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Entry
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- #233700 - GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1; CGD1
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- OMIM
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<p>
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<span class="h4">#233700</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/233700"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS306400"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#pathogenesis">Pathogenesis</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="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#heterogeneity">Heterogeneity</a>
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<a href="#geneTherapy">Gene Therapy</a>
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<a href="#history">History</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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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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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/7976" 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=233700[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 panel-default" style="margin-top: 0px; border-radius: 0px">
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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:0070192" 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/233700" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 379<br />
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<strong>DO:</strong> 0070192<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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233700
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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, 1; CGD1
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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>
|
|
<span class="mim-font">
|
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GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I<br />
|
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CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE I<br />
|
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GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF1 DEFICIENCY<br />
|
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NEUTROPHIL CYTOSOL FACTOR 1 DEFICIENCY<br />
|
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NCF1 DEFICIENCY<br />
|
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SOLUBLE OXIDASE COMPONENT II DEFICIENCY<br />
|
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SOC2 DEFICIENCY<br />
|
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p47-PHOX 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">
|
|
<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/7/340?start=-3&limit=10&highlight=340">
|
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7q11.23
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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 1, 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/233700"> 233700 </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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NCF1
|
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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/608512"> 608512 </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 ">
|
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<a href="/clinicalSynopsis/233700" 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')">
|
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<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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<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')">
|
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<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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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/233700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/233700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
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<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 />
|
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</div>
|
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|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<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 />
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</span>
|
|
</div>
|
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|
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</div>
|
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|
|
</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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|
|
|
|
|
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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>
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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> IMMUNOLOGY </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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- 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>
|
|
<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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|
|
- Presence of cytochrome b(-245) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856246&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856246</a>]</span><br /> -
|
|
Deficiency or absence of p47-phox protein (type I) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856252&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856252</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">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- 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-negative CGD (<a href="/entry/233690">233690</a>)<br /> -
|
|
Autosomal recessive cytochrome b-positive CGD, type I<br /> -
|
|
Autosomal recessive cytochrome b-positive CGD, type II (<a href="/entry/233710">233710</a>)<br />
|
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|
|
</span>
|
|
</div>
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</div>
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
<div>
|
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<span class="mim-font">
|
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|
|
- Caused by mutation in the neutrophil cytosolic factor-1 gene, p47-phox (NCF1, <a href="/entry/608512#0001">608512.0001</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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|
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<div class="text-right">
|
|
<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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|
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
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|
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Granulomatous disease, chronic
|
|
- <a href="/phenotypicSeries/PS306400">PS306400</a>
|
|
- 6 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1490?start=-3&limit=10&highlight=1490"> 1q25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/233710"> Chronic granulomatous disease 2, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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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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<a href="/entry/618935"> Chronic granulomatous disease 5, autosomal recessive </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/306400"> Chronic granulomatous disease, X-linked </a>
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<a href="/entry/306400"> 306400 </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-1 (CGD1) is caused by homozygous or compound heterozygous mutation in the NCF1 gene (<a href="/entry/608512">608512</a>) on chromosome 7q11. The NCF1 gene encodes the p47-phox (phagocyte oxidase) protein.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of chronic granulomatous disease, see X-linked recessive CGD (CGDX; <a href="/entry/306400">306400</a>).</p>
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<p><a href="#1" class="mim-tip-reference" title="Azimi, P. H., Bodenbender, J. G., Hintz, R. L., Kontras, S. B. <strong>Chronic granulomatous disease in three female siblings.</strong> JAMA 206: 2865-2870, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5755008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5755008</a>]" pmid="5755008">Azimi et al. (1968)</a> described 3 black sisters with a clinical course and leukocyte behavior in vitro like those in affected males with X-linked CGD. In both families, parents showed normal leukocyte function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5755008" 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="#6" class="mim-tip-reference" title="Clark, R. A., Klebanoff, S. J. <strong>Chronic granulomatous disease: studies of a family with impaired neutrophil chemotactic, metabolic and bactericidal function.</strong> Am. J. Med. 65: 941-948, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/742630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">742630</a>] [<a href="https://doi.org/10.1016/0002-9343(78)90745-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="742630">Clark and Klebanoff (1978)</a> described a brother and sister, aged 24 and 20, respectively, with recurrent staphylococcal infections with predominantly cutaneous involvement. Neutrophils showed normal phagocytosis but impaired killing of staphylococci and absence of a phagocytic metabolic burst as assessed by 8 functions. The mother's neutrophils functioned normally. Both patients showed, unexpectedly, marked impairment of chemotactic responses of their neutrophils and in the level of chemotactic activity generated in their serum by activation of the complement system. Furthermore, their serum contained an inhibitor of chemotactic response by normal neutrophils. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=742630" 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 8 patients, including 7 women with an autosomal recessive form of CGD, <a href="#33" class="mim-tip-reference" title="Segal, A. W., Cross, A. R., Garcia, R. C., Borregaard, N., Valerius, N. H., Soothill, J. F., Jones, O. T. G. <strong>Absence of cytochrome b(-245) in chronic granulomatous disease: a multicenter European evaluation of its incidence and relevance.</strong> New Eng. J. Med. 308: 245-251, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6848934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6848934</a>] [<a href="https://doi.org/10.1056/NEJM198302033080503" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6848934">Segal et al. (1983)</a> found that cytochrome b(-245) was present, but nonfunctional. Among 22 cases of clinically typical CGD, <a href="#2" class="mim-tip-reference" title="Bohler, M.-C., Seger, R. A., Mouy, R., Vilmer, E., Fischer, A., Griscelli, C. <strong>A study of 25 patients with chronic granulomatous disease: a new classification by correlating respiratory burst, cytochrome b, and flavoprotein.</strong> J. Clin. Immun. 6: 136-145, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3011845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3011845</a>] [<a href="https://doi.org/10.1007/BF00918746" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3011845">Bohler et al. (1986)</a> found 4 (2 males, 2 females) with normal amounts of cytochrome b in granulocytes, but absent oxidative activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3011845+6848934" 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 7 patients with the autosomal recessive, cytochrome b-positive form of CGD, <a href="#9" class="mim-tip-reference" title="Curnutte, J. T., Berkow, R. L., Roberts, R. L., Shurin, S. B., Scott, P. J. <strong>Chronic granulomatous disease due to a defect in the cytosolic factor required for nicotinamide adenine dinucleotide phosphate oxidase activation.</strong> J. Clin. Invest. 81: 606-610, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3339133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3339133</a>] [<a href="https://doi.org/10.1172/JCI113360" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3339133">Curnutte et al. (1988)</a> found severe deficiency of a cytosol factor necessary for the activation of NADPH oxidase. Obligate heterozygotes showed an intermediate level of cytosol factor activity. They commented that the clinical severity of the autosomal recessive, cytochrome b-positive form of CGD appeared to be less than that in the cytochrome b-negative form. In their series, CGD was not diagnosed in 2 of the patients until ages 30 and 9, respectively, when each developed hepatic abscesses. Their previous medical histories were significant only for impetiginous skin lesions. Another patient had only 1 serious illness, Legionella pneumonia, in addition to occasional skin infections. A patient who had the highest level of cytosol factor activity had been healthy and was diagnosed only after her brother died of Aspergillus pneumonitis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3339133" 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="#38" class="mim-tip-reference" title="van de Vosse, E., van Wengen, A., van Geelen, J. A., de Boer, M., Roos, D., van Dissel, J. T. <strong>A novel mutation in NCF1 in an adult CGD patient with a liver abscess as first presentation.</strong> J. Hum. Genet. 54: 313-316, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19329991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19329991</a>] [<a href="https://doi.org/10.1038/jhg.2009.24" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19329991">Van de Vosse et al. (2009)</a> reported a 25-year-old woman with CGD who first presented with a Staphylococcus aureus-positive hepatic abscess. Molecular studies showed compound heterozygosity for 2 truncating mutations in the NCF1 gene, resulting in complete absence of the NADPH-oxidase complex. The authors commented on the late presentation of this individual. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19329991" 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="#14" class="mim-tip-reference" title="Hamers, M. N., de Boer, M., Meerhof, L. J., Weening, R. S., Roos, D. <strong>Complementation in monocyte hybrids revealing genetic heterogeneity in chronic granulomatous disease.</strong> Nature 307: 553-555, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6320013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6320013</a>] [<a href="https://doi.org/10.1038/307553a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6320013">Hamers et al. (1984)</a> showed that when monocytes of the X-linked cytochrome b-negative form (<a href="/entry/306400">306400</a>) of CGD are fused with monocytes from the autosomal cytochrome b-positive form, the resultant hybrid cells are cytochrome b-positive and express nitroblue tetrazolium (NBT) reductase activity, indicating complementation of the superoxide/hydrogen peroxide generating system. The findings demonstrated genetic heterogeneity of CGD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6320013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an editorial, <a href="#18" class="mim-tip-reference" title="Karnovsky, M. L. <strong>Steps toward an understanding of chronic granulomatous disease. (Editorial)</strong> New Eng. J. Med. 308: 274-275, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6848940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6848940</a>] [<a href="https://doi.org/10.1056/NEJM198302033080510" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6848940">Karnovsky (1983)</a> noted that in the autosomal form of CGD, cytochrome b(-245) is normally present, but the machinery that reduces (adds electrons or hydrogen to) the cytochrome is defective, indicating 2 main divisions of cellular enzymology in these patients. <a href="#35" class="mim-tip-reference" title="Segal, A. W. <strong>Variations on the theme of chronic granulomatous disease.</strong> Lancet 325: 1378-1383, 1985. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2861323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2861323</a>] [<a href="https://doi.org/10.1016/s0140-6736(85)91796-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2861323">Segal (1985)</a> gave a useful review of the molecular basis of CGD, viewed as a syndrome caused by any defect in the function of the electron transport chain essential to the microbicidal activity of white cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2861323+6848940" 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>One of the major common pathways for activation of neutrophils seems to be protein phosphorylation, which can be directly activated by phorbol myristate acetate (PMA), a potent stimulus of the oxidase system. Using SDS-polyacrylamide gel electrophoresis followed by autoradiography, <a href="#34" class="mim-tip-reference" title="Segal, A. W., Heyworth, P. G., Cockcroft, S., Barrowman, M. M. <strong>Stimulated neutrophils from patients with autosomal recessive chronic granulomatous disease fail to phosphorylate a Mr-44,000 protein.</strong> Nature 316: 547-549, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4033752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4033752</a>] [<a href="https://doi.org/10.1038/316547a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4033752">Segal et al. (1985)</a> demonstrated that cells from 4 patients with autosomal recessive CGD demonstrated a consistent failure to phosphorylate a protein band with an apparent molecular weight of 47 kD. Cells from normal subjects and from 2 patients with X-linked CGD showed normal phosphorylation. The authors suggested that failure to phosphorylate the protein in autosomal CGD could result either from an absence of the protein or replacement of the amino acid target of phosphorylation, usually serine or threonine, due to a point mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4033752" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Caldwell, S. E., McCall, C. E., Hendricks, C. L., Leone, P. A., Bass, D. A., McPhail, L. C. <strong>Coregulation of NADPH oxidase activation and phosphorylation of a 48-kD protein(s) by a cytosolic factor defective in autosomal recessive chronic granulomatous disease.</strong> J. Clin. Invest. 81: 1485-1496, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3366903/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3366903</a>] [<a href="https://doi.org/10.1172/JCI113480" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3366903">Caldwell et al. (1988)</a> demonstrated that the cytosolic factor that is required for activation of NADPH oxidase and is deficient in the autosomal recessive form of CGD also regulates phosphorylation of a specific 48-kD protein. The authors suggested that the protein may be related to the functional and phosphorylation defects present in CGD polymorphonuclear leukocytes and to the activation of NADPH oxidase in the cell-free system. <a href="#27" class="mim-tip-reference" title="Nunoi, H., Rotrosen, D., Gallin, J. I., Malech, H. L. <strong>Two forms of autosomal chronic granulomatous disease lack distinct neutrophil cytosol factors.</strong> Science 242: 1298-1301, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2848319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2848319</a>] [<a href="https://doi.org/10.1126/science.2848319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2848319">Nunoi et al. (1988)</a> found that a 47-kD neutrophil cytosol factor separated from normal neutrophil cytosol can restore normal respiratory burst activity to defective neutrophil cytosol from most patients with autosomally inherited CGD when tested in a cell-free superoxide-generating system. In their studies they found that a 65-kD factor, NCF2 (<a href="/entry/608515">608515</a>), also restored activity to defective neutrophil cytosol from 1 patient with autosomal CGD. NCF1, NCF2, and a third cytosol fraction, NCF3, were inactive alone or in pairs, but together the 3 replaced unfractionated cytosol in cell-free superoxide generation. <a href="#40" class="mim-tip-reference" title="Volpp, B. D., Nauseef, W. M., Clark, R. A. <strong>Two cytosolic neutrophil oxidase components absent in autosomal chronic granulomatous disease.</strong> Science 242: 1295-1297, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2848318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2848318</a>] [<a href="https://doi.org/10.1126/science.2848318" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2848318">Volpp et al. (1988)</a> raised a polyclonal antiserum that recognized the 47-kD and 67-kD proteins and showed that the neutrophils from patients with 2 different forms of autosomal CGD lacked either the 47- or the 67-kD protein. A deficiency of the 47-kD protein is more frequent than that of the 67-kD protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3366903+2848318+2848319" 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="#3" class="mim-tip-reference" title="Bolscher, B. G. J. M., van Zwieten, R., Kramer, I. M., Weening, R. S., Verhoeven, A. J., Roos, D. <strong>A phosphoprotein of M(r) 47,000, defective in autosomal chronic granulomatous disease, copurifies with one of two soluble components required for NADPH:O(2) oxidoreductase activity in human neutrophils.</strong> J. Clin. Invest. 83: 757-763, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2537848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2537848</a>] [<a href="https://doi.org/10.1172/JCI113954" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2537848">Bolscher et al. (1989)</a> studied the soluble fraction that is required for NADPH oxidase activation in a cell-free system. They showed that at least 2 soluble components are necessary for reconstitution of the NADPH oxidase activity: one that does not bind to carboxymethyl Sepharose and one that does bind. These components were designated soluble oxidase component I (SOC1) and II (SOC2), respectively. SOC2 copurified with the 47-kD phosphoprotein previously found to be defective in patients with the autosomal form of CGD. Inactive soluble fractions of cells from autosomal CGD patients were reconstituted with a SOC2 fraction from control cells. The authors concluded that some autosomal CGD patients are normal in SOC1 and defective in SOC2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2537848" 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="#29" class="mim-tip-reference" title="Rodaway, A. R. F., Teahan, C. G., Casimir, C. M., Segal, A. W., Bentley, D. L. <strong>Characterization of the 47-kilodalton autosomal chronic granulomatous disease protein: tissue-specific expression and transcriptional control by retinoic acid.</strong> Molec. Cell. Biol. 10: 5388-5396, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2398896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2398896</a>] [<a href="https://doi.org/10.1128/mcb.10.10.5388-5396.1990" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2398896">Rodaway et al. (1990)</a> raised the possibility that patients with CGD may have a defect in lymphocyte function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2398896" 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="#22" 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 CGD in the patients reported by <a href="#5" class="mim-tip-reference" title="Casimir, C. M., Bu-Ghanim, H. N., Rodaway, A. R. F., Bentley, D. L., Rowe, P., Segal, A. W. <strong>Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat.</strong> Proc. Nat. Acad. Sci. 88: 2753-2757, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2011585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2011585</a>] [<a href="https://doi.org/10.1073/pnas.88.7.2753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2011585">Casimir et al. (1991)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2011585" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 unrelated patients with autosomal recessive CGD, <a href="#5" class="mim-tip-reference" title="Casimir, C. M., Bu-Ghanim, H. N., Rodaway, A. R. F., Bentley, D. L., Rowe, P., Segal, A. W. <strong>Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat.</strong> Proc. Nat. Acad. Sci. 88: 2753-2757, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2011585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2011585</a>] [<a href="https://doi.org/10.1073/pnas.88.7.2753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2011585">Casimir et al. (1991)</a> identified a homozygous 2-bp deletion in the NCF1 gene (<a href="/entry/608512#0001">608512.0001</a>). <a href="#5" class="mim-tip-reference" title="Casimir, C. M., Bu-Ghanim, H. N., Rodaway, A. R. F., Bentley, D. L., Rowe, P., Segal, A. W. <strong>Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat.</strong> Proc. Nat. Acad. Sci. 88: 2753-2757, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2011585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2011585</a>] [<a href="https://doi.org/10.1073/pnas.88.7.2753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2011585">Casimir et al. (1991)</a> stated that about 30% of CGD cases are autosomal recessive and that more than 90% of the autosomal recessive cases have a defect in the 47-kD cytosolic protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2011585" 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>Unlike other CGD subtypes, in which there is great heterogeneity among mutations, 97% of affected alleles in patients with p47-PHOX deficiency carry the 2-bp deletion in the NCF1 gene (<a href="#26" class="mim-tip-reference" title="Noack, D., Rae, J., Cross, A. R., Ellis, B. A., Newburger, P. E., Curnutte, J. T., Heyworth, P. G. <strong>Autosomal recessive chronic granulomatous disease caused by defects in NCF1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF1 pseudogenes.</strong> Blood 97: 305-311, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11133775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11133775</a>] [<a href="https://doi.org/10.1182/blood.v97.1.305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11133775">Noack et al., 2001</a>). In each of the 4 patients who were heterozygous for the GT deletion, <a href="#26" class="mim-tip-reference" title="Noack, D., Rae, J., Cross, A. R., Ellis, B. A., Newburger, P. E., Curnutte, J. T., Heyworth, P. G. <strong>Autosomal recessive chronic granulomatous disease caused by defects in NCF1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF1 pseudogenes.</strong> Blood 97: 305-311, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11133775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11133775</a>] [<a href="https://doi.org/10.1182/blood.v97.1.305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11133775">Noack et al. (2001)</a> identified additional mutations in the NCF1 gene (see, e.g., <a href="/entry/608512#0003">608512.0003</a>-<a href="/entry/608512#0004">608512.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11133775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated patients (KS and SR) with CGD, <a href="#39" class="mim-tip-reference" title="Volpp, B. D., Lin, Y. <strong>In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease.</strong> J. Clin. Invest. 91: 201-207, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7678602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7678602</a>] [<a href="https://doi.org/10.1172/JCI116171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7678602">Volpp and Lin (1993)</a> identified homozygous or compound heterozygous frameshift mutations in the NCF1 gene (<a href="/entry/608512#0001">608512.0001</a> and <a href="/entry/608512#0002">608512.0002</a>). Both mutations were frameshifts, resulting in premature termination. Patient SR had previously been reported by <a href="#6" class="mim-tip-reference" title="Clark, R. A., Klebanoff, S. J. <strong>Chronic granulomatous disease: studies of a family with impaired neutrophil chemotactic, metabolic and bactericidal function.</strong> Am. J. Med. 65: 941-948, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/742630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">742630</a>] [<a href="https://doi.org/10.1016/0002-9343(78)90745-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="742630">Clark and Klebanoff (1978)</a>. <a href="#39" class="mim-tip-reference" title="Volpp, B. D., Lin, Y. <strong>In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease.</strong> J. Clin. Invest. 91: 201-207, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7678602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7678602</a>] [<a href="https://doi.org/10.1172/JCI116171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7678602">Volpp and Lin (1993)</a> demonstrated that the transfection of NCF1 cDNA into p47-phox-deficient cell lines resulted in the generation of normal levels of superoxide and readily detectable cytosolic enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=742630+7678602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Gorlach, A., Lee, P. L., Roesler, J., Hopkins, P. J., Christensen, B., Green, E. D., Chanock, S. J., Curnutte, J. T. <strong>A p47-phox pseudogene carries the most common mutation causing p47-phox-deficient chronic granulomatous disease.</strong> J. Clin. Invest. 100: 1907-1918, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9329953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9329953</a>] [<a href="https://doi.org/10.1172/JCI119721" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9329953">Gorlach et al. (1997)</a> found that in each of 34 consecutive unrelated normal individuals, both the normal and mutant delta-GT sequences were present in genomic DNA. Further study revealed that this finding was due to the p47-phox pseudogene containing the delta-GT mutation. This close linkage, together with the presence within each gene of multiple recombination hotspots, suggested that the predominance of the delta-GT mutation in this autosomal recessive form of CGD is caused by recombination events between the wildtype gene and the pseudogene(s). Gene conversion events between homologous genes and their pseudogenes had been described in the pathogenesis of several genetic disorders, such as 21-hydroxylase deficiency (<a href="/entry/201910">201910</a>), von Willebrand disease (<a href="/entry/193400">193400</a>), and Gaucher disease (<a href="/entry/230800">230800</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9329953" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Roesler, J., Curnutte, J. T., Rae, J., Barrett, D., Patino, P., Chanock, S. J., Goerlach, A. <strong>Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease.</strong> Blood 95: 2150-2156, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10706888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10706888</a>]" pmid="10706888">Roesler et al. (2000)</a> performed sequence analysis of 28 unrelated, racially diverse patients with the p47-phox-deficient form of CGD and 37 healthy individuals. In 25 patients, the CGD deletion in exon 2 was present in all alleles. Three patients and all healthy individuals contained GTGT and delta-GT sequences, the latter being a characteristic of the NCF1 pseudogene. A total of 22 patients carried additional pseudogene-specific intronic sequences on all alleles, either only in intron 1 or in intron 1 and intron 2, which led to different types of chimeric DNA strands. <a href="#30" class="mim-tip-reference" title="Roesler, J., Curnutte, J. T., Rae, J., Barrett, D., Patino, P., Chanock, S. J., Goerlach, A. <strong>Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease.</strong> Blood 95: 2150-2156, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10706888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10706888</a>]" pmid="10706888">Roesler et al. (2000)</a> concluded that recombination events between the NCF1 gene and its highly homologous pseudogenes result in the incorporation of delta-GT into the NCF1 gene, thereby leading to the high frequency of GT deletion in CGD patients with the p47-phox-deficient form. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10706888" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Roos, D., de Boer, M., Yavuz Koker, M., Dekker, J., Singh-Gupta, V., Ahlin, A., Palmblad, J., Sanal, O., Kurenko-Deptuch, M., Jolles, S., Wolach, B. <strong>Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47-phox component of the phagocyte NADPH oxidase.</strong> Hum. Mutat. 27: 1218-1229, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16972229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16972229</a>] [<a href="https://doi.org/10.1002/humu.20413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16972229">Roos et al. (2006)</a> identified 7 different mutations and a large deletion in the NCF1 gene in affected individuals from 9 unrelated families with autosomal recessive CGD. In 6 families, the patients were compound heterozygous for the common GT deletion and another pathogenic mutation. Patients from 2 families had a homozygous mutation, and a patient from 1 family was compound heterozygous for 2 mutations (see, e.g., <a href="/entry/608512#0005">608512.0005</a>-<a href="/entry/608512#0007">608512.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16972229" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="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 autosomal form of CGD due to deficiency of NCF1 represents about 33% of all cases of CGD; the autosomal form due to deficiency of NCF2 represents about 5% of 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>
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<p>By haplotype analysis and homozygosity mapping in 15 Tunisian patients with CGD from 14 unrelated families, <a href="#11" class="mim-tip-reference" title="El Kares, R., Barbouche, M. R., Elloumi-Zghal, H., Bejaoui, M., Chemli, J., Mellouli, F., Tebib, N., Abdelmoula, M. S., Boukthir, S., Fitouri, Z., M'Rad, S., Bouslama, K., Touiri, H., Abdelhak, S., Dellagi, M. K. <strong>Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia.</strong> J. Hum. Genet. 51: 887-895, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16937026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16937026</a>] [<a href="https://doi.org/10.1007/s10038-006-0039-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16937026">El Kares et al. (2006)</a> assigned the genetic defect to the NCF1 gene in 5 patients, the NCF2 gene in 4 patients, and the CYBA gene (<a href="/entry/608508">608508</a>) in 2 patients, and 2 patients appeared to have X-linked CGD. Haplotype analysis of 2 patients from a large consanguineous family showed heterozygosity around the 3 known CGD genes, and X-linked disease was excluded by the presence of a healthy male sib of unaffected parents, suggesting further genetic heterogeneity for CGD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16937026" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#37" class="mim-tip-reference" title="Sekhsaria, S., Gallin, J. I., Linton, G. F., Mallory, R. M., Mulligan, R. C., Malech, H. L. <strong>Peripheral blood progenitors as a target for genetic correction of p47(phox)-deficient chronic granulomatous disease.</strong> Proc. Nat. Acad. Sci. 90: 7446-7450, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8395049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8395049</a>] [<a href="https://doi.org/10.1073/pnas.90.16.7446" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8395049">Sekhsaria et al. (1993)</a> demonstrated that hematopoietic progenitors, which can be harvested from peripheral blood in clinically relevant numbers by apheresis, can be used for gene therapy in this form of CGD. They used a replication-defective retrovirus encoding p47-phox to transduce peripheral blood hematopoietic progenitors (PBHPs) from patients with this disorder and demonstrated significant correction of microbicidal superoxide generation when the PBHPs were differentiated to mature neutrophils and monocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8395049" 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="#15" class="mim-tip-reference" title="Holmes, B., Park, B. H., Malawista, S. E., Quie, P. G., Nelson, D. L., Good, R. A. <strong>Chronic granulomatous disease in females: a deficiency of leukocyte glutathione peroxidase.</strong> New Eng. J. Med. 283: 217-221, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4393202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4393202</a>] [<a href="https://doi.org/10.1056/NEJM197007302830501" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4393202">Holmes et al. (1970)</a> presented evidence suggesting that leukocyte glutathione peroxidase activity (<a href="/entry/138320">138320</a>) is defective in females with chronic granulomatous disease. Later studies of the patients reported by <a href="#15" class="mim-tip-reference" title="Holmes, B., Park, B. H., Malawista, S. E., Quie, P. G., Nelson, D. L., Good, R. A. <strong>Chronic granulomatous disease in females: a deficiency of leukocyte glutathione peroxidase.</strong> New Eng. J. Med. 283: 217-221, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4393202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4393202</a>] [<a href="https://doi.org/10.1056/NEJM197007302830501" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4393202">Holmes et al. (1970)</a> showed normal glutathione peroxidase activity and mutations in the CYBB gene (<a href="/entry/300481">300481</a>) (<a href="#25" class="mim-tip-reference" title="Newburger, P. E., Malawista, S. E., Dinauer, M. C., Gelbart, T., Woodman, R. C., Chada, S., Shen, Q., van Blaricom, G., Quie, P. G., Curnutte, J. T. <strong>Chronic granulomatous disease and glutathione peroxidase deficiency, revisited.</strong> Blood 84: 3861-3869, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7949143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7949143</a>]" pmid="7949143">Newburger et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7949143+4393202" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Matsuda, I., Oka, Y., Taniguchi, N., Furuyama, M., Kodama, S., Arashima, S., Mitsuyama, T. <strong>Leukocyte glutathione peroxidase deficiency in a male patient with chronic granulomatous disease.</strong> J. Pediat. 88: 581-583, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1255315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1255315</a>] [<a href="https://doi.org/10.1016/s0022-3476(76)80010-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1255315">Matsuda et al. (1976)</a> described a male child with CGD who had glutathione peroxidase deficiency. Both parents had an intermediate level of glutathione peroxidase. Data interpreted as indicating deficiency of leukocyte glutathione peroxidase are suspect, however, since investigators using cells from infected normals as controls have not found low GPX (<a href="#17" class="mim-tip-reference" title="Johnston, R. B., Jr., Winkelstein, J. A. <strong>Personal Communication.</strong> Denver, Colo. and Baltimore, Md. 2/1/1982."None>Johnston and Winkelstein, 1982</a>). Furthermore, animals with severe deficiency of GPX are said to have no bactericidal defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1255315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Good, R. A. <strong>Intracellular abnormalities of leukocyte function in man. In: Bergsma, D.: Immunodeficiency in Man and Animals.</strong> New York: National Foundation-March of Dimes (pub.) 1975. Pp. 66-70."None>Good (1975)</a> listed the Ford familial lipochrome histiocytosis (<a href="/entry/235900">235900</a>) as type 3 CGD. <a href="#8" class="mim-tip-reference" title="Corberand, J., De Larrard, B., Vergnes, H., Carriere, J.-P. <strong>Chronic granulomatous disease with leukocytic glucose-6-phosphate dehydrogenase deficiency in a 28-month-old girl.</strong> Am. J. Clin. Path. 70: 296-300, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/696690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">696690</a>] [<a href="https://doi.org/10.1093/ajcp/70.2.296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="696690">Corberand et al. (1978)</a> described G6PD-deficient CGD in a female with first-cousin parents. (See <a href="/entry/300908">300908</a> for further discussion of G6PD-deficient CGD.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=696690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Kimpen, J., Van Damme-Lombaerts, R., Van den Berghe, G., Proesmans, W. <strong>Autosomal recessive chronic granulomatous disease associated with 18q- syndrome and end-stage renal failure due to Henoch-Schonlein nephritis.</strong> Europ. J. Pediat. 150: 325-326, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2044603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2044603</a>] [<a href="https://doi.org/10.1007/BF01955932" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2044603">Kimpen et al. (1991)</a> proposed that the autosomal recessive form of CGD might be due to a mutation on 18q because they observed the association of CGD with 18q- syndrome. In fact, the 3 forms of autosomal recessive CGD are known to map to chromosomes 1, 7, and 16. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2044603" 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="#16" class="mim-tip-reference" title="Jackson, S. H., Gallin, J. I., Holland, S. M. <strong>The p47(phox) mouse knock-out model of chronic granulomatous disease.</strong> J. Exp. Med. 182: 751-758, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7650482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7650482</a>] [<a href="https://doi.org/10.1084/jem.182.3.751" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7650482">Jackson et al. (1995)</a> developed a p47(phox-/-) 'knock-out' CGD mouse that had a phenotype identical to its human counterpart, including increased susceptibility to spontaneous lethal infections. <a href="#23" class="mim-tip-reference" title="Mardiney, M., III, Jackson, S. H., Spratt, S. K., Li, F., Holland, S. M., Malech, H. L. <strong>Enhanced host defense after gene transfer in the murine p47(phox)-deficient model of chronic granulomatous disease.</strong> Blood 89: 2268-2275, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9116268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9116268</a>]" pmid="9116268">Mardiney et al. (1997)</a> used this CGD mouse model to study retrovirus-mediated gene therapy targeting hematopoietic stem cells to address some of the issues raised in an ongoing human phase 1 clinical study of gene therapy of this form of CGD. Hematopoietic progenitor cells (HPCs) were derived from nonprimed bone marrow, and the recipient mice received a moderate dose of radiation as conditioning before transplantation. Using these conditions, gene therapy in the p47-deficient CGD mice resulted in long-term correction of NADPH oxidase function in a percentage of neutrophils sufficient to restore NADPH oxidase-dependent host-defense function. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7650482+9116268" 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>During inflammation, indoleamine 2,3-dioxygenase (IDO; <a href="/entry/147435">147435</a>) is upregulated in dendritic cells and phagocytes by proinflammatory stimuli, most notably, IFNG (<a href="/entry/147570">147570</a>), and the enzyme then uses superoxide as a 'cofactor' for oxidative cleavage of the indole ring of tryptophan, yielding an intermediate that deformylates to L-kynurenine. <a href="#31" class="mim-tip-reference" title="Romani, L., Fallarino, F., De Luca, A., Montagnoli, C., D'Angelo, C., Zelante, T., Vacca, C., Bistoni, F., Fioretti, M. C., Grohmann, U., Segal, B. H., Puccetti, P. <strong>Defective tryptophan catabolism underlies inflammation in mouse chronic granulomatous disease.</strong> Nature 451: 211-215, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18185592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18185592</a>] [<a href="https://doi.org/10.1038/nature06471" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18185592">Romani et al. (2008)</a> demonstrated that a superoxide-dependent step in tryptophan metabolism along the kynurenine pathway is blocked in CGD mice deficient in p47 with lethal pulmonary aspergillosis (see <a href="/entry/614079">614079</a>), leading to unrestrained V-gamma-1+ gamma-delta T-cell reactivity, dominant production of interleukin-17 (IL17; <a href="/entry/603149">603149</a>), defective regulatory T-cell activity, and acute inflammatory lung injury. Although beneficial effects are induced by IL17 neutralization or gamma-delta T-cell contraction, complete cure and reversal of the hyperinflammatory phenotype are achieved by replacement therapy with a natural kynurenine distal to the blockade in the pathway. Effective therapy, which includes coadministration of recombinant IFNG, restores production of downstream immunoactive metabolites and enables the emergence of regulatory V-gamma-4+ gamma-delta and Foxp3+ (<a href="/entry/300292">300292</a>) alpha-beta T cells. Therefore, <a href="#31" class="mim-tip-reference" title="Romani, L., Fallarino, F., De Luca, A., Montagnoli, C., D'Angelo, C., Zelante, T., Vacca, C., Bistoni, F., Fioretti, M. C., Grohmann, U., Segal, B. H., Puccetti, P. <strong>Defective tryptophan catabolism underlies inflammation in mouse chronic granulomatous disease.</strong> Nature 451: 211-215, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18185592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18185592</a>] [<a href="https://doi.org/10.1038/nature06471" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18185592">Romani et al. (2008)</a> concluded that paradoxically, the lack of reactive oxygen species contributes to the hyperinflammatory phenotype associated with NADPH oxidase deficiencies, through a dysfunctional kynurenine pathway of tryptophan catabolism. Yet this condition can be reverted by reactivating the pathway downstream of the superoxide-dependent step. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18185592" 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="#10" class="mim-tip-reference" title="Deffert, C., Schappi, M. G., Pache, J.-C., Cachat, J., Vesin, D., Bisig, R., Ma Mulone, X.., Kelkka, T., Holmdahl, R., Garcia, I., Olleros, M. L., Krause, K.-H. <strong>Bacillus Calmette-Guerin infection in NADPH oxidase deficiency: defective mycobacterial sequestration and granuloma formation.</strong> PLoS Pathog. 10: e1004325, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25188296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25188296</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25188296[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/10.1371/journal.ppat.1004325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25188296">Deffert et al. (2014)</a> conducted a literature search that found nearly 300 cases of mycobacterial infection in CGD, principally caused by M. bovis bacillus Calmette-Guerin (BCG). The authors then investigated BCG infection in 3 different mouse models of CGD: 2 strains of mice lacking Ncf1 and mice lacking Cybb. All 3 CGD mouse strains were highly susceptible to intravenous BCG infection, manifest as severe weight loss, hemorrhagic pneumonia with high numbers of neutrophils, and 50% mortality. These mice had only moderately increased bacterial load. Macrophage-specific rescue of Cybb restored BCG resistance. Reactive oxygen species was generated in granulomas of wildtype mice, but not CGD mice. Massive increases in the release of the cytokines Tnf (<a href="/entry/191160">191160</a>), Ifng, Il17, and Il12 (<a href="/entry/161561">161561</a>), as well as Cxcl1 (<a href="/entry/155730">155730</a>), a neutrophil chemoattractant, occurred early after infection in CGD mice, possibly explaining disease severity. Macrophages clustered in granulomas in wildtype mice, whereas macrophages were diffusely distributed in lungs of CGD mice. <a href="#10" class="mim-tip-reference" title="Deffert, C., Schappi, M. G., Pache, J.-C., Cachat, J., Vesin, D., Bisig, R., Ma Mulone, X.., Kelkka, T., Holmdahl, R., Garcia, I., Olleros, M. L., Krause, K.-H. <strong>Bacillus Calmette-Guerin infection in NADPH oxidase deficiency: defective mycobacterial sequestration and granuloma formation.</strong> PLoS Pathog. 10: e1004325, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25188296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25188296</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25188296[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/10.1371/journal.ppat.1004325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25188296">Deffert et al. (2014)</a> concluded that lack of NADPH oxidase leads to markedly increased severity of BCG infection through increased cytokine production and reduced granuloma formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25188296" 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="#Koch1973" class="mim-tip-reference" title="Koch, C., Sogaard, H., Christensen, M. F. <strong>Inheritance of chronic granulomatous disease in females: report of a female patient and the leucocyte function studies in the family.</strong> Acta Paediat. Scand. 62: 659-665, 1973.">Koch et al. (1973)</a>; <a href="#Kontras1972" class="mim-tip-reference" title="Kontras, S. B., Bodenbender, J. G., Liden, C. B. <strong>Clinical and genetic heterogeneity of chronic granulomatous disease.</strong> Birth Defects Orig. Art. Ser. 8(3): 83-98, 1972.">Kontras et al. (1972)</a>; <a href="#Quie1968" class="mim-tip-reference" title="Quie, P. G., Kaplan, E. L., Page, A. R., Grunskay, F. L., Malawista, S. E. <strong>Defective polymorphonuclear leukocyte function and chronic granulomatous disease in two female children.</strong> New Eng. J. Med. 278: 976-980, 1968.">Quie et al. (1968)</a>; <a href="#Segal1988" class="mim-tip-reference" title="Segal, A. W. <strong>The molecular and cellular pathology of chronic granulomatous disease.</strong> Europ. J. Clin. Invest. 18: 433-443, 1988.">Segal
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3011845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3011845</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3011845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bolscher, B. G. J. M., van Zwieten, R., Kramer, I. M., Weening, R. S., Verhoeven, A. J., Roos, D.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2537848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2537848</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2537848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Caldwell, S. E., McCall, C. E., Hendricks, C. L., Leone, P. A., Bass, D. A., McPhail, L. C.
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<strong>Coregulation of NADPH oxidase activation and phosphorylation of a 48-kD protein(s) by a cytosolic factor defective in autosomal recessive chronic granulomatous disease.</strong>
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J. Clin. Invest. 81: 1485-1496, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3366903/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3366903</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3366903" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Casimir, C. M., Bu-Ghanim, H. N., Rodaway, A. R. F., Bentley, D. L., Rowe, P., Segal, A. W.
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<strong>Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2011585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2011585</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2011585" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/742630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">742630</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=742630" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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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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Corberand, J., De Larrard, B., Vergnes, H., Carriere, J.-P.
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<strong>Chronic granulomatous disease with leukocytic glucose-6-phosphate dehydrogenase deficiency in a 28-month-old girl.</strong>
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Am. J. Clin. Path. 70: 296-300, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/696690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">696690</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=696690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Curnutte, J. T., Berkow, R. L., Roberts, R. L., Shurin, S. B., Scott, P. J.
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<strong>Chronic granulomatous disease due to a defect in the cytosolic factor required for nicotinamide adenine dinucleotide phosphate oxidase activation.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3339133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3339133</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3339133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Deffert, C., Schappi, M. G., Pache, J.-C., Cachat, J., Vesin, D., Bisig, R., Ma Mulone, X.., Kelkka, T., Holmdahl, R., Garcia, I., Olleros, M. L., Krause, K.-H.
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<strong>Bacillus Calmette-Guerin infection in NADPH oxidase deficiency: defective mycobacterial sequestration and granuloma formation.</strong>
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PLoS Pathog. 10: e1004325, 2014. Note: Electronic Article.
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[<a href="https://doi.org/10.1128/mcb.10.10.5388-5396.1990" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/nature06471" target="_blank">Full Text</a>]
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Roos, D., de Boer, M., Yavuz Koker, M., Dekker, J., Singh-Gupta, V., Ahlin, A., Palmblad, J., Sanal, O., Kurenko-Deptuch, M., Jolles, S., Wolach, B.
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<strong>Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47-phox component of the phagocyte NADPH oxidase.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16972229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16972229</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16972229" 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/10.1002/humu.20413" target="_blank">Full Text</a>]
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<a id="Segal1983" class="mim-anchor"></a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6848934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6848934</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6848934" 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/NEJM198302033080503" target="_blank">Full Text</a>]
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Segal, A. W., Heyworth, P. G., Cockcroft, S., Barrowman, M. M.
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<strong>Stimulated neutrophils from patients with autosomal recessive chronic granulomatous disease fail to phosphorylate a Mr-44,000 protein.</strong>
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Nature 316: 547-549, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4033752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4033752</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4033752" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/316547a0" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2861323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2861323</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2861323" 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/10.1016/s0140-6736(85)91796-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-2362.1988.tb01037.x" target="_blank">Full Text</a>]
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Sekhsaria, S., Gallin, J. I., Linton, G. F., Mallory, R. M., Mulligan, R. C., Malech, H. L.
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<strong>Peripheral blood progenitors as a target for genetic correction of p47(phox)-deficient chronic granulomatous disease.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8395049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8395049</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8395049" 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/10.1073/pnas.90.16.7446" target="_blank">Full Text</a>]
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van de Vosse, E., van Wengen, A., van Geelen, J. A., de Boer, M., Roos, D., van Dissel, J. T.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19329991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19329991</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19329991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/jhg.2009.24" target="_blank">Full Text</a>]
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Volpp, B. D., Lin, Y.
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<strong>In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7678602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7678602</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7678602" 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/JCI116171" target="_blank">Full Text</a>]
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Volpp, B. D., Nauseef, W. M., Clark, R. A.
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<strong>Two cytosolic neutrophil oxidase components absent in autosomal chronic granulomatous disease.</strong>
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Science 242: 1295-1297, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2848318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2848318</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2848318" 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/10.1126/science.2848318" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 07/23/2020
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Paul J. Converse - updated : 10/1/2014<br>Cassandra L. Kniffin - updated : 6/14/2010<br>Ada Hamosh - updated : 1/23/2008<br>Marla J. F. O'Neill - updated : 1/2/2007<br>Cassandra L. Kniffin - updated : 12/29/2006<br>Cassandra L. Kniffin - reorganized : 3/12/2004<br>Deborah L. Stone - updated : 9/11/2001<br>Victor A. McKusick - updated : 8/20/2001<br>Ada Hamosh - updated : 5/24/2000<br>Victor A. McKusick - updated : 4/26/2000<br>Victor A. McKusick - updated : 3/16/1998<br>Victor A. McKusick - updated : 11/7/1997<br>Victor A. McKusick - updated : 5/16/1997
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Victor A. McKusick : 6/3/1986
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carol : 05/07/2024
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carol : 03/01/2022<br>carol : 07/28/2020<br>ckniffin : 07/23/2020<br>carol : 07/07/2020<br>carol : 07/06/2020<br>ckniffin : 07/02/2020<br>alopez : 09/15/2016<br>carol : 05/27/2016<br>mgross : 10/3/2014<br>mcolton : 10/1/2014<br>carol : 10/24/2013<br>carol : 8/12/2011<br>mgross : 7/7/2011<br>wwang : 6/16/2010<br>ckniffin : 6/14/2010<br>carol : 12/7/2009<br>terry : 6/3/2009<br>terry : 3/4/2009<br>alopez : 2/4/2008<br>terry : 1/23/2008<br>wwang : 7/30/2007<br>wwang : 1/2/2007<br>wwang : 1/2/2007<br>ckniffin : 12/29/2006<br>carol : 12/7/2006<br>terry : 6/9/2005<br>carol : 3/12/2004<br>terry : 3/12/2004<br>ckniffin : 3/12/2004<br>ckniffin : 3/11/2004<br>tkritzer : 7/9/2003<br>alopez : 1/2/2003<br>alopez : 12/9/2002<br>alopez : 12/9/2002<br>alopez : 12/9/2002<br>terry : 12/6/2002<br>carol : 9/11/2001<br>mcapotos : 8/24/2001<br>mcapotos : 8/20/2001<br>alopez : 5/25/2000<br>carol : 5/24/2000<br>mcapotos : 5/18/2000<br>terry : 4/26/2000<br>mcapotos : 12/13/1999<br>terry : 12/10/1999<br>dkim : 7/24/1998<br>dkim : 7/24/1998<br>alopez : 5/15/1998<br>alopez : 3/16/1998<br>terry : 2/25/1998<br>terry : 2/25/1998<br>jenny : 11/12/1997<br>terry : 11/7/1997<br>alopez : 7/8/1997<br>alopez : 6/27/1997<br>mark : 6/16/1997<br>alopez : 5/20/1997<br>terry : 5/16/1997<br>mark : 4/4/1997<br>mark : 9/18/1995<br>davew : 8/15/1994<br>warfield : 4/15/1994<br>mimadm : 2/19/1994<br>carol : 9/20/1993<br>carol : 2/18/1993
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<h3>
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GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1; CGD1
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</h3>
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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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GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I<br />
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CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE I<br />
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GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF1 DEFICIENCY<br />
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NEUTROPHIL CYTOSOL FACTOR 1 DEFICIENCY<br />
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NCF1 DEFICIENCY<br />
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SOLUBLE OXIDASE COMPONENT II DEFICIENCY<br />
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SOC2 DEFICIENCY<br />
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p47-PHOX DEFICIENCY
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</h4>
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<p>
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<strong>ORPHA:</strong> 379;
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<strong>DO:</strong> 0070192;
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</p>
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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</h4>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<th>
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Location
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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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Inheritance
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<th>
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Phenotype <br /> mapping key
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</th>
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Gene/Locus
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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7q11.23
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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 1, 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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233700
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</td>
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<span class="mim-font">
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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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3
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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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NCF1
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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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608512
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</span>
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</tr>
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</tbody>
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive chronic granulomatous disease-1 (CGD1) is caused by homozygous or compound heterozygous mutation in the NCF1 gene (608512) on chromosome 7q11. The NCF1 gene encodes the p47-phox (phagocyte oxidase) protein.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of chronic granulomatous disease, see X-linked recessive CGD (CGDX; 306400).</p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Azimi et al. (1968) described 3 black sisters with a clinical course and leukocyte behavior in vitro like those in affected males with X-linked CGD. In both families, parents showed normal leukocyte function. </p><p>Clark and Klebanoff (1978) described a brother and sister, aged 24 and 20, respectively, with recurrent staphylococcal infections with predominantly cutaneous involvement. Neutrophils showed normal phagocytosis but impaired killing of staphylococci and absence of a phagocytic metabolic burst as assessed by 8 functions. The mother's neutrophils functioned normally. Both patients showed, unexpectedly, marked impairment of chemotactic responses of their neutrophils and in the level of chemotactic activity generated in their serum by activation of the complement system. Furthermore, their serum contained an inhibitor of chemotactic response by normal neutrophils. </p><p>In 8 patients, including 7 women with an autosomal recessive form of CGD, Segal et al. (1983) found that cytochrome b(-245) was present, but nonfunctional. Among 22 cases of clinically typical CGD, Bohler et al. (1986) found 4 (2 males, 2 females) with normal amounts of cytochrome b in granulocytes, but absent oxidative activity. </p><p>In 7 patients with the autosomal recessive, cytochrome b-positive form of CGD, Curnutte et al. (1988) found severe deficiency of a cytosol factor necessary for the activation of NADPH oxidase. Obligate heterozygotes showed an intermediate level of cytosol factor activity. They commented that the clinical severity of the autosomal recessive, cytochrome b-positive form of CGD appeared to be less than that in the cytochrome b-negative form. In their series, CGD was not diagnosed in 2 of the patients until ages 30 and 9, respectively, when each developed hepatic abscesses. Their previous medical histories were significant only for impetiginous skin lesions. Another patient had only 1 serious illness, Legionella pneumonia, in addition to occasional skin infections. A patient who had the highest level of cytosol factor activity had been healthy and was diagnosed only after her brother died of Aspergillus pneumonitis. </p><p>Van de Vosse et al. (2009) reported a 25-year-old woman with CGD who first presented with a Staphylococcus aureus-positive hepatic abscess. Molecular studies showed compound heterozygosity for 2 truncating mutations in the NCF1 gene, resulting in complete absence of the NADPH-oxidase complex. The authors commented on the late presentation of this individual. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hamers et al. (1984) showed that when monocytes of the X-linked cytochrome b-negative form (306400) of CGD are fused with monocytes from the autosomal cytochrome b-positive form, the resultant hybrid cells are cytochrome b-positive and express nitroblue tetrazolium (NBT) reductase activity, indicating complementation of the superoxide/hydrogen peroxide generating system. The findings demonstrated genetic heterogeneity of CGD. </p><p>In an editorial, Karnovsky (1983) noted that in the autosomal form of CGD, cytochrome b(-245) is normally present, but the machinery that reduces (adds electrons or hydrogen to) the cytochrome is defective, indicating 2 main divisions of cellular enzymology in these patients. Segal (1985) gave a useful review of the molecular basis of CGD, viewed as a syndrome caused by any defect in the function of the electron transport chain essential to the microbicidal activity of white cells. </p><p>One of the major common pathways for activation of neutrophils seems to be protein phosphorylation, which can be directly activated by phorbol myristate acetate (PMA), a potent stimulus of the oxidase system. Using SDS-polyacrylamide gel electrophoresis followed by autoradiography, Segal et al. (1985) demonstrated that cells from 4 patients with autosomal recessive CGD demonstrated a consistent failure to phosphorylate a protein band with an apparent molecular weight of 47 kD. Cells from normal subjects and from 2 patients with X-linked CGD showed normal phosphorylation. The authors suggested that failure to phosphorylate the protein in autosomal CGD could result either from an absence of the protein or replacement of the amino acid target of phosphorylation, usually serine or threonine, due to a point mutation. </p><p>Caldwell et al. (1988) demonstrated that the cytosolic factor that is required for activation of NADPH oxidase and is deficient in the autosomal recessive form of CGD also regulates phosphorylation of a specific 48-kD protein. The authors suggested that the protein may be related to the functional and phosphorylation defects present in CGD polymorphonuclear leukocytes and to the activation of NADPH oxidase in the cell-free system. Nunoi et al. (1988) found that a 47-kD neutrophil cytosol factor separated from normal neutrophil cytosol can restore normal respiratory burst activity to defective neutrophil cytosol from most patients with autosomally inherited CGD when tested in a cell-free superoxide-generating system. In their studies they found that a 65-kD factor, NCF2 (608515), also restored activity to defective neutrophil cytosol from 1 patient with autosomal CGD. NCF1, NCF2, and a third cytosol fraction, NCF3, were inactive alone or in pairs, but together the 3 replaced unfractionated cytosol in cell-free superoxide generation. Volpp et al. (1988) raised a polyclonal antiserum that recognized the 47-kD and 67-kD proteins and showed that the neutrophils from patients with 2 different forms of autosomal CGD lacked either the 47- or the 67-kD protein. A deficiency of the 47-kD protein is more frequent than that of the 67-kD protein. </p><p>Bolscher et al. (1989) studied the soluble fraction that is required for NADPH oxidase activation in a cell-free system. They showed that at least 2 soluble components are necessary for reconstitution of the NADPH oxidase activity: one that does not bind to carboxymethyl Sepharose and one that does bind. These components were designated soluble oxidase component I (SOC1) and II (SOC2), respectively. SOC2 copurified with the 47-kD phosphoprotein previously found to be defective in patients with the autosomal form of CGD. Inactive soluble fractions of cells from autosomal CGD patients were reconstituted with a SOC2 fraction from control cells. The authors concluded that some autosomal CGD patients are normal in SOC1 and defective in SOC2. </p><p>Rodaway et al. (1990) raised the possibility that patients with CGD may have a defect in lymphocyte function. </p>
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</span>
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<div>
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<br />
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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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<strong>Clinical Management</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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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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</span>
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<div>
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<br />
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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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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of CGD in the patients reported by Casimir et al. (1991) was consistent with autosomal recessive inheritance. </p>
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</span>
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<div>
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<br />
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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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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 3 unrelated patients with autosomal recessive CGD, Casimir et al. (1991) identified a homozygous 2-bp deletion in the NCF1 gene (608512.0001). Casimir et al. (1991) stated that about 30% of CGD cases are autosomal recessive and that more than 90% of the autosomal recessive cases have a defect in the 47-kD cytosolic protein. </p><p>Unlike other CGD subtypes, in which there is great heterogeneity among mutations, 97% of affected alleles in patients with p47-PHOX deficiency carry the 2-bp deletion in the NCF1 gene (Noack et al., 2001). In each of the 4 patients who were heterozygous for the GT deletion, Noack et al. (2001) identified additional mutations in the NCF1 gene (see, e.g., 608512.0003-608512.0004). </p><p>In 2 unrelated patients (KS and SR) with CGD, Volpp and Lin (1993) identified homozygous or compound heterozygous frameshift mutations in the NCF1 gene (608512.0001 and 608512.0002). Both mutations were frameshifts, resulting in premature termination. Patient SR had previously been reported by Clark and Klebanoff (1978). Volpp and Lin (1993) demonstrated that the transfection of NCF1 cDNA into p47-phox-deficient cell lines resulted in the generation of normal levels of superoxide and readily detectable cytosolic enzyme. </p><p>Gorlach et al. (1997) found that in each of 34 consecutive unrelated normal individuals, both the normal and mutant delta-GT sequences were present in genomic DNA. Further study revealed that this finding was due to the p47-phox pseudogene containing the delta-GT mutation. This close linkage, together with the presence within each gene of multiple recombination hotspots, suggested that the predominance of the delta-GT mutation in this autosomal recessive form of CGD is caused by recombination events between the wildtype gene and the pseudogene(s). Gene conversion events between homologous genes and their pseudogenes had been described in the pathogenesis of several genetic disorders, such as 21-hydroxylase deficiency (201910), von Willebrand disease (193400), and Gaucher disease (230800). </p><p>Roesler et al. (2000) performed sequence analysis of 28 unrelated, racially diverse patients with the p47-phox-deficient form of CGD and 37 healthy individuals. In 25 patients, the CGD deletion in exon 2 was present in all alleles. Three patients and all healthy individuals contained GTGT and delta-GT sequences, the latter being a characteristic of the NCF1 pseudogene. A total of 22 patients carried additional pseudogene-specific intronic sequences on all alleles, either only in intron 1 or in intron 1 and intron 2, which led to different types of chimeric DNA strands. Roesler et al. (2000) concluded that recombination events between the NCF1 gene and its highly homologous pseudogenes result in the incorporation of delta-GT into the NCF1 gene, thereby leading to the high frequency of GT deletion in CGD patients with the p47-phox-deficient form. </p><p>Roos et al. (2006) identified 7 different mutations and a large deletion in the NCF1 gene in affected individuals from 9 unrelated families with autosomal recessive CGD. In 6 families, the patients were compound heterozygous for the common GT deletion and another pathogenic mutation. Patients from 2 families had a homozygous mutation, and a patient from 1 family was compound heterozygous for 2 mutations (see, e.g., 608512.0005-608512.0007). </p>
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</span>
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<div>
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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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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Clark et al. (1989) concluded that the autosomal form of CGD due to deficiency of NCF1 represents about 33% of all cases of CGD; the autosomal form due to deficiency of NCF2 represents about 5% of cases. </p>
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</span>
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<div>
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<br />
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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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<strong>Heterogeneity</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By haplotype analysis and homozygosity mapping in 15 Tunisian patients with CGD from 14 unrelated families, El Kares et al. (2006) assigned the genetic defect to the NCF1 gene in 5 patients, the NCF2 gene in 4 patients, and the CYBA gene (608508) in 2 patients, and 2 patients appeared to have X-linked CGD. Haplotype analysis of 2 patients from a large consanguineous family showed heterozygosity around the 3 known CGD genes, and X-linked disease was excluded by the presence of a healthy male sib of unaffected parents, suggesting further genetic heterogeneity for CGD. </p>
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</span>
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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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<strong>Gene Therapy</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Sekhsaria et al. (1993) demonstrated that hematopoietic progenitors, which can be harvested from peripheral blood in clinically relevant numbers by apheresis, can be used for gene therapy in this form of CGD. They used a replication-defective retrovirus encoding p47-phox to transduce peripheral blood hematopoietic progenitors (PBHPs) from patients with this disorder and demonstrated significant correction of microbicidal superoxide generation when the PBHPs were differentiated to mature neutrophils and monocytes. </p>
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</span>
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<div>
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<br />
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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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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Holmes et al. (1970) presented evidence suggesting that leukocyte glutathione peroxidase activity (138320) is defective in females with chronic granulomatous disease. Later studies of the patients reported by Holmes et al. (1970) showed normal glutathione peroxidase activity and mutations in the CYBB gene (300481) (Newburger et al., 1994). </p><p>Matsuda et al. (1976) described a male child with CGD who had glutathione peroxidase deficiency. Both parents had an intermediate level of glutathione peroxidase. Data interpreted as indicating deficiency of leukocyte glutathione peroxidase are suspect, however, since investigators using cells from infected normals as controls have not found low GPX (Johnston and Winkelstein, 1982). Furthermore, animals with severe deficiency of GPX are said to have no bactericidal defect. </p><p>Good (1975) listed the Ford familial lipochrome histiocytosis (235900) as type 3 CGD. Corberand et al. (1978) described G6PD-deficient CGD in a female with first-cousin parents. (See 300908 for further discussion of G6PD-deficient CGD.) </p><p>Kimpen et al. (1991) proposed that the autosomal recessive form of CGD might be due to a mutation on 18q because they observed the association of CGD with 18q- syndrome. In fact, the 3 forms of autosomal recessive CGD are known to map to chromosomes 1, 7, and 16. </p>
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</span>
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<div>
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<br />
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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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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Jackson et al. (1995) developed a p47(phox-/-) 'knock-out' CGD mouse that had a phenotype identical to its human counterpart, including increased susceptibility to spontaneous lethal infections. Mardiney et al. (1997) used this CGD mouse model to study retrovirus-mediated gene therapy targeting hematopoietic stem cells to address some of the issues raised in an ongoing human phase 1 clinical study of gene therapy of this form of CGD. Hematopoietic progenitor cells (HPCs) were derived from nonprimed bone marrow, and the recipient mice received a moderate dose of radiation as conditioning before transplantation. Using these conditions, gene therapy in the p47-deficient CGD mice resulted in long-term correction of NADPH oxidase function in a percentage of neutrophils sufficient to restore NADPH oxidase-dependent host-defense function. </p><p>During inflammation, indoleamine 2,3-dioxygenase (IDO; 147435) is upregulated in dendritic cells and phagocytes by proinflammatory stimuli, most notably, IFNG (147570), and the enzyme then uses superoxide as a 'cofactor' for oxidative cleavage of the indole ring of tryptophan, yielding an intermediate that deformylates to L-kynurenine. Romani et al. (2008) demonstrated that a superoxide-dependent step in tryptophan metabolism along the kynurenine pathway is blocked in CGD mice deficient in p47 with lethal pulmonary aspergillosis (see 614079), leading to unrestrained V-gamma-1+ gamma-delta T-cell reactivity, dominant production of interleukin-17 (IL17; 603149), defective regulatory T-cell activity, and acute inflammatory lung injury. Although beneficial effects are induced by IL17 neutralization or gamma-delta T-cell contraction, complete cure and reversal of the hyperinflammatory phenotype are achieved by replacement therapy with a natural kynurenine distal to the blockade in the pathway. Effective therapy, which includes coadministration of recombinant IFNG, restores production of downstream immunoactive metabolites and enables the emergence of regulatory V-gamma-4+ gamma-delta and Foxp3+ (300292) alpha-beta T cells. Therefore, Romani et al. (2008) concluded that paradoxically, the lack of reactive oxygen species contributes to the hyperinflammatory phenotype associated with NADPH oxidase deficiencies, through a dysfunctional kynurenine pathway of tryptophan catabolism. Yet this condition can be reverted by reactivating the pathway downstream of the superoxide-dependent step. </p><p>Deffert et al. (2014) conducted a literature search that found nearly 300 cases of mycobacterial infection in CGD, principally caused by M. bovis bacillus Calmette-Guerin (BCG). The authors then investigated BCG infection in 3 different mouse models of CGD: 2 strains of mice lacking Ncf1 and mice lacking Cybb. All 3 CGD mouse strains were highly susceptible to intravenous BCG infection, manifest as severe weight loss, hemorrhagic pneumonia with high numbers of neutrophils, and 50% mortality. These mice had only moderately increased bacterial load. Macrophage-specific rescue of Cybb restored BCG resistance. Reactive oxygen species was generated in granulomas of wildtype mice, but not CGD mice. Massive increases in the release of the cytokines Tnf (191160), Ifng, Il17, and Il12 (161561), as well as Cxcl1 (155730), a neutrophil chemoattractant, occurred early after infection in CGD mice, possibly explaining disease severity. Macrophages clustered in granulomas in wildtype mice, whereas macrophages were diffusely distributed in lungs of CGD mice. Deffert et al. (2014) concluded that lack of NADPH oxidase leads to markedly increased severity of BCG infection through increased cytokine production and reduced granuloma formation. </p>
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</span>
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<div>
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<br />
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</div>
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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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<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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<strong>Variations on the theme of chronic granulomatous disease.</strong>
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Volpp, B. D., Nauseef, W. M., Clark, R. A.
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<strong>Two cytosolic neutrophil oxidase components absent in autosomal chronic granulomatous disease.</strong>
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Cassandra L. Kniffin - updated : 07/23/2020<br>Paul J. Converse - updated : 10/1/2014<br>Cassandra L. Kniffin - updated : 6/14/2010<br>Ada Hamosh - updated : 1/23/2008<br>Marla J. F. O'Neill - updated : 1/2/2007<br>Cassandra L. Kniffin - updated : 12/29/2006<br>Cassandra L. Kniffin - reorganized : 3/12/2004<br>Deborah L. Stone - updated : 9/11/2001<br>Victor A. McKusick - updated : 8/20/2001<br>Ada Hamosh - updated : 5/24/2000<br>Victor A. McKusick - updated : 4/26/2000<br>Victor A. McKusick - updated : 3/16/1998<br>Victor A. McKusick - updated : 11/7/1997<br>Victor A. McKusick - updated : 5/16/1997
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Victor A. McKusick : 6/3/1986
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