790783" 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>Clinical Variability</em></strong></p><p>
<a href="#44" class="mim-tip-reference" title="Shimazaki, H., Honda, J., Naoi, T., Namekawa, M., Nakano, I., Yazaki, M., Nakamura, K., Yoshida, K., Ikeda, S., Ishiura, H., Fukuda, Y., Takahashi, Y., Goto, J., Tsuji, S., Takiyama, Y. &lt;strong&gt;Autosomal- recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.&lt;/strong&gt; J. Neurol. Neurosurg. Psychiat. 85: 1024-1028, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24521565/&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;24521565&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jnnp-2013-306981&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="24521565">Shimazaki et al. (2014)</a> reported 2 brothers, born of consanguineous Japanese parents, who presented with gait abnormalities due to spastic paraplegia, cerebellar ataxia, and peripheral neuropathy at ages 48 and 58 years, respectively. Brain MRI showed cerebellar atrophy. Neither patient had pigmentary abnormalities of the skin or eyes, clinical features of immunodeficiency, or a bleeding tendency. Peripheral blood showed giant granules in granulocytes and reduced NK cell activity. Linkage analysis combined with exome sequencing identified a homozygous missense mutation in the LYST gene (c.4189T-G, F1397V); functional studies of the variant were not performed. The report expanded the phenotypic spectrum of CHS to include a late-onset, slowly progressive, mainly neurologic disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24521565" 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>In a girl with Chediak-Higashi syndrome, <a href="#2" class="mim-tip-reference" title="Aslan, Y., Erduran, E., Gedik, Y., Mocan, H., Yildiran, A. &lt;strong&gt;The role of high dose methylprednisolone and splenectomy in the accelerated phase of Chediak-Higashi syndrome.&lt;/strong&gt; Acta Haemat. 96: 105-107, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8701696/&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;8701696&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000203725&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="8701696">Aslan et al. (1996)</a> reported on the temporary success (11 months) of high-dose methylprednisolone during the 'accelerated phase' of her condition after unsuccessful treatment with vincristine, prednisolone, ascorbic acid, and antibiotics (ceftriaxone, netilmicin, and co-trimoxazole). After a second trial of high-dose methylprednisolone was unsuccessful, splenectomy continued the child's survival for an additional 29 months. The patient died of neutropenic septicemia. Atypically, this child had pulmonary involvement and no evidence of lymphohistiocytic infiltration in the rectum and sigmoid colon with biopsy proven intestinal polyposis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8701696" 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="#48" class="mim-tip-reference" title="Spritz, R. A. &lt;strong&gt;Multi-organellar disorders of pigmentation: tied up in traffic.&lt;/strong&gt; Clin. Genet. 55: 309-317, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10422800/&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;10422800&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1034/j.1399-0004.1999.550503.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="10422800">Spritz (1999)</a> stated that management of the so-called accelerated phase of the disorder is quite difficult (<a href="#7" class="mim-tip-reference" title="Bejaoui, M., Veber, F., Girault, D., Gaud, C., Blanche, S., Griscelli, C., Fischer, A. &lt;strong&gt;Phase acceleree de la maladie de Chediak-Higashi.&lt;/strong&gt; Arch. Franc. Pediat. 46: 733-736, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2697195/&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;2697195&lt;/a&gt;]" pmid="2697195">Bejaoui et al., 1989</a>). Most patients ultimately require bone marrow transplantation, without which mean survival is only about 3.1 years, death usually resulting from pyogenic infections or hemorrhage (<a href="#8" class="mim-tip-reference" title="Blume, R. S., Wolff, S. M. &lt;strong&gt;The Chediak-Higashi syndrome: studies in four patients and a review of the literature.&lt;/strong&gt; Medicine 51: 247-280, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5064229/&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;5064229&lt;/a&gt;]" pmid="5064229">Blume and Wolff, 1972</a>). Patients who do not develop an accelerated phase tend to have fewer or no infections, but usually develop progressively debilitating neurologic manifestations (<a href="#33" class="mim-tip-reference" title="Misra, V. P., King, R. H. M., Harding, A. E., Muddle, J. R., Thomas, P. K. &lt;strong&gt;Peripheral neuropathy in the Chediak-Higashi syndrome.&lt;/strong&gt; Acta Neuropath. 81: 354-358, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2058369/&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;2058369&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00305881&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="2058369">Misra et al., 1991</a>; <a href="#53" class="mim-tip-reference" title="Uyama, E., Hirano, T., Ito, K., Nakashima, H., Sugimoto, M., Naito, M., Uchino, M., Ando, M. &lt;strong&gt;Adult Chediak-Higashi syndrome presenting as parkinsonism and dementia.&lt;/strong&gt; Acta Neurol. Scand. 89: 175-183, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8030398/&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;8030398&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1600-0404.1994.tb01657.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="8030398">Uyama et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10422800+5064229+2697195+2058369+8030398" 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="#17" class="mim-tip-reference" title="Ganz, T., Metcalf, J. A., Gallin, J. I., Boxer, L. A., Lehrer, R. I. &lt;strong&gt;Microbicidal/cytotoxic proteins of neutrophils are deficient in two disorders: Chediak-Higashi syndrome and &#x27;specific&#x27; granule deficiency.&lt;/strong&gt; J. Clin. Invest. 82: 552-556, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2841356/&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;2841356&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI113631&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="2841356">Ganz et al. (1988)</a> demonstrated deficiency of cathepsin G (<a href="/entry/116830">116830</a>) and elastase (<a href="/entry/130130">130130</a>) in all 3 patients with CHS whom they studied. Cathepsin G is a constituent of the azurophil granule; defensins, which are also constituents, were normal or only mildly decreased in the CHS patients. Elastase has an ancillary microbicidal/cytotoxic action. In another disorder with frequent and severe bacterial infections, namely, specific granule deficiency (SGD; <a href="/entry/245480">245480</a>), <a href="#17" class="mim-tip-reference" title="Ganz, T., Metcalf, J. A., Gallin, J. I., Boxer, L. A., Lehrer, R. I. &lt;strong&gt;Microbicidal/cytotoxic proteins of neutrophils are deficient in two disorders: Chediak-Higashi syndrome and &#x27;specific&#x27; granule deficiency.&lt;/strong&gt; J. Clin. Invest. 82: 552-556, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2841356/&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;2841356&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI113631&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="2841356">Ganz et al. (1988)</a> found almost complete deficiency of defensins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2841356" 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 cells from patients with the Chediak-Higashi syndrome, <a href="#15" class="mim-tip-reference" title="Faigle, W., Raposo, G., Tenza, D., Pinet, V., Vogt, A. B., Kropshofer, H., Fischer, A., de Saint-Basile, G., Amigorena, S. &lt;strong&gt;Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome.&lt;/strong&gt; J. Cell Biol. 141: 1121-1134, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9606205/&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;9606205&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=9606205[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/10.1083/jcb.141.5.1121&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="9606205">Faigle et al. (1998)</a> found that peptide loading onto major histocompatibility complex class II molecules and antigen presentation were strongly delayed. Results of other studies suggested that the product of the LYST gene (<a href="/entry/606897">606897</a>) is required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9606205" 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>Cytotoxic T-lymphocyte-associated antigen-4 (CTLA4; <a href="/entry/123890">123890</a>) plays a major role in the regulation of T-cell activation. Its membrane expression is highly regulated by endocytosis and trafficking through the secretory lysosome pathway. Chediak-Higashi syndrome is caused by mutations in the lysosomal trafficking regulator gene LYST. It results in defective membrane targeting of the proteins present in secretory lysosomes, and it is associated with a variety of features, including a lymphoproliferative syndrome with hemophagocytosis in the human. 'Beige' mice, the murine equivalent of CHS, present similar characteristics but do not develop the lymphoproliferative syndrome. <a href="#5" class="mim-tip-reference" title="Barrat, F. J., Le Deist, F., Benkerrou, M., Bousso, P., Feldmann, J., Fischer, A., de Saint Basile, G. &lt;strong&gt;Defective CTLA-4 cycling pathway in Chediak-Higashi syndrome: a possible mechanism for deregulation of T lymphocyte activation.&lt;/strong&gt; Proc. Nat. Acad. Sci. 96: 8645-8650, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10411929/&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;10411929&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10411929[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.96.15.8645&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="10411929">Barrat et al. (1999)</a> showed that intracellular trafficking of CTLA4 is impaired in the T cells of CHS patients and results in defective cell surface expression of this molecule. In contrast, little is defective in CTLA4 trafficking in 'beige' mouse T cells, and membrane expression of CTLA4 is normal. They proposed that the defective surface expression of CTLA4 by CHS T cells is involved in the generation of lymphoproliferative disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10411929" 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="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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<p><a href="#13" class="mim-tip-reference" title="Dufourcq-Lagelouse, R., Lambert, N., Duval, M., Viot, G., Vilmer, E., Fischer, A., Prieur, M., de Saint Basile, G. &lt;strong&gt;Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.&lt;/strong&gt; Europ. J. Hum. Genet. 7: 633-637, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10482950/&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;10482950&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5200355&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="10482950">Dufourcq-Lagelouse et al. (1999)</a> reported the case of a unique patient with CHS, who was homozygous for a stop codon in the LYST gene and who had a normal 46,XY karyotype. The mother was found to be a carrier of the mutation, whereas the father had 2 normal LYST alleles. Nonpaternity was excluded by analysis of microsatellite markers from different chromosomes. The results of 13 informative microsatellite markers spanning the entire chromosome 1 revealed that the proband had a maternal isodisomy of chromosome 1 encompassing the LYST mutation. The proband's clinical presentation also confirmed the absence of imprinted genes on chromosome 1. No clinical abnormalities other than those related to the LYST mutation were found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10482950" 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="#32" class="mim-tip-reference" title="Manoli, I., Golas, G., Westbroek, W., Vilboux, T., Markello, T. C., Introne, W., Maynard, D., Pederson, B., Tsilou, E., Jordan, M. B., Hart, P. S., White, J. G., Gahl, W. A., Huizing, M. &lt;strong&gt;Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.&lt;/strong&gt; Am. J. Med. Genet. 152A: 1474-1483, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20503323/&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;20503323&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20503323[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/10.1002/ajmg.a.33389&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="20503323">Manoli et al. (2010)</a> reported an 8-month-old boy with severe Chediak-Higashi syndrome and early developmental delay who was homozygous for a truncating mutation in the LYST gene, resulting from paternal isodisomy of chromosome 1. The patient's fibroblasts expressed no detectable protein. In addition to classic features of CHS, the patient had hypotonia and developmental delay. However, both parents also had cognitive delay, and comparative genomic hybridization showed that the patient had an interstitial duplication of chromosome 6q14 inherited from his father, which likely contributed to the additional features and/or more severe phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20503323" 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="#37" class="mim-tip-reference" title="Penner, J. D., Prieur, D. J. &lt;strong&gt;A comparative study of the lesions in cultured fibroblasts of humans and four species of animals with Chediak-Higashi syndrome.&lt;/strong&gt; Am. J. Med. Genet. 28: 445-454, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3425619/&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;3425619&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320280222&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="3425619">Penner and Prieur (1987)</a> found close morphologic similarities of the CHS fibroblasts from humans, cats, mink, and cattle. Mice homozygous for the 'beige' (bg) gene have a selective deficiency of NK (natural killer) lymphocytes and an increased susceptibility to transplanted tumors. Patients with the homologous Chediak-Higashi syndrome appear to have the same defect of NK cells (<a href="#40" class="mim-tip-reference" title="Roder, J. C., Haliotis, T., Klein, M., Korec, S., Jett, J. T., Ortaldo, J., Heberman, R. B., Katz, P., Fauci, A. S. &lt;strong&gt;A new immunodeficiency disorder in humans involving NK cells.&lt;/strong&gt; Nature 284: 553-555, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6445041/&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;6445041&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/284553a0&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="6445041">Roder et al., 1980</a>). <a href="#38" class="mim-tip-reference" title="Perou, C. M., Pryor, R. J., Naas, T. P., Kaplan, J. &lt;strong&gt;The bg allele mutation is due to a LINE1 element retrotransposition.&lt;/strong&gt; Genomics 42: 366-368, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9192864/&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;9192864&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1997.4740&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="9192864">Perou et al. (1997)</a> showed that the mutation in the bg allele is the result of a LINE-1 (see <a href="/entry/151626">151626</a>) retrotransposition. <a href="#37" class="mim-tip-reference" title="Penner, J. D., Prieur, D. J. &lt;strong&gt;A comparative study of the lesions in cultured fibroblasts of humans and four species of animals with Chediak-Higashi syndrome.&lt;/strong&gt; Am. J. Med. Genet. 28: 445-454, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3425619/&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;3425619&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320280222&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="3425619">Penner and Prieur (1987)</a> found a lack of complementation when human CHS fibroblasts were fused with cat CHS fibroblasts, and also when human CHS fibroblasts were fused with mink CHS fibroblasts. This suggested that the disease has the same cause in these 3 species. NK cells are thought to have an important role in surveillance against tumor development. <a href="#54" class="mim-tip-reference" title="Virelizier, J. L., Griscelli, C. &lt;strong&gt;Interferon administration as an immunoregulatory and antimicrobial treatment in children with defective interferon secretion. In: Seligmann, M.; Hitzig, W. H. (eds.): Primary Immunodeficiencies.&lt;/strong&gt; Amsterdam: Elsevier/North Holland Biomedical Press (pub.) 1980. Pp. 473-484."None>Virelizier and Griscelli (1980)</a> simultaneously demonstrated the defect in NK cells. They could not modify the NK activity of CHS leukocytes by prolonged in vitro incubation with interferon, or by in vivo administration of interferon. Bone marrow transplantation, however, restored NK activity. Both spontaneous levels of NK activity and its in vitro activation by interferon were restored. Neutrophils kill their targets by means of 2 distinct classes of effector substances: reactive oxygen intermediates (ROI) and microbicidal/cytotoxic proteins. Myeloperoxidase deficiency (<a href="/entry/254600">254600</a>) and chronic granulomatous disease (<a href="/entry/306400">306400</a>) are examples of deficient ROI production by polymorphonuclear leukocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6445041+3425619+9192864" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="mapping" class="mim-anchor"></a>
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<p>In the mouse, the analog of CHS (beige) is linked to the TCRG locus (see <a href="/entry/186970">186970</a>) on mouse chromosome 13 (<a href="#22" class="mim-tip-reference" title="Holcombe, R. F., Strauss, W., Owen, F. L., Boxer, L. A., Warren, R. W., Conley, M. E., Ferrara, J., Leavitt, R. Y., Fauci, A. S., Taylor, B. A., Seidman, J. G. &lt;strong&gt;Relationship of the gene for Chediak-Higashi syndrome (beige) and the T-cell receptor gamma chain in mouse and man.&lt;/strong&gt; Genomics 1: 287-291, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2895730/&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;2895730&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0888-7543(87)90058-9&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="2895730">Holcombe et al., 1987</a>). The 2 loci show a frequency of recombination of 0.025. However, <a href="#22" class="mim-tip-reference" title="Holcombe, R. F., Strauss, W., Owen, F. L., Boxer, L. A., Warren, R. W., Conley, M. E., Ferrara, J., Leavitt, R. Y., Fauci, A. S., Taylor, B. A., Seidman, J. G. &lt;strong&gt;Relationship of the gene for Chediak-Higashi syndrome (beige) and the T-cell receptor gamma chain in mouse and man.&lt;/strong&gt; Genomics 1: 287-291, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2895730/&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;2895730&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0888-7543(87)90058-9&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="2895730">Holcombe et al. (1987)</a> found nonlinkage in man between TCRG and the Chediak-Higashi syndrome; lod scores were negative through a full range of recombination values and were less than -2.0 at theta = 0.20 and lower. <a href="#24" class="mim-tip-reference" title="Jenkins, N. A., Justice, M. J., Gilbert, D. J., Chu, M.-L., Copeland, N. G. &lt;strong&gt;Nidogen/entactin (Nid) maps to the proximal end of mouse chromosome 13 linked to beige (bg) and identifies a new region of homology between mouse and human chromosomes.&lt;/strong&gt; Genomics 9: 401-403, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1672300/&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;1672300&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0888-7543(91)90275-j&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="1672300">Jenkins et al. (1991)</a> predicted that the CHS1 gene may reside on distal 1q because in the mouse the homologous condition to Chediak-Higashi syndrome shows linkage to the nidogen gene (<a href="/entry/131390">131390</a>) which is located on human 1q. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1672300+2895730" 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="#16" class="mim-tip-reference" title="Fukai, K., Oh, J., Karim, M. A., Moore, K. J., Kandil, H. H., Ito, H., Burger, J., Spritz, R. A. &lt;strong&gt;Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).&lt;/strong&gt; Am. J. Hum. Genet. 59: 620-624, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8751863/&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;8751863&lt;/a&gt;]" pmid="8751863">Fukai et al. (1996)</a> carried out homozygosity mapping in 4 inbred probands with classic childhood CHS using markers derived from the human chromosome segment 1q42-q44. The lod score between markers in this region (e.g., D1S235, D1S1594, and D1S204) and CHS in the inbred kindreds was 4.82. <a href="#16" class="mim-tip-reference" title="Fukai, K., Oh, J., Karim, M. A., Moore, K. J., Kandil, H. H., Ito, H., Burger, J., Spritz, R. A. &lt;strong&gt;Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).&lt;/strong&gt; Am. J. Hum. Genet. 59: 620-624, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8751863/&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;8751863&lt;/a&gt;]" pmid="8751863">Fukai et al. (1996)</a> also studied several inbred patients with the atypical adult form of CHS. None of these individuals were homozygous for markers in distal 1q. This finding suggested to the authors that at least some cases of CHS may represent a genetic entity with a different map location. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8751863" 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="#4" class="mim-tip-reference" title="Barrat, F. J., Auloge, L., Pastural, E., Dufourcq Lagelouse, R., Vilmer, E., Cant, A. J., Weissenbach, J., Le Paslier, D., Fischer, A., de Saint Basile, G. &lt;strong&gt;Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.&lt;/strong&gt; Am. J. Hum. Genet. 59: 625-632, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8751864/&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;8751864&lt;/a&gt;]" pmid="8751864">Barrat et al. (1996)</a> mapped the CHS locus by linkage analysis to a 5-cM interval on chromosome 1q42.1-q42.2. The highest lod score (5.38 at theta = 0) was obtained with the marker D1S235. They used haplotype analysis to define D1S2680 as the telomeric flanking marker and D1S163 as the centromeric flanking marker. The 9 families used in this study were from 7 different countries. There was consanguinity in 5 of the families. <a href="#4" class="mim-tip-reference" title="Barrat, F. J., Auloge, L., Pastural, E., Dufourcq Lagelouse, R., Vilmer, E., Cant, A. J., Weissenbach, J., Le Paslier, D., Fischer, A., de Saint Basile, G. &lt;strong&gt;Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.&lt;/strong&gt; Am. J. Hum. Genet. 59: 625-632, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8751864/&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;8751864&lt;/a&gt;]" pmid="8751864">Barrat et al. (1996)</a> identified 3 YAC clones which covered the entire region in a contig. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8751864" 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="#30" class="mim-tip-reference" title="Kunieda, T., Ide, H., Nakagiri, M., Yoneda, K., Konfortov, B., Ogawa, H. &lt;strong&gt;Localization of the locus responsible for Chediak-Higashi syndrome in cattle to bovine chromosome 28.&lt;/strong&gt; Anim. Genet. 31: 87-90, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10782205/&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;10782205&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-2052.2000.00607.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="10782205">Kunieda et al. (2000)</a> demonstrated linkage between the CHS locus and marker loci on the proximal end of bovine chromosome 28. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10782205" 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="#3" class="mim-tip-reference" title="Barbosa, M. D. F. S., Barrat, F. J., Tchernev, V. T., Nguyen, Q. A., Mishra, V. S., Colman, S. D., Pastural, E., Dufourcq-Lagelouse, R., Fischer, A., Holcombe, R. F., Wallace, M. R., Brandt, S. J., de Saint Basile, G., Kingsmore S. F. &lt;strong&gt;Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.&lt;/strong&gt; Hum. Molec. Genet. 6: 1091-1098, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9215680/&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;9215680&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=9215680[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/10.1093/hmg/6.7.1091&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="9215680">Barbosa et al. (1997)</a> identified novel mutations in the coding region of the LYST gene in 3 patients with CHS (<a href="/entry/606897#0006">606897.0006</a>-<a href="/entry/606897#0007">606897.0007</a>). <a href="#27" class="mim-tip-reference" title="Karim, M. A., Nagle, D. L., Kandil, H. H., Burger, J., Moore, K. J., Spritz, R. A. &lt;strong&gt;Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein.&lt;/strong&gt; Hum. Molec. Genet. 6: 1087-1089, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9215679/&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;9215679&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/6.7.1087&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="9215679">Karim et al. (1997)</a> reported 2 homozygous LYST mutations in 2 patients with CHS (<a href="/entry/606897#0004">606897.0004</a>-<a href="/entry/606897#0005">606897.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9215680+9215679" 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="#28" class="mim-tip-reference" title="Karim, M. A., Suzuki, K., Fukai, K., Oh, J., Nagle, D. L., Moore, K. J., Barbosa, E., Falik-Borenstein, T., Filipovich, A., Ishida, Y. Kivrikko, S., Klein, C., and 8 others. &lt;strong&gt;Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.&lt;/strong&gt; Am. J. Med. Genet. 108: 16-22, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11857544/&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;11857544&lt;/a&gt;]" pmid="11857544">Karim et al. (2002)</a> performed mutation analysis of 21 unrelated patients with the childhood, adolescent, and adult forms of CHS. In patients with severe childhood CHS, they found only functionally null mutant LYST alleles, whereas in patients with the adolescent and adult forms of CHS, they also found missense mutant alleles that likely encode LYST polypeptides with partial function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11857544" 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>Man, mouse, cattle, mink, and killer whale are known to be affected. <a href="#25" class="mim-tip-reference" title="Kahraman, M. M., Prieur, D. J. &lt;strong&gt;Chediak-Higashi syndrome in the cat: prenatal diagnosis by evaluation of amniotic fluid cells.&lt;/strong&gt; Am. J. Med. Genet. 36: 321-327, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2363432/&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;2363432&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320360316&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="2363432">Kahraman and Prieur (1990)</a> stated that this disorder has been identified in 10 species, including humans. <a href="#25" class="mim-tip-reference" title="Kahraman, M. M., Prieur, D. J. &lt;strong&gt;Chediak-Higashi syndrome in the cat: prenatal diagnosis by evaluation of amniotic fluid cells.&lt;/strong&gt; Am. J. Med. Genet. 36: 321-327, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2363432/&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;2363432&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320360316&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="2363432">Kahraman and Prieur (1990)</a> succeeded in prenatal diagnosis of the disorder in cats by demonstrating abnormally large lysosomes (stained for acid phosphatase) in cultured amniotic fluid cells. In mink and cattle, the disorder is autosomal recessive (<a href="#35" class="mim-tip-reference" title="Padgett, G. A., Leader, R. W., Gorham, J. R., O&#x27;Mary, C. C. &lt;strong&gt;The familial occurrence of the Chediak-Higashi syndrome in mink and cattle.&lt;/strong&gt; Genetics 49: 505-512, 1964.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14135410/&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;14135410&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/genetics/49.3.505&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="14135410">Padgett et al., 1964</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14135410+2363432" 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>Chediak-Higashi syndrome in Japanese black cattle is a hereditary disease with prolonged bleeding time and partial albinism. <a href="#30" class="mim-tip-reference" title="Kunieda, T., Ide, H., Nakagiri, M., Yoneda, K., Konfortov, B., Ogawa, H. &lt;strong&gt;Localization of the locus responsible for Chediak-Higashi syndrome in cattle to bovine chromosome 28.&lt;/strong&gt; Anim. Genet. 31: 87-90, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10782205/&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;10782205&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-2052.2000.00607.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="10782205">Kunieda et al. (2000)</a> demonstrated linkage between the CHS locus and marker loci on the proximal end of bovine chromosome 28. They also showed that the bovine LYST gene is on chromosome 28 using a bovine/murine somatic cell hybrid panel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10782205" 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>This disorder was first reported by <a href="#6" class="mim-tip-reference" title="Beguez-Cesar, A. B. &lt;strong&gt;Neutropenia cronica maligna familiar con granulaciones atipicas de los leucocitos.&lt;/strong&gt; Bol. Soc. Cubana Pediat. 15: 900-922, 1943."None>Beguez-Cesar (1943)</a>, a Cuban pediatrician. <a href="#10" class="mim-tip-reference" title="Chediak, M. &lt;strong&gt;Nouvelle anomalie leucocytaire de caractere constitutionnel et familial.&lt;/strong&gt; Rev. Hemat. 7: 362-367, 1952.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13004553/&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;13004553&lt;/a&gt;]" pmid="13004553">Chediak (1952)</a> and <a href="#21" class="mim-tip-reference" title="Higashi, O. &lt;strong&gt;Congenital gigantism of peroxidase granules: the first case ever reported of qualitative abnormity (sic) of peroxidase.&lt;/strong&gt; Tohoku J. Exp. Med. 59: 315-332, 1954.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13169161/&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;13169161&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1620/tjem.59.315&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="13169161">Higashi (1954)</a> gave further descriptions. <a href="#42" class="mim-tip-reference" title="Sato, A. &lt;strong&gt;Chediak and Higashi&#x27;s disease: probable identity of &#x27;a new leucocytal anomaly (Chediak)&#x27; and &#x27;congenital gigantism of peroxidase granules (Higashi).&#x27;&lt;/strong&gt; Tohoku J. Exp. Med. 61: 201-210, 1955.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14396888/&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;14396888&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1620/tjem.61.201&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="14396888">Sato (1955)</a> reported 'Chediak and Higashi's disease,' the probable identity of 'a new leucocyte anomaly (Chediak)' and 'congenital gigantism of peroxidase granules (Higashi)'. <a href="#12" class="mim-tip-reference" title="Donohue, W. L., Bain, H. W. &lt;strong&gt;Chediak-Higashi syndrome, a lethal familial disease with anomalous inclusions in the leukocytes and constitutional stigmata: report of a case with necropsy.&lt;/strong&gt; Pediatrics 20: 416-430, 1957.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13465231/&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;13465231&lt;/a&gt;]" pmid="13465231">Donohue and Bain (1957)</a> used the specific designation Chediak-Higashi syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13465231+13169161+14396888+13004553" 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>See Also:</strong>
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<a href="#Abo1982" class="mim-tip-reference" title="Abo, T., Roder, J. C., Abo, W., Cooper, M. D., Balch, C. M. &lt;strong&gt;Natural killer (HNK-1+) cells in Chediak-Higashi patients are present in normal numbers but are abnormal in function and morphology.&lt;/strong&gt; J. Clin. Invest. 70: 193-197, 1982.">Abo et al. (1982)</a>; <a href="#De1981" class="mim-tip-reference" title="De Beer, H. A., Anderson, R., Findlay, G. H. &lt;strong&gt;Chediak-Higashi syndrome in a &#x27;black&#x27; child: clinical features, immunological studies, and optics of the hair and skin.&lt;/strong&gt; S. Afr. Med. J. 60: 108-112, 1981.">De Beer et al. (1981)</a>; <a href="#Gilloon1960" class="mim-tip-reference" title="Gilloon, J. R., Pease, G. L., Mills, S. D. &lt;strong&gt;Chediak-Higashi anomaly of the leukocytes: report of a case.&lt;/strong&gt; Proc. Staff Meet. Mayo Clin. 35: 635-640, 1960.">Gilloon et al. (1960)</a>; <a href="#Hargis1987" class="mim-tip-reference" title="Hargis, A. M., Prieur, D. J. &lt;strong&gt;Renal lesions in cats with Chediak-Higashi-Steinbrinck syndrome.&lt;/strong&gt; Am. J. Med. Genet. 26: 167-179, 1987.">Hargis and Prieur (1987)</a>; <a href="#Kanfer1968" class="mim-tip-reference" title="Kanfer, J. N., Blume, R. S., Yankee, R. A., Wolff, S. M. &lt;strong&gt;Sphingolipid metabolism in leukocytes in Chediak-Higashi syndrome.&lt;/strong&gt; New Eng. J. Med. 279: 410-413, 1968.">Kanfer et al. (1968)</a>; <a href="#Page1962" class="mim-tip-reference" title="Page, A. R., Berendes, H., Warner, J., Good, R. A. &lt;strong&gt;The Chediak-Higashi syndrome.&lt;/strong&gt; Blood 20: 330-343, 1962.">Page et al. (1962)</a>; <a href="#Rausch1978" class="mim-tip-reference" title="Rausch, P. G., Pryzwansky, K. B., Spitznagel, J. K. &lt;strong&gt;Immunocytochemical identification of azurophilic and specific granule markers in the giant granules of Chediak-Higashi neutrophils.&lt;/strong&gt; New Eng. J. Med. 298: 693-698, 1978.">Rausch et al. (1978)</a>; <a href="#Sadan1965" class="mim-tip-reference" title="Sadan, N., Yaffe, D., Rozenszajn, L., Efrati, P. &lt;strong&gt;Chediak&#x27;s disease: clinical, cytological and hereditary aspects. (Abstract)&lt;/strong&gt; Isr. J. Med. Sci. 1: 850 only, 1965.">Sadan et al. (1965)</a>; <a href="#Spencer1962" class="mim-tip-reference" title="Spencer, W. H., Hogan, M. J. &lt;strong&gt;Ocular manifestations of Chediak-Higashi syndrome: report of a case with histopathologic examination of ocular tissues.&lt;/strong&gt; Am. J. Ophthal. 50: 1197-1203, 1962.">Spencer and Hogan (1962)</a>; <a href="#Stegmaier1965" class="mim-tip-reference" title="Stegmaier, O. C., Schneider, L. A. &lt;strong&gt;Chediak-Higashi syndrome: dermatologic manifestations.&lt;/strong&gt; Arch. Derm. 91: 1-8, 1965.">Stegmaier and Schneider (1965)</a>; <a href="#Tanaka1980" class="mim-tip-reference" title="Tanaka, T. &lt;strong&gt;Chediak-Higashi syndrome: abnormal lysosomal enzyme levels in granulocytes of patients and family members.&lt;/strong&gt; Pediat. Res. 14: 901-904, 1980.">Tanaka (1980)</a>; <a href="#Tay1970" class="mim-tip-reference" title="Tay, C. H., Lopez, C. G., Lazarus, A. R. &lt;strong&gt;The Chediak-Higashi syndrome.&lt;/strong&gt; Med. J. Aust. 2: 1024-1028, 1970.">Tay et al. (1970)</a>; <a href="#Virelizier1982" class="mim-tip-reference" title="Virelizier, J. L., Lagrue, A., Durandy, A., Arenzana, F., Oury, C., Griscelli, C., Reinert, P. &lt;strong&gt;Reversal of natural killer defect in a patient with Chediak-Higashi syndrome after bone-marrow transplantation. (Letter)&lt;/strong&gt; New Eng. J. Med. 306: 1055-1056, 1982.">Virelizier et al. (1982)</a>; <a href="#White1979" class="mim-tip-reference" title="White, J. G., Clawson, C. C. &lt;strong&gt;The Chediak-Higashi syndrome: microtubules in monocytes and lymphocytes.&lt;/strong&gt; Am. J. Hemat. 7: 349-356, 1979.">White and Clawson (1979)</a>; <a href="#White1980" class="mim-tip-reference" title="White, J. G., Clawson, C. C. &lt;strong&gt;The Chediak-Higashi syndrome, the nature of the giant neutrophil granules and their interactions with cytoplasm and foreign particulates. I. Progressive enlargement of the massive inclusions in mature neutrophils. II. Manifestations of cytoplasmic injury and sequestration. III. Interactions between giant organelles and foreign particulates.&lt;/strong&gt; Am. J. Path. 98: 151-196, 1980.">White and Clawson
(1980)</a>; <a href="#Windhorst1968" class="mim-tip-reference" title="Windhorst, D. B., White, J. G., Zelickson, A. S., Clawson, C. C., Dent, P. B., Pollara, B., Good, R. A. &lt;strong&gt;The Chediak-Higashi anomaly and the Aleutian trait in mink: homologous defects of lysosomal structure.&lt;/strong&gt; Ann. N.Y. Acad. Sci. 155: 818-846, 1968.">Windhorst et al. (1968)</a>
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<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Abo1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Abo, T., Roder, J. C., Abo, W., Cooper, M. D., Balch, C. M.
<strong>Natural killer (HNK-1+) cells in Chediak-Higashi patients are present in normal numbers but are abnormal in function and morphology.</strong>
J. Clin. Invest. 70: 193-197, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7085883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7085883</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7085883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1172/jci110592" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Aslan1996" class="mim-anchor"></a>
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<p class="mim-text-font">
Aslan, Y., Erduran, E., Gedik, Y., Mocan, H., Yildiran, A.
<strong>The role of high dose methylprednisolone and splenectomy in the accelerated phase of Chediak-Higashi syndrome.</strong>
Acta Haemat. 96: 105-107, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8701696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8701696</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8701696" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1159/000203725" target="_blank">Full Text</a>]
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<a id="Barbosa1997" class="mim-anchor"></a>
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Barbosa, M. D. F. S., Barrat, F. J., Tchernev, V. T., Nguyen, Q. A., Mishra, V. S., Colman, S. D., Pastural, E., Dufourcq-Lagelouse, R., Fischer, A., Holcombe, R. F., Wallace, M. R., Brandt, S. J., de Saint Basile, G., Kingsmore S. F.
<strong>Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.</strong>
Hum. Molec. Genet. 6: 1091-1098, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215680</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9215680[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=9215680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/6.7.1091" target="_blank">Full Text</a>]
</p>
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<a id="Barrat1996" class="mim-anchor"></a>
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<p class="mim-text-font">
Barrat, F. J., Auloge, L., Pastural, E., Dufourcq Lagelouse, R., Vilmer, E., Cant, A. J., Weissenbach, J., Le Paslier, D., Fischer, A., de Saint Basile, G.
<strong>Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.</strong>
Am. J. Hum. Genet. 59: 625-632, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8751864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8751864</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8751864" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="5" class="mim-anchor"></a>
<a id="Barrat1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Barrat, F. J., Le Deist, F., Benkerrou, M., Bousso, P., Feldmann, J., Fischer, A., de Saint Basile, G.
<strong>Defective CTLA-4 cycling pathway in Chediak-Higashi syndrome: a possible mechanism for deregulation of T lymphocyte activation.</strong>
Proc. Nat. Acad. Sci. 96: 8645-8650, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10411929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10411929</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10411929[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=10411929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.96.15.8645" target="_blank">Full Text</a>]
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<a id="Beguez-Cesar1943" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Beguez-Cesar, A. B.
<strong>Neutropenia cronica maligna familiar con granulaciones atipicas de los leucocitos.</strong>
Bol. Soc. Cubana Pediat. 15: 900-922, 1943.
</p>
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<a id="7" class="mim-anchor"></a>
<a id="Bejaoui1989" class="mim-anchor"></a>
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<p class="mim-text-font">
Bejaoui, M., Veber, F., Girault, D., Gaud, C., Blanche, S., Griscelli, C., Fischer, A.
<strong>Phase acceleree de la maladie de Chediak-Higashi.</strong>
Arch. Franc. Pediat. 46: 733-736, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2697195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2697195</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2697195" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="8" class="mim-anchor"></a>
<a id="Blume1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Blume, R. S., Wolff, S. M.
<strong>The Chediak-Higashi syndrome: studies in four patients and a review of the literature.</strong>
Medicine 51: 247-280, 1972.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5064229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5064229</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5064229" 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="Boxer1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Boxer, L. A., Watanabe, A. M., Rister, M., Besch, H. R., Jr., Allen, J., Baehner, R. L.
<strong>Correction of leukocyte function in Chediak-Higashi syndrome by ascorbate.</strong>
New Eng. J. Med. 295: 1041-1045, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/184391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">184391</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=184391" 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/NEJM197611042951904" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
<a id="Chediak1952" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chediak, M.
<strong>Nouvelle anomalie leucocytaire de caractere constitutionnel et familial.</strong>
Rev. Hemat. 7: 362-367, 1952.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13004553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13004553</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13004553" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="11" class="mim-anchor"></a>
<a id="De Beer1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
De Beer, H. A., Anderson, R., Findlay, G. H.
<strong>Chediak-Higashi syndrome in a 'black' child: clinical features, immunological studies, and optics of the hair and skin.</strong>
S. Afr. Med. J. 60: 108-112, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7256443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7256443</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7256443" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="12" class="mim-anchor"></a>
<a id="Donohue1957" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Donohue, W. L., Bain, H. W.
<strong>Chediak-Higashi syndrome, a lethal familial disease with anomalous inclusions in the leukocytes and constitutional stigmata: report of a case with necropsy.</strong>
Pediatrics 20: 416-430, 1957.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13465231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13465231</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13465231" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="13" class="mim-anchor"></a>
<a id="Dufourcq-Lagelouse1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dufourcq-Lagelouse, R., Lambert, N., Duval, M., Viot, G., Vilmer, E., Fischer, A., Prieur, M., de Saint Basile, G.
<strong>Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.</strong>
Europ. J. Hum. Genet. 7: 633-637, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10482950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10482950</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10482950" 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/sj.ejhg.5200355" target="_blank">Full Text</a>]
</p>
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<a id="14" class="mim-anchor"></a>
<a id="Efrati1958" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Efrati, P., Jonas, W.
<strong>Chediak's anomaly of leukocytes in malignant lymphoma associated with leukemic manifestations: case report with necropsy.</strong>
Blood 13: 1063-1073, 1958.
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Faigle, W., Raposo, G., Tenza, D., Pinet, V., Vogt, A. B., Kropshofer, H., Fischer, A., de Saint-Basile, G., Amigorena, S.
<strong>Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome.</strong>
J. Cell Biol. 141: 1121-1134, 1998.
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[<a href="https://doi.org/10.1083/jcb.141.5.1121" target="_blank">Full Text</a>]
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<a id="Fukai1996" class="mim-anchor"></a>
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Fukai, K., Oh, J., Karim, M. A., Moore, K. J., Kandil, H. H., Ito, H., Burger, J., Spritz, R. A.
<strong>Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).</strong>
Am. J. Hum. Genet. 59: 620-624, 1996.
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<a id="Ganz1988" class="mim-anchor"></a>
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<p class="mim-text-font">
Ganz, T., Metcalf, J. A., Gallin, J. I., Boxer, L. A., Lehrer, R. I.
<strong>Microbicidal/cytotoxic proteins of neutrophils are deficient in two disorders: Chediak-Higashi syndrome and 'specific' granule deficiency.</strong>
J. Clin. Invest. 82: 552-556, 1988.
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[<a href="https://doi.org/10.1172/JCI113631" target="_blank">Full Text</a>]
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<a id="Gilloon1960" class="mim-anchor"></a>
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Gilloon, J. R., Pease, G. L., Mills, S. D.
<strong>Chediak-Higashi anomaly of the leukocytes: report of a case.</strong>
Proc. Staff Meet. Mayo Clin. 35: 635-640, 1960.
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<a id="Hargis1985" class="mim-anchor"></a>
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Hargis, A. M., Prieur, D. J.
<strong>Light and electron microscopy of hepatocytes of cats with Chediak-Higashi syndrome.</strong>
Am. J. Med. Genet. 22: 659-668, 1985.
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[<a href="https://doi.org/10.1002/ajmg.1320220403" target="_blank">Full Text</a>]
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<a id="Hargis1987" class="mim-anchor"></a>
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Hargis, A. M., Prieur, D. J.
<strong>Renal lesions in cats with Chediak-Higashi-Steinbrinck syndrome.</strong>
Am. J. Med. Genet. 26: 167-179, 1987.
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[<a href="https://doi.org/10.1002/ajmg.1320260125" target="_blank">Full Text</a>]
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<a id="Higashi1954" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Higashi, O.
<strong>Congenital gigantism of peroxidase granules: the first case ever reported of qualitative abnormity (sic) of peroxidase.</strong>
Tohoku J. Exp. Med. 59: 315-332, 1954.
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[<a href="https://doi.org/10.1620/tjem.59.315" target="_blank">Full Text</a>]
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<p class="mim-text-font">
Holcombe, R. F., Strauss, W., Owen, F. L., Boxer, L. A., Warren, R. W., Conley, M. E., Ferrara, J., Leavitt, R. Y., Fauci, A. S., Taylor, B. A., Seidman, J. G.
<strong>Relationship of the gene for Chediak-Higashi syndrome (beige) and the T-cell receptor gamma chain in mouse and man.</strong>
Genomics 1: 287-291, 1987.
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[<a href="https://doi.org/10.1016/0888-7543(87)90058-9" target="_blank">Full Text</a>]
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<a id="Inoue1991" class="mim-anchor"></a>
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Inoue, R., Kondo, N., Motoyoshi, F., Hori, Y., Orii, T.
<strong>Chediak-Higashi syndrome: report of a case with an ovarian tumor.(Letter)</strong>
Clin. Genet. 39: 316-318, 1991.
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[<a href="https://doi.org/10.1111/j.1399-0004.1991.tb03036.x" target="_blank">Full Text</a>]
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<p class="mim-text-font">
Jenkins, N. A., Justice, M. J., Gilbert, D. J., Chu, M.-L., Copeland, N. G.
<strong>Nidogen/entactin (Nid) maps to the proximal end of mouse chromosome 13 linked to beige (bg) and identifies a new region of homology between mouse and human chromosomes.</strong>
Genomics 9: 401-403, 1991.
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[<a href="https://doi.org/10.1016/0888-7543(91)90275-j" target="_blank">Full Text</a>]
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Kahraman, M. M., Prieur, D. J.
<strong>Chediak-Higashi syndrome in the cat: prenatal diagnosis by evaluation of amniotic fluid cells.</strong>
Am. J. Med. Genet. 36: 321-327, 1990.
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[<a href="https://doi.org/10.1002/ajmg.1320360316" target="_blank">Full Text</a>]
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Kanfer, J. N., Blume, R. S., Yankee, R. A., Wolff, S. M.
<strong>Sphingolipid metabolism in leukocytes in Chediak-Higashi syndrome.</strong>
New Eng. J. Med. 279: 410-413, 1968.
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[<a href="https://doi.org/10.1056/NEJM196808222790806" target="_blank">Full Text</a>]
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Karim, M. A., Nagle, D. L., Kandil, H. H., Burger, J., Moore, K. J., Spritz, R. A.
<strong>Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein.</strong>
Hum. Molec. Genet. 6: 1087-1089, 1997.
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[<a href="https://doi.org/10.1093/hmg/6.7.1087" target="_blank">Full Text</a>]
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Karim, M. A., Suzuki, K., Fukai, K., Oh, J., Nagle, D. L., Moore, K. J., Barbosa, E., Falik-Borenstein, T., Filipovich, A., Ishida, Y. Kivrikko, S., Klein, C., and 8 others.
<strong>Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.</strong>
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Kritzler, R. A., Terner, J. Y., Lindenbaum, J., Magidson, J., Williams, R., Preisig, R., Phillips, G. B.
<strong>Chediak-Higashi syndrome: cytologic and serum lipid observations in a case and family.</strong>
Am. J. Med. 36: 583-594, 1964.
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[<a href="https://doi.org/10.1016/0002-9343(64)90106-8" target="_blank">Full Text</a>]
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Kunieda, T., Ide, H., Nakagiri, M., Yoneda, K., Konfortov, B., Ogawa, H.
<strong>Localization of the locus responsible for Chediak-Higashi syndrome in cattle to bovine chromosome 28.</strong>
Anim. Genet. 31: 87-90, 2000.
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[<a href="https://doi.org/10.1046/j.1365-2052.2000.00607.x" target="_blank">Full Text</a>]
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Leader, R. W., Padgett, G. A., Gorham, J. R.
<strong>Hereditary leukomelanopathy (Chediak-Higashi syndrome of man, mink and cattle). In: Gajdusek, D. C.; Gibbs, C. J., Jr.; Alpers, M. (eds.): Slow, Latent and Temperate Virus Infections. Monograph 2.</strong>
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Manoli, I., Golas, G., Westbroek, W., Vilboux, T., Markello, T. C., Introne, W., Maynard, D., Pederson, B., Tsilou, E., Jordan, M. B., Hart, P. S., White, J. G., Gahl, W. A., Huizing, M.
<strong>Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.</strong>
Am. J. Med. Genet. 152A: 1474-1483, 2010.
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[<a href="https://doi.org/10.1002/ajmg.a.33389" target="_blank">Full Text</a>]
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Misra, V. P., King, R. H. M., Harding, A. E., Muddle, J. R., Thomas, P. K.
<strong>Peripheral neuropathy in the Chediak-Higashi syndrome.</strong>
Acta Neuropath. 81: 354-358, 1991.
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[<a href="https://doi.org/10.1007/BF00305881" target="_blank">Full Text</a>]
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Oliver, J. M., Zurier, R. B.
<strong>Correction of characteristic abnormalities of microtubule function and granule morphology in Chediak-Higashi syndrome with cholinergic agonists: studies in vitro in man and in vivo in the beige mouse.</strong>
J. Clin. Invest. 57: 1239-1247, 1976.
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[<a href="https://doi.org/10.1172/JCI108392" target="_blank">Full Text</a>]
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Padgett, G. A., Leader, R. W., Gorham, J. R., O'Mary, C. C.
<strong>The familial occurrence of the Chediak-Higashi syndrome in mink and cattle.</strong>
Genetics 49: 505-512, 1964.
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[<a href="https://doi.org/10.1093/genetics/49.3.505" target="_blank">Full Text</a>]
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Page, A. R., Berendes, H., Warner, J., Good, R. A.
<strong>The Chediak-Higashi syndrome.</strong>
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Penner, J. D., Prieur, D. J.
<strong>A comparative study of the lesions in cultured fibroblasts of humans and four species of animals with Chediak-Higashi syndrome.</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320280222" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.1997.4740" target="_blank">Full Text</a>]
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Rausch, P. G., Pryzwansky, K. B., Spitznagel, J. K.
<strong>Immunocytochemical identification of azurophilic and specific granule markers in the giant granules of Chediak-Higashi neutrophils.</strong>
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[<a href="https://doi.org/10.1056/NEJM197803302981301" target="_blank">Full Text</a>]
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Roder, J. C., Haliotis, T., Klein, M., Korec, S., Jett, J. T., Ortaldo, J., Heberman, R. B., Katz, P., Fauci, A. S.
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Sadan, N., Yaffe, D., Rozenszajn, L., Efrati, P.
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Sato, A.
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[<a href="https://doi.org/10.1620/tjem.61.201" target="_blank">Full Text</a>]
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Sheramata, W., Kott, H. S., Cyr, D. P.
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[<a href="https://doi.org/10.1001/archneur.1971.00490040015001" target="_blank">Full Text</a>]
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<p class="mim-text-font">
Shimazaki, H., Honda, J., Naoi, T., Namekawa, M., Nakano, I., Yazaki, M., Nakamura, K., Yoshida, K., Ikeda, S., Ishiura, H., Fukuda, Y., Takahashi, Y., Goto, J., Tsuji, S., Takiyama, Y.
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[<a href="https://doi.org/10.1136/jnnp-2013-306981" target="_blank">Full Text</a>]
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<p class="mim-text-font">
Siccardi, A. G., Bianchi, E., Calligari, A., Clivio, A., Fortunato, A., Magrini, U., Sacchi, F.
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Spencer, W. H., Hogan, M. J.
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Spritz, R. A.
<strong>Chediak-Higashi syndrome. In: Ochs, H. D.; Smith, C. I. E.; Puck, J. M. (eds.): Primary Immunodeficiency Diseases: A Molecular and Genetic Approach.</strong>
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Spritz, R. A.
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[<a href="https://doi.org/10.1034/j.1399-0004.1999.550503.x" target="_blank">Full Text</a>]
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Stegmaier, O. C., Schneider, L. A.
<strong>Chediak-Higashi syndrome: dermatologic manifestations.</strong>
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[<a href="https://doi.org/10.1001/archderm.1965.01600070007001" target="_blank">Full Text</a>]
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<p class="mim-text-font">
Tanaka, T.
<strong>Chediak-Higashi syndrome: abnormal lysosomal enzyme levels in granulocytes of patients and family members.</strong>
Pediat. Res. 14: 901-904, 1980.
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[<a href="https://doi.org/10.1203/00006450-198008000-00001" target="_blank">Full Text</a>]
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Tardieu, M., Lacroix, C., Neven, B., Bordigoni, P., de Saint Basile, G., Blanche, S., Fischer, A.
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[<a href="https://doi.org/10.1182/blood-2005-01-0319" target="_blank">Full Text</a>]
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Tay, C. H., Lopez, C. G., Lazarus, A. R.
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[<a href="https://doi.org/10.5694/j.1326-5377.1970.tb63324.x" target="_blank">Full Text</a>]
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<p class="mim-text-font">
Uyama, E., Hirano, T., Ito, K., Nakashima, H., Sugimoto, M., Naito, M., Uchino, M., Ando, M.
<strong>Adult Chediak-Higashi syndrome presenting as parkinsonism and dementia.</strong>
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[<a href="https://doi.org/10.1111/j.1600-0404.1994.tb01657.x" target="_blank">Full Text</a>]
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Virelizier, J. L., Griscelli, C.
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Virelizier, J. L., Lagrue, A., Durandy, A., Arenzana, F., Oury, C., Griscelli, C., Reinert, P.
<strong>Reversal of natural killer defect in a patient with Chediak-Higashi syndrome after bone-marrow transplantation. (Letter)</strong>
New Eng. J. Med. 306: 1055-1056, 1982.
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[<a href="https://doi.org/10.1056/nejm198204293061718" target="_blank">Full Text</a>]
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<p class="mim-text-font">
White, J. G., Clawson, C. C.
<strong>The Chediak-Higashi syndrome: microtubules in monocytes and lymphocytes.</strong>
Am. J. Hemat. 7: 349-356, 1979.
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[<a href="https://doi.org/10.1002/ajh.2830070407" target="_blank">Full Text</a>]
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<p class="mim-text-font">
White, J. G., Clawson, C. C.
<strong>The Chediak-Higashi syndrome, the nature of the giant neutrophil granules and their interactions with cytoplasm and foreign particulates. I. Progressive enlargement of the massive inclusions in mature neutrophils. II. Manifestations of cytoplasmic injury and sequestration. III. Interactions between giant organelles and foreign particulates.</strong>
Am. J. Path. 98: 151-196, 1980.
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<div class="">
<p class="mim-text-font">
White, J. G.
<strong>The Chediak-Higashi syndrome: a possible lysosomal disease.</strong>
Blood 28: 143-156, 1966.
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<div class="">
<p class="mim-text-font">
Windhorst, D. B., White, J. G., Zelickson, A. S., Clawson, C. C., Dent, P. B., Pollara, B., Good, R. A.
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<div class="">
<p class="mim-text-font">
Windhorst, D. B., Zelickson, A. S., Good, R. A.
<strong>Chediak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles.</strong>
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[<a href="https://doi.org/10.1126/science.151.3706.81" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 7/2/2015
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Cassandra L. Kniffin - updated : 11/29/2010<br>Marla J. F. O'Neill - updated : 10/6/2005<br>Victor A. McKusick - updated : 2/8/2002<br>Victor A. McKusick - updated : 2/7/2001<br>Victor A. McKusick - updated : 11/8/1999<br>Victor A. McKusick - updated : 9/23/1999<br>Wilson H. Y. Lo - updated : 8/31/1999<br>Victor A. McKusick - updated : 8/13/1999<br>Victor A. McKusick - updated : 9/15/1998<br>Victor A. McKusick - updated : 2/11/1998<br>Victor A. McKusick - updated : 8/15/1997<br>Alan F. Scott - updated : 7/22/1997<br>Cynthia K. Ewing - updated : 10/8/1996<br>Moyra Smith - updated : 9/16/1996
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Victor A. McKusick : 6/3/1986
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<strong>#</strong> 214500
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<span class="mim-font">
CHEDIAK-HIGASHI SYNDROME; CHS
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<strong>SNOMEDCT:</strong> 111396008; &nbsp;
<strong>ICD10CM:</strong> D72.0, E70.330; &nbsp;
<strong>ORPHA:</strong> 167; &nbsp;
<strong>DO:</strong> 2935; &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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1q42.3
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Chediak-Higashi syndrome
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214500
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Autosomal recessive
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3
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LYST
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606897
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Chediak-Higashi syndrome (CHS) is caused by homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST; 606897) on chromosome 1q42.</p>
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<strong>Description</strong>
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<p>Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by hypopigmentation or oculocutaneous albinism with low vision, nystagmus, and photophobia, and severe immunologic deficiency with neutropenia and lack of natural killer cell function. A hallmark of the disorder is giant inclusion bodies in virtually all granulated cells (summary by Fukai et al., 1996). The majority of CHS patients eventually develop a lymphoproliferative syndrome, the 'accelerated phase' of the disorder, characterized by generalized lymphohistiocytic infiltrates, fever, jaundice, hepatosplenomegaly, lymphadenopathy, pancytopenia, and bleeding (summary by Spritz, 1999). </p>
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<strong>Clinical Features</strong>
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<p>The features of Chediak-Higashi syndrome are decreased pigmentation of hair and eyes (partial albinism), photophobia, nystagmus, large eosinophilic, peroxidase-positive inclusion bodies in the myeloblasts and promyelocytes of the bone marrow, neutropenia, abnormal susceptibility to infection, and peculiar malignant lymphoma. Death often occurs before the age of 7 years. Kritzler et al. (1964) found the karyotype normal in a 16-year-old patient. Glycolipid inclusions were described in histiocytes, renal tubular epithelium, and neurons. Heterozygotes were identifiable by the presence of a granular anomaly of the lymphocytes. The patient died of massive gastrointestinal hemorrhage. Leukemia and lymphoma have been observed (Efrati and Jonas, 1958). </p><p>Windhorst et al. (1966) found large lysosomal granules in leukocytes and giant melanosomes in melanocytes. For this reason, Leader et al. (1966) referred to the condition as 'hereditary leukomelanopathy.' Hargis and Prieur (1985), who studied CHS in cats, quoted White (1966) as providing evidence that many of the enlarged granules in CHS cells are derived from lysosomes. Sheramata et al. (1971) described 3 brothers, aged 31, 34 and 38, who had this disorder and a neurologic picture resembling spinocerebellar degeneration. Neutrophils are deficient in chemotactic and bactericidal activities. Microtubular abnormalities have been demonstrated (Oliver and Zurier, 1976) and ascorbic acid corrects certain functional abnormalities of the cells (Boxer et al., 1976). </p><p>Siccardi et al. (1978) described a 4-year-old Italian boy with recurrent infections. Both he and his healthy father had a severe isolated defect in bactericidal activity of circulating neutrophils. The parents of the proband were first cousins once removed. The proband had silvery-blond hair, individual hairs showing silver and blond banding, as well as a slate-gray generalized hyperpigmentation of the skin. Generalized lymph node enlargement and hepatosplenomegaly were present. The boy died at age 4 years and 9 months, following cerebral hemorrhage (probably secondary to thrombocytopenia caused by hypersplenism). No autopsy was performed. Obviously there were similarities to and differences from the Chediak-Higashi syndrome. Inoue et al. (1991) reported the occurrence of sclerosing stromal tumor of the ovary in a 13-year-old girl with CHS. </p><p>Spritz (1999) provided a comprehensive review.</p><p>Tardieu et al. (2005) reported 3 patients with CHS who underwent successful bone marrow transplantation (BMT) in childhood with sustained mixed chimerism and no subsequent recurrent infections or hemophagocytic syndrome. At the age of 20 to 24 years, each patient developed neurologic symptoms combining difficulty walking, loss of balance, and tremor. Examination revealed cerebellar ataxia and signs of peripheral neuropathy. Electrophysiologic studies showed motor-sensory axonal neuropathy, there was axon loss on peripheral nerve biopsy, and cerebellar atrophy was detected on brain MRI. Tardieu et al. (2005) reviewed the neurologic status of 4 other patients with CHS who had undergone BMT: 1 began having gait abnormality, falls when walking, and decreased cognitive abilities at the age of 21; 3 other patients, aged 17, 14, and 2 years, had borderline low IQ scores but normal neurologic examinations. Tardieu et al. (2005) noted that the neurologic symptoms observed were identical to those in adults with mild CHS who did not undergo BMT, and concluded that the symptoms most likely resulted from steady long-term progression, despite BMT, of the lysosomal defect in neurons and glial cells. </p><p><strong><em>Clinical Variability</em></strong></p><p>
Shimazaki et al. (2014) reported 2 brothers, born of consanguineous Japanese parents, who presented with gait abnormalities due to spastic paraplegia, cerebellar ataxia, and peripheral neuropathy at ages 48 and 58 years, respectively. Brain MRI showed cerebellar atrophy. Neither patient had pigmentary abnormalities of the skin or eyes, clinical features of immunodeficiency, or a bleeding tendency. Peripheral blood showed giant granules in granulocytes and reduced NK cell activity. Linkage analysis combined with exome sequencing identified a homozygous missense mutation in the LYST gene (c.4189T-G, F1397V); functional studies of the variant were not performed. The report expanded the phenotypic spectrum of CHS to include a late-onset, slowly progressive, mainly neurologic disorder. </p>
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<strong>Clinical Management</strong>
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<p>In a girl with Chediak-Higashi syndrome, Aslan et al. (1996) reported on the temporary success (11 months) of high-dose methylprednisolone during the 'accelerated phase' of her condition after unsuccessful treatment with vincristine, prednisolone, ascorbic acid, and antibiotics (ceftriaxone, netilmicin, and co-trimoxazole). After a second trial of high-dose methylprednisolone was unsuccessful, splenectomy continued the child's survival for an additional 29 months. The patient died of neutropenic septicemia. Atypically, this child had pulmonary involvement and no evidence of lymphohistiocytic infiltration in the rectum and sigmoid colon with biopsy proven intestinal polyposis. </p><p>Spritz (1999) stated that management of the so-called accelerated phase of the disorder is quite difficult (Bejaoui et al., 1989). Most patients ultimately require bone marrow transplantation, without which mean survival is only about 3.1 years, death usually resulting from pyogenic infections or hemorrhage (Blume and Wolff, 1972). Patients who do not develop an accelerated phase tend to have fewer or no infections, but usually develop progressively debilitating neurologic manifestations (Misra et al., 1991; Uyama et al., 1994). </p>
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<strong>Biochemical Features</strong>
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<p>Ganz et al. (1988) demonstrated deficiency of cathepsin G (116830) and elastase (130130) in all 3 patients with CHS whom they studied. Cathepsin G is a constituent of the azurophil granule; defensins, which are also constituents, were normal or only mildly decreased in the CHS patients. Elastase has an ancillary microbicidal/cytotoxic action. In another disorder with frequent and severe bacterial infections, namely, specific granule deficiency (SGD; 245480), Ganz et al. (1988) found almost complete deficiency of defensins. </p><p>In cells from patients with the Chediak-Higashi syndrome, Faigle et al. (1998) found that peptide loading onto major histocompatibility complex class II molecules and antigen presentation were strongly delayed. Results of other studies suggested that the product of the LYST gene (606897) is required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules. </p><p>Cytotoxic T-lymphocyte-associated antigen-4 (CTLA4; 123890) plays a major role in the regulation of T-cell activation. Its membrane expression is highly regulated by endocytosis and trafficking through the secretory lysosome pathway. Chediak-Higashi syndrome is caused by mutations in the lysosomal trafficking regulator gene LYST. It results in defective membrane targeting of the proteins present in secretory lysosomes, and it is associated with a variety of features, including a lymphoproliferative syndrome with hemophagocytosis in the human. 'Beige' mice, the murine equivalent of CHS, present similar characteristics but do not develop the lymphoproliferative syndrome. Barrat et al. (1999) showed that intracellular trafficking of CTLA4 is impaired in the T cells of CHS patients and results in defective cell surface expression of this molecule. In contrast, little is defective in CTLA4 trafficking in 'beige' mouse T cells, and membrane expression of CTLA4 is normal. They proposed that the defective surface expression of CTLA4 by CHS T cells is involved in the generation of lymphoproliferative disease. </p>
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<strong>Inheritance</strong>
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<p>Dufourcq-Lagelouse et al. (1999) reported the case of a unique patient with CHS, who was homozygous for a stop codon in the LYST gene and who had a normal 46,XY karyotype. The mother was found to be a carrier of the mutation, whereas the father had 2 normal LYST alleles. Nonpaternity was excluded by analysis of microsatellite markers from different chromosomes. The results of 13 informative microsatellite markers spanning the entire chromosome 1 revealed that the proband had a maternal isodisomy of chromosome 1 encompassing the LYST mutation. The proband's clinical presentation also confirmed the absence of imprinted genes on chromosome 1. No clinical abnormalities other than those related to the LYST mutation were found. </p><p>Manoli et al. (2010) reported an 8-month-old boy with severe Chediak-Higashi syndrome and early developmental delay who was homozygous for a truncating mutation in the LYST gene, resulting from paternal isodisomy of chromosome 1. The patient's fibroblasts expressed no detectable protein. In addition to classic features of CHS, the patient had hypotonia and developmental delay. However, both parents also had cognitive delay, and comparative genomic hybridization showed that the patient had an interstitial duplication of chromosome 6q14 inherited from his father, which likely contributed to the additional features and/or more severe phenotype. </p>
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<strong>Other Features</strong>
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<p>Penner and Prieur (1987) found close morphologic similarities of the CHS fibroblasts from humans, cats, mink, and cattle. Mice homozygous for the 'beige' (bg) gene have a selective deficiency of NK (natural killer) lymphocytes and an increased susceptibility to transplanted tumors. Patients with the homologous Chediak-Higashi syndrome appear to have the same defect of NK cells (Roder et al., 1980). Perou et al. (1997) showed that the mutation in the bg allele is the result of a LINE-1 (see 151626) retrotransposition. Penner and Prieur (1987) found a lack of complementation when human CHS fibroblasts were fused with cat CHS fibroblasts, and also when human CHS fibroblasts were fused with mink CHS fibroblasts. This suggested that the disease has the same cause in these 3 species. NK cells are thought to have an important role in surveillance against tumor development. Virelizier and Griscelli (1980) simultaneously demonstrated the defect in NK cells. They could not modify the NK activity of CHS leukocytes by prolonged in vitro incubation with interferon, or by in vivo administration of interferon. Bone marrow transplantation, however, restored NK activity. Both spontaneous levels of NK activity and its in vitro activation by interferon were restored. Neutrophils kill their targets by means of 2 distinct classes of effector substances: reactive oxygen intermediates (ROI) and microbicidal/cytotoxic proteins. Myeloperoxidase deficiency (254600) and chronic granulomatous disease (306400) are examples of deficient ROI production by polymorphonuclear leukocytes. </p>
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<strong>Mapping</strong>
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<p>In the mouse, the analog of CHS (beige) is linked to the TCRG locus (see 186970) on mouse chromosome 13 (Holcombe et al., 1987). The 2 loci show a frequency of recombination of 0.025. However, Holcombe et al. (1987) found nonlinkage in man between TCRG and the Chediak-Higashi syndrome; lod scores were negative through a full range of recombination values and were less than -2.0 at theta = 0.20 and lower. Jenkins et al. (1991) predicted that the CHS1 gene may reside on distal 1q because in the mouse the homologous condition to Chediak-Higashi syndrome shows linkage to the nidogen gene (131390) which is located on human 1q. </p><p>Fukai et al. (1996) carried out homozygosity mapping in 4 inbred probands with classic childhood CHS using markers derived from the human chromosome segment 1q42-q44. The lod score between markers in this region (e.g., D1S235, D1S1594, and D1S204) and CHS in the inbred kindreds was 4.82. Fukai et al. (1996) also studied several inbred patients with the atypical adult form of CHS. None of these individuals were homozygous for markers in distal 1q. This finding suggested to the authors that at least some cases of CHS may represent a genetic entity with a different map location. </p><p>Barrat et al. (1996) mapped the CHS locus by linkage analysis to a 5-cM interval on chromosome 1q42.1-q42.2. The highest lod score (5.38 at theta = 0) was obtained with the marker D1S235. They used haplotype analysis to define D1S2680 as the telomeric flanking marker and D1S163 as the centromeric flanking marker. The 9 families used in this study were from 7 different countries. There was consanguinity in 5 of the families. Barrat et al. (1996) identified 3 YAC clones which covered the entire region in a contig. </p><p>Kunieda et al. (2000) demonstrated linkage between the CHS locus and marker loci on the proximal end of bovine chromosome 28. </p>
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<strong>Molecular Genetics</strong>
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<p>Barbosa et al. (1997) identified novel mutations in the coding region of the LYST gene in 3 patients with CHS (606897.0006-606897.0007). Karim et al. (1997) reported 2 homozygous LYST mutations in 2 patients with CHS (606897.0004-606897.0005). </p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>Karim et al. (2002) performed mutation analysis of 21 unrelated patients with the childhood, adolescent, and adult forms of CHS. In patients with severe childhood CHS, they found only functionally null mutant LYST alleles, whereas in patients with the adolescent and adult forms of CHS, they also found missense mutant alleles that likely encode LYST polypeptides with partial function. </p>
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<strong>Animal Model</strong>
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<p>Man, mouse, cattle, mink, and killer whale are known to be affected. Kahraman and Prieur (1990) stated that this disorder has been identified in 10 species, including humans. Kahraman and Prieur (1990) succeeded in prenatal diagnosis of the disorder in cats by demonstrating abnormally large lysosomes (stained for acid phosphatase) in cultured amniotic fluid cells. In mink and cattle, the disorder is autosomal recessive (Padgett et al., 1964). </p><p>Chediak-Higashi syndrome in Japanese black cattle is a hereditary disease with prolonged bleeding time and partial albinism. Kunieda et al. (2000) demonstrated linkage between the CHS locus and marker loci on the proximal end of bovine chromosome 28. They also showed that the bovine LYST gene is on chromosome 28 using a bovine/murine somatic cell hybrid panel. </p>
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<strong>History</strong>
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<p>This disorder was first reported by Beguez-Cesar (1943), a Cuban pediatrician. Chediak (1952) and Higashi (1954) gave further descriptions. Sato (1955) reported 'Chediak and Higashi's disease,' the probable identity of 'a new leucocyte anomaly (Chediak)' and 'congenital gigantism of peroxidase granules (Higashi)'. Donohue and Bain (1957) used the specific designation Chediak-Higashi syndrome. </p>
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<strong>See Also:</strong>
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Abo et al. (1982); De Beer et al. (1981); Gilloon et al. (1960);
Hargis and Prieur (1987); Kanfer et al. (1968); Page et al. (1962);
Rausch et al. (1978); Sadan et al. (1965); Spencer and Hogan (1962);
Stegmaier and Schneider (1965); Tanaka (1980); Tay et al. (1970);
Virelizier et al. (1982); White and Clawson (1979); White and Clawson
(1980); Windhorst et al. (1968)
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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<ol>
<li>
<p class="mim-text-font">
Abo, T., Roder, J. C., Abo, W., Cooper, M. D., Balch, C. M.
<strong>Natural killer (HNK-1+) cells in Chediak-Higashi patients are present in normal numbers but are abnormal in function and morphology.</strong>
J. Clin. Invest. 70: 193-197, 1982.
[PubMed: 7085883]
[Full Text: https://doi.org/10.1172/jci110592]
</p>
</li>
<li>
<p class="mim-text-font">
Aslan, Y., Erduran, E., Gedik, Y., Mocan, H., Yildiran, A.
<strong>The role of high dose methylprednisolone and splenectomy in the accelerated phase of Chediak-Higashi syndrome.</strong>
Acta Haemat. 96: 105-107, 1996.
[PubMed: 8701696]
[Full Text: https://doi.org/10.1159/000203725]
</p>
</li>
<li>
<p class="mim-text-font">
Barbosa, M. D. F. S., Barrat, F. J., Tchernev, V. T., Nguyen, Q. A., Mishra, V. S., Colman, S. D., Pastural, E., Dufourcq-Lagelouse, R., Fischer, A., Holcombe, R. F., Wallace, M. R., Brandt, S. J., de Saint Basile, G., Kingsmore S. F.
<strong>Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.</strong>
Hum. Molec. Genet. 6: 1091-1098, 1997.
[PubMed: 9215680]
[Full Text: https://doi.org/10.1093/hmg/6.7.1091]
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</li>
<li>
<p class="mim-text-font">
Barrat, F. J., Auloge, L., Pastural, E., Dufourcq Lagelouse, R., Vilmer, E., Cant, A. J., Weissenbach, J., Le Paslier, D., Fischer, A., de Saint Basile, G.
<strong>Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.</strong>
Am. J. Hum. Genet. 59: 625-632, 1996.
[PubMed: 8751864]
</p>
</li>
<li>
<p class="mim-text-font">
Barrat, F. J., Le Deist, F., Benkerrou, M., Bousso, P., Feldmann, J., Fischer, A., de Saint Basile, G.
<strong>Defective CTLA-4 cycling pathway in Chediak-Higashi syndrome: a possible mechanism for deregulation of T lymphocyte activation.</strong>
Proc. Nat. Acad. Sci. 96: 8645-8650, 1999.
[PubMed: 10411929]
[Full Text: https://doi.org/10.1073/pnas.96.15.8645]
</p>
</li>
<li>
<p class="mim-text-font">
Beguez-Cesar, A. B.
<strong>Neutropenia cronica maligna familiar con granulaciones atipicas de los leucocitos.</strong>
Bol. Soc. Cubana Pediat. 15: 900-922, 1943.
</p>
</li>
<li>
<p class="mim-text-font">
Bejaoui, M., Veber, F., Girault, D., Gaud, C., Blanche, S., Griscelli, C., Fischer, A.
<strong>Phase acceleree de la maladie de Chediak-Higashi.</strong>
Arch. Franc. Pediat. 46: 733-736, 1989.
[PubMed: 2697195]
</p>
</li>
<li>
<p class="mim-text-font">
Blume, R. S., Wolff, S. M.
<strong>The Chediak-Higashi syndrome: studies in four patients and a review of the literature.</strong>
Medicine 51: 247-280, 1972.
[PubMed: 5064229]
</p>
</li>
<li>
<p class="mim-text-font">
Boxer, L. A., Watanabe, A. M., Rister, M., Besch, H. R., Jr., Allen, J., Baehner, R. L.
<strong>Correction of leukocyte function in Chediak-Higashi syndrome by ascorbate.</strong>
New Eng. J. Med. 295: 1041-1045, 1976.
[PubMed: 184391]
[Full Text: https://doi.org/10.1056/NEJM197611042951904]
</p>
</li>
<li>
<p class="mim-text-font">
Chediak, M.
<strong>Nouvelle anomalie leucocytaire de caractere constitutionnel et familial.</strong>
Rev. Hemat. 7: 362-367, 1952.
[PubMed: 13004553]
</p>
</li>
<li>
<p class="mim-text-font">
De Beer, H. A., Anderson, R., Findlay, G. H.
<strong>Chediak-Higashi syndrome in a &#x27;black&#x27; child: clinical features, immunological studies, and optics of the hair and skin.</strong>
S. Afr. Med. J. 60: 108-112, 1981.
[PubMed: 7256443]
</p>
</li>
<li>
<p class="mim-text-font">
Donohue, W. L., Bain, H. W.
<strong>Chediak-Higashi syndrome, a lethal familial disease with anomalous inclusions in the leukocytes and constitutional stigmata: report of a case with necropsy.</strong>
Pediatrics 20: 416-430, 1957.
[PubMed: 13465231]
</p>
</li>
<li>
<p class="mim-text-font">
Dufourcq-Lagelouse, R., Lambert, N., Duval, M., Viot, G., Vilmer, E., Fischer, A., Prieur, M., de Saint Basile, G.
<strong>Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.</strong>
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[PubMed: 10482950]
[Full Text: https://doi.org/10.1038/sj.ejhg.5200355]
</p>
</li>
<li>
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Efrati, P., Jonas, W.
<strong>Chediak&#x27;s anomaly of leukocytes in malignant lymphoma associated with leukemic manifestations: case report with necropsy.</strong>
Blood 13: 1063-1073, 1958.
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[PubMed: 2841356]
[Full Text: https://doi.org/10.1172/JCI113631]
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<strong>Light and electron microscopy of hepatocytes of cats with Chediak-Higashi syndrome.</strong>
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<strong>Renal lesions in cats with Chediak-Higashi-Steinbrinck syndrome.</strong>
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<p class="mim-text-font">
Higashi, O.
<strong>Congenital gigantism of peroxidase granules: the first case ever reported of qualitative abnormity (sic) of peroxidase.</strong>
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Holcombe, R. F., Strauss, W., Owen, F. L., Boxer, L. A., Warren, R. W., Conley, M. E., Ferrara, J., Leavitt, R. Y., Fauci, A. S., Taylor, B. A., Seidman, J. G.
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Inoue, R., Kondo, N., Motoyoshi, F., Hori, Y., Orii, T.
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Karim, M. A., Nagle, D. L., Kandil, H. H., Burger, J., Moore, K. J., Spritz, R. A.
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<strong>A comparative study of the lesions in cultured fibroblasts of humans and four species of animals with Chediak-Higashi syndrome.</strong>
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New Eng. J. Med. 298: 693-698, 1978.
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Sato, A.
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Sheramata, W., Kott, H. S., Cyr, D. P.
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Arch. Neurol. 25: 289-294, 1971.
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Spencer, W. H., Hogan, M. J.
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Spritz, R. A.
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Arch. Derm. 91: 1-8, 1965.
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Pediat. Res. 14: 901-904, 1980.
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Tay, C. H., Lopez, C. G., Lazarus, A. R.
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Uyama, E., Hirano, T., Ito, K., Nakashima, H., Sugimoto, M., Naito, M., Uchino, M., Ando, M.
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<strong>Reversal of natural killer defect in a patient with Chediak-Higashi syndrome after bone-marrow transplantation. (Letter)</strong>
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White, J. G., Clawson, C. C.
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White, J. G., Clawson, C. C.
<strong>The Chediak-Higashi syndrome, the nature of the giant neutrophil granules and their interactions with cytoplasm and foreign particulates. I. Progressive enlargement of the massive inclusions in mature neutrophils. II. Manifestations of cytoplasmic injury and sequestration. III. Interactions between giant organelles and foreign particulates.</strong>
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Windhorst, D. B., White, J. G., Zelickson, A. S., Clawson, C. C., Dent, P. B., Pollara, B., Good, R. A.
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Windhorst, D. B., Zelickson, A. S., Good, R. A.
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