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Entry
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- #613960 - GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3; CGD3
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- OMIM
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<p>
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<span class="h4">#613960</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/613960"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS306400"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=176&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><a href="https://www.ncbi.nlm.nih.gov/books/NBK99496/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8494" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613960[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=379" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0070194" 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>
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<div><a href="http://www.informatics.jax.org/disease/613960" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<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.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 379<br />
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<strong>DO:</strong> 0070194<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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613960
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3; CGD3
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III<br />
|
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CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III<br />
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GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF4 DEFICIENCY
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/22/229?start=-3&limit=10&highlight=229">
|
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22q12.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Chronic granulomatous disease 3, autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/613960"> 613960 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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NCF4
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601488"> 601488 </a>
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</span>
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</td>
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</tr>
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</tbody>
|
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</table>
|
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/613960" 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>
|
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<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
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|
|
<div class="btn-group">
|
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|
|
<a href="/phenotypicSeries/PS306400" class="btn btn-info" role="button"> Phenotypic Series </a>
|
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|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
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</div>
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|
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<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/613960" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613960" 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>
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<div>
|
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<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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<div>
|
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<div>
|
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<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">
|
|
|
|
- Blepharitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1231722004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1231722004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41446000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41446000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H01.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H01.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H01.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H01.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H01.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H01.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/373" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">373</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/373.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">373.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/373.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">373.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/373.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">373.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005741&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005741</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000498" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000498</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000498" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000498</a>]</span><br /> -
|
|
Conjunctivitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9826008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9826008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H10.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H10.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/372.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">372.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009763&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009763</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000509</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000509</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Perioral eczema <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1396126&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1396126</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011127" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011127</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011127" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011127</a>]</span><br /> -
|
|
Aphthous ulcers <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110426005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110426005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/426965005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">426965005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/427617000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">427617000</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/528.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">528.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038363&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038363</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011107</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0032154" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032154</a>]</span><br /> -
|
|
Thrush <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/107182005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">107182005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79740000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79740000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78048006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78048006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/B37.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">B37.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/B37.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">B37.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/B37" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">B37</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/112.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">112.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/112" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">112</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/112.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">112.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0326586&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0326586</a>, <a href="https://bioportal.bioontology.org/search?q=C0006840&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0006840</a>, <a href="https://bioportal.bioontology.org/search?q=C1299921&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1299921</a>, <a href="https://bioportal.bioontology.org/search?q=C0006849&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0006849</a>]</span><br /> -
|
|
Periodontitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41565005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41565005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K05.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K05.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0031099&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031099</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000704" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000704</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000704" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000704</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Recurrent respiratory infections <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806482</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002205" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002205</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002205" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002205</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Chronic granulomatous colitis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279557&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279557</a>]</span><br /> -
|
|
Diarrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267060006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267060006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62315008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62315008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R19.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R19.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011991</a>, <a href="https://bioportal.bioontology.org/search?q=C2169706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2169706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span><br /> -
|
|
Esophageal ulceration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30811009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30811009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K22.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K22.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K22.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K22.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/530.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">530.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151970&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151970</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004791" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004791</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004791" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004791</a>]</span><br /> -
|
|
Perianal infections and fistula <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393819&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393819</a>]</span><br />
|
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</span>
|
|
</div>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
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<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Recurrent skin infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/736979001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">736979001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853193&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853193</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001581</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001581</a>]</span><br /> -
|
|
Abscesses <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128477000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128477000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44132006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44132006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0000833&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000833</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025615" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025615</a>]</span><br /> -
|
|
Lupus-like lesions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393823&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393823</a>]</span><br /> -
|
|
Cutaneous lesions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393824&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393824</a>]</span><br /> -
|
|
Granulomata <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45647009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45647009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018188&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018188</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032252</a>]</span><br /> -
|
|
Eczema <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43116000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43116000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L30.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L30.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013595&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013595</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000964" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000964</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000964" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000964</a>]</span><br />
|
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|
|
</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> IMMUNOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Recurrent infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/451991000124106" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">451991000124106</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239998&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239998</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002719</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002719</a>]</span><br /> -
|
|
Lymphadenitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19471005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19471005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I88.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I88.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I88.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I88.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024205&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024205</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002840" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002840</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002840" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002840</a>]</span><br /> -
|
|
Staphylococcal infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56038003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56038003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038160&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038160</a>]</span><br /> -
|
|
Neutrophils show defective intracellular NADPH oxidase function <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393820&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393820</a>]</span><br /> -
|
|
Impaired respiratory burst <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393821</a>]</span><br /> -
|
|
Less susceptible to fungal, particularly Candida, infections <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393822</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset usually in first decade<br /> -
|
|
Variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
|
|
Invasive infections are uncommon<br /> -
|
|
Incomplete penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
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|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the neutrophil cytosolic factor 4 gene (NCF4, <a href="/entry/601488#0001">601488.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
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|
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</div>
|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
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|
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|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
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|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Granulomatous disease, chronic
|
|
- <a href="/phenotypicSeries/PS306400">PS306400</a>
|
|
- 6 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1490?start=-3&limit=10&highlight=1490"> 1q25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/233710"> Chronic granulomatous disease 2, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive chronic granulomatous disease-3 (CGD3) is caused by homozygous or compound heterozygous mutation in the NCF4 gene (<a href="/entry/601488">601488</a>), which encodes the p40-phox (phagocyte oxidase) protein, on chromosome 22q12. P40-phox is a subunit of the NADPH oxidase complex.</p>
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<p>Autosomal recessive chronic granulomatous disease-3 (CGD3) is an immunodeficiency disorder characterized by recurrent pyogenic infections and granulomatous inflammation with onset usually in the first decade of life. Most patients present with colitis and features of inflammatory bowel disease. Other common manifestations include lupus-like skin lesions, skin granulomas, Staphylococcal abscesses, oral ulcers, and periodontitis. Patients usually do not have invasive infections and are not markedly susceptible to fungal infections. The disorder results from variable loss of phagocyte superoxide production due to NADPH oxidase dysfunction; it is generally less severe than other genetic types of CGD (summary by <a href="#2" class="mim-tip-reference" title="Matute, J. D., Arias, A. A., Wright, N. A. M., Wrobel, I., Waterhouse, C. C. M., Li, X. J., Marchal, C. C., Stull, N. D., Lewis, D. B., Steele, M., Kellner, J. D., Yu, W., Meroueh, S. O., Nauseef, W. M., Dinauer, M. C. <strong>A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40(phox) and selective defects in neutrophil NADPH oxidase activity.</strong> Blood 114: 3309-3315, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19692703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19692703</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19692703[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2009-07-231498" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19692703">Matute et al., 2009</a>; <a href="#4" class="mim-tip-reference" title="van de Geer, A., Nieto-Patlan, A., Kuhns, D. B., Tool, A. T. J., Arias, A. A., Bouaziz, M., de Boer, M., Franco, J. L., Gazendam, R. P., van Hamme, J. L., van Houdt, M., van Leeuwen, K., and 47 others. <strong>Inherited p40-phox deficiency differs from classic chronic granulomatous disease.</strong> J. Clin. Invest. 128: 3957-3975, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29969437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29969437</a>] [<a href="https://doi.org/10.1172/JCI97116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29969437">van de Geer et al., 2018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=29969437+19692703" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a general phenotypic description and a discussion of genetic heterogeneity of CGD, see the X-linked form (CGDX; <a href="/entry/306400">306400</a>).</p>
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<p><a href="#2" class="mim-tip-reference" title="Matute, J. D., Arias, A. A., Wright, N. A. M., Wrobel, I., Waterhouse, C. C. M., Li, X. J., Marchal, C. C., Stull, N. D., Lewis, D. B., Steele, M., Kellner, J. D., Yu, W., Meroueh, S. O., Nauseef, W. M., Dinauer, M. C. <strong>A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40(phox) and selective defects in neutrophil NADPH oxidase activity.</strong> Blood 114: 3309-3315, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19692703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19692703</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19692703[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2009-07-231498" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19692703">Matute et al. (2009)</a> reported a 3.5-year-old boy who presented with diarrhea, low-grade fever, and perianal rash. He also had perioral eczema and aphthous ulcers. He was found to have chronic granulomatous colitis, with erosions and ulceration of the gastric fundus and colonic mucosa, and multiple small granulomata on colonic biopsy. He had a history of eczema, sinusitis, and recurrent croup. His parents were unaffected. Studies of patient neutrophils showed a selective and substantial defect in NADPH oxidase activity and intracellular superoxide production during phagocytosis. However, extracellular oxidant production in response to soluble agonists was normal. <a href="#2" class="mim-tip-reference" title="Matute, J. D., Arias, A. A., Wright, N. A. M., Wrobel, I., Waterhouse, C. C. M., Li, X. J., Marchal, C. C., Stull, N. D., Lewis, D. B., Steele, M., Kellner, J. D., Yu, W., Meroueh, S. O., Nauseef, W. M., Dinauer, M. C. <strong>A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40(phox) and selective defects in neutrophil NADPH oxidase activity.</strong> Blood 114: 3309-3315, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19692703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19692703</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19692703[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2009-07-231498" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19692703">Matute et al. (2009)</a> noted that this patient had not had infections with opportunistic pathogens characteristic of other forms of chronic granulomatous disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19692703" 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="van de Geer, A., Nieto-Patlan, A., Kuhns, D. B., Tool, A. T. J., Arias, A. A., Bouaziz, M., de Boer, M., Franco, J. L., Gazendam, R. P., van Hamme, J. L., van Houdt, M., van Leeuwen, K., and 47 others. <strong>Inherited p40-phox deficiency differs from classic chronic granulomatous disease.</strong> J. Clin. Invest. 128: 3957-3975, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29969437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29969437</a>] [<a href="https://doi.org/10.1172/JCI97116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29969437">Van de Geer et al. (2018)</a> reported 24 patients from 12 families with CGD3 confirmed by genetic analysis. The families originated from several different countries, including Pakistan, Portugal, Australia, Colombia, Russia, Chile, Kuwait, and Argentina. Five families, including 4 from Pakistan and 1 from Kuwait, were consanguineous. Features among symptomatic individuals were variable, but commonly included recurrent peripheral, usually non invasive infections and hyperinflammation, such as chronic fever. Most patients had onset of symptoms in the first decade, although 3 had onset in the teenage years (11 to 17 years). Four individuals with biallelic NCF4 mutations, who ranged in age from 1 to 10 years, were asymptomatic. Features in symptomatic patients included inflammatory bowel disease with colonic or esophageal granulomata and ulcerations, anal fistula, oral thrush or mucosal lesions, recurrent skin abscesses with Staphylococcus infection, lupus-like skin lesions, eczema, lymphadenitis, blepharitis or conjunctivitis, periodontitis, and recurrent respiratory infections with interstitial inflammation. Invasive infections were rare, but 1 patient had recurrent disseminated histoplasmosis. Most patients received BCG vaccination with no adverse effects. Most patients were negative for autoantibodies, although a few had antinuclear Abs (ANAs) or antineutrophil cytoplasmic Abs (ANCAs). One patient had a total colectomy, and 4 underwent hematopoietic stem cell transplantation. None of the patients had died. PMA-induced DHR oxidation was normal or only mildly impaired. <a href="#4" class="mim-tip-reference" title="van de Geer, A., Nieto-Patlan, A., Kuhns, D. B., Tool, A. T. J., Arias, A. A., Bouaziz, M., de Boer, M., Franco, J. L., Gazendam, R. P., van Hamme, J. L., van Houdt, M., van Leeuwen, K., and 47 others. <strong>Inherited p40-phox deficiency differs from classic chronic granulomatous disease.</strong> J. Clin. Invest. 128: 3957-3975, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29969437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29969437</a>] [<a href="https://doi.org/10.1172/JCI97116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29969437">Van de Geer et al. (2018)</a> concluded that CGD3 represents a milder atypical form of CGD compared to the other genetic types. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29969437" 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>The transmission pattern of CGD3 in the families reported by <a href="#4" class="mim-tip-reference" title="van de Geer, A., Nieto-Patlan, A., Kuhns, D. B., Tool, A. T. J., Arias, A. A., Bouaziz, M., de Boer, M., Franco, J. L., Gazendam, R. P., van Hamme, J. L., van Houdt, M., van Leeuwen, K., and 47 others. <strong>Inherited p40-phox deficiency differs from classic chronic granulomatous disease.</strong> J. Clin. Invest. 128: 3957-3975, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29969437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29969437</a>] [<a href="https://doi.org/10.1172/JCI97116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29969437">van de Geer et al. (2018)</a> was consistent with autosomal recessive inheritance with incomplete or age-dependent penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29969437" 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 boy with CGD3, <a href="#2" class="mim-tip-reference" title="Matute, J. D., Arias, A. A., Wright, N. A. M., Wrobel, I., Waterhouse, C. C. M., Li, X. J., Marchal, C. C., Stull, N. D., Lewis, D. B., Steele, M., Kellner, J. D., Yu, W., Meroueh, S. O., Nauseef, W. M., Dinauer, M. C. <strong>A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40(phox) and selective defects in neutrophil NADPH oxidase activity.</strong> Blood 114: 3309-3315, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19692703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19692703</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19692703[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2009-07-231498" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19692703">Matute et al. (2009)</a> identified compound heterozygous mutations in the NCF4 gene (10-bp dup, <a href="/entry/601488#0001">601488.0001</a> and R105Q, <a href="/entry/601488#0002">601488.0002</a>). In vitro studies of patient neutrophils showed impaired intracellular oxidant production during phagocytosis of serum opsonized S. aureus, although PMA-stimulated superoxide release was normal. <a href="#2" class="mim-tip-reference" title="Matute, J. D., Arias, A. A., Wright, N. A. M., Wrobel, I., Waterhouse, C. C. M., Li, X. J., Marchal, C. C., Stull, N. D., Lewis, D. B., Steele, M., Kellner, J. D., Yu, W., Meroueh, S. O., Nauseef, W. M., Dinauer, M. C. <strong>A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40(phox) and selective defects in neutrophil NADPH oxidase activity.</strong> Blood 114: 3309-3315, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19692703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19692703</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19692703[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2009-07-231498" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19692703">Matute et al. (2009)</a> noted that genomewide association studies (<a href="#3" class="mim-tip-reference" title="Rioux, J. D., Xavier, R. J., Taylor, K. D., Silverberg, M. S., Goyette, P., Huett, A., Green, T., Kuballa, P., Barmada, M. M., Datta, L. W., Shugart, Y. Y., Griffiths, A. M., and 13 others. <strong>Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.</strong> Nature Genet. 39: 596-604, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17435756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17435756</a>] [<a href="https://doi.org/10.1038/ng2032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17435756">Rioux et al., 2007</a>) had identified a SNP in the NCF4 gene (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4821544;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs4821544</a>) that was associated with Crohn disease, suggesting that there may be a relationship between NCF4, phagocytosis-induced oxidant production, and predisposition to inflammatory bowel disease (see IBD, 266600). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17435756+19692703" 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 24 patients from 12 families of various ethnic origins with CGD3, <a href="#4" class="mim-tip-reference" title="van de Geer, A., Nieto-Patlan, A., Kuhns, D. B., Tool, A. T. J., Arias, A. A., Bouaziz, M., de Boer, M., Franco, J. L., Gazendam, R. P., van Hamme, J. L., van Houdt, M., van Leeuwen, K., and 47 others. <strong>Inherited p40-phox deficiency differs from classic chronic granulomatous disease.</strong> J. Clin. Invest. 128: 3957-3975, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29969437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29969437</a>] [<a href="https://doi.org/10.1172/JCI97116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29969437">van de Geer et al. (2018)</a> identified homozygous or compound heterozygous mutations in the NCF4 gene (see, e.g., <a href="/entry/601488#0002">601488.0002</a>-<a href="/entry/601488#0006">601488.0006</a>). The mutations, which were found by exome sequencing or targeted panel sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. There was evidence of age-dependent or incomplete penetrance in 2 families. Mutation types included missense, nonsense, splice site, and a small in-frame deletion. They occurred throughout the gene and all but 1 were absent from the gnomAD database. In vitro functional expression studies in patient-derived cells and EBV-transformed B cells expressing the mutations showed variably impaired production of reactive oxygen species (ROS), indicating dysfunction of the NADPH oxidase complex and a loss-of-function effect. The functional impact depended on the phagocytic cell type and stimulus. Neutrophils and EBV-transformed B cells carrying the mutations showed impaired NADPH oxidase activity. Neutrophils were ineffective against Staphylococcus, had variable activity against E. coli, and retained almost normal defense against fungi. In contrast, NADPH oxidase activity in mononuclear phagocytes was similar to controls. PMA-induced DHR oxidation was normal or only mildly impaired in certain cell types and conditions, reflecting impaired, but not abolished, ROS production. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29969437" 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="#1" class="mim-tip-reference" title="Ellson, C. D., Davidson, K., Ferguson, G. J., O'Connor, R., Stephens, L. R., Hawkins, P. T. <strong>Neutrophils from p40-phox-/- mice exhibit severe defects in NADPH oxidase regulation and oxidant-dependent bacterial killing.</strong> J. Exp. Med. 203: 1927-1937, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16880254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16880254</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16880254[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1084/jem.20052069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16880254">Ellson et al. (2006)</a> generated p40-phox -/- mice, which were healthy and fertile when kept under pathogen-free barrier conditions. Neutrophils of p40-phox -/- mice showed reduced expression of p67-phox and diminished oxidase responses to a number of stimuli. Defective reactive oxygen species production by p40-phox -/- neutrophils in response to Staphylococcus aureus translated into a severe, CGD-like defect in the killing of this organism in vitro and in vivo. <a href="#1" class="mim-tip-reference" title="Ellson, C. D., Davidson, K., Ferguson, G. J., O'Connor, R., Stephens, L. R., Hawkins, P. T. <strong>Neutrophils from p40-phox-/- mice exhibit severe defects in NADPH oxidase regulation and oxidant-dependent bacterial killing.</strong> J. Exp. Med. 203: 1927-1937, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16880254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16880254</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16880254[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1084/jem.20052069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16880254">Ellson et al. (2006)</a> concluded that p40-phox is an essential component in bacterial killing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16880254" 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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Ellson, C. D., Davidson, K., Ferguson, G. J., O'Connor, R., Stephens, L. R., Hawkins, P. T.
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<strong>Neutrophils from p40-phox-/- mice exhibit severe defects in NADPH oxidase regulation and oxidant-dependent bacterial killing.</strong>
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J. Exp. Med. 203: 1927-1937, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16880254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16880254</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16880254[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=16880254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1084/jem.20052069" target="_blank">Full Text</a>]
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Matute, J. D., Arias, A. A., Wright, N. A. M., Wrobel, I., Waterhouse, C. C. M., Li, X. J., Marchal, C. C., Stull, N. D., Lewis, D. B., Steele, M., Kellner, J. D., Yu, W., Meroueh, S. O., Nauseef, W. M., Dinauer, M. C.
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<strong>A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40(phox) and selective defects in neutrophil NADPH oxidase activity.</strong>
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Blood 114: 3309-3315, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19692703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19692703</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19692703[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=19692703" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1182/blood-2009-07-231498" target="_blank">Full Text</a>]
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Rioux, J. D., Xavier, R. J., Taylor, K. D., Silverberg, M. S., Goyette, P., Huett, A., Green, T., Kuballa, P., Barmada, M. M., Datta, L. W., Shugart, Y. Y., Griffiths, A. M., and 13 others.
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<strong>Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.</strong>
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Nature Genet. 39: 596-604, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17435756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17435756</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17435756" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng2032" target="_blank">Full Text</a>]
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van de Geer, A., Nieto-Patlan, A., Kuhns, D. B., Tool, A. T. J., Arias, A. A., Bouaziz, M., de Boer, M., Franco, J. L., Gazendam, R. P., van Hamme, J. L., van Houdt, M., van Leeuwen, K., and 47 others.
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<strong>Inherited p40-phox deficiency differs from classic chronic granulomatous disease.</strong>
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J. Clin. Invest. 128: 3957-3975, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29969437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29969437</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29969437" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI97116" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 07/02/2020
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Cassandra L. Kniffin : 5/11/2011
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carol : 07/06/2020<br>ckniffin : 07/02/2020<br>carol : 05/27/2016<br>carol : 5/27/2016<br>wwang : 5/31/2011<br>wwang : 5/24/2011<br>ckniffin : 5/12/2011
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<strong>#</strong> 613960
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<h3>
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GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3; CGD3
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<em>Alternative titles; symbols</em>
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GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III<br />
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CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III<br />
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GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF4 DEFICIENCY
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<strong>ORPHA:</strong> 379;
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<strong>DO:</strong> 0070194;
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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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22q12.3
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Chronic granulomatous disease 3, autosomal recessive
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613960
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Autosomal recessive
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<span class="mim-font">
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3
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NCF4
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601488
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive chronic granulomatous disease-3 (CGD3) is caused by homozygous or compound heterozygous mutation in the NCF4 gene (601488), which encodes the p40-phox (phagocyte oxidase) protein, on chromosome 22q12. P40-phox is a subunit of the NADPH oxidase complex.</p>
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<strong>Description</strong>
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<p>Autosomal recessive chronic granulomatous disease-3 (CGD3) is an immunodeficiency disorder characterized by recurrent pyogenic infections and granulomatous inflammation with onset usually in the first decade of life. Most patients present with colitis and features of inflammatory bowel disease. Other common manifestations include lupus-like skin lesions, skin granulomas, Staphylococcal abscesses, oral ulcers, and periodontitis. Patients usually do not have invasive infections and are not markedly susceptible to fungal infections. The disorder results from variable loss of phagocyte superoxide production due to NADPH oxidase dysfunction; it is generally less severe than other genetic types of CGD (summary by Matute et al., 2009; van de Geer et al., 2018). </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of CGD, see the X-linked form (CGDX; 306400).</p>
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<strong>Clinical Features</strong>
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<p>Matute et al. (2009) reported a 3.5-year-old boy who presented with diarrhea, low-grade fever, and perianal rash. He also had perioral eczema and aphthous ulcers. He was found to have chronic granulomatous colitis, with erosions and ulceration of the gastric fundus and colonic mucosa, and multiple small granulomata on colonic biopsy. He had a history of eczema, sinusitis, and recurrent croup. His parents were unaffected. Studies of patient neutrophils showed a selective and substantial defect in NADPH oxidase activity and intracellular superoxide production during phagocytosis. However, extracellular oxidant production in response to soluble agonists was normal. Matute et al. (2009) noted that this patient had not had infections with opportunistic pathogens characteristic of other forms of chronic granulomatous disease. </p><p>Van de Geer et al. (2018) reported 24 patients from 12 families with CGD3 confirmed by genetic analysis. The families originated from several different countries, including Pakistan, Portugal, Australia, Colombia, Russia, Chile, Kuwait, and Argentina. Five families, including 4 from Pakistan and 1 from Kuwait, were consanguineous. Features among symptomatic individuals were variable, but commonly included recurrent peripheral, usually non invasive infections and hyperinflammation, such as chronic fever. Most patients had onset of symptoms in the first decade, although 3 had onset in the teenage years (11 to 17 years). Four individuals with biallelic NCF4 mutations, who ranged in age from 1 to 10 years, were asymptomatic. Features in symptomatic patients included inflammatory bowel disease with colonic or esophageal granulomata and ulcerations, anal fistula, oral thrush or mucosal lesions, recurrent skin abscesses with Staphylococcus infection, lupus-like skin lesions, eczema, lymphadenitis, blepharitis or conjunctivitis, periodontitis, and recurrent respiratory infections with interstitial inflammation. Invasive infections were rare, but 1 patient had recurrent disseminated histoplasmosis. Most patients received BCG vaccination with no adverse effects. Most patients were negative for autoantibodies, although a few had antinuclear Abs (ANAs) or antineutrophil cytoplasmic Abs (ANCAs). One patient had a total colectomy, and 4 underwent hematopoietic stem cell transplantation. None of the patients had died. PMA-induced DHR oxidation was normal or only mildly impaired. Van de Geer et al. (2018) concluded that CGD3 represents a milder atypical form of CGD compared to the other genetic types. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<p>The transmission pattern of CGD3 in the families reported by van de Geer et al. (2018) was consistent with autosomal recessive inheritance with incomplete or age-dependent penetrance. </p>
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<strong>Molecular Genetics</strong>
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<p>In a boy with CGD3, Matute et al. (2009) identified compound heterozygous mutations in the NCF4 gene (10-bp dup, 601488.0001 and R105Q, 601488.0002). In vitro studies of patient neutrophils showed impaired intracellular oxidant production during phagocytosis of serum opsonized S. aureus, although PMA-stimulated superoxide release was normal. Matute et al. (2009) noted that genomewide association studies (Rioux et al., 2007) had identified a SNP in the NCF4 gene (rs4821544) that was associated with Crohn disease, suggesting that there may be a relationship between NCF4, phagocytosis-induced oxidant production, and predisposition to inflammatory bowel disease (see IBD, 266600). </p><p>In 24 patients from 12 families of various ethnic origins with CGD3, van de Geer et al. (2018) identified homozygous or compound heterozygous mutations in the NCF4 gene (see, e.g., 601488.0002-601488.0006). The mutations, which were found by exome sequencing or targeted panel sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. There was evidence of age-dependent or incomplete penetrance in 2 families. Mutation types included missense, nonsense, splice site, and a small in-frame deletion. They occurred throughout the gene and all but 1 were absent from the gnomAD database. In vitro functional expression studies in patient-derived cells and EBV-transformed B cells expressing the mutations showed variably impaired production of reactive oxygen species (ROS), indicating dysfunction of the NADPH oxidase complex and a loss-of-function effect. The functional impact depended on the phagocytic cell type and stimulus. Neutrophils and EBV-transformed B cells carrying the mutations showed impaired NADPH oxidase activity. Neutrophils were ineffective against Staphylococcus, had variable activity against E. coli, and retained almost normal defense against fungi. In contrast, NADPH oxidase activity in mononuclear phagocytes was similar to controls. PMA-induced DHR oxidation was normal or only mildly impaired in certain cell types and conditions, reflecting impaired, but not abolished, ROS production. </p>
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<h4>
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<strong>Animal Model</strong>
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<p>Ellson et al. (2006) generated p40-phox -/- mice, which were healthy and fertile when kept under pathogen-free barrier conditions. Neutrophils of p40-phox -/- mice showed reduced expression of p67-phox and diminished oxidase responses to a number of stimuli. Defective reactive oxygen species production by p40-phox -/- neutrophils in response to Staphylococcus aureus translated into a severe, CGD-like defect in the killing of this organism in vitro and in vivo. Ellson et al. (2006) concluded that p40-phox is an essential component in bacterial killing. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Ellson, C. D., Davidson, K., Ferguson, G. J., O'Connor, R., Stephens, L. R., Hawkins, P. T.
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<strong>Neutrophils from p40-phox-/- mice exhibit severe defects in NADPH oxidase regulation and oxidant-dependent bacterial killing.</strong>
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J. Exp. Med. 203: 1927-1937, 2006.
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[PubMed: 16880254]
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[Full Text: https://doi.org/10.1084/jem.20052069]
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Matute, J. D., Arias, A. A., Wright, N. A. M., Wrobel, I., Waterhouse, C. C. M., Li, X. J., Marchal, C. C., Stull, N. D., Lewis, D. B., Steele, M., Kellner, J. D., Yu, W., Meroueh, S. O., Nauseef, W. M., Dinauer, M. C.
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<strong>A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40(phox) and selective defects in neutrophil NADPH oxidase activity.</strong>
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Blood 114: 3309-3315, 2009.
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[PubMed: 19692703]
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[Full Text: https://doi.org/10.1182/blood-2009-07-231498]
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Rioux, J. D., Xavier, R. J., Taylor, K. D., Silverberg, M. S., Goyette, P., Huett, A., Green, T., Kuballa, P., Barmada, M. M., Datta, L. W., Shugart, Y. Y., Griffiths, A. M., and 13 others.
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<strong>Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.</strong>
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Nature Genet. 39: 596-604, 2007.
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[PubMed: 17435756]
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[Full Text: https://doi.org/10.1038/ng2032]
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<p class="mim-text-font">
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van de Geer, A., Nieto-Patlan, A., Kuhns, D. B., Tool, A. T. J., Arias, A. A., Bouaziz, M., de Boer, M., Franco, J. L., Gazendam, R. P., van Hamme, J. L., van Houdt, M., van Leeuwen, K., and 47 others.
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<strong>Inherited p40-phox deficiency differs from classic chronic granulomatous disease.</strong>
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J. Clin. Invest. 128: 3957-3975, 2018.
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[PubMed: 29969437]
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[Full Text: https://doi.org/10.1172/JCI97116]
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Contributors:
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 07/02/2020
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Creation Date:
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Cassandra L. Kniffin : 5/11/2011
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carol : 07/07/2020<br>carol : 07/06/2020<br>ckniffin : 07/02/2020<br>carol : 05/27/2016<br>carol : 5/27/2016<br>wwang : 5/31/2011<br>wwang : 5/24/2011<br>ckniffin : 5/12/2011
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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