3226 lines
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Entry
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- #233690 - GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4; CGD4
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- OMIM
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<p>
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<span class="h4">#233690</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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>
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<li role="presentation">
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<a href="/clinicalSynopsis/233690"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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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="#biochemicalFeatures">Biochemical Features</a>
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<a href="#clinicalManagement">Clinical Management</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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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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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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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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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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<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/8493" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=233690[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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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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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:0070193" 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/233690" 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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<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> 0070193<br />
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">ICD+</a>
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</div>
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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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233690
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</span>
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</span>
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</div>
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</div>
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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, 4; CGD4
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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-NEGATIVE<br />
|
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CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-NEGATIVE<br />
|
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CGD DUE TO DEFICIENCY OF THE ALPHA SUBUNIT OF CYTOCHROME b<br />
|
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CYBA 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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<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/16/730?start=-3&limit=10&highlight=730">
|
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16q24.2
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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 4, 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/233690"> 233690 </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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CYBA
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/608508"> 608508 </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/233690" 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>
|
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</button>
|
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</div>
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|
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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>
|
|
<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>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/233690" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/233690" 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>
|
|
|
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|
|
<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>
|
|
<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>
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
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|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Lung </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pneumonia due to immunodeficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844397&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844397</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/233604007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">233604007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002090" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002090</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hepatic abscesses due to immunodeficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844380&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844380</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27916005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27916005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K75.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K75.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/572.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">572.0</a>]</span><br /> -
|
|
Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spleen </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Perirectal abscesses due to immunodeficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844381&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844381</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91669008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91669008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K61.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K61.1</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Osteomyelitis due to immunodeficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806330&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806330</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60168000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60168000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M86.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M86.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M86" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M86</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/730.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">730.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/730.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">730.20</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002754" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002754</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dermatitis, infectious, due to immunodeficiency Impetigo <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844395&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844395</a>]</span><br /> -
|
|
Eczematoid dermatitis <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 /> -
|
|
Discoid lupus in carriers or adults with mild disease <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844396&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844396</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Cellulitis due to immunodeficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844382&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844382</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128045006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128045006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/385627004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">385627004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L03.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L03.90</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100658" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100658</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
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|
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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">
|
|
|
|
- Bacterial infections, recurrent <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/428875002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">428875002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844383&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844383</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002718</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002718</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/A49.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">A49.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/A49" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">A49</a>]</span><br /> -
|
|
Fungal infections, recurrent <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844384&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844384</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002841" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002841</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3218000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3218000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/B49" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">B49</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/B35-B49" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">B35-B49</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/110-118.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">110-118.99</a>]</span><br /> -
|
|
Absence of bactericidal oxidative 'respiratory burst' in phagocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844385</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002723" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002723</a>]</span><br /> -
|
|
Abscess formation in any organ <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844386</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 /> -
|
|
Lymphadenopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30746006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30746006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R59.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R59.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R59" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R59</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R59.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R59.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/785.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">785.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4282165&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4282165</a>, <a href="https://bioportal.bioontology.org/search?q=C0497156&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0497156</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002716</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002716</a>]</span><br /> -
|
|
Aspergillus infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65553006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65553006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/B44" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">B44</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/B44.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">B44.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/117.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">117.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004030&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004030</a>]</span><br /> -
|
|
Klebsiella infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/721756002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">721756002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022729&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022729</a>]</span><br /> -
|
|
Staphylococcus aureus infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/406602003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">406602003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/A49.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">A49.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1318973&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1318973</a>]</span><br /> -
|
|
E. coli infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71057007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71057007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/B96.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">B96.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/041.49" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">041.49</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014836&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014836</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002740" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002740</a>]</span><br /> -
|
|
Burkholderia cepacia infections <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1610617&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1610617</a>]</span><br /> -
|
|
Serratia marcescens infections <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1096571&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1096571</a>]</span><br /> -
|
|
Tissue biopsy shows granulomas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844387&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844387</a>]</span><br /> -
|
|
Biopsy shows lipid-laden macrophages <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844388&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844388</a>]</span><br />
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</span>
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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> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
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<div style="margin-left: 2em;">
|
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|
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<div>
|
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<span class="mim-font">
|
|
|
|
- Deficiency or absence of cytochrome b(-245) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844390&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844390</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003514" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003514</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003514" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003514</a>]</span><br /> -
|
|
Deficiency or absence of p91-phox (<a href="/entry/300481">300481</a>) protein <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844391&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844391</a>]</span><br /> -
|
|
Deficiency or absence of p22-phox protein <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856257&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856257</a>]</span><br /> -
|
|
Negative nitroblue tetrazolium (NBT) reduction test <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844393</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003203" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003203</a>]</span><br /> -
|
|
Decreased activity of NADPH oxidase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844394</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003206" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003206</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003206" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003206</a>]</span><br />
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</span>
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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">
|
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<strong> MISCELLANEOUS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
|
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|
|
- Onset usually in first decade<br /> -
|
|
Four types of CGD with basically identical clinical phenotypes<br /> -
|
|
X-linked recessive cytochrome b-negative CGD (<a href="/entry/306400">306400</a>)<br /> -
|
|
Autosomal recessive cytochrome b-positive CGD, type I (<a href="/entry/233700">233700</a>)<br /> -
|
|
Autosomal recessive cytochrome b-positive CGD, type II (<a href="/entry/233710">233710</a>)<br />
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|
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</span>
|
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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> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
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<div style="margin-left: 2em;">
|
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|
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<div>
|
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<span class="mim-font">
|
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|
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- Caused by mutation in the cytochrome b(-245) alpha subunit gene (CYBA, <a href="/entry/608508#0001">608508.0001</a>)<br />
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|
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</span>
|
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
|
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
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<div class="row">
|
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
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<h5>
|
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Granulomatous disease, chronic
|
|
- <a href="/phenotypicSeries/PS306400">PS306400</a>
|
|
- 6 Entries
|
|
</h5>
|
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</div>
|
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</div>
|
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|
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<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>
|
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
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<strong>Phenotype</strong>
|
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</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Inheritance</strong>
|
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</th>
|
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<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>
|
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</thead>
|
|
<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/1/1490?start=-3&limit=10&highlight=1490"> 1q25.3 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/233710"> Chronic granulomatous disease 2, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/608515"> NCF2 </a>
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<a href="/entry/608515"> 608515 </a>
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<a href="/entry/233700"> Chronic granulomatous disease 1, autosomal recessive </a>
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<a href="/entry/233690"> Chronic granulomatous disease 4, autosomal recessive </a>
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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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<a href="/entry/233690"> 233690 </a>
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<a href="/entry/608508"> 608508 </a>
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<a href="/entry/618935"> Chronic granulomatous disease 5, autosomal recessive </a>
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<a href="/geneMap/22/229?start=-3&limit=10&highlight=229"> 22q12.3 </a>
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<a href="/entry/613960"> Chronic granulomatous disease 3, autosomal recessive </a>
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<a href="/entry/601488"> NCF4 </a>
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<a href="/entry/601488"> 601488 </a>
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<a href="/entry/306400"> Chronic granulomatous disease, X-linked </a>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/306400"> 306400 </a>
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<a href="/entry/300481"> CYBB </a>
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<a href="/entry/300481"> 300481 </a>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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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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<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-4 (CGD4) is caused by homozygous or compound heterozygous mutation in the CYBA gene (<a href="/entry/608508">608508</a>), which encodes the p22-phox protein, on chromosome 16q24.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of chronic granulomatous disease, see X-linked CGD (CGDX; <a href="/entry/306400">306400</a>).</p>
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<p>Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the NADPH oxidase enzyme complex which generates the microbicidal 'respiratory burst.'</p>
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<p><a href="#1" class="mim-tip-reference" title="Baehner, R. L., Nathan, D. G. <strong>Quantitative nitroblue tetrazolium test in chronic granulomatous disease.</strong> New Eng. J. Med. 278: 971-976, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4384563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4384563</a>] [<a href="https://doi.org/10.1056/NEJM196805022781801" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4384563">Baehner and Nathan (1968)</a> observed a 17-year-old female born of first cousins who showed a clinical course and leukocyte behavior in vitro like those in affected males with X-linked CGD. Chromosomes were normal. The nitroblue tetrazolium (NBT) test of leukocytes was normal in all relatives. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4384563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Yamada, M., Ariga, T., Kawamura, N., Ohtsu, M., Imajoh-Ohmi, S., Ohshika, E., Tatsuzawa, O., Kobayashi, K., Sakiyama, Y. <strong>Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients.</strong> Brit. J. Haemat. 108: 511-517, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10759707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10759707</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2000.01857.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10759707">Yamada et al. (2000)</a> reported a 33-year-old Japanese woman with cytochrome b-negative CGD who had recurrent pneumonia and osteomyelitis caused by various bacteria and Aspergillus. At the age of 33 years, she had renal insufficiency as a result of the nephrotoxic side effects of antifungal drugs and was being treated with hemodialysis. Her parents were related. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10759707" 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="#8" class="mim-tip-reference" title="Stasia, M. J., Bordigoni, P., Martel, C., Morel, F. <strong>A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22-0) leading to the activation of a cryptic splice site in intron 4.</strong> Hum. Genet. 110: 444-450, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12073015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12073015</a>] [<a href="https://doi.org/10.1007/s00439-002-0720-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12073015">Stasia et al. (2002)</a> reported a 5-year-old girl who presented with recurrent bacterial infections and mycosis since the first month of life. The parents were unrelated but lived in a small isolated village in which autarky was said to have existed for several generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12073015" 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="#9" class="mim-tip-reference" title="Teimourian, S., Zomorodian, E., Badalzadeh, M., Pouya, A., Kannengiesser, C., Mansouri, D., Cheraghi, T., Parvaneh, N. <strong>Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.</strong> Brit. J. Haemat. 141: 848-851, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18422995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18422995</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2008.07148.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18422995">Teimourian et al. (2008)</a> reported 8 patients from 7 unrelated consanguineous Iranian families with cytochrome b-negative CGD. Patients had a clinical history of recurrent severe infections, including pneumonia, lymphadenitis, liver abscesses, and pyodermatitis. Four of the patients presented before 1 year of age. Genetic analysis identified homozygous mutation or deletion of the CYBA gene (see, e.g., <a href="/entry/608508#0012">608508.0012</a>) in all patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18422995" 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>By somatic cell hybridization, <a href="#10" class="mim-tip-reference" title="Weening, R. S., Corbeel, L., de Boer, M., Lutter, R., van Zwieten, R., Hamers, M. N., Roos, D. <strong>Cytochrome b deficiency in an autosomal form of chronic granulomatous disease: a third form of chronic granulomatous disease recognized by monocyte hybridization.</strong> J. Clin. Invest. 75: 915-920, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3980731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3980731</a>] [<a href="https://doi.org/10.1172/JCI111792" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3980731">Weening et al. (1985)</a> demonstrated an autosomal form of CGD in which cytochrome b was diminished. Among the children of first-cousin parents, 2 sisters and a brother had CGD with granulocytes that did not respond with a metabolic burst to various stimuli and did not kill catalase-positive microorganisms. The magnitude of the cytochrome b signal in the optical spectrum of these leukocytes was less than 4% of normal; the amount of covalently bound flavin was normal. Autosomal recessive inheritance was confirmed; the granulocytes of both parents showed intermediate levels of cytochrome b signal, low-normal or subnormal oxidative reactions during stimulation, and no mosaicism in the stimulated NBT slide test. When monocytes from these patients were fused either with monocytes from a male with X-linked cytochrome b-negative CGD or with monocytes from a male with autosomal cytochrome b-positive CGD, the hybrid cells showed NBT reductase activity after stimulation with PMA. This complementation required protein synthesis. <a href="#10" class="mim-tip-reference" title="Weening, R. S., Corbeel, L., de Boer, M., Lutter, R., van Zwieten, R., Hamers, M. N., Roos, D. <strong>Cytochrome b deficiency in an autosomal form of chronic granulomatous disease: a third form of chronic granulomatous disease recognized by monocyte hybridization.</strong> J. Clin. Invest. 75: 915-920, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3980731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3980731</a>] [<a href="https://doi.org/10.1172/JCI111792" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3980731">Weening et al. (1985)</a> concluded that the expression of cytochrome b in human phagocytes is coded by at least 2 loci, one autosomal and one X-linked. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3980731" 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="#7" class="mim-tip-reference" title="Parkos, C. A., Dinauer, M. C., Jesaitis, A. J., Orkin, S. H., Curnutte, J. T. <strong>Absence of both the 91kD and 22kD subunits of human neutrophil cytochrome b in two genetic forms of chronic granulomatous disease.</strong> Blood 73: 1416-1420, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2713485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2713485</a>]" pmid="2713485">Parkos et al. (1989)</a> found that neither cytochrome b subunit, p22-phox or p91-phox (<a href="/entry/300481">300481</a>), could be detected in neutrophils from 3 patients with X-linked cytochrome b-negative CGD or in 4 patients with autosomal cytochrome b-negative CGD. The authors concluded that the stable expression of either of the 2 subunits is dependent upon the other. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2713485" 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="#5" class="mim-tip-reference" title="Liese, J., Kloos, S., Jendrossek, V., Petropoulou, T., Wintergerst, U., Notheis, G., Gahr, M., Belohradsky, B. H. <strong>Long-term follow-up and outcome of 39 patients with chronic granulomatous disease.</strong> J. Pediat. 137: 687-693, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11060536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11060536</a>] [<a href="https://doi.org/10.1067/mpd.2000.109112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11060536">Liese et al. (2000)</a> evaluated the effect of antibiotic and antifungal long-term prophylaxis on the prognosis of CGD in 39 patients with different subtypes, both X-linked and autosomal recessive. Antibiotic prophylaxis with TMP-SMX significantly decreased the incidence of severe infections in patients with complete loss of cytochrome b activity but had no significant effect in patients with the other subtypes. Eight of the patients with complete absence of cytochrome b activity were also given itraconazole, and none developed fungal infections over 15.5 patient-years, whereas patients of all subtypes who received only antibiotics showed an increase in severe fungal infections. The different subtypes were also analyzed for age at diagnosis, age at first infection, and long-term survival. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11060536" 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 CGD4 in the families reported by <a href="#4" class="mim-tip-reference" title="Dinauer, M. C., Pierce, E. A., Bruns, G. A. P., Curnutte, J. T., Orkin, S. H. <strong>Human neutrophil cytochrome b light chain (p22-phox): gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.</strong> J. Clin. Invest. 86: 1729-1737, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2243141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2243141</a>] [<a href="https://doi.org/10.1172/JCI114898" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2243141">Dinauer et al. (1990)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2243141" 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="#2" class="mim-tip-reference" title="Clark, R. A., Malech, H. L., Gallin, J. I., Nunoi, H., Volpp, B. D., Pearson, D. W., Nauseef, W. M., Curnutte, J. T. <strong>Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH oxidase system.</strong> New Eng. J. Med. 321: 647-652, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2770793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2770793</a>] [<a href="https://doi.org/10.1056/NEJM198909073211005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2770793">Clark et al. (1989)</a> concluded that the form of CGD caused by mutation in the CYBA gene represents about 5% of all CGD cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2770793" 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 3 patients with autosomal recessive cytochrome b-negative CGD, <a href="#4" class="mim-tip-reference" title="Dinauer, M. C., Pierce, E. A., Bruns, G. A. P., Curnutte, J. T., Orkin, S. H. <strong>Human neutrophil cytochrome b light chain (p22-phox): gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.</strong> J. Clin. Invest. 86: 1729-1737, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2243141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2243141</a>] [<a href="https://doi.org/10.1172/JCI114898" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2243141">Dinauer et al. (1990)</a> identified 4 mutations in the CYBA gene (<a href="/entry/608508#0001">608508.0001</a>-<a href="/entry/608508#0004">608508.0004</a>). One of the patients had been described by <a href="#1" class="mim-tip-reference" title="Baehner, R. L., Nathan, D. G. <strong>Quantitative nitroblue tetrazolium test in chronic granulomatous disease.</strong> New Eng. J. Med. 278: 971-976, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4384563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4384563</a>] [<a href="https://doi.org/10.1056/NEJM196805022781801" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4384563">Baehner and Nathan (1968)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4384563+2243141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Yamada, M., Ariga, T., Kawamura, N., Ohtsu, M., Imajoh-Ohmi, S., Ohshika, E., Tatsuzawa, O., Kobayashi, K., Sakiyama, Y. <strong>Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients.</strong> Brit. J. Haemat. 108: 511-517, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10759707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10759707</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2000.01857.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10759707">Yamada et al. (2000)</a> performed mutation analysis on 3 female patients with cytochrome b-negative CGD and found 2 novel mutations in the CYBA gene. One patient with the severe phenotype had a homozygous nonsense mutation in exon 1 (<a href="/entry/608508#0009">608508.0009</a>); the other 2 patients with mild phenotypes shared the same homozygous missense mutation in exon 2 (<a href="/entry/608508#0010">608508.0010</a>). The latter 2 patients, but not the first, were demonstrated to have detectable p22-phox expression and significant granulocyte respiratory burst activity, consistent with the milder phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10759707" 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 a 5-year-old girl with cytochrome b-negative CGD, <a href="#8" class="mim-tip-reference" title="Stasia, M. J., Bordigoni, P., Martel, C., Morel, F. <strong>A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22-0) leading to the activation of a cryptic splice site in intron 4.</strong> Hum. Genet. 110: 444-450, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12073015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12073015</a>] [<a href="https://doi.org/10.1007/s00439-002-0720-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12073015">Stasia et al. (2002)</a> identified a mutation in the CYBA gene (<a href="/entry/608508#0011">608508.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12073015" 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="#6" class="mim-tip-reference" title="Nakano, Y., Longo-Guess, C. M., Bergstrom, D. E., Nauseef, W. M., Jones, S. M., Banfi, B. <strong>Mutation of the Cyba gene encoding p22(phox) causes vestibular and immune defects in mice.</strong> J. Clin. Invest. 118: 1176-1185, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18292807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18292807</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18292807[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/10.1172/JCI33835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18292807">Nakano et al. (2008)</a> found that induced-mutant nmf333 mice were deficient in p22-phox protein due to a tyr121-to-his (Y121H) mutation in the Cyba gene. Homozygous mutant mice showed chronic granulomatous disease characterized by absence of superoxide production in phagocytes and complete absence of NADPH oxidase activity. The mutant mice were highly susceptible to fatal necrotizing B. cepacia pneumonia. In addition, mutant mice showed a severe balance disorder associated with complete absence of otoconia in the utricles and saccules of the inner ear. Transgenic expression of wildtype Cyba rescued both phenotypes. Studies on wildtype mice found Cyba expression in the endolymphatic ducts of the embryonic inner ear, which decreased by postnatal day 12. Based on these findings, <a href="#6" class="mim-tip-reference" title="Nakano, Y., Longo-Guess, C. M., Bergstrom, D. E., Nauseef, W. M., Jones, S. M., Banfi, B. <strong>Mutation of the Cyba gene encoding p22(phox) causes vestibular and immune defects in mice.</strong> J. Clin. Invest. 118: 1176-1185, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18292807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18292807</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18292807[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/10.1172/JCI33835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18292807">Nakano et al. (2008)</a> proposed that NOX activity in the endolymph of the embryonic inner ear regulates local ionic conditions and pH, which may favor the crystallization of calcium carbonate and thereby promote the formation of otoconia. However, the authors noted that balance disorders had not been described in humans with CYBA-associated disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18292807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#de1992" class="mim-tip-reference" title="de Boer, M., de Klein, A., Hossle, J.-P., Seger, R., Corbeel, L., Weening, R. S., Roos, D. <strong>Cytochrome b(558)-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b(558) light chain of the NADPH oxidase (p22-phox).</strong> Am. J. Hum. Genet. 51: 1127-1135, 1992.">de Boer et al. (1992)</a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4384563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4384563</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4384563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH oxidase system.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2770793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2770793</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2770793" 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/10.1056/NEJM198909073211005" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="de Boer1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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de Boer, M., de Klein, A., Hossle, J.-P., Seger, R., Corbeel, L., Weening, R. S., Roos, D.
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<strong>Cytochrome b(558)-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b(558) light chain of the NADPH oxidase (p22-phox).</strong>
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Am. J. Hum. Genet. 51: 1127-1135, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1415254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1415254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1415254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<a id="4" class="mim-anchor"></a>
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<a id="Dinauer1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Dinauer, M. C., Pierce, E. A., Bruns, G. A. P., Curnutte, J. T., Orkin, S. H.
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<strong>Human neutrophil cytochrome b light chain (p22-phox): gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.</strong>
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J. Clin. Invest. 86: 1729-1737, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2243141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2243141</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2243141" 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/JCI114898" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Liese2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liese, J., Kloos, S., Jendrossek, V., Petropoulou, T., Wintergerst, U., Notheis, G., Gahr, M., Belohradsky, B. H.
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<strong>Long-term follow-up and outcome of 39 patients with chronic granulomatous disease.</strong>
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J. Pediat. 137: 687-693, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11060536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11060536</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11060536" 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/10.1067/mpd.2000.109112" target="_blank">Full Text</a>]
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<a id="Nakano2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nakano, Y., Longo-Guess, C. M., Bergstrom, D. E., Nauseef, W. M., Jones, S. M., Banfi, B.
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<strong>Mutation of the Cyba gene encoding p22(phox) causes vestibular and immune defects in mice.</strong>
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J. Clin. Invest. 118: 1176-1185, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18292807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18292807</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18292807[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=18292807" 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/JCI33835" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Parkos1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Parkos, C. A., Dinauer, M. C., Jesaitis, A. J., Orkin, S. H., Curnutte, J. T.
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<strong>Absence of both the 91kD and 22kD subunits of human neutrophil cytochrome b in two genetic forms of chronic granulomatous disease.</strong>
|
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Blood 73: 1416-1420, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2713485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2713485</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2713485" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Stasia2002" class="mim-anchor"></a>
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<p class="mim-text-font">
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Stasia, M. J., Bordigoni, P., Martel, C., Morel, F.
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<strong>A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22-0) leading to the activation of a cryptic splice site in intron 4.</strong>
|
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Hum. Genet. 110: 444-450, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12073015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12073015</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12073015" 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/10.1007/s00439-002-0720-8" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Teimourian2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Teimourian, S., Zomorodian, E., Badalzadeh, M., Pouya, A., Kannengiesser, C., Mansouri, D., Cheraghi, T., Parvaneh, N.
|
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<strong>Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.</strong>
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Brit. J. Haemat. 141: 848-851, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18422995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18422995</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18422995" 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/10.1111/j.1365-2141.2008.07148.x" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Weening1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weening, R. S., Corbeel, L., de Boer, M., Lutter, R., van Zwieten, R., Hamers, M. N., Roos, D.
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<strong>Cytochrome b deficiency in an autosomal form of chronic granulomatous disease: a third form of chronic granulomatous disease recognized by monocyte hybridization.</strong>
|
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J. Clin. Invest. 75: 915-920, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3980731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3980731</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3980731" 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/JCI111792" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Yamada2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yamada, M., Ariga, T., Kawamura, N., Ohtsu, M., Imajoh-Ohmi, S., Ohshika, E., Tatsuzawa, O., Kobayashi, K., Sakiyama, Y.
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<strong>Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients.</strong>
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Brit. J. Haemat. 108: 511-517, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10759707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10759707</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10759707" 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/10.1046/j.1365-2141.2000.01857.x" target="_blank">Full Text</a>]
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</ol>
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<br />
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/30/2008
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - reorganized : 3/12/2004<br>Victor A. McKusick - updated : 6/7/2002<br>Victor A. McKusick - updated : 7/13/2000<br>Victor A. McKusick - updated : 9/1/1999<br>Lori M. Kelman - updated : 3/31/1997
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 05/07/2024
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<span class="mim-text-font">
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carol : 07/07/2020<br>carol : 07/06/2020<br>ckniffin : 07/02/2020<br>carol : 05/27/2016<br>terry : 6/3/2011<br>alopez : 2/9/2009<br>alopez : 2/5/2009<br>wwang : 1/23/2009<br>ckniffin : 1/15/2009<br>wwang : 6/17/2008<br>ckniffin : 5/30/2008<br>carol : 3/12/2004<br>terry : 3/12/2004<br>ckniffin : 3/12/2004<br>ckniffin : 3/11/2004<br>alopez : 6/12/2002<br>terry : 6/7/2002<br>carol : 9/11/2001<br>alopez : 7/21/2000<br>terry : 7/13/2000<br>alopez : 11/18/1999<br>carol : 9/23/1999<br>jlewis : 9/23/1999<br>terry : 9/1/1999<br>alopez : 3/31/1997<br>alopez : 3/31/1997<br>mimadm : 2/19/1994<br>carol : 2/18/1993<br>carol : 11/12/1992<br>supermim : 3/16/1992<br>carol : 1/27/1992<br>carol : 1/3/1992
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</span>
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<span class="mim-font">
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<strong>#</strong> 233690
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<h3>
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<span class="mim-font">
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GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4; CGD4
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</h3>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE<br />
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CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-NEGATIVE<br />
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CGD DUE TO DEFICIENCY OF THE ALPHA SUBUNIT OF CYTOCHROME b<br />
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CYBA DEFICIENCY
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<strong>ORPHA:</strong> 379;
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<strong>DO:</strong> 0070193;
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<br />
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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<div>
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<table class="table table-bordered table-condensed 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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</tr>
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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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16q24.2
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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 4, 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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233690
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</span>
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</td>
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Autosomal recessive
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<span class="mim-font">
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3
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CYBA
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<span class="mim-font">
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608508
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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-4 (CGD4) is caused by homozygous or compound heterozygous mutation in the CYBA gene (608508), which encodes the p22-phox protein, on chromosome 16q24.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of chronic granulomatous disease, see X-linked CGD (CGDX; 306400).</p>
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<strong>Description</strong>
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<p>Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the NADPH oxidase enzyme complex which generates the microbicidal 'respiratory burst.'</p>
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<strong>Clinical Features</strong>
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<p>Baehner and Nathan (1968) observed a 17-year-old female born of first cousins who showed a clinical course and leukocyte behavior in vitro like those in affected males with X-linked CGD. Chromosomes were normal. The nitroblue tetrazolium (NBT) test of leukocytes was normal in all relatives. </p><p>Yamada et al. (2000) reported a 33-year-old Japanese woman with cytochrome b-negative CGD who had recurrent pneumonia and osteomyelitis caused by various bacteria and Aspergillus. At the age of 33 years, she had renal insufficiency as a result of the nephrotoxic side effects of antifungal drugs and was being treated with hemodialysis. Her parents were related. </p><p>Stasia et al. (2002) reported a 5-year-old girl who presented with recurrent bacterial infections and mycosis since the first month of life. The parents were unrelated but lived in a small isolated village in which autarky was said to have existed for several generations. </p><p>Teimourian et al. (2008) reported 8 patients from 7 unrelated consanguineous Iranian families with cytochrome b-negative CGD. Patients had a clinical history of recurrent severe infections, including pneumonia, lymphadenitis, liver abscesses, and pyodermatitis. Four of the patients presented before 1 year of age. Genetic analysis identified homozygous mutation or deletion of the CYBA gene (see, e.g., 608508.0012) in all patients. </p>
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<h4>
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<strong>Biochemical Features</strong>
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<p>By somatic cell hybridization, Weening et al. (1985) demonstrated an autosomal form of CGD in which cytochrome b was diminished. Among the children of first-cousin parents, 2 sisters and a brother had CGD with granulocytes that did not respond with a metabolic burst to various stimuli and did not kill catalase-positive microorganisms. The magnitude of the cytochrome b signal in the optical spectrum of these leukocytes was less than 4% of normal; the amount of covalently bound flavin was normal. Autosomal recessive inheritance was confirmed; the granulocytes of both parents showed intermediate levels of cytochrome b signal, low-normal or subnormal oxidative reactions during stimulation, and no mosaicism in the stimulated NBT slide test. When monocytes from these patients were fused either with monocytes from a male with X-linked cytochrome b-negative CGD or with monocytes from a male with autosomal cytochrome b-positive CGD, the hybrid cells showed NBT reductase activity after stimulation with PMA. This complementation required protein synthesis. Weening et al. (1985) concluded that the expression of cytochrome b in human phagocytes is coded by at least 2 loci, one autosomal and one X-linked. </p><p>Parkos et al. (1989) found that neither cytochrome b subunit, p22-phox or p91-phox (300481), could be detected in neutrophils from 3 patients with X-linked cytochrome b-negative CGD or in 4 patients with autosomal cytochrome b-negative CGD. The authors concluded that the stable expression of either of the 2 subunits is dependent upon the other. </p>
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<strong>Clinical Management</strong>
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<p>Liese et al. (2000) evaluated the effect of antibiotic and antifungal long-term prophylaxis on the prognosis of CGD in 39 patients with different subtypes, both X-linked and autosomal recessive. Antibiotic prophylaxis with TMP-SMX significantly decreased the incidence of severe infections in patients with complete loss of cytochrome b activity but had no significant effect in patients with the other subtypes. Eight of the patients with complete absence of cytochrome b activity were also given itraconazole, and none developed fungal infections over 15.5 patient-years, whereas patients of all subtypes who received only antibiotics showed an increase in severe fungal infections. The different subtypes were also analyzed for age at diagnosis, age at first infection, and long-term survival. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of CGD4 in the families reported by Dinauer et al. (1990) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>Clark et al. (1989) concluded that the form of CGD caused by mutation in the CYBA gene represents about 5% of all CGD cases. </p><p>In 3 patients with autosomal recessive cytochrome b-negative CGD, Dinauer et al. (1990) identified 4 mutations in the CYBA gene (608508.0001-608508.0004). One of the patients had been described by Baehner and Nathan (1968). </p><p>Yamada et al. (2000) performed mutation analysis on 3 female patients with cytochrome b-negative CGD and found 2 novel mutations in the CYBA gene. One patient with the severe phenotype had a homozygous nonsense mutation in exon 1 (608508.0009); the other 2 patients with mild phenotypes shared the same homozygous missense mutation in exon 2 (608508.0010). The latter 2 patients, but not the first, were demonstrated to have detectable p22-phox expression and significant granulocyte respiratory burst activity, consistent with the milder phenotype. </p><p>In a 5-year-old girl with cytochrome b-negative CGD, Stasia et al. (2002) identified a mutation in the CYBA gene (608508.0011). </p>
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<h4>
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<strong>Animal Model</strong>
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<p>Nakano et al. (2008) found that induced-mutant nmf333 mice were deficient in p22-phox protein due to a tyr121-to-his (Y121H) mutation in the Cyba gene. Homozygous mutant mice showed chronic granulomatous disease characterized by absence of superoxide production in phagocytes and complete absence of NADPH oxidase activity. The mutant mice were highly susceptible to fatal necrotizing B. cepacia pneumonia. In addition, mutant mice showed a severe balance disorder associated with complete absence of otoconia in the utricles and saccules of the inner ear. Transgenic expression of wildtype Cyba rescued both phenotypes. Studies on wildtype mice found Cyba expression in the endolymphatic ducts of the embryonic inner ear, which decreased by postnatal day 12. Based on these findings, Nakano et al. (2008) proposed that NOX activity in the endolymph of the embryonic inner ear regulates local ionic conditions and pH, which may favor the crystallization of calcium carbonate and thereby promote the formation of otoconia. However, the authors noted that balance disorders had not been described in humans with CYBA-associated disease. </p>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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de Boer et al. (1992)
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</span>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Baehner, R. L., Nathan, D. G.
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<strong>Quantitative nitroblue tetrazolium test in chronic granulomatous disease.</strong>
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New Eng. J. Med. 278: 971-976, 1968.
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[PubMed: 4384563]
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[Full Text: https://doi.org/10.1056/NEJM196805022781801]
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</p>
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<p class="mim-text-font">
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Clark, R. A., Malech, H. L., Gallin, J. I., Nunoi, H., Volpp, B. D., Pearson, D. W., Nauseef, W. M., Curnutte, J. T.
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<strong>Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH oxidase system.</strong>
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New Eng. J. Med. 321: 647-652, 1989.
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[PubMed: 2770793]
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[Full Text: https://doi.org/10.1056/NEJM198909073211005]
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<p class="mim-text-font">
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de Boer, M., de Klein, A., Hossle, J.-P., Seger, R., Corbeel, L., Weening, R. S., Roos, D.
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<strong>Cytochrome b(558)-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b(558) light chain of the NADPH oxidase (p22-phox).</strong>
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Am. J. Hum. Genet. 51: 1127-1135, 1992.
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[PubMed: 1415254]
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<p class="mim-text-font">
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Dinauer, M. C., Pierce, E. A., Bruns, G. A. P., Curnutte, J. T., Orkin, S. H.
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<strong>Human neutrophil cytochrome b light chain (p22-phox): gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.</strong>
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J. Clin. Invest. 86: 1729-1737, 1990.
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[PubMed: 2243141]
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[Full Text: https://doi.org/10.1172/JCI114898]
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Liese, J., Kloos, S., Jendrossek, V., Petropoulou, T., Wintergerst, U., Notheis, G., Gahr, M., Belohradsky, B. H.
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<strong>Long-term follow-up and outcome of 39 patients with chronic granulomatous disease.</strong>
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J. Pediat. 137: 687-693, 2000.
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[PubMed: 11060536]
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[Full Text: https://doi.org/10.1067/mpd.2000.109112]
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<p class="mim-text-font">
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Nakano, Y., Longo-Guess, C. M., Bergstrom, D. E., Nauseef, W. M., Jones, S. M., Banfi, B.
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<strong>Mutation of the Cyba gene encoding p22(phox) causes vestibular and immune defects in mice.</strong>
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J. Clin. Invest. 118: 1176-1185, 2008.
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[PubMed: 18292807]
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[Full Text: https://doi.org/10.1172/JCI33835]
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<li>
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<p class="mim-text-font">
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Parkos, C. A., Dinauer, M. C., Jesaitis, A. J., Orkin, S. H., Curnutte, J. T.
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<strong>Absence of both the 91kD and 22kD subunits of human neutrophil cytochrome b in two genetic forms of chronic granulomatous disease.</strong>
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Blood 73: 1416-1420, 1989.
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[PubMed: 2713485]
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<p class="mim-text-font">
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Stasia, M. J., Bordigoni, P., Martel, C., Morel, F.
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<strong>A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22-0) leading to the activation of a cryptic splice site in intron 4.</strong>
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Hum. Genet. 110: 444-450, 2002.
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[PubMed: 12073015]
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[Full Text: https://doi.org/10.1007/s00439-002-0720-8]
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<li>
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<p class="mim-text-font">
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Teimourian, S., Zomorodian, E., Badalzadeh, M., Pouya, A., Kannengiesser, C., Mansouri, D., Cheraghi, T., Parvaneh, N.
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<strong>Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.</strong>
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Brit. J. Haemat. 141: 848-851, 2008.
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[PubMed: 18422995]
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[Full Text: https://doi.org/10.1111/j.1365-2141.2008.07148.x]
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<p class="mim-text-font">
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Weening, R. S., Corbeel, L., de Boer, M., Lutter, R., van Zwieten, R., Hamers, M. N., Roos, D.
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<strong>Cytochrome b deficiency in an autosomal form of chronic granulomatous disease: a third form of chronic granulomatous disease recognized by monocyte hybridization.</strong>
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J. Clin. Invest. 75: 915-920, 1985.
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[PubMed: 3980731]
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[Full Text: https://doi.org/10.1172/JCI111792]
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</li>
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<li>
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<p class="mim-text-font">
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Yamada, M., Ariga, T., Kawamura, N., Ohtsu, M., Imajoh-Ohmi, S., Ohshika, E., Tatsuzawa, O., Kobayashi, K., Sakiyama, Y.
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<strong>Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients.</strong>
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Brit. J. Haemat. 108: 511-517, 2000.
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[PubMed: 10759707]
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[Full Text: https://doi.org/10.1046/j.1365-2141.2000.01857.x]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Cassandra L. Kniffin - updated : 5/30/2008<br>Cassandra L. Kniffin - reorganized : 3/12/2004<br>Victor A. McKusick - updated : 6/7/2002<br>Victor A. McKusick - updated : 7/13/2000<br>Victor A. McKusick - updated : 9/1/1999<br>Lori M. Kelman - updated : 3/31/1997
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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Edit History:
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carol : 05/07/2024<br>carol : 07/07/2020<br>carol : 07/06/2020<br>ckniffin : 07/02/2020<br>carol : 05/27/2016<br>terry : 6/3/2011<br>alopez : 2/9/2009<br>alopez : 2/5/2009<br>wwang : 1/23/2009<br>ckniffin : 1/15/2009<br>wwang : 6/17/2008<br>ckniffin : 5/30/2008<br>carol : 3/12/2004<br>terry : 3/12/2004<br>ckniffin : 3/12/2004<br>ckniffin : 3/11/2004<br>alopez : 6/12/2002<br>terry : 6/7/2002<br>carol : 9/11/2001<br>alopez : 7/21/2000<br>terry : 7/13/2000<br>alopez : 11/18/1999<br>carol : 9/23/1999<br>jlewis : 9/23/1999<br>terry : 9/1/1999<br>alopez : 3/31/1997<br>alopez : 3/31/1997<br>mimadm : 2/19/1994<br>carol : 2/18/1993<br>carol : 11/12/1992<br>supermim : 3/16/1992<br>carol : 1/27/1992<br>carol : 1/3/1992
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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