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Entry
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- #306400 - GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGDX
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- OMIM
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<p>
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<span class="h4">#306400</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/306400"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS306400"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#mapping">Mapping</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</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 role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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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 class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=GRANULOMATOUS DISEASE, CHRONIC, X-LINKED" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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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/7978" 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=306400[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=379" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0070195" 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/306400" 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 class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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<div id="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:306400" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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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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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<a id="title" class="mim-anchor"></a>
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<div>
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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> 0070195<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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306400
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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, X-LINKED; CGDX
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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CGD<br />
|
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CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED<br />
|
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CHRONIC GRANULOMATOUS DISEASE, X-LINKED
|
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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="includedTitles" 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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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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CYTOCHROME b-POSITIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, INCLUDED
|
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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|
GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT, INCLUDED<br />
|
|
CHRONIC GRANULOMATOUS DISEASE, ATYPICAL, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/157?start=-3&limit=10&highlight=157">
|
|
Xp21.1-p11.4
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Chronic granulomatous disease, X-linked
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/306400"> 306400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
CYBB
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300481"> 300481 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/306400" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS306400" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/306400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/306400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<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 />
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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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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </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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|
|
- 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 />
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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> IMMUNOLOGY </strong>
|
|
</span>
|
|
</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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|
|
- Deficiency or absence of cytochrome b(-245) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844390&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844390</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003514" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003514</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003514" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003514</a>]</span><br /> -
|
|
Deficiency or absence of p91-phox protein <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844391&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844391</a>]</span><br /> -
|
|
Deficiency or absence of p22-phox (<a href="/entry/608508">608508</a>) protein <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856257&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856257</a>]</span><br /> -
|
|
Negative nitroblue tetrazolium (NBT) reduction test <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844393</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003203" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003203</a>]</span><br /> -
|
|
Decreased activity of NADPH oxidase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844394</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003206" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003206</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003206" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003206</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
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<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset usually in first decade<br /> -
|
|
'Variant' form of X-linked CGD retains residual cytochrome b(-245)<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>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
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|
|
- Caused by mutation in the cytochrome b(-245) beta subunit gene (CYBB, <a href="/entry/300481#0001">300481.0001</a>)<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 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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<h5>
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Granulomatous disease, chronic
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- <a href="/phenotypicSeries/PS306400">PS306400</a>
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- 6 Entries
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<strong>Location</strong>
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<span class="mim-font">
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<a href="/geneMap/1/1490?start=-3&limit=10&highlight=1490"> 1q25.3 </a>
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<span class="mim-font">
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<a href="/entry/233710"> Chronic granulomatous disease 2, autosomal recessive </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<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 class="mim-font">
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<a href="/entry/233710"> 233710 </a>
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<a href="/entry/608515"> NCF2 </a>
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<span class="mim-font">
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<a href="/entry/608515"> 608515 </a>
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<span class="mim-font">
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<a href="/geneMap/7/340?start=-3&limit=10&highlight=340"> 7q11.23 </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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<a href="/entry/233700"> Chronic granulomatous disease 1, autosomal recessive </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 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 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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<span class="mim-font">
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<a href="/entry/608512"> NCF1 </a>
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<span class="mim-font">
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<a href="/entry/608512"> 608512 </a>
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<span class="mim-font">
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<a href="/geneMap/16/730?start=-3&limit=10&highlight=730"> 16q24.2 </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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<a href="/entry/233690"> Chronic granulomatous disease 4, autosomal recessive </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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<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 class="mim-font">
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<a href="/entry/233690"> 233690 </a>
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<span class="mim-font">
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<a href="/entry/608508"> CYBA </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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<a href="/entry/608508"> 608508 </a>
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</span>
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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/17/1068?start=-3&limit=10&highlight=1068"> 17q25.3 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/618935"> Chronic granulomatous disease 5, autosomal recessive </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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<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 class="mim-font">
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<a href="/entry/618935"> 618935 </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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<a href="/entry/618334"> CYBC1 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/618334"> 618334 </a>
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<span class="mim-font">
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<a href="/geneMap/22/229?start=-3&limit=10&highlight=229"> 22q12.3 </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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<a href="/entry/613960"> Chronic granulomatous disease 3, autosomal recessive </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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<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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<span class="mim-font">
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<a href="/entry/613960"> 613960 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601488"> NCF4 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/601488"> 601488 </a>
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<span class="mim-font">
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<a href="/geneMap/X/157?start=-3&limit=10&highlight=157"> Xp21.1-p11.4 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/306400"> Chronic granulomatous disease, X-linked </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="X-linked recessive">XLR</abbr>
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</span>
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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 class="mim-font">
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<a href="/entry/306400"> 306400 </a>
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<span class="mim-font">
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<a href="/entry/300481"> CYBB </a>
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</span>
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<span class="mim-font">
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<a href="/entry/300481"> 300481 </a>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</h4>
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<p>A number sign (#) is used with this entry because of evidence that X-linked chronic granulomatous disease (CGDX) is caused by hemizygous or heterozygous mutation in the gene encoding p91-phox (CYBB; <a href="/entry/300481">300481</a>) on chromosome Xp21.</p>
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<strong>Description</strong>
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<p>X-linked chronic granulomatous disease (CGDX) is a primary immunodeficiency characterized by onset of symptoms in the first months or years of life. Patients present with recurrent infections, lymphadenopathy, inflammatory bowel disease, granulomatous colitis, fever, skin infections, osteomyelitis, and/or abscesses. Infectious organisms usually include Staphylococcus aureus, Burkholderia cepacia, Serrata, Salmonella, mycobacteria, and fungi. The disorder results from impaired function of the phagocytic NADPH oxidase complex, which generates the microbiocidal respiratory burst. Laboratory studies using the DHR assay show impaired phagocytic production of reactive oxygen species in response to PMA stimulation (reviews by <a href="#32" class="mim-tip-reference" title="Dinauer, M. C., Nauseef, W. M., Newburger, P. E. <strong>Inherited disorders of phagocyte killing. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. III. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. Pp. 4857-4887."None>Dinauer et al., 2001</a> and <a href="#57" class="mim-tip-reference" title="Johnston, R. B., Jr. <strong>Clinical aspects of chronic granulomatous disease.</strong> Curr. Opin. Hemat. 8: 17-22, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11138621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11138621</a>] [<a href="https://doi.org/10.1097/00062752-200101000-00004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11138621">Johnston, 2001</a>; summary by <a href="#102" class="mim-tip-reference" title="Song, S.-M., Park, M.-R., Kim, D.-S., Kim, J., Kim, Y.-J., Ki, C.-S., Ahn, K. <strong>Identification of a novel mutation in the CYBB gene, p.Asp378Gly, in a patient with X-linked chronic granulomatous disease.</strong> Allergy Asthma Immun. Res. 6: 366-369, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24991462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24991462</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24991462[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/10.4168/aair.2014.6.4.366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24991462">Song et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24991462+11138621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Chronic Granulomatous Disease</em></strong></p><p>
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Chronic granulomatous disease can be caused by mutation in several genes encoding structural or regulatory subunits of the phagocyte NADPH oxidase complex. See also CGD1 (<a href="/entry/233700">233700</a>), caused by mutation in the NCF1 gene (<a href="/entry/608512">608512</a>) on chromosome 7q11; CGD2 (<a href="/entry/233710">233710</a>), caused by mutation in the NCF2 gene (<a href="/entry/608515">608515</a>) on chromosome 1q25; CGD3 (<a href="/entry/613960">613960</a>), caused by mutation in the NCF4 gene (<a href="/entry/601488">601488</a>) on chromosome 22q13; CGD4 (<a href="/entry/233690">233690</a>), caused by mutation in the CYBA gene (<a href="/entry/608508">608508</a>) on chromosome 16q24; and CGD5 (<a href="/entry/618935">618935</a>) caused by mutation in the CYBC1 gene (<a href="/entry/618334">618334</a>) on chromosome 17q25.</p><p>A similar syndrome, termed neutrophil immunodeficiency syndrome (<a href="/entry/608203">608203</a>), is caused by mutation in another protein involved in the NADPH oxidase complex, RAC2 (<a href="/entry/602049">602049</a>).</p><p><a href="#90" class="mim-tip-reference" title="Roos, D., van Leeuwen, K., Hsu, A. P., Priel, D. L., Begtrup, A., Brandon, R., Rawat, A., Vignesh, P., Madkaikar, M., Stasia, M. J., Bakri, F. G., de Boer, M., and 24 others. <strong>Hematologically important mutations: the autosomal forms of chronic granulomatous disease (third update).</strong> Blood Cells Molec. Dis. 92: 102596, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34547651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34547651</a>] [<a href="https://doi.org/10.1016/j.bcmd.2021.102596" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34547651">Roos et al. (2021)</a> provided a review of autosomal forms of chronic granulomatous disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34547651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#32" class="mim-tip-reference" title="Dinauer, M. C., Nauseef, W. M., Newburger, P. E. <strong>Inherited disorders of phagocyte killing. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. III. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. Pp. 4857-4887."None>Dinauer et al. (2001)</a> suggested that <a href="#54" class="mim-tip-reference" title="Janeway, C. A., Craig, J., Davidson, M., Downey, W., Gitlin, D., Sullivan, J. C. <strong>Hypergammaglobulinemia associated with severe recurrent and chronic nonspecific infection.</strong> Am. J. Dis. Child 88: 388-392, 1954."None>Janeway et al. (1954)</a> first noted CGD in a patient with hypergammaglobulinemia associated with severe recurrent and chronic nonspecific infections, but did not distinguish the disorder as a distinct entity. <a href="#7" class="mim-tip-reference" title="Berendes, H., Bridges, R. A., Good, R. A. <strong>A fatal granulomatosus of childhood: the clinical study of a new syndrome.</strong> Minn. Med. 40: 309-312, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13430573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13430573</a>]" pmid="13430573">Berendes et al. (1957)</a> and <a href="#14" class="mim-tip-reference" title="Bridges, R. A., Berendes, H., Good, R. A. <strong>A fatal granulomatous disease of childhood: the clinical, pathological, and laboratory features of a new syndrome.</strong> AMA J. Dis. Child 97: 387-408, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13636694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13636694</a>]" pmid="13636694">Bridges et al. (1959)</a> identified a new syndrome which they termed 'fatal granulomatosis of childhood.' Four boys had suppurative lymphadenitis, hepatosplenomegaly, pulmonary infiltrates, and eczematoid dermatitis, with findings of granulomas in biopsy and autopsy specimens. <a href="#65" class="mim-tip-reference" title="Landing, B. H., Shirkey, H. S. <strong>A syndrome of recurrent infection and infiltration of viscera by pigmented lipid histiocytes.</strong> Pediatrics 20: 431-447, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13465232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13465232</a>]" pmid="13465232">Landing and Shirkey (1957)</a> described 2 boys with recurrent infection who had infiltration of visceral organs by pigmented lipid histiocytes. <a href="#17" class="mim-tip-reference" title="Carson, M. J., Chadwick, D. L., Brubaker, C. A., Cleland, R. S., Landing, B. H. <strong>Thirteen boys with progressive septic granulomatosis.</strong> Pediatrics 35: 405-412, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14258653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14258653</a>]" pmid="14258653">Carson et al. (1965)</a> reported 16 males in 8 families with a syndrome of chronic suppurative lymphadenitis, chronic dermatitis, chronic pulmonary disease and hepatosplenomegaly with subsequent fatal outcome. Hypergammaglobulinemia was often present. <a href="#88" class="mim-tip-reference" title="Quie, P. G., White, J. G., Holmes, B., Good, R. A. <strong>In vitro bactericidal capacity of human polymorphonuclear leukocytes: diminished activity in chronic granulomatous disease of childhood.</strong> J. Clin. Invest. 46: 668-679, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6021213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6021213</a>] [<a href="https://doi.org/10.1172/JCI105568" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6021213">Quie et al. (1967)</a> observed a form of fatal granulomatous disease in males in an X-linked pedigree pattern. The leukocytes were able to phagocytize staphylococci normally, but were defective in their ability to digest the organism. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6021213+13636694+13465232+14258653+13430573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a series of 6 males with CGD, aged 2 to 22 years, <a href="#68" class="mim-tip-reference" title="Lischner, H. W., Martyn, L. J. <strong>Chorioretinal lesions, sea-blue histiocytes and other manifestations in familial chronic granulomatous disease.</strong> Birth Defects Orig. Art. Ser. XI(1): 73-76, 1975."None>Lischner and Martyn (1975)</a> described chorioretinal lesions, sea-blue histiocytes, and changes misconstrued as indicative of eosinophilic granuloma. <a href="#30" class="mim-tip-reference" title="Dilworth, J. A., Mandell, G. L. <strong>Adults with chronic granulomatous disease of 'childhood'.</strong> Am. J. Med. 63: 233-243, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/407791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">407791</a>] [<a href="https://doi.org/10.1016/0002-9343(77)90237-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="407791">Dilworth and Mandell (1977)</a> reported 4 adult male sibs, aged 28, 30, 32, and 40, who had the onset at age 6 years of serious bacterial infections involving the lungs and lymph nodes followed by a marked decrease in the frequency of infections in their mid-twenties. Sequelae included pulmonary fibrosis, ill-defined polyarthritis and glomerulonephritis. Despite normal morphology and the ability to ingest microbes, postphagocytic polymorphonuclear leukocytes failed to reduce nitroblue tetrazolium (NBT), consume oxygen and produce hydrogen peroxide, and stimulate the hexose monophosphate shunt. G6PD (<a href="/entry/305900">305900</a>) levels were normal. An intermediate quantitative NBT in the mother of the brothers and in a daughter of each of 2 of them supported X-linked recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=407791" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="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> studied 25 patients with CGD. In 18 of 22 clinically typical cases, the complete inability of superoxide generation by granulocytes was associated with the absence of detectable cytochrome b. Mothers, but not fathers, of such male patients showed diminished content of cytochrome b, confirming that the affected gene is localized on the X chromosome. Flavoprotein deficiency found in the granulocytes of 4 male patients was always associated with absence of detectable cytochrome b. Three further patients had a mild form of X-linked CGD; the oxidative activity of their phagocytes and the cytochrome b were diminished but not absent. <a href="#104" class="mim-tip-reference" title="Southwick, F. S., van der Meer, J. W. M. <strong>Recurrent cystitis and bladder mass in two adults with chronic granulomatous disease.</strong> Ann. Intern. Med. 109: 118-121, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3289429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3289429</a>] [<a href="https://doi.org/10.7326/0003-4819-109-2-118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3289429">Southwick and van der Meer (1988)</a> described recurrent episodes of severe cystitis in 2 unrelated men, aged 23 and 20 years, with X-linked CGD. Ultrasonography showed large, discrete bladder masses that mimicked bladder carcinoma in both patients. Prolonged antibiotic therapy was necessary for clearing of the inflammatory bladder masses. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3011845+3289429" 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="#57" class="mim-tip-reference" title="Johnston, R. B., Jr. <strong>Clinical aspects of chronic granulomatous disease.</strong> Curr. Opin. Hemat. 8: 17-22, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11138621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11138621</a>] [<a href="https://doi.org/10.1097/00062752-200101000-00004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11138621">Johnston (2001)</a> reviewed the clinical aspects of CGD. The disorder presents most often with pneumonia, infectious dermatitis, osteomyelitis, and recurrent or severe abscess formation beneath the skin and in the organs of the mononuclear phagocyte system. Tissue examination typically shows microscopic granulomas. The estimated incidence of CGD in the U.S. is 1/200,000 births per year. Of 368 patients with CGD, approximately 76% had the X-linked recessive form, 18% had disease due to p47-phox (NCF1; <a href="/entry/608512">608512</a>) deficiency, 4% due to p67-phox (<a href="/entry/233710">233710</a>) deficiency, and 3% due to p22-phox (<a href="/entry/608508">608508</a>) deficiency. <a href="#57" class="mim-tip-reference" title="Johnston, R. B., Jr. <strong>Clinical aspects of chronic granulomatous disease.</strong> Curr. Opin. Hemat. 8: 17-22, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11138621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11138621</a>] [<a href="https://doi.org/10.1097/00062752-200101000-00004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11138621">Johnston (2001)</a> found that the organisms infecting CGD patients in the 1990's changed markedly from those reported from 1957 to 1976. Initially, Staphylococcus, Klebsiella, and E. coli were the most common organisms, whereas Aspergillus nidulans, Candida, Burkholderia cepacia (formerly Pseudomonas cepacia), and Serratia marcescens had become more prominent since then. Secondary complications in patients with CGD include enteritis/colitis, obstruction of the urinary tract, discoid lupus, and chorioretinitis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11138621" 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="#102" class="mim-tip-reference" title="Song, S.-M., Park, M.-R., Kim, D.-S., Kim, J., Kim, Y.-J., Ki, C.-S., Ahn, K. <strong>Identification of a novel mutation in the CYBB gene, p.Asp378Gly, in a patient with X-linked chronic granulomatous disease.</strong> Allergy Asthma Immun. Res. 6: 366-369, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24991462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24991462</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24991462[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/10.4168/aair.2014.6.4.366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24991462">Song et al. (2014)</a> reported a 3-year-old boy who presented with recurrent persistent pneumonia beginning around 12 months of age. He had fever, oral ulcers, elevated C-reactive protein, abnormal liver enzymes, hepatomegaly, and lymphadenopathy. Cultures identified respiratory syncytial virus (RSV) in nasal swabs and Candida parapsilosis in blood. Liver biopsy showed granuloma formation, and there was evidence of osteomyelitis. Laboratory studies of patient neutrophils showed near absence of reactive oxygen species production upon PMA stimulation, consistent with CGD. The boy received hematopoietic stem cell transplant, which resulted in clinical improvement. Genetic analysis identified a hemizygous missense mutation (D378G) in the CYBB gene that was inherited from his unaffected mother. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24991462" 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="#113" class="mim-tip-reference" title="Zurro, N. B., Tavares de Albuquerque, J. A., Franca, T. T., Vendramini, P., Arslanian, C., Tavares-Scancetti, F., Condino-Neto, A. <strong>A novel mutation in CYBB gene in a patient with chronic colitis and recurrent pneumonia due to X-linked chronic granulomatous disease.</strong> Pediat. Blood Cancer 65: e27382, 2018. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30094936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30094936</a>] [<a href="https://doi.org/10.1002/pbc.27382" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30094936">Zurro et al. (2018)</a> reported a 20-year-old Brazilian man with CGDX. From 1.5 years of age, he had recurrent pneumonia, chronic colitis, and lymphadenopathy. Lung biopsy at age 3 showed granulomatous lesions. He later developed abdominal pain associated with esophageal stenosis and was diagnosed with inflammatory bowel disease. At age 17 years, he developed severe pneumonia. Laboratory studies of patient neutrophils showed an impaired respiratory burst after PMA stimulation compared to controls, diagnostic of CGD. The patient underwent stem cell transplantation with a good outcome. Genetic analysis identified a hemizygous missense mutation (V295E) in the CYBB gene. The mutation was inherited from the patient's clinically unaffected mother. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30094936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Variant or Atypical CGD</em></strong></p><p>
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<a href="#66" class="mim-tip-reference" title="Lew, P. D., Southwick, F. S., Stossel, T. P., Whitin, J. C., Simons, E., Cohen, H. J. <strong>A variant of chronic granulomatous disease: deficient oxidative metabolism due to a low-affinity NADPH oxidase.</strong> New Eng. J. Med. 305: 1329-1333, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6270561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6270561</a>] [<a href="https://doi.org/10.1056/NEJM198111263052207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6270561">Lew et al. (1981)</a> described a man with what the authors termed a 'variant' form of CGD. The disorder resembled CGD in some respects, but differed by showing normal activation of phagocyte membrane oxidase. However, the oxidase showed reduced activity under physiologic conditions because of an apparent altered affinity for reduced NADP. Granulocytes from the patient's mother, but not those of the father, exhibited defective superoxide production, supporting X-linked inheritance. The proband had only mild infections limited to the skin and no history of the usual systemic or visceral infections. At age 16, he developed thrombocytopenia which responded to steroids, and, at age 19, splenectomy. The mother had discoid lupus erythematosus, a disease reported to be associated with the CGD carrier state (<a href="#92" class="mim-tip-reference" title="Schaller, J. <strong>Illness resembling lupus erythematosus in mothers of boys with chronic granulomatous disease.</strong> Ann. Intern. Med. 76: 747-750, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5025325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5025325</a>] [<a href="https://doi.org/10.7326/0003-4819-76-5-747" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5025325">Schaller, 1972</a>). The maternal grandfather had a lifelong history of skin infections and was said to have died of tuberculosis at age 62. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5025325+6270561" 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 general, X-linked CGD is cytochrome b-negative. However, <a href="#11" class="mim-tip-reference" title="Borregaard, N., Cross, A. R., Herlin, T., Jones, O. T. G., Segal, A. W., Valerius, N. H. <strong>A variant form of X-linked chronic granulomatous disease with normal nitroblue tetrazolium slide test and cytochrome b.</strong> Europ. J. Clin. Invest. 13: 243-248, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6409648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6409648</a>] [<a href="https://doi.org/10.1111/j.1365-2362.1983.tb00095.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6409648">Borregaard et al. (1983)</a> reported a family with X-linked cytochrome b-positive CGD. <a href="#24" class="mim-tip-reference" title="Curnutte, J. T. <strong>Classification of chronic granulomatous disease.</strong> Hemat. Oncol. Clin. North Am. 2: 241-252, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2839457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2839457</a>]" pmid="2839457">Curnutte (1988)</a> suggested the existence of another type of CGD that is exceedingly rare and is characterized by X-linked inheritance but normal levels of cytochrome b. He reported 2 brothers with this disorder, referred to 4 other cases with a similar clinical picture, and suggested that these cases are allelic variants. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2839457+6409648" 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="#18" 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 X-linked cytochrome b-negative type of CGD due to deficiency of the beta subunit of cytochrome b represents about 51% of cases of CGD. Another 5% of cases of CGD have an X-linked cytochrome b-positive form, which is allelic to the X-linked cytochrome b-negative form, in which a mutation preserves a functionally defective but detectable cytochrome (see <a href="/entry/300481#0001">300481.0001</a> and <a href="#31" class="mim-tip-reference" title="Dinauer, M. C., Curnutte, J. T., Rosen, H. R., Orkin, S. H. <strong>A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.</strong> J. Clin. Invest. 84: 2012-2016, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2556453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2556453</a>] [<a href="https://doi.org/10.1172/JCI114393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2556453">Dinauer et al., 1989</a>). Patients with this rare cytochrome b-positive X-linked form of CGD were reported by <a href="#1" class="mim-tip-reference" title="Ament, M. E., Ochs, H. D. <strong>Gastrointestinal manifestations of chronic granulomatous disease.</strong> New Eng. J. Med. 288: 382-387, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4684040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4684040</a>] [<a href="https://doi.org/10.1056/NEJM197302222880802" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4684040">Ament and Ochs (1973)</a> and <a href="#79" class="mim-tip-reference" title="Okamura, N., Malawista, S. E., Roberts, R. L., Rosen, H., Ochs, H. D., Babior, B. M., Curnutte, J. T. <strong>Phosphorylation of the oxidase-related 48K phosphoprotein family in the unusual cytochrome-negative and X-linked cytochrome-positive types of chronic granulomatous disease.</strong> Blood 72: 811-816, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3401601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3401601</a>]" pmid="3401601">Okamura et al. (1988)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2556453+3401601+4684040+2770793" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Bolscher, B. G. J. M., de Boer, M., de Klein, A., Weening, R. S., Roos, D. <strong>Point mutations in the beta-subunit of cytochrome b(558) leading to X-linked chronic granulomatous disease.</strong> Blood 77: 2482-2487, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1710153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1710153</a>]" pmid="1710153">Bolscher et al. (1991)</a> classified CGD cases as 'classic' if there was no respiratory burst activity demonstrable in a patient's neutrophils and cytochrome b(558) was absent as determined by absorption spectroscopy; they classified cases as 'variant' when a patient's neutrophils had residual burst activity and residual amounts of cytochrome b(558). These patients may also be referred to as having cytochrome b-positive X-linked CGD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1710153" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Female Carriers</em></strong></p><p>
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The mother of the affected boy described by <a href="#69" class="mim-tip-reference" title="MacFarlane, P. S., Speirs, A. L., Sommerville, R. G. <strong>Fatal granulomatous disease of childhood and benign lymphocytic infiltration of the skin (congenital dysphagocytosis).</strong> Lancet 289: 408-410, 1967. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4163887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4163887</a>] [<a href="https://doi.org/10.1016/s0140-6736(67)91174-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4163887">MacFarlane et al. (1967)</a> had a chronic dermatitis of the neck (Jessner benign lymphocytic infiltration) and a partial defect in phagocytosis demonstrable in vitro that was qualitatively identical to that in her son. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4163887" 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="#109" class="mim-tip-reference" title="Thompson, E. N., Soothill, J. F. <strong>Chronic granulomatous disease: quantitative clinicopathological relationships.</strong> Arch. Dis. Child. 45: 24-32, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4191616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4191616</a>] [<a href="https://doi.org/10.1136/adc.45.239.24" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4191616">Thompson and Soothill (1970)</a> and <a href="#61" class="mim-tip-reference" title="Kragballe, K., Borregaard, N., Brandrup, F., Koch, C., Johansen, K. S. <strong>Relation of monocyte and neutrophil oxidative metabolism to skin and oral lesions in carriers of chronic granulomatous disease.</strong> Clin. Exp. Immun. 43: 390-398, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7273485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7273485</a>]" pmid="7273485">Kragballe et al. (1981)</a> described an increased incidence of cutaneous lupus erythematosus (discoid lupus erythematosus) and recurrent mouth ulcers in female carriers of X-linked CGD. The degree in reduction of superoxide production was closely related to the manifestations of clinical disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4191616+7273485" 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="#39" class="mim-tip-reference" title="Finlay, A. Y., Kingston, H. M., Holt, P. J. A. <strong>Chronic granulomatous disease carrier geno-dermatosis (CGDCGD).</strong> Clin. Genet. 23: 276-280, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6851217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6851217</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1983.tb01876.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6851217">Finlay et al. (1983)</a> suggested that a persistent eruption in light-exposed areas is a manifestation of the CGD heterozygous state. They observed the changes in the mother and sister of an affected boy. Similarities to cutaneous SLE and to Jessner benign lymphocytic infiltration were noted in earlier reports that have emphasized the significance of this finding (<a href="#13" class="mim-tip-reference" title="Brandrup, F., Koch, C., Petri, M., Schiodt, M., Johansen, K. S. <strong>Discoid lupus erythematosus-like lesions and stomatitis in female carriers of X-linked chronic granulomatous disease.</strong> Brit. J. Derm. 104: 495-505, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7236510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7236510</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1981.tb08163.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7236510">Brandrup et al., 1981</a>; <a href="#77" class="mim-tip-reference" title="Nelson, C. E., Dahl, M. V., Goltz, R. W. <strong>Arcuate dermal erythema in a carrier of chronic granulomatous disease.</strong> Arch. Derm. 113: 798-800, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/869551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">869551</a>]" pmid="869551">Nelson et al., 1977</a>; <a href="#92" class="mim-tip-reference" title="Schaller, J. <strong>Illness resembling lupus erythematosus in mothers of boys with chronic granulomatous disease.</strong> Ann. Intern. Med. 76: 747-750, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5025325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5025325</a>] [<a href="https://doi.org/10.7326/0003-4819-76-5-747" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5025325">Schaller, 1972</a>). <a href="#39" class="mim-tip-reference" title="Finlay, A. Y., Kingston, H. M., Holt, P. J. A. <strong>Chronic granulomatous disease carrier geno-dermatosis (CGDCGD).</strong> Clin. Genet. 23: 276-280, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6851217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6851217</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1983.tb01876.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6851217">Finlay et al. (1983)</a> called this CGDCGD (carrier genodermatosis of chronic granulomatous disease) and suggested that the skin disorder can be a useful guide in genetic counseling and prenatal diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5025325+869551+7236510+6851217" 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="#110" class="mim-tip-reference" title="Windhorst, D. B., Holmes, B., Good, R. A. <strong>A newly defined X-linked trait in man with demonstration of the Lyon effect in carrier females.</strong> Lancet 289: 737-739, 1967. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4164116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4164116</a>] [<a href="https://doi.org/10.1016/s0140-6736(67)91360-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4164116">Windhorst et al. (1967)</a> did family studies establishing X-linked recessive inheritance of CGD, and demonstrating 2 populations of leukocytes in heterozygous females. Controversy over whether the inheritance is X-linked or autosomal was illustrated by the letter of <a href="#111" class="mim-tip-reference" title="Windhorst, D. B. <strong>Inheritance of chronic granulomatous disease. (Letter)</strong> Lancet 294: 543-544, 1969. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4184856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4184856</a>] [<a href="https://doi.org/10.1016/s0140-6736(69)90239-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4184856">Windhorst (1969)</a> and accompanying reply. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4184856+4164116" 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="#73" class="mim-tip-reference" title="Matthay, K. K., Golbus, M. S., Wara, D. W., Mentzer, W. C. <strong>Prenatal diagnosis of chronic granulomatous disease.</strong> Am. J. Med. Genet. 17: 731-739, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6720741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6720741</a>] [<a href="https://doi.org/10.1002/ajmg.1320170404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6720741">Matthay et al. (1984)</a> described a luminol enhanced chemiluminescence micromethod used for prenatal diagnosis of CGD. Fetal blood was useful, whereas amniocytes were not. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6720741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="de Boer, M., Bolscher, B. G. J. M., Sijmons, R. H., Scheffer, H., Weening, R. S., Roos, D. <strong>Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction.</strong> Prenatal Diag. 12: 773-777, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1438069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1438069</a>] [<a href="https://doi.org/10.1002/pd.1970120910" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1438069">De Boer et al. (1992)</a> reported successful prenatal diagnosis of CGD using PCR. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1438069" 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>During phagocytosis, neutrophils undergo the 'respiratory burst,' an oxidative response in which highly reactive bactericidal oxidative metabolites, including superoxide, hydrogen peroxide, hydroxyl radicals, and perhaps singlet oxygen, are formed within the intact phagocyte. The NADPH oxidase complex is responsible for the respiratory burst. <a href="#98" 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/?cmd=link&linkname=pubmed_pubmed&from_uid=2861323" 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 patients with CGD, <a href="#6" class="mim-tip-reference" title="Baehner, R. L., Nathan, D. G. <strong>Leukocyte oxidase: defective activity in chronic granulomatous disease.</strong> Science 155: 835-836, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6018195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6018195</a>] [<a href="https://doi.org/10.1126/science.155.3764.835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6018195">Baehner and Nathan (1967)</a> demonstrated a defect in a leukocyte oxidase; the intact leukocytes failed to reduce the redox dye nitroblue tetrazolium or to show increased oxygen consumption during phagocytosis. <a href="#4" class="mim-tip-reference" title="Baehner, R. L., Karnovsky, M. L. <strong>Deficiency of reduced nicotinamide-adenine dinucleotide oxidase in chronic granulomatous disease.</strong> Science 162: 1277-1279, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4387010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4387010</a>] [<a href="https://doi.org/10.1126/science.162.3859.1277" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4387010">Baehner and Karnovsky (1968)</a> found deficiency of reduced nicotinamide-adenine dinucleotide oxidase of polymorphonuclear leukocytes in 5 patients with CGD. In cells from patients with CGD, <a href="#88" class="mim-tip-reference" title="Quie, P. G., White, J. G., Holmes, B., Good, R. A. <strong>In vitro bactericidal capacity of human polymorphonuclear leukocytes: diminished activity in chronic granulomatous disease of childhood.</strong> J. Clin. Invest. 46: 668-679, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6021213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6021213</a>] [<a href="https://doi.org/10.1172/JCI105568" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6021213">Quie et al. (1967)</a> found diminished activity of the bacterial capacity of polymorphonuclear leukocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4387010+6021213+6018195" 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 patients with CGD, <a href="#23" class="mim-tip-reference" title="Curnutte, J. T., Whitten, D. M., Babior, B. M. <strong>Defective superoxide production by granulocytes from patients with chronic granulomatous disease.</strong> New Eng. J. Med. 290: 593-597, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4359964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4359964</a>] [<a href="https://doi.org/10.1056/NEJM197403142901104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4359964">Curnutte et al. (1974)</a> found low levels of superoxide production; both patients were male (<a href="#3" class="mim-tip-reference" title="Babior, B. M. <strong>Personal Communication.</strong> Boston, Mass. 3/26/1974."None>Babior, 1974</a>). In granulocyte samples from 3 patients with X-linked CGD, <a href="#22" class="mim-tip-reference" title="Curnutte, J. T., Kipnes, R. S., Babior, B. M. <strong>Defect in pyridine nucleotide dependent superoxide production by a particulate fraction from the granulocytes of patients with chronic granulomatous disease.</strong> New Eng. J. Med. 293: 628-632, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/239342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">239342</a>] [<a href="https://doi.org/10.1056/NEJM197509252931303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="239342">Curnutte et al. (1975)</a> found that the cells produced no detectable superoxide. The failure was not due to an inhibitor. Samples from the mothers of 2 of the patients produced superoxide at diminished rate, whereas samples from the third mother had normal superoxide production. <a href="#47" class="mim-tip-reference" title="Hohn, D. C., Lehrer, R. I. <strong>Identification of the defect in X-linked chronic granulomatous disease. (Abstract)</strong> Clin. Res. 22: 394A only, 1974."None>Hohn and Lehrer (1974)</a> found deficiency of NADPH oxidase as the presumed basic defect in X-linked CGD. In neutrophils from a patient with CGD, <a href="#96" class="mim-tip-reference" title="Segal, A. W., Peters, T. J. <strong>Characterisation of the enzyme defect in chronic granulomatous disease.</strong> Lancet 307: 1363-1365, 1976. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/59010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">59010</a>] [<a href="https://doi.org/10.1016/s0140-6736(76)93021-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="59010">Segal and Peters (1976)</a> demonstrated a defect in an NADH-dependent enzyme located in the plasma membrane that reduces NBT. <a href="#74" class="mim-tip-reference" title="McPhail, L. C., DeChatelet, L. R., Shirley, P. S., Wilfert, C., Johnston, R. B., Jr., McCall, C. E. <strong>Deficiency of NADPH oxidase activity in chronic granulomatous disease.</strong> J. Pediat. 90: 213-217, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12254</a>] [<a href="https://doi.org/10.1016/s0022-3476(77)80632-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12254">McPhail et al. (1977)</a> also presented evidence that NADPH oxidase activity is deficient in CGD and suggested that a failure of activation of the enzyme underlies the deficiency. Of the 9 patients studied, 7 were considered to have the autosomal recessive and 2 the X-linked type. No physiologic difference between the types was detected. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=59010+239342+4359964+12254" 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 neutrophils of patients with CGD, <a href="#97" class="mim-tip-reference" title="Segal, A. W., Webster, D., Jones, O. T. G., Allison, A. C. <strong>Absence of a newly described cytochrome b from neutrophils of patients with chronic granulomatous disease.</strong> Lancet 312: 446-449, 1978. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/79807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">79807</a>] [<a href="https://doi.org/10.1016/s0140-6736(78)91445-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="79807">Segal et al. (1978)</a> demonstrated absence of a newly described heme-containing cytochrome b(-245). Obligatory CGD heterozygotes showed intermediate levels of the cytochrome b. The authors noted that the burst of oxygen metabolism associated with phagocytosis is not to provide energy for the cells, but rather is involved in the bacterial killing process. Due to the defect in the oxygen-dependent microbicidal system in CGD, neutrophils are unable to kill certain bacteria, particularly those that contain catalase and can catabolize hydrogen peroxide. The cytochrome b deficient in CGD is independent of cytochrome P450 of the endoplasmic reticulum and of mitochondrial cytochrome oxidase. <a href="#95" 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 undetectable in 19 males with presumed X-linked CGD; heterozygous female relatives had reduced concentrations of the cytochrome and variable proportions of cells that were unable to generate superoxide, these 2 characteristics being closely correlated. Of the 19 cases, 3 were sporadic with no carrier females in the family. In all 8 patients, including 7 women, with a probable autosomal recessive form of CGD, the cytochrome was present but nonfunctional. <a href="#95" 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> reported an Asian family with affected females with depressed levels and function of cytochrome b(-245). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=79807+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><a href="#107" class="mim-tip-reference" title="Tauber, A. I. <strong>Current views of neutrophil dysfunction: an integrated clinical perspective.</strong> Am. J. Med. 70: 1237-1246, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7015856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7015856</a>] [<a href="https://doi.org/10.1016/0002-9343(81)90833-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7015856">Tauber (1981)</a> gave a useful analysis of neutrophil dysfunction, dividing disorders into those of each of the 4 behaviors or functions of the neutrophil: chemotaxis, phagocytosis, degranulation, and oxidative metabolism. Disorders of granule function include absent enzymes and abnormal granule formation. <a href="#107" class="mim-tip-reference" title="Tauber, A. I. <strong>Current views of neutrophil dysfunction: an integrated clinical perspective.</strong> Am. J. Med. 70: 1237-1246, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7015856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7015856</a>] [<a href="https://doi.org/10.1016/0002-9343(81)90833-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7015856">Tauber (1981)</a> reviewed the evidence indicating the genetic heterogeneity of chronic granulomatous disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7015856" 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="#99" class="mim-tip-reference" title="Segal, A. W. <strong>Absence of both cytochrome b-245 subunits from neutrophils in X-linked chronic granulomatous disease.</strong> Nature 326: 88-91, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3821877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3821877</a>] [<a href="https://doi.org/10.1038/326088a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3821877">Segal (1987)</a> determined that cytochrome b is composed of 2 closely linked subunits with approximate molecular masses of 23 kD and 91 kD. In 5 patients with X-linked CGD, neither protein was detected. <a href="#84" class="mim-tip-reference" title="Parkos, C. A., Dinauer, M. C., Jesaitis, A. J., Orkin, S. H., Curnutte, J. T. <strong>Absence of both the 91kD and 22kD subunits of human neutrophil cytochrome b in two genetic forms of chronic granulomatous disease.</strong> Blood 73: 1416-1420, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2713485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2713485</a>]" pmid="2713485">Parkos et al. (1989)</a> found that neither cytochrome b subunit, p22-phox or p91-phox, could be detected in neutrophils from 3 patients with X-linked cytochrome b-negative CGD or in 4 patients with autosomal cytochrome b-negative CGD. The authors concluded that the stable expression of either of the 2 subunits is dependent upon the other. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2713485+3821877" 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="#58" 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 genetic defects in CGD may occur at many levels, since it is an enzyme system rather than a single enzyme involved in the transmission of electrons during the respiratory burst. Potential affected steps include stimulation of the cell membrane; apposition of membrane-bound components of the machinery of the respiratory burst; the cytoskeleton which may control movement of membrane or cytoplasmic components; one or more enzymes that reduced cytochrome b(-245); the amount of the cytochrome present; the intimate nature of the cytochrome itself. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=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>Variant forms of CGD, both X-linked and autosomal, have been described in which the patients' phagocytes respond to some but not to all stimuli of the oxidase system (<a href="#106" class="mim-tip-reference" title="Tauber, A. I., Borregaard, N., Simons, E., Wright, J. <strong>Chronic granulomatous disease: a syndrome of phagocyte oxidase deficiencies.</strong> Medicine 62: 286-309, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6353131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6353131</a>]" pmid="6353131">Tauber et al., 1983</a>). Defects in the activation system may lead to CGD, as well as absence or defect in a component of the complex oxidase system that generates superoxide and hydrogen peroxide. When monocytes from the X-linked and autosomal forms of CGD were fused, <a href="#44" 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 the hybrid cells were cytochrome-b-positive and expressed NBT-reductase activity in the presence of phorbol myristate acetate (PMA). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6353131+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><a href="#16" class="mim-tip-reference" title="Buescher, E. S., Alling, D. W., Gallin, J. I. <strong>Use of an X-linked human neutrophil marker to estimate timing of lyonization and size of the dividing stem cell pool.</strong> J. Clin. Invest. 76: 1581-1584, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3863835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3863835</a>] [<a href="https://doi.org/10.1172/JCI112140" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3863835">Buescher et al. (1985)</a> used the ability or lack of ability to reduce NBT dye to identify 2 populations of white cells in females heterozygous for CGD. The findings in 11 heterozygotes were consistent with lyonization at a stage when 8 embryonic founder cells for the hematopoietic system were present. Individuals showed little variation, most of it attributable to experimental error among serial determinations. The variation remaining after accounting for experimental error suggests the existence of more than 400 pluripotent stem cells supporting hematopoiesis. Similar studies have been done using G6PD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3863835" 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="#40" class="mim-tip-reference" title="Francke, U., Ochs, H. D., de Martinville, B., Giacalone, J., Lindgren, V., Disteche, C., Pagon, R. A., Hofker, M. H., van Ommen, G.-J. B., Pearson, P. L., Wedgwood, R. J. <strong>Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.</strong> Am. J. Hum. Genet. 37: 250-267, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4039107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4039107</a>]" pmid="4039107">Francke et al. (1985)</a> studied a male patient with 3 X-linked disorders: chronic granulomatous disease with cytochrome b(-245) deficiency and McLeod red cell phenotype (<a href="/entry/300842">300842</a>), Duchenne muscular dystrophy (<a href="/entry/310200">310200</a>), and retinitis pigmentosa (see RP3, <a href="/entry/300029">300029</a>). A subtle interstitial deletion of part of Xp21 was demonstrated as the presumed basis of this 'contiguous gene syndrome.' The close clustering of CGD, DMD and RP suggested by these findings was inconsistent with separate linkage data (see HISTORY and <a href="#29" class="mim-tip-reference" title="Densen, P., Wilkinson-Kroovand, S., Mandell, G. L., Sullivan, G., Oyen, R., Marsh, W. L. <strong>Kx: its relationship to chronic granulomatous disease and genetic linkage with Xg.</strong> Blood 58: 34-37, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7236890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7236890</a>]" pmid="7236890">Densen et al., 1981</a>), which indicated that McLeod and CGD are close to Xg and that DMD and RP are far from Xg. <a href="#40" class="mim-tip-reference" title="Francke, U., Ochs, H. D., de Martinville, B., Giacalone, J., Lindgren, V., Disteche, C., Pagon, R. A., Hofker, M. H., van Ommen, G.-J. B., Pearson, P. L., Wedgwood, R. J. <strong>Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.</strong> Am. J. Hum. Genet. 37: 250-267, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4039107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4039107</a>]" pmid="4039107">Francke et al. (1985)</a> suggested that the deletion may contain a single defect affecting perhaps a cell membrane component which underlies all 3 disorders. Using a method for cloning the specific DNA fragment absent in patients homozygous or hemizygous for chromosomal deletions, <a href="#63" class="mim-tip-reference" title="Kunkel, L. M., Monaco, A. P., Middlesworth, W., Ochs, H. D., Latt, S. A. <strong>Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.</strong> Proc. Nat. Acad. Sci. 82: 4778-4782, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2991893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2991893</a>] [<a href="https://doi.org/10.1073/pnas.82.14.4778" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2991893">Kunkel et al. (1985)</a> confirmed a minute interstitial deletion of Xp21 in the patient reported by <a href="#40" class="mim-tip-reference" title="Francke, U., Ochs, H. D., de Martinville, B., Giacalone, J., Lindgren, V., Disteche, C., Pagon, R. A., Hofker, M. H., van Ommen, G.-J. B., Pearson, P. L., Wedgwood, R. J. <strong>Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.</strong> Am. J. Hum. Genet. 37: 250-267, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4039107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4039107</a>]" pmid="4039107">Francke et al. (1985)</a>; see <a href="/entry/300679">300679</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4039107+7236890+2991893" 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>Using cloned, polymorphic DNA probes, <a href="#5" class="mim-tip-reference" title="Baehner, R. L., Kunkel, L. M., Monaco, A. P., Haines, J. L., Conneally, P. M., Palmer, C., Heerema, N., Orkin, S. H. <strong>DNA linkage analysis of X chromosome-linked chronic granulomatous disease.</strong> Proc. Nat. Acad. Sci. 83: 3398-3401, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3010296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3010296</a>] [<a href="https://doi.org/10.1073/pnas.83.10.3398" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3010296">Baehner et al. (1986)</a> mapped CGD to Xp21.2-p21.1, proximal to DMD. CGD lies in a region of Xp that appears to have more recombination than anticipated on the basis of physical distance between markers. This linkage assignment is inconsistent with the linkage to Xg, but entirely consistent with the findings in the boy reported by <a href="#40" class="mim-tip-reference" title="Francke, U., Ochs, H. D., de Martinville, B., Giacalone, J., Lindgren, V., Disteche, C., Pagon, R. A., Hofker, M. H., van Ommen, G.-J. B., Pearson, P. L., Wedgwood, R. J. <strong>Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.</strong> Am. J. Hum. Genet. 37: 250-267, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4039107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4039107</a>]" pmid="4039107">Francke et al. (1985)</a> with an interstitial deletion of Xp21, The earlier data on linkage to Xg were apparently in error. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3010296+4039107" 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="#36" class="mim-tip-reference" title="Ezekowitz, R. A. B., Dinauer, M. C., Jaffe, H. S., Orkin, S. H., Newburger, P. E. <strong>Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma.</strong> New Eng. J. Med. 319: 146-151, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2838754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2838754</a>] [<a href="https://doi.org/10.1056/NEJM198807213190305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2838754">Ezekowitz et al. (1988)</a> attempted a therapeutic trial using interferon-gamma (IFNG; <a href="/entry/147570">147570</a>), an activator of phagocytes, in CGD. They observed a 5- to 10-fold increase in superoxide production by granulocytes and monocytes, a proportionate rise in granulocyte bactericidal activity, and an increase in the cellular contents of phagocyte cytochrome b and immunoreactive cytochrome b heavy chain. The findings of <a href="#36" class="mim-tip-reference" title="Ezekowitz, R. A. B., Dinauer, M. C., Jaffe, H. S., Orkin, S. H., Newburger, P. E. <strong>Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma.</strong> New Eng. J. Med. 319: 146-151, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2838754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2838754</a>] [<a href="https://doi.org/10.1056/NEJM198807213190305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2838754">Ezekowitz et al. (1988)</a> motivated multicenter groups to perform double-blinded clinical studies of IFN-gamma as a prophylactic agent in CGD, which demonstrated its clinical benefit in most patients. In these group studies, however, no apparent increases in phagocyte superoxide generation were observed. For that reason, the patient studied by <a href="#36" class="mim-tip-reference" title="Ezekowitz, R. A. B., Dinauer, M. C., Jaffe, H. S., Orkin, S. H., Newburger, P. E. <strong>Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma.</strong> New Eng. J. Med. 319: 146-151, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2838754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2838754</a>] [<a href="https://doi.org/10.1056/NEJM198807213190305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2838754">Ezekowitz et al. (1988)</a> was considered to be an exceptional case. <a href="#89" class="mim-tip-reference" title="Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., Hopkins, P. J., Kuruto, R., Curnutte, J. T. <strong>X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.</strong> Am. J. Hum. Genet. 62: 1320-1331, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585602</a>] [<a href="https://doi.org/10.1086/301874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585602">Rae et al. (1998)</a> showed that the patient of <a href="#36" class="mim-tip-reference" title="Ezekowitz, R. A. B., Dinauer, M. C., Jaffe, H. S., Orkin, S. H., Newburger, P. E. <strong>Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma.</strong> New Eng. J. Med. 319: 146-151, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2838754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2838754</a>] [<a href="https://doi.org/10.1056/NEJM198807213190305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2838754">Ezekowitz et al. (1988)</a> had a single-base substitution in the sixth position of the first intron of the CYBB gene (<a href="/entry/300481#0020">300481.0020</a>). <a href="#19" class="mim-tip-reference" title="Condino-Neto, A., Newburger, P. E. <strong>Interferon-gamma improves splicing efficiency of CYBB gene transcripts in an interferon-responsive variant of chronic granulomatous disease due to a splice site consensus region mutation.</strong> Blood 95: 3548-3554, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10828042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10828042</a>]" pmid="10828042">Condino-Neto and Newburger (2000)</a> proposed that IFN-gamma improved the splicing efficiency of CYBB gene transcripts in that patient and corrected a nuclear processing defect due to the intronic mutation by augmenting nuclear export of normal transcripts. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2838754+9585602+10828042" 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="#51" class="mim-tip-reference" title="Ishibashi, F., Mizukami, T., Kanegasaki, S., Motoda, L., Kakinuma, R., Endo, F., Nunoi, H. <strong>Improved superoxide-generating ability by interferon-gamma due to splicing pattern change of transcripts in neutrophils from patients with a splice site mutation in CYBB gene.</strong> Blood 98: 436-441, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11435314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11435314</a>] [<a href="https://doi.org/10.1182/blood.v98.2.436" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11435314">Ishibashi et al. (2001)</a> demonstrated an IFN-gamma-dependent increase of superoxide production associated with a change in the mRNA splicing pattern of CYBB gene transcripts in neutrophils from 3 patients in 1 family who had a silent mutation adjacent to intron 3 of the CYBB gene (<a href="/entry/300481#0015">300481.0015</a>). They found significant differences in the splicing pattern of CYBB gene transcripts in patient neutrophils between days 1 and 25 after administration of IFN-gamma. Furthermore, a complete transcript containing the missing exons was detected in all specimens after the treatment. The changes in the splicing pattern of the transcripts and the prolonged effect on superoxide-generating ability of the patients' neutrophils indicated that IFN-gamma induced a partial correction of the abnormal splicing of CYBB gene transcripts in myeloid progenitor cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11435314" 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="#46" class="mim-tip-reference" title="Ho, C. M. L., Vowels, M. R., Lockwood, L., Ziegler, J. B. <strong>Successful bone marrow transplantation in a child with X-linked chronic granulomatous disease.</strong> Bone Marrow Transplant. 18: 213-215, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8832019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8832019</a>]" pmid="8832019">Ho et al. (1996)</a> reported successful bone marrow transplantation (BMT) in a 16-month-old Australian Aboriginal boy. His HLA-identical brother was the donor. The authors reviewed 5 previous reports on BMT in patients with X-linked CGD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8832019" 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="#50" class="mim-tip-reference" title="Horwitz, M. E., Barrett, A. J., Brown, M. R., Carter, C. S., Childs, R., Gallin, J. I., Holland, S. M., Linton, G. F., Miller, J. A., Leitman, S. F., Read, E. J., Malech, H. L. <strong>Treatment of chronic granulomatous disease with nonmyeloablative conditioning and a T-cell-depleted hematopoietic allograft.</strong> New Eng. J. Med. 344: 881-888, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11259721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11259721</a>] [<a href="https://doi.org/10.1056/NEJM200103223441203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11259721">Horwitz et al. (2001)</a> treated 10 male patients with CGD by transplantation of peripheral blood stem cells from an HLA-identical sib after undergoing a nonmyeloablative conditioning regimen consisting of cyclophosphamide, fludarabine, and antithymocyte globulin. The allograft was depleted of T cells to reduce the risk of severe graft-versus-host disease (GVHD; see <a href="/entry/614395">614395</a>). To reduce the risk of graft rejection, donor lymphocytes were infused at intervals after transplantation, according to a predetermined regimen. After a median follow-up of 17 months, the proportion of donor neutrophils in the circulation in 8 of 10 patients was 33 to 100%, a level that could be expected to provide normal host defense; in 6 patients the proportion was 100%. In 2 patients, graft rejection occurred. Preexisting granulomatous lesions resolved in the patients in whom transplantation was successful. Eight of the patients had the p91-phox founder disease; 1 patient each had the p22-phox form and the p47-phox form. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11259721" 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="#67" 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><p>In a placebo-controlled study, <a href="#42" class="mim-tip-reference" title="Gallin, J. I., Alling, D. W., Malech, H. L., Wesley, R., Koziol, D., Marciano, B., Eisenstein, E. M., Turner, M. L., DeCarlo, E. S., Starling, J. M., Holland, S. M. <strong>Itraconazole to prevent fungal infections in chronic granulomatous disease.</strong> New Eng. J. Med. 348: 2416-2422, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12802027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12802027</a>] [<a href="https://doi.org/10.1056/NEJMoa021931" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12802027">Gallin et al. (2003)</a> found that itraconazole is an effective and well-tolerated prophylaxis for fungal infections in chronic granulomatous disease. <a href="#64" class="mim-tip-reference" title="Lagakos, S. W. <strong>Clinical trials and rare diseases. (Editorial)</strong> New Eng. J. Med. 348: 2455-2456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12802033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12802033</a>] [<a href="https://doi.org/10.1056/NEJMe030024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12802033">Lagakos (2003)</a> commented on the fact that the trial required 10 years to enroll just 39 patients, thus illustrating some of the problems and options that arise in the design of clinical trials for new therapies for rare diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12802027+12802033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Gene Therapy</em></strong></p><p>
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<a href="#87" class="mim-tip-reference" title="Porter, C. D., Parkar, M. H., Levinsky, R. J., Collins, M. K. L., Kinnon, C. <strong>X-linked chronic granulomatous disease: correction of NADPH oxidase defect by retrovirus-mediated expression of gp91-phox.</strong> Blood 82: 2196-2202, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8400270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8400270</a>]" pmid="8400270">Porter et al. (1993)</a> used retrovirus-mediated expression of gp91-phox to reconstitute functionally NADPH oxidase activity in B-cell lines from 3 unrelated patients with X-linked CGD. The protein was glycosylated and membrane-associated, and the reconstituted oxidase was appropriately activated via protein kinase C. The kinetics of superoxide production by such reconstituted cells was similar to that of normal B-cell lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8400270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#37" class="mim-tip-reference" title="Ezekowitz, R. A. B. <strong>What is the best way to treat inherited disorders? (Editorial)</strong> New Eng. J. Med. 344: 926-927, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11259728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11259728</a>] [<a href="https://doi.org/10.1056/NEJM200103223441210" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11259728">Ezekowitz (2001)</a> raised the possibility that the ability to purify and manipulate stem cells from bone marrow (<a href="#82" class="mim-tip-reference" title="Orkin, S. H. <strong>Stem cell alchemy.</strong> Nature Med. 6: 1212-1213, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062526</a>] [<a href="https://doi.org/10.1038/81303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062526">Orkin, 2000</a>) may provide new approaches to somatic gene therapy. The possibility that single-gene defects could be repaired in autologous stem cells ex vivo and, on return to the patient, home selectively to the organ of choice seemed within reach. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11062526+11259728" 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="#83" class="mim-tip-reference" title="Ott, M. G., Schmidt, M., Schwarzwaelder, K., Stein, S., Siler, U., Koehl, U., Glimm, H., Kuhlcke, K., Schilz, A., Kunkel, H., Naundorf, S., Brinkmann, A., and 15 others. <strong>Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16, or SETBP1.</strong> Nature Med. 12: 401-409, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16582916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16582916</a>] [<a href="https://doi.org/10.1038/nm1393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16582916">Ott et al. (2006)</a> reported successful treatment of X-linked CGD in 2 unrelated patients with myelosuppression followed by gene therapy using a monocistronic gamma-retroviral vector expressing the p91-phox gene to transform peripheral blood cells. Gene-modified cells predominantly in the myeloid fraction were detected as early as 21 days post-reinfusion and persisted over a year later accompanied by clinical improvement in both patients. Analysis of retroviral integration sites showed clustering of activating insertions in or near the PR domain-containing zinc finger genes MDS1 (<a href="/entry/600049">600049</a>)-EVI1 (<a href="/entry/165215">165215</a>) or PRDM16 (<a href="/entry/605557">605557</a>), or the SETBP1 gene that influenced regulation of long-term hematopoiesis by expanding gene-corrected myelopoiesis 3- to 4-fold in both individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16582916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with cytochrome b-positive X-linked CGD, <a href="#31" class="mim-tip-reference" title="Dinauer, M. C., Curnutte, J. T., Rosen, H. R., Orkin, S. H. <strong>A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.</strong> J. Clin. Invest. 84: 2012-2016, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2556453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2556453</a>] [<a href="https://doi.org/10.1172/JCI114393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2556453">Dinauer et al. (1989)</a> identified a mutation in the gene encoding the cytochrome b heavy chain (CYBB; <a href="/entry/300481#0001">300481.0001</a>). In 6 patients with X-linked CGD, both cytochrome b-negative and cytochrome b-positive forms, <a href="#10" class="mim-tip-reference" title="Bolscher, B. G. J. M., de Boer, M., de Klein, A., Weening, R. S., Roos, D. <strong>Point mutations in the beta-subunit of cytochrome b(558) leading to X-linked chronic granulomatous disease.</strong> Blood 77: 2482-2487, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1710153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1710153</a>]" pmid="1710153">Bolscher et al. (1991)</a> identified 6 different point mutations in the CYBB gene (<a href="/entry/300481#0002">300481.0002</a>-<a href="/entry/300481#0007">300481.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2556453+1710153" 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="#91" class="mim-tip-reference" title="Roos, D. <strong>The genetic basis of chronic granulomatous disease.</strong> Immun. Rev. 138: 121-157, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8070813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8070813</a>] [<a href="https://doi.org/10.1111/j.1600-065x.1994.tb00850.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8070813">Roos (1994)</a> reviewed 4 genetic forms of chronic granulomatous disease. <a href="#20" class="mim-tip-reference" title="Cross, A. R., Curnutte, J. T., Rae, J., Heyworth, P. G. <strong>Hematologically important mutations: X-linked chronic granulomatous disease.</strong> Blood Cells Mol. Dis. 22: 90-95, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8807090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8807090</a>] [<a href="https://doi.org/10.1006/bcmd.1996.0013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8807090">Cross et al. (1996)</a> tabulated 123 mutations in the CYBB gene known to cause chronic granulomatous disease. <a href="#45" class="mim-tip-reference" title="Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., Cross, A. R. <strong>Hematologically important mutations: X-linked chronic granulomatous disease--an update.</strong> Blood Cells Molec. Dis. 23: 443-450, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9454688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9454688</a>] [<a href="https://doi.org/10.1006/bcmd.1997.0163" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9454688">Heyworth et al. (1997)</a> presented updated tables containing 64 newly identified mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9454688+8070813+8807090" 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="#2" class="mim-tip-reference" title="Ariga, T., Furuta, H., Cho, K., Sakiyama, Y. <strong>Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers.</strong> Pediat. Res. 44: 85-92, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9667376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9667376</a>] [<a href="https://doi.org/10.1203/00006450-199807000-00014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9667376">Ariga et al. (1998)</a> concluded that the proportion of sporadic cases of CGD, i.e., patients in whom the mother is not a carrier, is very low, and that the proportion of sporadic carriers, i.e., mothers who inherited a new mutation, is high. These results suggested that the mutation for the disease originates mainly in male gametes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9667376" 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="#85" class="mim-tip-reference" title="Patino, P. J., Perez, J. E., Lopez, J. A., Condino-Neto, A., Grumach, A. S., Botero, J. H., Curnutte, J. T., Garcia de Olarte, D. <strong>Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox.</strong> Hum. Mutat. 13: 29-37, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9888386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9888386</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:1<29::AID-HUMU3>3.0.CO;2-X" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9888386">Patino et al. (1999)</a> reported the molecular characterization of 7 unrelated kindreds with CGD from Colombia and Brazil. In 6 of these kindreds, all mothers were carriers; in the seventh, the mutation was de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9888386" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#52" class="mim-tip-reference" title="Ishibashi, F., Nunoi, H., Endo, F., Matsuda, I., Kanegasaki, S. <strong>Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.</strong> Hum. Genet. 106: 473-481, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10914676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10914676</a>] [<a href="https://doi.org/10.1007/s004390000288" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10914676">Ishibashi et al. (2000)</a> reported a statistical analysis of 229 patients from 195 families with chronic granulomatous disease in Japan and described the findings of mutation analysis of 28 and 5 unrelated patients, respectively, with gp91- and p22-phox deficiency. The ratio of male to female patients was 6.6/1, the incidence was calculated to be about 1 in 220,000 births, and the life expectancy of the patients born in the 1970s was estimated to be about 25 to 30 years. A total of 9 patients from 8 families had been found in Japan with CGD in combination with retinitis pigmentosa. Three families had a large deletion involving the CYBB gene. One patient had X-CGD in combination with McLeod syndrome (<a href="/entry/300842">300842</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10914676" 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="#62" class="mim-tip-reference" title="Kumatori, A., Faizunnessa, N. N., Suzuki, S., Moriuchi, T., Kurozumi, H., Nakamura, M. <strong>Nonhomologous recombination between the cytochrome b-558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease.</strong> Genomics 53: 123-128, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9790760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9790760</a>] [<a href="https://doi.org/10.1006/geno.1998.5510" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9790760">Kumatori et al. (1998)</a> concluded that nonhomologous recombination between the CYBB gene and a LINE-1 element lies 5-kb upstream of CYBB in normal persons. They reported a patient with chronic granulomatous disease who had a 25-kb deletion extending to the 5-prime two-thirds of CYBB. The 3-prime breakpoint of the deletion was located in exon 7 of CYBB; the 5-prime breakpoint was in the LINE-1 element. There were no significant homologies between corresponding normal 5-prime and 3-prime regions flanking the breakpoint of the patient, so a nonhomologous recombination was considered the most likely mechanism for the 25-kb deletion. The analysis also showed that the patient had a novel 30-bp duplication in the 5-prime flanking region of the deletion point, which was transmitted by his mother with the deletion. The study suggested that the deletion occurred in his grandfather. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9790760" 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="#86" class="mim-tip-reference" title="Pollock, J. D., Williams, D. A., Gifford, M. A. C., Li, L. L., Du, X., Fisherman, J., Orkin, S. H., Doerschuk, C. M., Dinauer, M. C. <strong>Mouse model of X-linked chronic granulomatous disease, an inherited defect in phagocyte superoxide production.</strong> Nature Genet. 9: 202-209, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7719350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7719350</a>] [<a href="https://doi.org/10.1038/ng0295-202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7719350">Pollock et al. (1995)</a> created an animal model of X-linked CGD. They used gene targeting to generate mice with a null allele of the gene that encodes the 91-kD subunit of the oxidase cytochrome b. Affected hemizygous male mice lacked phagocyte superoxide production, manifested an increased susceptibility to infection with Staphylococcus aureus and Aspergillus fumigatus, and had an altered inflammatory response to thioglycollate peritonitis. They suggested that the animal model would be helpful in developing new treatments for CGD and in evaluating the role of phagocyte-derived oxidants in inflammation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7719350" 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="#28" 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. ROS 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 (<a href="/entry/603149">603149</a>), 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="#28" 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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<p>No abnormality of red cell Kell phenotype (see <a href="/entry/110900">110900</a>) was found in 15 Japanese cases of CGD (<a href="#53" class="mim-tip-reference" title="Ito, K., Mukumoto, Y., Konishi, H., Sakura, N., Usui, T. <strong>Kell phenotypes in 15 Japanese patients with chronic granulomatous disease.</strong> Vox Sang. 37: 39-40, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/494579/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">494579</a>] [<a href="https://doi.org/10.1111/j.1423-0410.1979.tb02266.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="494579">Ito et al., 1979</a>). It had been suggested that a defect of blood group precursor in the white cell membrane leads to deficient activation of NADH dehydrogenase in 1 form of CGD. It turned out that the cases of CGD with the McLeod phenotype, resulting from deletion of the Xk locus, represented a contiguous gene syndrome, as defined by <a href="#94" class="mim-tip-reference" title="Schmickel, R. D. <strong>Chromosomal deletions and enzyme deficiencies.</strong> J. Pediat. 108: 244-246, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3944710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3944710</a>] [<a href="https://doi.org/10.1016/s0022-3476(86)80991-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3944710">Schmickel (1986)</a>, due to deletion of the closely linked CYBB and Xk loci in Xp21. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=494579+3944710" 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="Densen, P., Wilkinson-Kroovand, S., Mandell, G. L., Sullivan, G., Oyen, R., Marsh, W. L. <strong>Kx: its relationship to chronic granulomatous disease and genetic linkage with Xg.</strong> Blood 58: 34-37, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7236890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7236890</a>]" pmid="7236890">Densen et al. (1981)</a> reported a highly informative family in which 4 of 8 brothers had CGD by clinical history and tests of neutrophil function. All 4 affected brothers had Kell (Kx)-negative neutrophils. The remaining 4 unaffected brothers were in good health and had normal NBT tests. However, 1 of the unaffected brothers had Kx-negative neutrophils that functioned normally. <a href="#29" class="mim-tip-reference" title="Densen, P., Wilkinson-Kroovand, S., Mandell, G. L., Sullivan, G., Oyen, R., Marsh, W. L. <strong>Kx: its relationship to chronic granulomatous disease and genetic linkage with Xg.</strong> Blood 58: 34-37, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7236890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7236890</a>]" pmid="7236890">Densen et al. (1981)</a> concluded that closely linked but distinct genes code for CGD and Kx. In addition, close linkage of the Xk and Xg loci was demonstrated; no recombinant was found in this sibship. Although it appears that the coexistence of CGD and the McLeod syndrome in some patients is due to the deletion of 2 very closely linked genes, Xk and CGD, <a href="#12" class="mim-tip-reference" title="Branch, D. R., Gaidulis, L., Lazar, G. S. <strong>Human granulocytes lack red cell Kx antigen.</strong> Brit. J. Haemat. 62: 747-755, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3516199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3516199</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1986.tb04098.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3516199">Branch et al. (1986)</a> showed that granulocytes lack red cell Kx antigen. The previous finding of Kx on white cells was presumably due to contamination of the testing serum by anti-WBC antibodies of non-Kx specificity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7236890+3516199" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#43" class="mim-tip-reference" title="Gallin, J. I. <strong>Personal Communication.</strong> Bethesda, Md. 5/1/1988."None>Gallin (1988)</a> observed an apparently autosomal dominant cytochrome-b-positive form of chronic granulomatous disease of childhood.</p>
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<a href="#Biggar1975" class="mim-tip-reference" title="Biggar, W. D. <strong>Phagocytosis in patients and carriers of chronic granulomatous disease.</strong> Lancet 305: 991-995, 1975. Note: Originally Volume I.">Biggar (1975)</a>; <a href="#Brzica1977" class="mim-tip-reference" title="Brzica, S. M., Jr., Rhodes, K. H., Pineda, A. A., Taswell, H. F. <strong>Chronic granulomatous disease and the McLeod phenotype: successful treatment of infection with granulocyte transfusions resulting in subsequent hemolytic transfusion reaction.</strong> Mayo Clin. Proc. 52: 153-156, 1977.">Brzica et al. (1977)</a>; <a href="#Curnutte1992" class="mim-tip-reference" title="Curnutte, J. T., Hopkins, P. J., Kuhl, W., Beutler, E. <strong>Studying X inactivation. (Letter)</strong> Lancet 339: 749 only, 1992.">Curnutte et al. (1992)</a>; <a href="#D'Amelio1984" class="mim-tip-reference" title="D'Amelio, R., Bellavite, P., Bianco, P., De Sole, P., Le Moli, S., Lippa, S., Seminara, R., Vercelli, B., Rossi, F., Rocchi, G., Aiuti, F. <strong>Chronic granulomatous disease in two sisters.</strong> J. Clin. Immun. 4: 220-227, 1984.">D'Amelio
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et al. (1984)</a>; <a href="#de1985" class="mim-tip-reference" title="de Martinville, B., Kunkel, L. M., Bruns, G., Morle, F., Koenig, M., Mandel, J. L., Horwich, A., Latt, S. A., Gusella, J. F., Housman, D., Francke, U. <strong>Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.</strong> Am. J. Hum. Genet. 37: 235-249, 1985.">de Martinville et al. (1985)</a>; <a href="#Dinauer1987" class="mim-tip-reference" title="Dinauer, M. C., Orkin, S. H., Brown, R., Jesaitis, A. J., Parkos, C. A. <strong>The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex.</strong> Nature 327: 717-720, 1987.">Dinauer et al. (1987)</a>; <a href="#Dinauer1988" class="mim-tip-reference" title="Dinauer, M. C., Orkin, S. H. <strong>Chronic granulomatous disease: molecular genetics.</strong> Hemat. Oncol. Clin. North Am. 2: 225-240, 1988.">Dinauer and Orkin (1988)</a>; <a href="#Edwards1969" class="mim-tip-reference" title="Edwards, J. H. <strong>Inheritance of chronic granulomatous disease. (Letter)</strong> Lancet 294: 850-851, 1969. Note: Originally Volume II.">Edwards (1969)</a>; <a href="#Fikrig1980" class="mim-tip-reference" title="Fikrig, S. M., Phillipp, J. C. D., Smithwick, E. M., Oyen, R., Marsh, W. L. <strong>Chronic granulomatous disease and McLeod syndrome in a black child.</strong> Pediatrics 66: 403-404, 1980.">Fikrig et al. (1980)</a>; <a href="#Gabig1984" class="mim-tip-reference" title="Gabig, T. G., Lefker, B. A. <strong>Deficient flavoprotein component of the NADPH-dependent superoxide-generating oxidase in the neutrophils from three male patients with chronic granulomatous disease.</strong> J. Clin. Invest. 73: 701-705, 1984.">Gabig
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and Lefker (1984)</a>; <a href="#Holmes1967" class="mim-tip-reference" title="Holmes, B., Page, A. R., Good, R. A. <strong>Studies of the metabolic activity of leukocytes from patients with a genetic abnormality of phagocytic function.</strong> J. Clin. Invest. 46: 1422-1432, 1967.">Holmes et al. (1967)</a>; <a href="#Horn1975" class="mim-tip-reference" title="Horn, D. C., Lehrer, R. I. <strong>NADPH oxidase deficiency in X-linked chronic granulomatous disease.</strong> J. Clin. Invest. 55: 707-713, 1975.">Horn and Lehrer (1975)</a>; <a href="#Johnston1975" class="mim-tip-reference" title="Johnston, R. B., Jr., Keele, B. B., Jr., Misra, H. P., Lehmeyer, J. E., Webb, L. S., Baehner, R. L., Rajagopalan, K. V. <strong>The role of superoxide anion generation in phagocytic bactericidal activity: studies with normal and chronic granulomatous disease leukocytes.</strong> J. Clin. Invest. 55: 1357-1372, 1975.">Johnston et al. (1975)</a>; <a href="#Johnston1982" class="mim-tip-reference" title="Johnston, R. B., Jr. <strong>Defects of neutrophil function. (Editorial)</strong> New Eng. J. Med. 307: 434-436, 1982.">Johnston (1982)</a>; <a href="#Klebanoff1978" class="mim-tip-reference" title="Klebanoff, S. J., Clark, R. A. <strong>The Neutrophil: Function and Clinical Disorders.</strong> Amsterdam: North Holland (pub.) 1978.">Klebanoff and Clark (1978)</a>; <a href="#Kontras1971" class="mim-tip-reference" title="Kontras, S. B., Bodenbender, J. G., McClave, C. R., Smith, J. P. <strong>Interstitial cystitis in chronic granulomatous disease.</strong> J. Urol. 105: 575-578, 1971.">Kontras et al. (1971)</a>; <a href="#Macher1982" class="mim-tip-reference" title="Macher, A. M., Casale, T. B., Fauci, A. S. <strong>Chronic granulomatous disease of childhood and Chromobacterium violaceum infections in the southeastern United States.</strong> Ann. Intern. Med. 97: 51-55, 1982.">Macher et al. (1982)</a>; <a href="#Marsh1975" class="mim-tip-reference" title="Marsh, W. L., Uretsky, S. C., Douglas, S. D. <strong>Antigens of the Kell blood group system on neutrophils and monocytes: their relation to chronic granulomatous disease.</strong> J. Pediat. 87: 1117-1120, 1975.">Marsh et al. (1975)</a>; <a href="#Marsh1975" class="mim-tip-reference" title="Marsh, W. L., Uretsky, S. C., Douglas, S. D. <strong>Antigens of the Kell blood group system on neutrophils and monocytes: their relation to chronic granulomatous disease.</strong> J. Pediat. 87: 1117-1120, 1975.">Marsh et al. (1975)</a>; <a href="#Mills1980" class="mim-tip-reference" title="Mills, E. L., Rholl, K. S., Quie, P. G. <strong>X-linked inheritance in females with chronic granulomatous disease.</strong> J. Clin. Invest. 66: 332-340, 1980.">Mills et al. (1980)</a>; <a href="#Nathan1969" class="mim-tip-reference" title="Nathan, D. G., Baehner, R. L., Weaver, D. K. <strong>Failure of nitro blue tetrazolium reduction in the phagocytic vacuoles of leukocytes in chronic granulomatous disease.</strong> J. Clin. Invest. 48: 1895-1904, 1969.">Nathan et al. (1969)</a>; <a href="#Newburger1979" class="mim-tip-reference" title="Newburger, P. E., Cohen, H. J., Rothchild, S. B., Hobbins, J. C., Malawista, S. E., Mahoney, M. J. <strong>Prenatal diagnosis of chronic granulomatous disease.</strong> New Eng. J. Med. 300: 178-181, 1979.">Newburger et al. (1979)</a>; <a href="#Orkin1987" class="mim-tip-reference" title="Orkin, S. H. <strong>X-linked chronic granulomatous disease: from chromosomal position to the in vivo gene product.</strong> Trends Genet. 3: 149-151, 1987.">Orkin (1987)</a>; <a href="#Orkin1989" class="mim-tip-reference" title="Orkin, S. H. <strong>Molecular genetics of chronic granulomatous disease.</strong> Annu. Rev. Immun. 7: 277-307, 1989.">Orkin (1989)</a>; <a href="#Schmalzer1976" class="mim-tip-reference" title="Schmalzer, E. A., Miller, D. R. <strong>Chronic granulomatous disease.</strong> Prog. Med. Genet. 1: 145-184, 1976.">Schmalzer and
|
|
Miller (1976)</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 (1988)</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 (1988)</a>; <a href="#Soothill1969" class="mim-tip-reference" title="Soothill, J. F. <strong>Inheritance of chronic granulomatous disease. (Letter)</strong> Lancet 294: 543-544, 1969. Note: Originally Volume II.">Soothill (1969)</a>; <a href="#Taswell1977" class="mim-tip-reference" title="Taswell, H. F., Lewis, J. C., Marsh, W. L., Wimer, B. M., Pineda, A. A., Brzica, S. M., Jr. <strong>Erythrocyte morphology in genetic defects of the Rh and Kell blood group systems.</strong> Mayo Clin. Proc. 52: 157-159, 1977.">Taswell
|
|
et al. (1977)</a>; <a href="#Thompson1969" class="mim-tip-reference" title="Thompson, E. N., Chandra, R. K., Cope, W. A., Soothill, J. F. <strong>Leukocyte abnormality in both parents of a patient with chronic granulomatous disease.</strong> Lancet 293: 799-801, 1969. Note: Originally Volume I.">Thompson et al. (1969)</a>; <a href="#Wolff1980" class="mim-tip-reference" title="Wolff, G., Muller, C. R., Jobke, A. <strong>Linkage of genes for chronic granulomatous disease and Xg.</strong> Hum. Genet. 54: 269-271, 1980.">Wolff et al. (1980)</a>
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<strong>REFERENCES</strong>
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|
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|
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|
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|
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|
|
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|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
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<a id="Ament1973" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ament, M. E., Ochs, H. D.
|
|
<strong>Gastrointestinal manifestations of chronic granulomatous disease.</strong>
|
|
New Eng. J. Med. 288: 382-387, 1973.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4684040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4684040</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4684040" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM197302222880802" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Ariga1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ariga, T., Furuta, H., Cho, K., Sakiyama, Y.
|
|
<strong>Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers.</strong>
|
|
Pediat. Res. 44: 85-92, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9667376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9667376</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9667376" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1203/00006450-199807000-00014" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Babior1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Babior, B. M.
|
|
<strong>Personal Communication.</strong>
|
|
Boston, Mass. 3/26/1974.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Baehner1968" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Baehner, R. L., Karnovsky, M. L.
|
|
<strong>Deficiency of reduced nicotinamide-adenine dinucleotide oxidase in chronic granulomatous disease.</strong>
|
|
Science 162: 1277-1279, 1968.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4387010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4387010</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4387010" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.162.3859.1277" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Baehner1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Baehner, R. L., Kunkel, L. M., Monaco, A. P., Haines, J. L., Conneally, P. M., Palmer, C., Heerema, N., Orkin, S. H.
|
|
<strong>DNA linkage analysis of X chromosome-linked chronic granulomatous disease.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 3398-3401, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3010296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3010296</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3010296" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.83.10.3398" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Baehner1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Baehner, R. L., Nathan, D. G.
|
|
<strong>Leukocyte oxidase: defective activity in chronic granulomatous disease.</strong>
|
|
Science 155: 835-836, 1967.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6018195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6018195</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6018195" 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.155.3764.835" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
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<a id="Berendes1957" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Berendes, H., Bridges, R. A., Good, R. A.
|
|
<strong>A fatal granulomatosus of childhood: the clinical study of a new syndrome.</strong>
|
|
Minn. Med. 40: 309-312, 1957.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13430573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13430573</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13430573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
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|
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|
|
|
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</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
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<a id="Biggar1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Biggar, W. D.
|
|
<strong>Phagocytosis in patients and carriers of chronic granulomatous disease.</strong>
|
|
Lancet 305: 991-995, 1975. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/48723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">48723</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=48723" 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(75)91943-1" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
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<a id="Bohler1986" class="mim-anchor"></a>
|
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<div class="">
|
|
<p class="mim-text-font">
|
|
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://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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[<a href="https://doi.org/10.1007/BF00918746" target="_blank">Full Text</a>]
|
|
|
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
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<a id="Bolscher1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bolscher, B. G. J. M., de Boer, M., de Klein, A., Weening, R. S., Roos, D.
|
|
<strong>Point mutations in the beta-subunit of cytochrome b(558) leading to X-linked chronic granulomatous disease.</strong>
|
|
Blood 77: 2482-2487, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1710153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1710153</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1710153" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
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<a id="Borregaard1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Borregaard, N., Cross, A. R., Herlin, T., Jones, O. T. G., Segal, A. W., Valerius, N. H.
|
|
<strong>A variant form of X-linked chronic granulomatous disease with normal nitroblue tetrazolium slide test and cytochrome b.</strong>
|
|
Europ. J. Clin. Invest. 13: 243-248, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6409648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6409648</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6409648" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1111/j.1365-2362.1983.tb00095.x" target="_blank">Full Text</a>]
|
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Branch1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Branch, D. R., Gaidulis, L., Lazar, G. S.
|
|
<strong>Human granulocytes lack red cell Kx antigen.</strong>
|
|
Brit. J. Haemat. 62: 747-755, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3516199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3516199</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3516199" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
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|
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[<a href="https://doi.org/10.1111/j.1365-2141.1986.tb04098.x" target="_blank">Full Text</a>]
|
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</p>
|
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</div>
|
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</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
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<a id="Brandrup1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Brandrup, F., Koch, C., Petri, M., Schiodt, M., Johansen, K. S.
|
|
<strong>Discoid lupus erythematosus-like lesions and stomatitis in female carriers of X-linked chronic granulomatous disease.</strong>
|
|
Brit. J. Derm. 104: 495-505, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7236510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7236510</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7236510" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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[<a href="https://doi.org/10.1111/j.1365-2133.1981.tb08163.x" target="_blank">Full Text</a>]
|
|
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</p>
|
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</div>
|
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</li>
|
|
|
|
<li>
|
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<a id="14" class="mim-anchor"></a>
|
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<a id="Bridges1959" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
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Bridges, R. A., Berendes, H., Good, R. A.
|
|
<strong>A fatal granulomatous disease of childhood: the clinical, pathological, and laboratory features of a new syndrome.</strong>
|
|
AMA J. Dis. Child 97: 387-408, 1959.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13636694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13636694</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13636694" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Brzica1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Brzica, S. M., Jr., Rhodes, K. H., Pineda, A. A., Taswell, H. F.
|
|
<strong>Chronic granulomatous disease and the McLeod phenotype: successful treatment of infection with granulocyte transfusions resulting in subsequent hemolytic transfusion reaction.</strong>
|
|
Mayo Clin. Proc. 52: 153-156, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/839862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">839862</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=839862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Buescher1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Buescher, E. S., Alling, D. W., Gallin, J. I.
|
|
<strong>Use of an X-linked human neutrophil marker to estimate timing of lyonization and size of the dividing stem cell pool.</strong>
|
|
J. Clin. Invest. 76: 1581-1584, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3863835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3863835</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3863835" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI112140" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Carson1965" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Carson, M. J., Chadwick, D. L., Brubaker, C. A., Cleland, R. S., Landing, B. H.
|
|
<strong>Thirteen boys with progressive septic granulomatosis.</strong>
|
|
Pediatrics 35: 405-412, 1965.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14258653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14258653</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14258653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Clark1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
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://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>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM198909073211005" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Condino-Neto2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Condino-Neto, A., Newburger, P. E.
|
|
<strong>Interferon-gamma improves splicing efficiency of CYBB gene transcripts in an interferon-responsive variant of chronic granulomatous disease due to a splice site consensus region mutation.</strong>
|
|
Blood 95: 3548-3554, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10828042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10828042</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10828042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Cross1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cross, A. R., Curnutte, J. T., Rae, J., Heyworth, P. G.
|
|
<strong>Hematologically important mutations: X-linked chronic granulomatous disease.</strong>
|
|
Blood Cells Mol. Dis. 22: 90-95, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8807090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8807090</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8807090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/bcmd.1996.0013" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Curnutte1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Curnutte, J. T., Hopkins, P. J., Kuhl, W., Beutler, E.
|
|
<strong>Studying X inactivation. (Letter)</strong>
|
|
Lancet 339: 749 only, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1347621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1347621</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1347621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0140-6736(92)90653-k" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Curnutte1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Curnutte, J. T., Kipnes, R. S., Babior, B. M.
|
|
<strong>Defect in pyridine nucleotide dependent superoxide production by a particulate fraction from the granulocytes of patients with chronic granulomatous disease.</strong>
|
|
New Eng. J. Med. 293: 628-632, 1975.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/239342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">239342</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=239342" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM197509252931303" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Curnutte1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Curnutte, J. T., Whitten, D. M., Babior, B. M.
|
|
<strong>Defective superoxide production by granulocytes from patients with chronic granulomatous disease.</strong>
|
|
New Eng. J. Med. 290: 593-597, 1974.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4359964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4359964</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4359964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM197403142901104" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Curnutte1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Curnutte, J. T.
|
|
<strong>Classification of chronic granulomatous disease.</strong>
|
|
Hemat. Oncol. Clin. North Am. 2: 241-252, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2839457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2839457</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2839457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="D'Amelio1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
D'Amelio, R., Bellavite, P., Bianco, P., De Sole, P., Le Moli, S., Lippa, S., Seminara, R., Vercelli, B., Rossi, F., Rocchi, G., Aiuti, F.
|
|
<strong>Chronic granulomatous disease in two sisters.</strong>
|
|
J. Clin. Immun. 4: 220-227, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6330157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6330157</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6330157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00914969" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="de Boer1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
de Boer, M., Bolscher, B. G. J. M., Sijmons, R. H., Scheffer, H., Weening, R. S., Roos, D.
|
|
<strong>Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction.</strong>
|
|
Prenatal Diag. 12: 773-777, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1438069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1438069</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1438069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/pd.1970120910" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="de Martinville1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
de Martinville, B., Kunkel, L. M., Bruns, G., Morle, F., Koenig, M., Mandel, J. L., Horwich, A., Latt, S. A., Gusella, J. F., Housman, D., Francke, U.
|
|
<strong>Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.</strong>
|
|
Am. J. Hum. Genet. 37: 235-249, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2984924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2984924</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2984924" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Deffert2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
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://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'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1371/journal.ppat.1004325" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Densen1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Densen, P., Wilkinson-Kroovand, S., Mandell, G. L., Sullivan, G., Oyen, R., Marsh, W. L.
|
|
<strong>Kx: its relationship to chronic granulomatous disease and genetic linkage with Xg.</strong>
|
|
Blood 58: 34-37, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7236890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7236890</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7236890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Dilworth1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dilworth, J. A., Mandell, G. L.
|
|
<strong>Adults with chronic granulomatous disease of 'childhood'.</strong>
|
|
Am. J. Med. 63: 233-243, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/407791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">407791</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=407791" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0002-9343(77)90237-6" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Dinauer1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dinauer, M. C., Curnutte, J. T., Rosen, H. R., Orkin, S. H.
|
|
<strong>A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.</strong>
|
|
J. Clin. Invest. 84: 2012-2016, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2556453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2556453</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2556453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI114393" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Dinauer2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dinauer, M. C., Nauseef, W. M., Newburger, P. E.
|
|
<strong>Inherited disorders of phagocyte killing. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. III. (8th ed.)</strong>
|
|
New York: McGraw-Hill (pub.) 2001. Pp. 4857-4887.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Dinauer1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dinauer, M. C., Orkin, S. H., Brown, R., Jesaitis, A. J., Parkos, C. A.
|
|
<strong>The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex.</strong>
|
|
Nature 327: 717-720, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3600768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3600768</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3600768" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/327717a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Dinauer1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dinauer, M. C., Orkin, S. H.
|
|
<strong>Chronic granulomatous disease: molecular genetics.</strong>
|
|
Hemat. Oncol. Clin. North Am. 2: 225-240, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3292508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3292508</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3292508" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Edwards1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Edwards, J. H.
|
|
<strong>Inheritance of chronic granulomatous disease. (Letter)</strong>
|
|
Lancet 294: 850-851, 1969. Note: Originally Volume II.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4186309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4186309</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4186309" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0140-6736(69)92306-x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Ezekowitz1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ezekowitz, R. A. B., Dinauer, M. C., Jaffe, H. S., Orkin, S. H., Newburger, P. E.
|
|
<strong>Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma.</strong>
|
|
New Eng. J. Med. 319: 146-151, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2838754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2838754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2838754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM198807213190305" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Ezekowitz2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ezekowitz, R. A. B.
|
|
<strong>What is the best way to treat inherited disorders? (Editorial)</strong>
|
|
New Eng. J. Med. 344: 926-927, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11259728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11259728</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11259728" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM200103223441210" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Fikrig1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fikrig, S. M., Phillipp, J. C. D., Smithwick, E. M., Oyen, R., Marsh, W. L.
|
|
<strong>Chronic granulomatous disease and McLeod syndrome in a black child.</strong>
|
|
Pediatrics 66: 403-404, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7191556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7191556</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7191556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Finlay1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Finlay, A. Y., Kingston, H. M., Holt, P. J. A.
|
|
<strong>Chronic granulomatous disease carrier geno-dermatosis (CGDCGD).</strong>
|
|
Clin. Genet. 23: 276-280, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6851217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6851217</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6851217" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1983.tb01876.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Francke1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Francke, U., Ochs, H. D., de Martinville, B., Giacalone, J., Lindgren, V., Disteche, C., Pagon, R. A., Hofker, M. H., van Ommen, G.-J. B., Pearson, P. L., Wedgwood, R. J.
|
|
<strong>Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.</strong>
|
|
Am. J. Hum. Genet. 37: 250-267, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4039107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4039107</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4039107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Gabig1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gabig, T. G., Lefker, B. A.
|
|
<strong>Deficient flavoprotein component of the NADPH-dependent superoxide-generating oxidase in the neutrophils from three male patients with chronic granulomatous disease.</strong>
|
|
J. Clin. Invest. 73: 701-705, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6707199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6707199</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6707199" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI111262" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Gallin2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gallin, J. I., Alling, D. W., Malech, H. L., Wesley, R., Koziol, D., Marciano, B., Eisenstein, E. M., Turner, M. L., DeCarlo, E. S., Starling, J. M., Holland, S. M.
|
|
<strong>Itraconazole to prevent fungal infections in chronic granulomatous disease.</strong>
|
|
New Eng. J. Med. 348: 2416-2422, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12802027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12802027</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12802027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJMoa021931" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Gallin1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gallin, J. I.
|
|
<strong>Personal Communication.</strong>
|
|
Bethesda, Md. 5/1/1988.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="Hamers1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
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://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'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/307553a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="45" class="mim-anchor"></a>
|
|
<a id="Heyworth1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., Cross, A. R.
|
|
<strong>Hematologically important mutations: X-linked chronic granulomatous disease--an update.</strong>
|
|
Blood Cells Molec. Dis. 23: 443-450, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9454688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9454688</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9454688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/bcmd.1997.0163" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="46" class="mim-anchor"></a>
|
|
<a id="Ho1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ho, C. M. L., Vowels, M. R., Lockwood, L., Ziegler, J. B.
|
|
<strong>Successful bone marrow transplantation in a child with X-linked chronic granulomatous disease.</strong>
|
|
Bone Marrow Transplant. 18: 213-215, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8832019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8832019</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8832019" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="Hohn1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hohn, D. C., Lehrer, R. I.
|
|
<strong>Identification of the defect in X-linked chronic granulomatous disease. (Abstract)</strong>
|
|
Clin. Res. 22: 394A only, 1974.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="48" class="mim-anchor"></a>
|
|
<a id="Holmes1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Holmes, B., Page, A. R., Good, R. A.
|
|
<strong>Studies of the metabolic activity of leukocytes from patients with a genetic abnormality of phagocytic function.</strong>
|
|
J. Clin. Invest. 46: 1422-1432, 1967.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6036538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6036538</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6036538" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI105634" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="49" class="mim-anchor"></a>
|
|
<a id="Horn1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Horn, D. C., Lehrer, R. I.
|
|
<strong>NADPH oxidase deficiency in X-linked chronic granulomatous disease.</strong>
|
|
J. Clin. Invest. 55: 707-713, 1975.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/235560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">235560</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=235560" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI107980" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="50" class="mim-anchor"></a>
|
|
<a id="Horwitz2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Horwitz, M. E., Barrett, A. J., Brown, M. R., Carter, C. S., Childs, R., Gallin, J. I., Holland, S. M., Linton, G. F., Miller, J. A., Leitman, S. F., Read, E. J., Malech, H. L.
|
|
<strong>Treatment of chronic granulomatous disease with nonmyeloablative conditioning and a T-cell-depleted hematopoietic allograft.</strong>
|
|
New Eng. J. Med. 344: 881-888, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11259721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11259721</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11259721" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM200103223441203" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="51" class="mim-anchor"></a>
|
|
<a id="Ishibashi2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ishibashi, F., Mizukami, T., Kanegasaki, S., Motoda, L., Kakinuma, R., Endo, F., Nunoi, H.
|
|
<strong>Improved superoxide-generating ability by interferon-gamma due to splicing pattern change of transcripts in neutrophils from patients with a splice site mutation in CYBB gene.</strong>
|
|
Blood 98: 436-441, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11435314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11435314</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11435314" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1182/blood.v98.2.436" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="52" class="mim-anchor"></a>
|
|
<a id="Ishibashi2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ishibashi, F., Nunoi, H., Endo, F., Matsuda, I., Kanegasaki, S.
|
|
<strong>Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.</strong>
|
|
Hum. Genet. 106: 473-481, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10914676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10914676</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10914676" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s004390000288" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="53" class="mim-anchor"></a>
|
|
<a id="Ito1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ito, K., Mukumoto, Y., Konishi, H., Sakura, N., Usui, T.
|
|
<strong>Kell phenotypes in 15 Japanese patients with chronic granulomatous disease.</strong>
|
|
Vox Sang. 37: 39-40, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/494579/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">494579</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=494579" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1423-0410.1979.tb02266.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="54" class="mim-anchor"></a>
|
|
<a id="Janeway1954" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Janeway, C. A., Craig, J., Davidson, M., Downey, W., Gitlin, D., Sullivan, J. C.
|
|
<strong>Hypergammaglobulinemia associated with severe recurrent and chronic nonspecific infection.</strong>
|
|
Am. J. Dis. Child 88: 388-392, 1954.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="55" class="mim-anchor"></a>
|
|
<a id="Johnston1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Johnston, R. B., Jr., Keele, B. B., Jr., Misra, H. P., Lehmeyer, J. E., Webb, L. S., Baehner, R. L., Rajagopalan, K. V.
|
|
<strong>The role of superoxide anion generation in phagocytic bactericidal activity: studies with normal and chronic granulomatous disease leukocytes.</strong>
|
|
J. Clin. Invest. 55: 1357-1372, 1975.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/166094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">166094</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=166094" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI108055" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="56" class="mim-anchor"></a>
|
|
<a id="Johnston1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Johnston, R. B., Jr.
|
|
<strong>Defects of neutrophil function. (Editorial)</strong>
|
|
New Eng. J. Med. 307: 434-436, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7088117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7088117</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7088117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM198208123070709" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="57" class="mim-anchor"></a>
|
|
<a id="Johnston2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Johnston, R. B., Jr.
|
|
<strong>Clinical aspects of chronic granulomatous disease.</strong>
|
|
Curr. Opin. Hemat. 8: 17-22, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11138621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11138621</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11138621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1097/00062752-200101000-00004" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="58" class="mim-anchor"></a>
|
|
<a id="Karnovsky1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
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://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6848940" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM198302033080510" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="59" class="mim-anchor"></a>
|
|
<a id="Klebanoff1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Klebanoff, S. J., Clark, R. A.
|
|
<strong>The Neutrophil: Function and Clinical Disorders.</strong>
|
|
Amsterdam: North Holland (pub.) 1978.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="60" class="mim-anchor"></a>
|
|
<a id="Kontras1971" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kontras, S. B., Bodenbender, J. G., McClave, C. R., Smith, J. P.
|
|
<strong>Interstitial cystitis in chronic granulomatous disease.</strong>
|
|
J. Urol. 105: 575-578, 1971.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5556710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5556710</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5556710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-5347(17)61580-5" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="61" class="mim-anchor"></a>
|
|
<a id="Kragballe1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kragballe, K., Borregaard, N., Brandrup, F., Koch, C., Johansen, K. S.
|
|
<strong>Relation of monocyte and neutrophil oxidative metabolism to skin and oral lesions in carriers of chronic granulomatous disease.</strong>
|
|
Clin. Exp. Immun. 43: 390-398, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7273485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7273485</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7273485" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="62" class="mim-anchor"></a>
|
|
<a id="Kumatori1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kumatori, A., Faizunnessa, N. N., Suzuki, S., Moriuchi, T., Kurozumi, H., Nakamura, M.
|
|
<strong>Nonhomologous recombination between the cytochrome b-558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease.</strong>
|
|
Genomics 53: 123-128, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9790760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9790760</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9790760" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/geno.1998.5510" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="63" class="mim-anchor"></a>
|
|
<a id="Kunkel1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kunkel, L. M., Monaco, A. P., Middlesworth, W., Ochs, H. D., Latt, S. A.
|
|
<strong>Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.</strong>
|
|
Proc. Nat. Acad. Sci. 82: 4778-4782, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2991893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2991893</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2991893" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.82.14.4778" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="64" class="mim-anchor"></a>
|
|
<a id="Lagakos2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lagakos, S. W.
|
|
<strong>Clinical trials and rare diseases. (Editorial)</strong>
|
|
New Eng. J. Med. 348: 2455-2456, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12802033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12802033</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12802033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJMe030024" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="65" class="mim-anchor"></a>
|
|
<a id="Landing1957" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Landing, B. H., Shirkey, H. S.
|
|
<strong>A syndrome of recurrent infection and infiltration of viscera by pigmented lipid histiocytes.</strong>
|
|
Pediatrics 20: 431-447, 1957.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13465232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13465232</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13465232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="66" class="mim-anchor"></a>
|
|
<a id="Lew1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lew, P. D., Southwick, F. S., Stossel, T. P., Whitin, J. C., Simons, E., Cohen, H. J.
|
|
<strong>A variant of chronic granulomatous disease: deficient oxidative metabolism due to a low-affinity NADPH oxidase.</strong>
|
|
New Eng. J. Med. 305: 1329-1333, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6270561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6270561</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6270561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM198111263052207" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="67" class="mim-anchor"></a>
|
|
<a id="Liese2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
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://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11060536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1067/mpd.2000.109112" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="68" class="mim-anchor"></a>
|
|
<a id="Lischner1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lischner, H. W., Martyn, L. J.
|
|
<strong>Chorioretinal lesions, sea-blue histiocytes and other manifestations in familial chronic granulomatous disease.</strong>
|
|
Birth Defects Orig. Art. Ser. XI(1): 73-76, 1975.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="69" class="mim-anchor"></a>
|
|
<a id="MacFarlane1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
MacFarlane, P. S., Speirs, A. L., Sommerville, R. G.
|
|
<strong>Fatal granulomatous disease of childhood and benign lymphocytic infiltration of the skin (congenital dysphagocytosis).</strong>
|
|
Lancet 289: 408-410, 1967. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4163887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4163887</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4163887" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0140-6736(67)91174-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="70" class="mim-anchor"></a>
|
|
<a id="Macher1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Macher, A. M., Casale, T. B., Fauci, A. S.
|
|
<strong>Chronic granulomatous disease of childhood and Chromobacterium violaceum infections in the southeastern United States.</strong>
|
|
Ann. Intern. Med. 97: 51-55, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7092006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7092006</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7092006" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.7326/0003-4819-97-1-51" target="_blank">Full Text</a>]
|
|
|
|
|
|
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|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="71" class="mim-anchor"></a>
|
|
<a id="Marsh1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Marsh, W. L., Oyen, R., Nichols, M. E., Allen, F. H., Jr.
|
|
<strong>Chronic granulomatous disease and Kell blood groups.</strong>
|
|
Brit. J. Haemat. 29: 247-262, 1975.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1191546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1191546</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1191546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1365-2141.1975.tb01819.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="72" class="mim-anchor"></a>
|
|
<a id="Marsh1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Marsh, W. L., Uretsky, S. C., Douglas, S. D.
|
|
<strong>Antigens of the Kell blood group system on neutrophils and monocytes: their relation to chronic granulomatous disease.</strong>
|
|
J. Pediat. 87: 1117-1120, 1975.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/52702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">52702</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=52702" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(75)80124-7" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="73" class="mim-anchor"></a>
|
|
<a id="Matthay1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Matthay, K. K., Golbus, M. S., Wara, D. W., Mentzer, W. C.
|
|
<strong>Prenatal diagnosis of chronic granulomatous disease.</strong>
|
|
Am. J. Med. Genet. 17: 731-739, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6720741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6720741</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6720741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320170404" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="74" class="mim-anchor"></a>
|
|
<a id="McPhail1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McPhail, L. C., DeChatelet, L. R., Shirley, P. S., Wilfert, C., Johnston, R. B., Jr., McCall, C. E.
|
|
<strong>Deficiency of NADPH oxidase activity in chronic granulomatous disease.</strong>
|
|
J. Pediat. 90: 213-217, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(77)80632-x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="75" class="mim-anchor"></a>
|
|
<a id="Mills1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mills, E. L., Rholl, K. S., Quie, P. G.
|
|
<strong>X-linked inheritance in females with chronic granulomatous disease.</strong>
|
|
J. Clin. Invest. 66: 332-340, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7400319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7400319</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7400319" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI109861" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="76" class="mim-anchor"></a>
|
|
<a id="Nathan1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nathan, D. G., Baehner, R. L., Weaver, D. K.
|
|
<strong>Failure of nitro blue tetrazolium reduction in the phagocytic vacuoles of leukocytes in chronic granulomatous disease.</strong>
|
|
J. Clin. Invest. 48: 1895-1904, 1969.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5387730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5387730</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5387730" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI106156" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="77" class="mim-anchor"></a>
|
|
<a id="Nelson1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nelson, C. E., Dahl, M. V., Goltz, R. W.
|
|
<strong>Arcuate dermal erythema in a carrier of chronic granulomatous disease.</strong>
|
|
Arch. Derm. 113: 798-800, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/869551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">869551</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=869551" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="78" class="mim-anchor"></a>
|
|
<a id="Newburger1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Newburger, P. E., Cohen, H. J., Rothchild, S. B., Hobbins, J. C., Malawista, S. E., Mahoney, M. J.
|
|
<strong>Prenatal diagnosis of chronic granulomatous disease.</strong>
|
|
New Eng. J. Med. 300: 178-181, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/83536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">83536</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=83536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM197901253000406" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="79" class="mim-anchor"></a>
|
|
<a id="Okamura1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Okamura, N., Malawista, S. E., Roberts, R. L., Rosen, H., Ochs, H. D., Babior, B. M., Curnutte, J. T.
|
|
<strong>Phosphorylation of the oxidase-related 48K phosphoprotein family in the unusual cytochrome-negative and X-linked cytochrome-positive types of chronic granulomatous disease.</strong>
|
|
Blood 72: 811-816, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3401601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3401601</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3401601" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="80" class="mim-anchor"></a>
|
|
<a id="Orkin1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Orkin, S. H.
|
|
<strong>X-linked chronic granulomatous disease: from chromosomal position to the in vivo gene product.</strong>
|
|
Trends Genet. 3: 149-151, 1987.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="81" class="mim-anchor"></a>
|
|
<a id="Orkin1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Orkin, S. H.
|
|
<strong>Molecular genetics of chronic granulomatous disease.</strong>
|
|
Annu. Rev. Immun. 7: 277-307, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2523713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2523713</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2523713" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1146/annurev.iy.07.040189.001425" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="82" class="mim-anchor"></a>
|
|
<a id="Orkin2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Orkin, S. H.
|
|
<strong>Stem cell alchemy.</strong>
|
|
Nature Med. 6: 1212-1213, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062526</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11062526" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/81303" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="83" class="mim-anchor"></a>
|
|
<a id="Ott2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ott, M. G., Schmidt, M., Schwarzwaelder, K., Stein, S., Siler, U., Koehl, U., Glimm, H., Kuhlcke, K., Schilz, A., Kunkel, H., Naundorf, S., Brinkmann, A., and 15 others.
|
|
<strong>Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16, or SETBP1.</strong>
|
|
Nature Med. 12: 401-409, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16582916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16582916</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16582916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nm1393" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="84" class="mim-anchor"></a>
|
|
<a id="Parkos1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Parkos, C. A., Dinauer, M. C., Jesaitis, A. J., Orkin, S. H., Curnutte, J. T.
|
|
<strong>Absence of both the 91kD and 22kD subunits of human neutrophil cytochrome b in two genetic forms of chronic granulomatous disease.</strong>
|
|
Blood 73: 1416-1420, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2713485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2713485</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2713485" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="85" class="mim-anchor"></a>
|
|
<a id="Patino1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Patino, P. J., Perez, J. E., Lopez, J. A., Condino-Neto, A., Grumach, A. S., Botero, J. H., Curnutte, J. T., Garcia de Olarte, D.
|
|
<strong>Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox.</strong>
|
|
Hum. Mutat. 13: 29-37, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9888386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9888386</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9888386" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:1<29::AID-HUMU3>3.0.CO;2-X" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="86" class="mim-anchor"></a>
|
|
<a id="Pollock1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pollock, J. D., Williams, D. A., Gifford, M. A. C., Li, L. L., Du, X., Fisherman, J., Orkin, S. H., Doerschuk, C. M., Dinauer, M. C.
|
|
<strong>Mouse model of X-linked chronic granulomatous disease, an inherited defect in phagocyte superoxide production.</strong>
|
|
Nature Genet. 9: 202-209, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7719350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7719350</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7719350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng0295-202" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="87" class="mim-anchor"></a>
|
|
<a id="Porter1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Porter, C. D., Parkar, M. H., Levinsky, R. J., Collins, M. K. L., Kinnon, C.
|
|
<strong>X-linked chronic granulomatous disease: correction of NADPH oxidase defect by retrovirus-mediated expression of gp91-phox.</strong>
|
|
Blood 82: 2196-2202, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8400270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8400270</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8400270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="88" class="mim-anchor"></a>
|
|
<a id="Quie1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Quie, P. G., White, J. G., Holmes, B., Good, R. A.
|
|
<strong>In vitro bactericidal capacity of human polymorphonuclear leukocytes: diminished activity in chronic granulomatous disease of childhood.</strong>
|
|
J. Clin. Invest. 46: 668-679, 1967.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6021213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6021213</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6021213" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI105568" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="89" class="mim-anchor"></a>
|
|
<a id="Rae1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., Hopkins, P. J., Kuruto, R., Curnutte, J. T.
|
|
<strong>X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.</strong>
|
|
Am. J. Hum. Genet. 62: 1320-1331, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585602</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/301874" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="90" class="mim-anchor"></a>
|
|
<a id="Roos2021" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Roos, D., van Leeuwen, K., Hsu, A. P., Priel, D. L., Begtrup, A., Brandon, R., Rawat, A., Vignesh, P., Madkaikar, M., Stasia, M. J., Bakri, F. G., de Boer, M., and 24 others.
|
|
<strong>Hematologically important mutations: the autosomal forms of chronic granulomatous disease (third update).</strong>
|
|
Blood Cells Molec. Dis. 92: 102596, 2021.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34547651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34547651</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34547651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.bcmd.2021.102596" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="91" class="mim-anchor"></a>
|
|
<a id="Roos1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Roos, D.
|
|
<strong>The genetic basis of chronic granulomatous disease.</strong>
|
|
Immun. Rev. 138: 121-157, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8070813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8070813</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8070813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1600-065x.1994.tb00850.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="92" class="mim-anchor"></a>
|
|
<a id="Schaller1972" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schaller, J.
|
|
<strong>Illness resembling lupus erythematosus in mothers of boys with chronic granulomatous disease.</strong>
|
|
Ann. Intern. Med. 76: 747-750, 1972.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5025325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5025325</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5025325" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.7326/0003-4819-76-5-747" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="93" class="mim-anchor"></a>
|
|
<a id="Schmalzer1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schmalzer, E. A., Miller, D. R.
|
|
<strong>Chronic granulomatous disease.</strong>
|
|
Prog. Med. Genet. 1: 145-184, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/935507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">935507</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=935507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="94" class="mim-anchor"></a>
|
|
<a id="Schmickel1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schmickel, R. D.
|
|
<strong>Chromosomal deletions and enzyme deficiencies.</strong>
|
|
J. Pediat. 108: 244-246, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3944710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3944710</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3944710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(86)80991-x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="95" class="mim-anchor"></a>
|
|
<a id="Segal1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
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://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>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM198302033080503" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="96" class="mim-anchor"></a>
|
|
<a id="Segal1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Segal, A. W., Peters, T. J.
|
|
<strong>Characterisation of the enzyme defect in chronic granulomatous disease.</strong>
|
|
Lancet 307: 1363-1365, 1976. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/59010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">59010</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=59010" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0140-6736(76)93021-x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="97" class="mim-anchor"></a>
|
|
<a id="Segal1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Segal, A. W., Webster, D., Jones, O. T. G., Allison, A. C.
|
|
<strong>Absence of a newly described cytochrome b from neutrophils of patients with chronic granulomatous disease.</strong>
|
|
Lancet 312: 446-449, 1978. Note: Originally Volume II.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/79807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">79807</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=79807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0140-6736(78)91445-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="98" class="mim-anchor"></a>
|
|
<a id="Segal1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
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://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>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0140-6736(85)91796-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="99" class="mim-anchor"></a>
|
|
<a id="Segal1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Segal, A. W.
|
|
<strong>Absence of both cytochrome b-245 subunits from neutrophils in X-linked chronic granulomatous disease.</strong>
|
|
Nature 326: 88-91, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3821877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3821877</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3821877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/326088a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="100" class="mim-anchor"></a>
|
|
<a id="Segal1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Segal, A. W.
|
|
<strong>Cytochrome b(-245) and its involvement in the molecular pathology of chronic granulomatous disease.</strong>
|
|
Hemat. Oncol. Clin. North Am. 2: 213-223, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3292507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3292507</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3292507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="101" class="mim-anchor"></a>
|
|
<a id="Segal1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Segal, A. W.
|
|
<strong>The molecular and cellular pathology of chronic granulomatous disease.</strong>
|
|
Europ. J. Clin. Invest. 18: 433-443, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2852593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2852593</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2852593" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1365-2362.1988.tb01037.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="102" class="mim-anchor"></a>
|
|
<a id="Song2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Song, S.-M., Park, M.-R., Kim, D.-S., Kim, J., Kim, Y.-J., Ki, C.-S., Ahn, K.
|
|
<strong>Identification of a novel mutation in the CYBB gene, p.Asp378Gly, in a patient with X-linked chronic granulomatous disease.</strong>
|
|
Allergy Asthma Immun. Res. 6: 366-369, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24991462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24991462</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24991462[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24991462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.4168/aair.2014.6.4.366" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="103" class="mim-anchor"></a>
|
|
<a id="Soothill1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Soothill, J. F.
|
|
<strong>Inheritance of chronic granulomatous disease. (Letter)</strong>
|
|
Lancet 294: 543-544, 1969. Note: Originally Volume II.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4184856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4184856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4184856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0140-6736(69)90239-6" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="104" class="mim-anchor"></a>
|
|
<a id="Southwick1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Southwick, F. S., van der Meer, J. W. M.
|
|
<strong>Recurrent cystitis and bladder mass in two adults with chronic granulomatous disease.</strong>
|
|
Ann. Intern. Med. 109: 118-121, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3289429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3289429</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3289429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.7326/0003-4819-109-2-118" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="105" class="mim-anchor"></a>
|
|
<a id="Taswell1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Taswell, H. F., Lewis, J. C., Marsh, W. L., Wimer, B. M., Pineda, A. A., Brzica, S. M., Jr.
|
|
<strong>Erythrocyte morphology in genetic defects of the Rh and Kell blood group systems.</strong>
|
|
Mayo Clin. Proc. 52: 157-159, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/402512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">402512</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=402512" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="106" class="mim-anchor"></a>
|
|
<a id="Tauber1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tauber, A. I., Borregaard, N., Simons, E., Wright, J.
|
|
<strong>Chronic granulomatous disease: a syndrome of phagocyte oxidase deficiencies.</strong>
|
|
Medicine 62: 286-309, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6353131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6353131</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6353131" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="107" class="mim-anchor"></a>
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<a id="Tauber1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Tauber, A. I.
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|
<strong>Current views of neutrophil dysfunction: an integrated clinical perspective.</strong>
|
|
Am. J. Med. 70: 1237-1246, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7015856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7015856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7015856" 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/10.1016/0002-9343(81)90833-0" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="108" class="mim-anchor"></a>
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<a id="Thompson1969" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Thompson, E. N., Chandra, R. K., Cope, W. A., Soothill, J. F.
|
|
<strong>Leukocyte abnormality in both parents of a patient with chronic granulomatous disease.</strong>
|
|
Lancet 293: 799-801, 1969. Note: Originally Volume I.
|
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4180360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4180360</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4180360" 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(69)92065-0" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="109" class="mim-anchor"></a>
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<a id="Thompson1970" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Thompson, E. N., Soothill, J. F.
|
|
<strong>Chronic granulomatous disease: quantitative clinicopathological relationships.</strong>
|
|
Arch. Dis. Child. 45: 24-32, 1970.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4191616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4191616</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4191616" 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/10.1136/adc.45.239.24" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="110" class="mim-anchor"></a>
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<a id="Windhorst1967" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Windhorst, D. B., Holmes, B., Good, R. A.
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|
<strong>A newly defined X-linked trait in man with demonstration of the Lyon effect in carrier females.</strong>
|
|
Lancet 289: 737-739, 1967. Note: Originally Volume I.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4164116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4164116</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4164116" 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(67)91360-8" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="111" class="mim-anchor"></a>
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<a id="Windhorst1969" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Windhorst, D. B.
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|
<strong>Inheritance of chronic granulomatous disease. (Letter)</strong>
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Lancet 294: 543-544, 1969. Note: Originally Volume II.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4184856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4184856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4184856" 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(69)90239-6" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="112" class="mim-anchor"></a>
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<a id="Wolff1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wolff, G., Muller, C. R., Jobke, A.
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<strong>Linkage of genes for chronic granulomatous disease and Xg.</strong>
|
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Hum. Genet. 54: 269-271, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7390496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7390496</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7390496" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00278983" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="113" class="mim-anchor"></a>
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<a id="Zurro2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zurro, N. B., Tavares de Albuquerque, J. A., Franca, T. T., Vendramini, P., Arslanian, C., Tavares-Scancetti, F., Condino-Neto, A.
|
|
<strong>A novel mutation in CYBB gene in a patient with chronic colitis and recurrent pneumonia due to X-linked chronic granulomatous disease.</strong>
|
|
Pediat. Blood Cancer 65: e27382, 2018. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30094936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30094936</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30094936" 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/pbc.27382" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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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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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/15/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 07/23/2020<br>Cassandra L. Kniffin - updated : 07/02/2020<br>Paul J. Converse - updated : 10/3/2014<br>Cassandra L. Kniffin - updated : 5/15/2006<br>Victor A. McKusick - updated : 1/7/2005<br>Cassandra L. Kniffin - reorganized : 3/12/2004<br>Cassandra L. Kniffin - updated : 3/11/2004<br>Victor A. McKusick - updated : 4/7/2003<br>Victor A. McKusick - updated : 2/12/2003<br>Victor A. McKusick - updated : 8/27/2002<br>Victor A. McKusick - updated : 10/9/2001<br>Deborah L. Stone - updated : 9/11/2001<br>Victor A. McKusick - updated : 9/5/2001<br>Victor A. McKusick - updated : 4/6/2001<br>Victor A. McKusick - updated : 11/2/2000<br>Victor A. McKusick - updated : 6/12/2000<br>Victor A. McKusick - updated : 3/24/1999<br>Ada Hamosh - updated : 3/9/1999<br>Victor A. McKusick - updated : 1/12/1999<br>Victor A. McKusick - updated : 11/30/1998<br>Victor A. McKusick - updated : 6/23/1998<br>Victor A. McKusick - updated : 3/30/1998<br>Iosif W. Lurie - updated : 1/8/1997<br>Stylianos E. Antonarakis - updated : 7/8/1996
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/22/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/22/2021<br>carol : 10/21/2021<br>ckniffin : 10/15/2021<br>carol : 07/29/2020<br>carol : 07/28/2020<br>ckniffin : 07/23/2020<br>carol : 07/20/2020<br>carol : 07/17/2020<br>carol : 07/07/2020<br>carol : 07/06/2020<br>ckniffin : 07/02/2020<br>carol : 08/01/2019<br>carol : 07/09/2016<br>carol : 5/27/2016<br>mgross : 10/3/2014<br>mgross : 12/16/2011<br>wwang : 5/24/2011<br>terry : 5/19/2011<br>ckniffin : 5/12/2011<br>alopez : 5/2/2011<br>alopez : 4/18/2011<br>carol : 6/29/2010<br>ckniffin : 9/22/2009<br>wwang : 9/9/2009<br>alopez : 7/14/2009<br>terry : 3/27/2009<br>wwang : 5/24/2006<br>ckniffin : 5/15/2006<br>terry : 3/22/2006<br>alopez : 1/7/2005<br>carol : 10/28/2004<br>alopez : 9/9/2004<br>carol : 3/15/2004<br>ckniffin : 3/15/2004<br>carol : 3/12/2004<br>terry : 3/12/2004<br>ckniffin : 3/11/2004<br>tkritzer : 2/3/2004<br>mgross : 1/30/2004<br>mgross : 1/30/2004<br>tkritzer : 4/7/2003<br>carol : 2/27/2003<br>tkritzer : 2/24/2003<br>terry : 2/12/2003<br>tkritzer : 9/6/2002<br>tkritzer : 9/5/2002<br>tkritzer : 8/30/2002<br>terry : 8/27/2002<br>mgross : 7/12/2002<br>carol : 3/13/2002<br>carol : 11/6/2001<br>mcapotos : 10/19/2001<br>mcapotos : 10/19/2001<br>terry : 10/9/2001<br>carol : 9/11/2001<br>carol : 9/10/2001<br>terry : 9/5/2001<br>mcapotos : 4/16/2001<br>mcapotos : 4/9/2001<br>terry : 4/6/2001<br>terry : 4/6/2001<br>alopez : 3/20/2001<br>mcapotos : 11/16/2000<br>mcapotos : 11/14/2000<br>terry : 11/2/2000<br>carol : 9/13/2000<br>mcapotos : 7/20/2000<br>mcapotos : 6/27/2000<br>terry : 6/12/2000<br>mgross : 4/2/1999<br>terry : 3/24/1999<br>alopez : 3/12/1999<br>alopez : 3/9/1999<br>carol : 1/15/1999<br>carol : 1/14/1999<br>terry : 1/12/1999<br>dkim : 12/15/1998<br>carol : 12/2/1998<br>terry : 11/30/1998<br>carol : 6/25/1998<br>terry : 6/23/1998<br>terry : 6/4/1998<br>alopez : 3/30/1998<br>terry : 3/25/1998<br>terry : 3/25/1998<br>terry : 3/13/1997<br>terry : 3/6/1997<br>jenny : 3/4/1997<br>jenny : 1/21/1997<br>jenny : 1/8/1997<br>mark : 1/3/1997<br>terry : 11/6/1996<br>mark : 7/8/1996<br>carol : 2/13/1995<br>terry : 7/18/1994<br>jason : 6/28/1994<br>mimadm : 5/18/1994<br>warfield : 4/20/1994<br>pfoster : 3/30/1994
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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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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 306400
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGDX
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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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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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CGD<br />
|
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CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED<br />
|
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CHRONIC GRANULOMATOUS DISEASE, X-LINKED
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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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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
|
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CYTOCHROME b-POSITIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, INCLUDED
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT, INCLUDED<br />
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CHRONIC GRANULOMATOUS DISEASE, ATYPICAL, INCLUDED
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</span>
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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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<div>
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<p>
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 379;
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<strong>DO:</strong> 0070195;
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</span>
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</p>
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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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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed 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>
|
|
Phenotype <br /> MIM number
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</th>
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<th>
|
|
Inheritance
|
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</th>
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
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<th>
|
|
Gene/Locus
|
|
</th>
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<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
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Xp21.1-p11.4
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Chronic granulomatous disease, X-linked
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<span class="mim-font">
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306400
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<span class="mim-font">
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X-linked recessive
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<span class="mim-font">
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3
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CYBB
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<span class="mim-font">
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300481
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<span class="mim-font">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that X-linked chronic granulomatous disease (CGDX) is caused by hemizygous or heterozygous mutation in the gene encoding p91-phox (CYBB; 300481) on chromosome Xp21.</p>
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<strong>Description</strong>
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<p>X-linked chronic granulomatous disease (CGDX) is a primary immunodeficiency characterized by onset of symptoms in the first months or years of life. Patients present with recurrent infections, lymphadenopathy, inflammatory bowel disease, granulomatous colitis, fever, skin infections, osteomyelitis, and/or abscesses. Infectious organisms usually include Staphylococcus aureus, Burkholderia cepacia, Serrata, Salmonella, mycobacteria, and fungi. The disorder results from impaired function of the phagocytic NADPH oxidase complex, which generates the microbiocidal respiratory burst. Laboratory studies using the DHR assay show impaired phagocytic production of reactive oxygen species in response to PMA stimulation (reviews by Dinauer et al., 2001 and Johnston, 2001; summary by Song et al., 2014). </p><p><strong><em>Genetic Heterogeneity of Chronic Granulomatous Disease</em></strong></p><p>
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Chronic granulomatous disease can be caused by mutation in several genes encoding structural or regulatory subunits of the phagocyte NADPH oxidase complex. See also CGD1 (233700), caused by mutation in the NCF1 gene (608512) on chromosome 7q11; CGD2 (233710), caused by mutation in the NCF2 gene (608515) on chromosome 1q25; CGD3 (613960), caused by mutation in the NCF4 gene (601488) on chromosome 22q13; CGD4 (233690), caused by mutation in the CYBA gene (608508) on chromosome 16q24; and CGD5 (618935) caused by mutation in the CYBC1 gene (618334) on chromosome 17q25.</p><p>A similar syndrome, termed neutrophil immunodeficiency syndrome (608203), is caused by mutation in another protein involved in the NADPH oxidase complex, RAC2 (602049).</p><p>Roos et al. (2021) provided a review of autosomal forms of chronic granulomatous disease. </p>
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<strong>Clinical Features</strong>
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<p>Dinauer et al. (2001) suggested that Janeway et al. (1954) first noted CGD in a patient with hypergammaglobulinemia associated with severe recurrent and chronic nonspecific infections, but did not distinguish the disorder as a distinct entity. Berendes et al. (1957) and Bridges et al. (1959) identified a new syndrome which they termed 'fatal granulomatosis of childhood.' Four boys had suppurative lymphadenitis, hepatosplenomegaly, pulmonary infiltrates, and eczematoid dermatitis, with findings of granulomas in biopsy and autopsy specimens. Landing and Shirkey (1957) described 2 boys with recurrent infection who had infiltration of visceral organs by pigmented lipid histiocytes. Carson et al. (1965) reported 16 males in 8 families with a syndrome of chronic suppurative lymphadenitis, chronic dermatitis, chronic pulmonary disease and hepatosplenomegaly with subsequent fatal outcome. Hypergammaglobulinemia was often present. Quie et al. (1967) observed a form of fatal granulomatous disease in males in an X-linked pedigree pattern. The leukocytes were able to phagocytize staphylococci normally, but were defective in their ability to digest the organism. </p><p>In a series of 6 males with CGD, aged 2 to 22 years, Lischner and Martyn (1975) described chorioretinal lesions, sea-blue histiocytes, and changes misconstrued as indicative of eosinophilic granuloma. Dilworth and Mandell (1977) reported 4 adult male sibs, aged 28, 30, 32, and 40, who had the onset at age 6 years of serious bacterial infections involving the lungs and lymph nodes followed by a marked decrease in the frequency of infections in their mid-twenties. Sequelae included pulmonary fibrosis, ill-defined polyarthritis and glomerulonephritis. Despite normal morphology and the ability to ingest microbes, postphagocytic polymorphonuclear leukocytes failed to reduce nitroblue tetrazolium (NBT), consume oxygen and produce hydrogen peroxide, and stimulate the hexose monophosphate shunt. G6PD (305900) levels were normal. An intermediate quantitative NBT in the mother of the brothers and in a daughter of each of 2 of them supported X-linked recessive inheritance. </p><p>Bohler et al. (1986) studied 25 patients with CGD. In 18 of 22 clinically typical cases, the complete inability of superoxide generation by granulocytes was associated with the absence of detectable cytochrome b. Mothers, but not fathers, of such male patients showed diminished content of cytochrome b, confirming that the affected gene is localized on the X chromosome. Flavoprotein deficiency found in the granulocytes of 4 male patients was always associated with absence of detectable cytochrome b. Three further patients had a mild form of X-linked CGD; the oxidative activity of their phagocytes and the cytochrome b were diminished but not absent. Southwick and van der Meer (1988) described recurrent episodes of severe cystitis in 2 unrelated men, aged 23 and 20 years, with X-linked CGD. Ultrasonography showed large, discrete bladder masses that mimicked bladder carcinoma in both patients. Prolonged antibiotic therapy was necessary for clearing of the inflammatory bladder masses. </p><p>Johnston (2001) reviewed the clinical aspects of CGD. The disorder presents most often with pneumonia, infectious dermatitis, osteomyelitis, and recurrent or severe abscess formation beneath the skin and in the organs of the mononuclear phagocyte system. Tissue examination typically shows microscopic granulomas. The estimated incidence of CGD in the U.S. is 1/200,000 births per year. Of 368 patients with CGD, approximately 76% had the X-linked recessive form, 18% had disease due to p47-phox (NCF1; 608512) deficiency, 4% due to p67-phox (233710) deficiency, and 3% due to p22-phox (608508) deficiency. Johnston (2001) found that the organisms infecting CGD patients in the 1990's changed markedly from those reported from 1957 to 1976. Initially, Staphylococcus, Klebsiella, and E. coli were the most common organisms, whereas Aspergillus nidulans, Candida, Burkholderia cepacia (formerly Pseudomonas cepacia), and Serratia marcescens had become more prominent since then. Secondary complications in patients with CGD include enteritis/colitis, obstruction of the urinary tract, discoid lupus, and chorioretinitis. </p><p>Song et al. (2014) reported a 3-year-old boy who presented with recurrent persistent pneumonia beginning around 12 months of age. He had fever, oral ulcers, elevated C-reactive protein, abnormal liver enzymes, hepatomegaly, and lymphadenopathy. Cultures identified respiratory syncytial virus (RSV) in nasal swabs and Candida parapsilosis in blood. Liver biopsy showed granuloma formation, and there was evidence of osteomyelitis. Laboratory studies of patient neutrophils showed near absence of reactive oxygen species production upon PMA stimulation, consistent with CGD. The boy received hematopoietic stem cell transplant, which resulted in clinical improvement. Genetic analysis identified a hemizygous missense mutation (D378G) in the CYBB gene that was inherited from his unaffected mother. Functional studies of the variant were not performed. </p><p>Zurro et al. (2018) reported a 20-year-old Brazilian man with CGDX. From 1.5 years of age, he had recurrent pneumonia, chronic colitis, and lymphadenopathy. Lung biopsy at age 3 showed granulomatous lesions. He later developed abdominal pain associated with esophageal stenosis and was diagnosed with inflammatory bowel disease. At age 17 years, he developed severe pneumonia. Laboratory studies of patient neutrophils showed an impaired respiratory burst after PMA stimulation compared to controls, diagnostic of CGD. The patient underwent stem cell transplantation with a good outcome. Genetic analysis identified a hemizygous missense mutation (V295E) in the CYBB gene. The mutation was inherited from the patient's clinically unaffected mother. Functional studies of the variant were not performed. </p><p><strong><em>Variant or Atypical CGD</em></strong></p><p>
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Lew et al. (1981) described a man with what the authors termed a 'variant' form of CGD. The disorder resembled CGD in some respects, but differed by showing normal activation of phagocyte membrane oxidase. However, the oxidase showed reduced activity under physiologic conditions because of an apparent altered affinity for reduced NADP. Granulocytes from the patient's mother, but not those of the father, exhibited defective superoxide production, supporting X-linked inheritance. The proband had only mild infections limited to the skin and no history of the usual systemic or visceral infections. At age 16, he developed thrombocytopenia which responded to steroids, and, at age 19, splenectomy. The mother had discoid lupus erythematosus, a disease reported to be associated with the CGD carrier state (Schaller, 1972). The maternal grandfather had a lifelong history of skin infections and was said to have died of tuberculosis at age 62. </p><p>In general, X-linked CGD is cytochrome b-negative. However, Borregaard et al. (1983) reported a family with X-linked cytochrome b-positive CGD. Curnutte (1988) suggested the existence of another type of CGD that is exceedingly rare and is characterized by X-linked inheritance but normal levels of cytochrome b. He reported 2 brothers with this disorder, referred to 4 other cases with a similar clinical picture, and suggested that these cases are allelic variants. </p><p>Clark et al. (1989) concluded that the X-linked cytochrome b-negative type of CGD due to deficiency of the beta subunit of cytochrome b represents about 51% of cases of CGD. Another 5% of cases of CGD have an X-linked cytochrome b-positive form, which is allelic to the X-linked cytochrome b-negative form, in which a mutation preserves a functionally defective but detectable cytochrome (see 300481.0001 and Dinauer et al., 1989). Patients with this rare cytochrome b-positive X-linked form of CGD were reported by Ament and Ochs (1973) and Okamura et al. (1988). </p><p>Bolscher et al. (1991) classified CGD cases as 'classic' if there was no respiratory burst activity demonstrable in a patient's neutrophils and cytochrome b(558) was absent as determined by absorption spectroscopy; they classified cases as 'variant' when a patient's neutrophils had residual burst activity and residual amounts of cytochrome b(558). These patients may also be referred to as having cytochrome b-positive X-linked CGD. </p><p><strong><em>Female Carriers</em></strong></p><p>
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The mother of the affected boy described by MacFarlane et al. (1967) had a chronic dermatitis of the neck (Jessner benign lymphocytic infiltration) and a partial defect in phagocytosis demonstrable in vitro that was qualitatively identical to that in her son. </p><p>Thompson and Soothill (1970) and Kragballe et al. (1981) described an increased incidence of cutaneous lupus erythematosus (discoid lupus erythematosus) and recurrent mouth ulcers in female carriers of X-linked CGD. The degree in reduction of superoxide production was closely related to the manifestations of clinical disease. </p><p>Finlay et al. (1983) suggested that a persistent eruption in light-exposed areas is a manifestation of the CGD heterozygous state. They observed the changes in the mother and sister of an affected boy. Similarities to cutaneous SLE and to Jessner benign lymphocytic infiltration were noted in earlier reports that have emphasized the significance of this finding (Brandrup et al., 1981; Nelson et al., 1977; Schaller, 1972). Finlay et al. (1983) called this CGDCGD (carrier genodermatosis of chronic granulomatous disease) and suggested that the skin disorder can be a useful guide in genetic counseling and prenatal diagnosis. </p>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<p>Windhorst et al. (1967) did family studies establishing X-linked recessive inheritance of CGD, and demonstrating 2 populations of leukocytes in heterozygous females. Controversy over whether the inheritance is X-linked or autosomal was illustrated by the letter of Windhorst (1969) and accompanying reply. </p>
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<strong>Diagnosis</strong>
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<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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Matthay et al. (1984) described a luminol enhanced chemiluminescence micromethod used for prenatal diagnosis of CGD. Fetal blood was useful, whereas amniocytes were not. </p><p>De Boer et al. (1992) reported successful prenatal diagnosis of CGD using PCR. </p>
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<strong>Pathogenesis</strong>
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<p>During phagocytosis, neutrophils undergo the 'respiratory burst,' an oxidative response in which highly reactive bactericidal oxidative metabolites, including superoxide, hydrogen peroxide, hydroxyl radicals, and perhaps singlet oxygen, are formed within the intact phagocyte. The NADPH oxidase complex is responsible for the respiratory burst. 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>In patients with CGD, Baehner and Nathan (1967) demonstrated a defect in a leukocyte oxidase; the intact leukocytes failed to reduce the redox dye nitroblue tetrazolium or to show increased oxygen consumption during phagocytosis. Baehner and Karnovsky (1968) found deficiency of reduced nicotinamide-adenine dinucleotide oxidase of polymorphonuclear leukocytes in 5 patients with CGD. In cells from patients with CGD, Quie et al. (1967) found diminished activity of the bacterial capacity of polymorphonuclear leukocytes. </p><p>In 2 patients with CGD, Curnutte et al. (1974) found low levels of superoxide production; both patients were male (Babior, 1974). In granulocyte samples from 3 patients with X-linked CGD, Curnutte et al. (1975) found that the cells produced no detectable superoxide. The failure was not due to an inhibitor. Samples from the mothers of 2 of the patients produced superoxide at diminished rate, whereas samples from the third mother had normal superoxide production. Hohn and Lehrer (1974) found deficiency of NADPH oxidase as the presumed basic defect in X-linked CGD. In neutrophils from a patient with CGD, Segal and Peters (1976) demonstrated a defect in an NADH-dependent enzyme located in the plasma membrane that reduces NBT. McPhail et al. (1977) also presented evidence that NADPH oxidase activity is deficient in CGD and suggested that a failure of activation of the enzyme underlies the deficiency. Of the 9 patients studied, 7 were considered to have the autosomal recessive and 2 the X-linked type. No physiologic difference between the types was detected. </p><p>In neutrophils of patients with CGD, Segal et al. (1978) demonstrated absence of a newly described heme-containing cytochrome b(-245). Obligatory CGD heterozygotes showed intermediate levels of the cytochrome b. The authors noted that the burst of oxygen metabolism associated with phagocytosis is not to provide energy for the cells, but rather is involved in the bacterial killing process. Due to the defect in the oxygen-dependent microbicidal system in CGD, neutrophils are unable to kill certain bacteria, particularly those that contain catalase and can catabolize hydrogen peroxide. The cytochrome b deficient in CGD is independent of cytochrome P450 of the endoplasmic reticulum and of mitochondrial cytochrome oxidase. Segal et al. (1983) found that cytochrome b(-245) was undetectable in 19 males with presumed X-linked CGD; heterozygous female relatives had reduced concentrations of the cytochrome and variable proportions of cells that were unable to generate superoxide, these 2 characteristics being closely correlated. Of the 19 cases, 3 were sporadic with no carrier females in the family. In all 8 patients, including 7 women, with a probable autosomal recessive form of CGD, the cytochrome was present but nonfunctional. Segal et al. (1983) reported an Asian family with affected females with depressed levels and function of cytochrome b(-245). </p><p>Tauber (1981) gave a useful analysis of neutrophil dysfunction, dividing disorders into those of each of the 4 behaviors or functions of the neutrophil: chemotaxis, phagocytosis, degranulation, and oxidative metabolism. Disorders of granule function include absent enzymes and abnormal granule formation. Tauber (1981) reviewed the evidence indicating the genetic heterogeneity of chronic granulomatous disease. </p><p>Segal (1987) determined that cytochrome b is composed of 2 closely linked subunits with approximate molecular masses of 23 kD and 91 kD. In 5 patients with X-linked CGD, neither protein was detected. Parkos et al. (1989) found that neither cytochrome b subunit, p22-phox or p91-phox, could be detected in neutrophils from 3 patients with X-linked cytochrome b-negative CGD or in 4 patients with autosomal cytochrome b-negative CGD. The authors concluded that the stable expression of either of the 2 subunits is dependent upon the other. </p><p>In an editorial, Karnovsky (1983) noted that genetic defects in CGD may occur at many levels, since it is an enzyme system rather than a single enzyme involved in the transmission of electrons during the respiratory burst. Potential affected steps include stimulation of the cell membrane; apposition of membrane-bound components of the machinery of the respiratory burst; the cytoskeleton which may control movement of membrane or cytoplasmic components; one or more enzymes that reduced cytochrome b(-245); the amount of the cytochrome present; the intimate nature of the cytochrome itself. </p><p>Variant forms of CGD, both X-linked and autosomal, have been described in which the patients' phagocytes respond to some but not to all stimuli of the oxidase system (Tauber et al., 1983). Defects in the activation system may lead to CGD, as well as absence or defect in a component of the complex oxidase system that generates superoxide and hydrogen peroxide. When monocytes from the X-linked and autosomal forms of CGD were fused, Hamers et al. (1984) showed that the hybrid cells were cytochrome-b-positive and expressed NBT-reductase activity in the presence of phorbol myristate acetate (PMA). </p><p>Buescher et al. (1985) used the ability or lack of ability to reduce NBT dye to identify 2 populations of white cells in females heterozygous for CGD. The findings in 11 heterozygotes were consistent with lyonization at a stage when 8 embryonic founder cells for the hematopoietic system were present. Individuals showed little variation, most of it attributable to experimental error among serial determinations. The variation remaining after accounting for experimental error suggests the existence of more than 400 pluripotent stem cells supporting hematopoiesis. Similar studies have been done using G6PD. </p>
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<strong>Mapping</strong>
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<p>Francke et al. (1985) studied a male patient with 3 X-linked disorders: chronic granulomatous disease with cytochrome b(-245) deficiency and McLeod red cell phenotype (300842), Duchenne muscular dystrophy (310200), and retinitis pigmentosa (see RP3, 300029). A subtle interstitial deletion of part of Xp21 was demonstrated as the presumed basis of this 'contiguous gene syndrome.' The close clustering of CGD, DMD and RP suggested by these findings was inconsistent with separate linkage data (see HISTORY and Densen et al., 1981), which indicated that McLeod and CGD are close to Xg and that DMD and RP are far from Xg. Francke et al. (1985) suggested that the deletion may contain a single defect affecting perhaps a cell membrane component which underlies all 3 disorders. Using a method for cloning the specific DNA fragment absent in patients homozygous or hemizygous for chromosomal deletions, Kunkel et al. (1985) confirmed a minute interstitial deletion of Xp21 in the patient reported by Francke et al. (1985); see 300679. </p><p>Using cloned, polymorphic DNA probes, Baehner et al. (1986) mapped CGD to Xp21.2-p21.1, proximal to DMD. CGD lies in a region of Xp that appears to have more recombination than anticipated on the basis of physical distance between markers. This linkage assignment is inconsistent with the linkage to Xg, but entirely consistent with the findings in the boy reported by Francke et al. (1985) with an interstitial deletion of Xp21, The earlier data on linkage to Xg were apparently in error. </p>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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<p>Ezekowitz et al. (1988) attempted a therapeutic trial using interferon-gamma (IFNG; 147570), an activator of phagocytes, in CGD. They observed a 5- to 10-fold increase in superoxide production by granulocytes and monocytes, a proportionate rise in granulocyte bactericidal activity, and an increase in the cellular contents of phagocyte cytochrome b and immunoreactive cytochrome b heavy chain. The findings of Ezekowitz et al. (1988) motivated multicenter groups to perform double-blinded clinical studies of IFN-gamma as a prophylactic agent in CGD, which demonstrated its clinical benefit in most patients. In these group studies, however, no apparent increases in phagocyte superoxide generation were observed. For that reason, the patient studied by Ezekowitz et al. (1988) was considered to be an exceptional case. Rae et al. (1998) showed that the patient of Ezekowitz et al. (1988) had a single-base substitution in the sixth position of the first intron of the CYBB gene (300481.0020). Condino-Neto and Newburger (2000) proposed that IFN-gamma improved the splicing efficiency of CYBB gene transcripts in that patient and corrected a nuclear processing defect due to the intronic mutation by augmenting nuclear export of normal transcripts. </p><p>Ishibashi et al. (2001) demonstrated an IFN-gamma-dependent increase of superoxide production associated with a change in the mRNA splicing pattern of CYBB gene transcripts in neutrophils from 3 patients in 1 family who had a silent mutation adjacent to intron 3 of the CYBB gene (300481.0015). They found significant differences in the splicing pattern of CYBB gene transcripts in patient neutrophils between days 1 and 25 after administration of IFN-gamma. Furthermore, a complete transcript containing the missing exons was detected in all specimens after the treatment. The changes in the splicing pattern of the transcripts and the prolonged effect on superoxide-generating ability of the patients' neutrophils indicated that IFN-gamma induced a partial correction of the abnormal splicing of CYBB gene transcripts in myeloid progenitor cells. </p><p>Ho et al. (1996) reported successful bone marrow transplantation (BMT) in a 16-month-old Australian Aboriginal boy. His HLA-identical brother was the donor. The authors reviewed 5 previous reports on BMT in patients with X-linked CGD. </p><p>Horwitz et al. (2001) treated 10 male patients with CGD by transplantation of peripheral blood stem cells from an HLA-identical sib after undergoing a nonmyeloablative conditioning regimen consisting of cyclophosphamide, fludarabine, and antithymocyte globulin. The allograft was depleted of T cells to reduce the risk of severe graft-versus-host disease (GVHD; see 614395). To reduce the risk of graft rejection, donor lymphocytes were infused at intervals after transplantation, according to a predetermined regimen. After a median follow-up of 17 months, the proportion of donor neutrophils in the circulation in 8 of 10 patients was 33 to 100%, a level that could be expected to provide normal host defense; in 6 patients the proportion was 100%. In 2 patients, graft rejection occurred. Preexisting granulomatous lesions resolved in the patients in whom transplantation was successful. Eight of the patients had the p91-phox founder disease; 1 patient each had the p22-phox form and the p47-phox form. </p><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><p>In a placebo-controlled study, Gallin et al. (2003) found that itraconazole is an effective and well-tolerated prophylaxis for fungal infections in chronic granulomatous disease. Lagakos (2003) commented on the fact that the trial required 10 years to enroll just 39 patients, thus illustrating some of the problems and options that arise in the design of clinical trials for new therapies for rare diseases. </p><p><strong><em>Gene Therapy</em></strong></p><p>
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Porter et al. (1993) used retrovirus-mediated expression of gp91-phox to reconstitute functionally NADPH oxidase activity in B-cell lines from 3 unrelated patients with X-linked CGD. The protein was glycosylated and membrane-associated, and the reconstituted oxidase was appropriately activated via protein kinase C. The kinetics of superoxide production by such reconstituted cells was similar to that of normal B-cell lines. </p><p>Ezekowitz (2001) raised the possibility that the ability to purify and manipulate stem cells from bone marrow (Orkin, 2000) may provide new approaches to somatic gene therapy. The possibility that single-gene defects could be repaired in autologous stem cells ex vivo and, on return to the patient, home selectively to the organ of choice seemed within reach. </p><p>Ott et al. (2006) reported successful treatment of X-linked CGD in 2 unrelated patients with myelosuppression followed by gene therapy using a monocistronic gamma-retroviral vector expressing the p91-phox gene to transform peripheral blood cells. Gene-modified cells predominantly in the myeloid fraction were detected as early as 21 days post-reinfusion and persisted over a year later accompanied by clinical improvement in both patients. Analysis of retroviral integration sites showed clustering of activating insertions in or near the PR domain-containing zinc finger genes MDS1 (600049)-EVI1 (165215) or PRDM16 (605557), or the SETBP1 gene that influenced regulation of long-term hematopoiesis by expanding gene-corrected myelopoiesis 3- to 4-fold in both individuals. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In a patient with cytochrome b-positive X-linked CGD, Dinauer et al. (1989) identified a mutation in the gene encoding the cytochrome b heavy chain (CYBB; 300481.0001). In 6 patients with X-linked CGD, both cytochrome b-negative and cytochrome b-positive forms, Bolscher et al. (1991) identified 6 different point mutations in the CYBB gene (300481.0002-300481.0007). </p><p>Roos (1994) reviewed 4 genetic forms of chronic granulomatous disease. Cross et al. (1996) tabulated 123 mutations in the CYBB gene known to cause chronic granulomatous disease. Heyworth et al. (1997) presented updated tables containing 64 newly identified mutations. </p><p>Ariga et al. (1998) concluded that the proportion of sporadic cases of CGD, i.e., patients in whom the mother is not a carrier, is very low, and that the proportion of sporadic carriers, i.e., mothers who inherited a new mutation, is high. These results suggested that the mutation for the disease originates mainly in male gametes. </p><p>Patino et al. (1999) reported the molecular characterization of 7 unrelated kindreds with CGD from Colombia and Brazil. In 6 of these kindreds, all mothers were carriers; in the seventh, the mutation was de novo. </p><p>Ishibashi et al. (2000) reported a statistical analysis of 229 patients from 195 families with chronic granulomatous disease in Japan and described the findings of mutation analysis of 28 and 5 unrelated patients, respectively, with gp91- and p22-phox deficiency. The ratio of male to female patients was 6.6/1, the incidence was calculated to be about 1 in 220,000 births, and the life expectancy of the patients born in the 1970s was estimated to be about 25 to 30 years. A total of 9 patients from 8 families had been found in Japan with CGD in combination with retinitis pigmentosa. Three families had a large deletion involving the CYBB gene. One patient had X-CGD in combination with McLeod syndrome (300842). </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>Cytogenetics</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>Kumatori et al. (1998) concluded that nonhomologous recombination between the CYBB gene and a LINE-1 element lies 5-kb upstream of CYBB in normal persons. They reported a patient with chronic granulomatous disease who had a 25-kb deletion extending to the 5-prime two-thirds of CYBB. The 3-prime breakpoint of the deletion was located in exon 7 of CYBB; the 5-prime breakpoint was in the LINE-1 element. There were no significant homologies between corresponding normal 5-prime and 3-prime regions flanking the breakpoint of the patient, so a nonhomologous recombination was considered the most likely mechanism for the 25-kb deletion. The analysis also showed that the patient had a novel 30-bp duplication in the 5-prime flanking region of the deletion point, which was transmitted by his mother with the deletion. The study suggested that the deletion occurred in his grandfather. </p>
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</span>
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<br />
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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>Pollock et al. (1995) created an animal model of X-linked CGD. They used gene targeting to generate mice with a null allele of the gene that encodes the 91-kD subunit of the oxidase cytochrome b. Affected hemizygous male mice lacked phagocyte superoxide production, manifested an increased susceptibility to infection with Staphylococcus aureus and Aspergillus fumigatus, and had an altered inflammatory response to thioglycollate peritonitis. They suggested that the animal model would be helpful in developing new treatments for CGD and in evaluating the role of phagocyte-derived oxidants in inflammation. </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. ROS was generated in granulomas of wildtype mice, but not CGD mice. Massive increases in the release of the cytokines Tnf (191160), Ifng, Il17 (603149), 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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<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>No abnormality of red cell Kell phenotype (see 110900) was found in 15 Japanese cases of CGD (Ito et al., 1979). It had been suggested that a defect of blood group precursor in the white cell membrane leads to deficient activation of NADH dehydrogenase in 1 form of CGD. It turned out that the cases of CGD with the McLeod phenotype, resulting from deletion of the Xk locus, represented a contiguous gene syndrome, as defined by Schmickel (1986), due to deletion of the closely linked CYBB and Xk loci in Xp21. </p><p>Densen et al. (1981) reported a highly informative family in which 4 of 8 brothers had CGD by clinical history and tests of neutrophil function. All 4 affected brothers had Kell (Kx)-negative neutrophils. The remaining 4 unaffected brothers were in good health and had normal NBT tests. However, 1 of the unaffected brothers had Kx-negative neutrophils that functioned normally. Densen et al. (1981) concluded that closely linked but distinct genes code for CGD and Kx. In addition, close linkage of the Xk and Xg loci was demonstrated; no recombinant was found in this sibship. Although it appears that the coexistence of CGD and the McLeod syndrome in some patients is due to the deletion of 2 very closely linked genes, Xk and CGD, Branch et al. (1986) showed that granulocytes lack red cell Kx antigen. The previous finding of Kx on white cells was presumably due to contamination of the testing serum by anti-WBC antibodies of non-Kx specificity. </p><p>Gallin (1988) observed an apparently autosomal dominant cytochrome-b-positive form of chronic granulomatous disease of childhood.</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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Biggar (1975); Brzica et al. (1977); Curnutte et al. (1992); D'Amelio
|
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et al. (1984); de Martinville et al. (1985); Dinauer et al. (1987);
|
|
Dinauer and Orkin (1988); Edwards (1969); Fikrig et al. (1980); Gabig
|
|
and Lefker (1984); Holmes et al. (1967); Horn and Lehrer (1975);
|
|
Johnston et al. (1975); Johnston (1982); Klebanoff and Clark (1978);
|
|
Kontras et al. (1971); Macher et al. (1982); Marsh et al. (1975);
|
|
Marsh et al. (1975); Mills et al. (1980); Nathan et al. (1969);
|
|
Newburger et al. (1979); Orkin (1987); Orkin (1989); Schmalzer and
|
|
Miller (1976); Segal (1988); Segal (1988); Soothill (1969); Taswell
|
|
et al. (1977); Thompson et al. (1969); Wolff et al. (1980)
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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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
|
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<p class="mim-text-font">
|
|
Ament, M. E., Ochs, H. D.
|
|
<strong>Gastrointestinal manifestations of chronic granulomatous disease.</strong>
|
|
New Eng. J. Med. 288: 382-387, 1973.
|
|
|
|
|
|
[PubMed: 4684040]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM197302222880802]
|
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|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ariga, T., Furuta, H., Cho, K., Sakiyama, Y.
|
|
<strong>Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers.</strong>
|
|
Pediat. Res. 44: 85-92, 1998.
|
|
|
|
|
|
[PubMed: 9667376]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1203/00006450-199807000-00014]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Babior, B. M.
|
|
<strong>Personal Communication.</strong>
|
|
Boston, Mass. 3/26/1974.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Baehner, R. L., Karnovsky, M. L.
|
|
<strong>Deficiency of reduced nicotinamide-adenine dinucleotide oxidase in chronic granulomatous disease.</strong>
|
|
Science 162: 1277-1279, 1968.
|
|
|
|
|
|
[PubMed: 4387010]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.162.3859.1277]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Baehner, R. L., Kunkel, L. M., Monaco, A. P., Haines, J. L., Conneally, P. M., Palmer, C., Heerema, N., Orkin, S. H.
|
|
<strong>DNA linkage analysis of X chromosome-linked chronic granulomatous disease.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 3398-3401, 1986.
|
|
|
|
|
|
[PubMed: 3010296]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.83.10.3398]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Baehner, R. L., Nathan, D. G.
|
|
<strong>Leukocyte oxidase: defective activity in chronic granulomatous disease.</strong>
|
|
Science 155: 835-836, 1967.
|
|
|
|
|
|
[PubMed: 6018195]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.155.3764.835]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Berendes, H., Bridges, R. A., Good, R. A.
|
|
<strong>A fatal granulomatosus of childhood: the clinical study of a new syndrome.</strong>
|
|
Minn. Med. 40: 309-312, 1957.
|
|
|
|
|
|
[PubMed: 13430573]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Biggar, W. D.
|
|
<strong>Phagocytosis in patients and carriers of chronic granulomatous disease.</strong>
|
|
Lancet 305: 991-995, 1975. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: 48723]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(75)91943-1]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
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: 3011845]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00918746]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bolscher, B. G. J. M., de Boer, M., de Klein, A., Weening, R. S., Roos, D.
|
|
<strong>Point mutations in the beta-subunit of cytochrome b(558) leading to X-linked chronic granulomatous disease.</strong>
|
|
Blood 77: 2482-2487, 1991.
|
|
|
|
|
|
[PubMed: 1710153]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Borregaard, N., Cross, A. R., Herlin, T., Jones, O. T. G., Segal, A. W., Valerius, N. H.
|
|
<strong>A variant form of X-linked chronic granulomatous disease with normal nitroblue tetrazolium slide test and cytochrome b.</strong>
|
|
Europ. J. Clin. Invest. 13: 243-248, 1983.
|
|
|
|
|
|
[PubMed: 6409648]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1365-2362.1983.tb00095.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Branch, D. R., Gaidulis, L., Lazar, G. S.
|
|
<strong>Human granulocytes lack red cell Kx antigen.</strong>
|
|
Brit. J. Haemat. 62: 747-755, 1986.
|
|
|
|
|
|
[PubMed: 3516199]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1365-2141.1986.tb04098.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Brandrup, F., Koch, C., Petri, M., Schiodt, M., Johansen, K. S.
|
|
<strong>Discoid lupus erythematosus-like lesions and stomatitis in female carriers of X-linked chronic granulomatous disease.</strong>
|
|
Brit. J. Derm. 104: 495-505, 1981.
|
|
|
|
|
|
[PubMed: 7236510]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1365-2133.1981.tb08163.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bridges, R. A., Berendes, H., Good, R. A.
|
|
<strong>A fatal granulomatous disease of childhood: the clinical, pathological, and laboratory features of a new syndrome.</strong>
|
|
AMA J. Dis. Child 97: 387-408, 1959.
|
|
|
|
|
|
[PubMed: 13636694]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Brzica, S. M., Jr., Rhodes, K. H., Pineda, A. A., Taswell, H. F.
|
|
<strong>Chronic granulomatous disease and the McLeod phenotype: successful treatment of infection with granulocyte transfusions resulting in subsequent hemolytic transfusion reaction.</strong>
|
|
Mayo Clin. Proc. 52: 153-156, 1977.
|
|
|
|
|
|
[PubMed: 839862]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Buescher, E. S., Alling, D. W., Gallin, J. I.
|
|
<strong>Use of an X-linked human neutrophil marker to estimate timing of lyonization and size of the dividing stem cell pool.</strong>
|
|
J. Clin. Invest. 76: 1581-1584, 1985.
|
|
|
|
|
|
[PubMed: 3863835]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI112140]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Carson, M. J., Chadwick, D. L., Brubaker, C. A., Cleland, R. S., Landing, B. H.
|
|
<strong>Thirteen boys with progressive septic granulomatosis.</strong>
|
|
Pediatrics 35: 405-412, 1965.
|
|
|
|
|
|
[PubMed: 14258653]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
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: 2770793]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM198909073211005]
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|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
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Condino-Neto, A., Newburger, P. E.
|
|
<strong>Interferon-gamma improves splicing efficiency of CYBB gene transcripts in an interferon-responsive variant of chronic granulomatous disease due to a splice site consensus region mutation.</strong>
|
|
Blood 95: 3548-3554, 2000.
|
|
|
|
|
|
[PubMed: 10828042]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cross, A. R., Curnutte, J. T., Rae, J., Heyworth, P. G.
|
|
<strong>Hematologically important mutations: X-linked chronic granulomatous disease.</strong>
|
|
Blood Cells Mol. Dis. 22: 90-95, 1996.
|
|
|
|
|
|
[PubMed: 8807090]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/bcmd.1996.0013]
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|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Curnutte, J. T., Hopkins, P. J., Kuhl, W., Beutler, E.
|
|
<strong>Studying X inactivation. (Letter)</strong>
|
|
Lancet 339: 749 only, 1992.
|
|
|
|
|
|
[PubMed: 1347621]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0140-6736(92)90653-k]
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</p>
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</li>
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|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Curnutte, J. T., Kipnes, R. S., Babior, B. M.
|
|
<strong>Defect in pyridine nucleotide dependent superoxide production by a particulate fraction from the granulocytes of patients with chronic granulomatous disease.</strong>
|
|
New Eng. J. Med. 293: 628-632, 1975.
|
|
|
|
|
|
[PubMed: 239342]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM197509252931303]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
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Curnutte, J. T., Whitten, D. M., Babior, B. M.
|
|
<strong>Defective superoxide production by granulocytes from patients with chronic granulomatous disease.</strong>
|
|
New Eng. J. Med. 290: 593-597, 1974.
|
|
|
|
|
|
[PubMed: 4359964]
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|
|
|
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[Full Text: https://doi.org/10.1056/NEJM197403142901104]
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Curnutte, J. T.
|
|
<strong>Classification of chronic granulomatous disease.</strong>
|
|
Hemat. Oncol. Clin. North Am. 2: 241-252, 1988.
|
|
|
|
|
|
[PubMed: 2839457]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
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D'Amelio, R., Bellavite, P., Bianco, P., De Sole, P., Le Moli, S., Lippa, S., Seminara, R., Vercelli, B., Rossi, F., Rocchi, G., Aiuti, F.
|
|
<strong>Chronic granulomatous disease in two sisters.</strong>
|
|
J. Clin. Immun. 4: 220-227, 1984.
|
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|
|
[PubMed: 6330157]
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[Full Text: https://doi.org/10.1007/BF00914969]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
de Boer, M., Bolscher, B. G. J. M., Sijmons, R. H., Scheffer, H., Weening, R. S., Roos, D.
|
|
<strong>Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction.</strong>
|
|
Prenatal Diag. 12: 773-777, 1992.
|
|
|
|
|
|
[PubMed: 1438069]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/pd.1970120910]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
de Martinville, B., Kunkel, L. M., Bruns, G., Morle, F., Koenig, M., Mandel, J. L., Horwich, A., Latt, S. A., Gusella, J. F., Housman, D., Francke, U.
|
|
<strong>Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.</strong>
|
|
Am. J. Hum. Genet. 37: 235-249, 1985.
|
|
|
|
|
|
[PubMed: 2984924]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
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: 25188296]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1371/journal.ppat.1004325]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Densen, P., Wilkinson-Kroovand, S., Mandell, G. L., Sullivan, G., Oyen, R., Marsh, W. L.
|
|
<strong>Kx: its relationship to chronic granulomatous disease and genetic linkage with Xg.</strong>
|
|
Blood 58: 34-37, 1981.
|
|
|
|
|
|
[PubMed: 7236890]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dilworth, J. A., Mandell, G. L.
|
|
<strong>Adults with chronic granulomatous disease of 'childhood'.</strong>
|
|
Am. J. Med. 63: 233-243, 1977.
|
|
|
|
|
|
[PubMed: 407791]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9343(77)90237-6]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dinauer, M. C., Curnutte, J. T., Rosen, H. R., Orkin, S. H.
|
|
<strong>A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.</strong>
|
|
J. Clin. Invest. 84: 2012-2016, 1989.
|
|
|
|
|
|
[PubMed: 2556453]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI114393]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dinauer, M. C., Nauseef, W. M., Newburger, P. E.
|
|
<strong>Inherited disorders of phagocyte killing. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. III. (8th ed.)</strong>
|
|
New York: McGraw-Hill (pub.) 2001. Pp. 4857-4887.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dinauer, M. C., Orkin, S. H., Brown, R., Jesaitis, A. J., Parkos, C. A.
|
|
<strong>The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex.</strong>
|
|
Nature 327: 717-720, 1987.
|
|
|
|
|
|
[PubMed: 3600768]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/327717a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dinauer, M. C., Orkin, S. H.
|
|
<strong>Chronic granulomatous disease: molecular genetics.</strong>
|
|
Hemat. Oncol. Clin. North Am. 2: 225-240, 1988.
|
|
|
|
|
|
[PubMed: 3292508]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Edwards, J. H.
|
|
<strong>Inheritance of chronic granulomatous disease. (Letter)</strong>
|
|
Lancet 294: 850-851, 1969. Note: Originally Volume II.
|
|
|
|
|
|
[PubMed: 4186309]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(69)92306-x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ezekowitz, R. A. B., Dinauer, M. C., Jaffe, H. S., Orkin, S. H., Newburger, P. E.
|
|
<strong>Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma.</strong>
|
|
New Eng. J. Med. 319: 146-151, 1988.
|
|
|
|
|
|
[PubMed: 2838754]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM198807213190305]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ezekowitz, R. A. B.
|
|
<strong>What is the best way to treat inherited disorders? (Editorial)</strong>
|
|
New Eng. J. Med. 344: 926-927, 2001.
|
|
|
|
|
|
[PubMed: 11259728]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM200103223441210]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fikrig, S. M., Phillipp, J. C. D., Smithwick, E. M., Oyen, R., Marsh, W. L.
|
|
<strong>Chronic granulomatous disease and McLeod syndrome in a black child.</strong>
|
|
Pediatrics 66: 403-404, 1980.
|
|
|
|
|
|
[PubMed: 7191556]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Finlay, A. Y., Kingston, H. M., Holt, P. J. A.
|
|
<strong>Chronic granulomatous disease carrier geno-dermatosis (CGDCGD).</strong>
|
|
Clin. Genet. 23: 276-280, 1983.
|
|
|
|
|
|
[PubMed: 6851217]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1983.tb01876.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Francke, U., Ochs, H. D., de Martinville, B., Giacalone, J., Lindgren, V., Disteche, C., Pagon, R. A., Hofker, M. H., van Ommen, G.-J. B., Pearson, P. L., Wedgwood, R. J.
|
|
<strong>Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.</strong>
|
|
Am. J. Hum. Genet. 37: 250-267, 1985.
|
|
|
|
|
|
[PubMed: 4039107]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gabig, T. G., Lefker, B. A.
|
|
<strong>Deficient flavoprotein component of the NADPH-dependent superoxide-generating oxidase in the neutrophils from three male patients with chronic granulomatous disease.</strong>
|
|
J. Clin. Invest. 73: 701-705, 1984.
|
|
|
|
|
|
[PubMed: 6707199]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI111262]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gallin, J. I., Alling, D. W., Malech, H. L., Wesley, R., Koziol, D., Marciano, B., Eisenstein, E. M., Turner, M. L., DeCarlo, E. S., Starling, J. M., Holland, S. M.
|
|
<strong>Itraconazole to prevent fungal infections in chronic granulomatous disease.</strong>
|
|
New Eng. J. Med. 348: 2416-2422, 2003.
|
|
|
|
|
|
[PubMed: 12802027]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMoa021931]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gallin, J. I.
|
|
<strong>Personal Communication.</strong>
|
|
Bethesda, Md. 5/1/1988.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
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: 6320013]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/307553a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Heyworth, P. G., Curnutte, J. T., Rae, J., Noack, D., Cross, A. R.
|
|
<strong>Hematologically important mutations: X-linked chronic granulomatous disease--an update.</strong>
|
|
Blood Cells Molec. Dis. 23: 443-450, 1997.
|
|
|
|
|
|
[PubMed: 9454688]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/bcmd.1997.0163]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ho, C. M. L., Vowels, M. R., Lockwood, L., Ziegler, J. B.
|
|
<strong>Successful bone marrow transplantation in a child with X-linked chronic granulomatous disease.</strong>
|
|
Bone Marrow Transplant. 18: 213-215, 1996.
|
|
|
|
|
|
[PubMed: 8832019]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hohn, D. C., Lehrer, R. I.
|
|
<strong>Identification of the defect in X-linked chronic granulomatous disease. (Abstract)</strong>
|
|
Clin. Res. 22: 394A only, 1974.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Holmes, B., Page, A. R., Good, R. A.
|
|
<strong>Studies of the metabolic activity of leukocytes from patients with a genetic abnormality of phagocytic function.</strong>
|
|
J. Clin. Invest. 46: 1422-1432, 1967.
|
|
|
|
|
|
[PubMed: 6036538]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI105634]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Horn, D. C., Lehrer, R. I.
|
|
<strong>NADPH oxidase deficiency in X-linked chronic granulomatous disease.</strong>
|
|
J. Clin. Invest. 55: 707-713, 1975.
|
|
|
|
|
|
[PubMed: 235560]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI107980]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Horwitz, M. E., Barrett, A. J., Brown, M. R., Carter, C. S., Childs, R., Gallin, J. I., Holland, S. M., Linton, G. F., Miller, J. A., Leitman, S. F., Read, E. J., Malech, H. L.
|
|
<strong>Treatment of chronic granulomatous disease with nonmyeloablative conditioning and a T-cell-depleted hematopoietic allograft.</strong>
|
|
New Eng. J. Med. 344: 881-888, 2001.
|
|
|
|
|
|
[PubMed: 11259721]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM200103223441203]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ishibashi, F., Mizukami, T., Kanegasaki, S., Motoda, L., Kakinuma, R., Endo, F., Nunoi, H.
|
|
<strong>Improved superoxide-generating ability by interferon-gamma due to splicing pattern change of transcripts in neutrophils from patients with a splice site mutation in CYBB gene.</strong>
|
|
Blood 98: 436-441, 2001.
|
|
|
|
|
|
[PubMed: 11435314]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1182/blood.v98.2.436]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ishibashi, F., Nunoi, H., Endo, F., Matsuda, I., Kanegasaki, S.
|
|
<strong>Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.</strong>
|
|
Hum. Genet. 106: 473-481, 2000.
|
|
|
|
|
|
[PubMed: 10914676]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004390000288]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ito, K., Mukumoto, Y., Konishi, H., Sakura, N., Usui, T.
|
|
<strong>Kell phenotypes in 15 Japanese patients with chronic granulomatous disease.</strong>
|
|
Vox Sang. 37: 39-40, 1979.
|
|
|
|
|
|
[PubMed: 494579]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1423-0410.1979.tb02266.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Janeway, C. A., Craig, J., Davidson, M., Downey, W., Gitlin, D., Sullivan, J. C.
|
|
<strong>Hypergammaglobulinemia associated with severe recurrent and chronic nonspecific infection.</strong>
|
|
Am. J. Dis. Child 88: 388-392, 1954.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Johnston, R. B., Jr., Keele, B. B., Jr., Misra, H. P., Lehmeyer, J. E., Webb, L. S., Baehner, R. L., Rajagopalan, K. V.
|
|
<strong>The role of superoxide anion generation in phagocytic bactericidal activity: studies with normal and chronic granulomatous disease leukocytes.</strong>
|
|
J. Clin. Invest. 55: 1357-1372, 1975.
|
|
|
|
|
|
[PubMed: 166094]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI108055]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Johnston, R. B., Jr.
|
|
<strong>Defects of neutrophil function. (Editorial)</strong>
|
|
New Eng. J. Med. 307: 434-436, 1982.
|
|
|
|
|
|
[PubMed: 7088117]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM198208123070709]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Johnston, R. B., Jr.
|
|
<strong>Clinical aspects of chronic granulomatous disease.</strong>
|
|
Curr. Opin. Hemat. 8: 17-22, 2001.
|
|
|
|
|
|
[PubMed: 11138621]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/00062752-200101000-00004]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Karnovsky, M. L.
|
|
<strong>Steps toward an understanding of chronic granulomatous disease. (Editorial)</strong>
|
|
New Eng. J. Med. 308: 274-275, 1983.
|
|
|
|
|
|
[PubMed: 6848940]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM198302033080510]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Klebanoff, S. J., Clark, R. A.
|
|
<strong>The Neutrophil: Function and Clinical Disorders.</strong>
|
|
Amsterdam: North Holland (pub.) 1978.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kontras, S. B., Bodenbender, J. G., McClave, C. R., Smith, J. P.
|
|
<strong>Interstitial cystitis in chronic granulomatous disease.</strong>
|
|
J. Urol. 105: 575-578, 1971.
|
|
|
|
|
|
[PubMed: 5556710]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-5347(17)61580-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kragballe, K., Borregaard, N., Brandrup, F., Koch, C., Johansen, K. S.
|
|
<strong>Relation of monocyte and neutrophil oxidative metabolism to skin and oral lesions in carriers of chronic granulomatous disease.</strong>
|
|
Clin. Exp. Immun. 43: 390-398, 1981.
|
|
|
|
|
|
[PubMed: 7273485]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kumatori, A., Faizunnessa, N. N., Suzuki, S., Moriuchi, T., Kurozumi, H., Nakamura, M.
|
|
<strong>Nonhomologous recombination between the cytochrome b-558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease.</strong>
|
|
Genomics 53: 123-128, 1998.
|
|
|
|
|
|
[PubMed: 9790760]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1998.5510]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kunkel, L. M., Monaco, A. P., Middlesworth, W., Ochs, H. D., Latt, S. A.
|
|
<strong>Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.</strong>
|
|
Proc. Nat. Acad. Sci. 82: 4778-4782, 1985.
|
|
|
|
|
|
[PubMed: 2991893]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.82.14.4778]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lagakos, S. W.
|
|
<strong>Clinical trials and rare diseases. (Editorial)</strong>
|
|
New Eng. J. Med. 348: 2455-2456, 2003.
|
|
|
|
|
|
[PubMed: 12802033]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMe030024]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Landing, B. H., Shirkey, H. S.
|
|
<strong>A syndrome of recurrent infection and infiltration of viscera by pigmented lipid histiocytes.</strong>
|
|
Pediatrics 20: 431-447, 1957.
|
|
|
|
|
|
[PubMed: 13465232]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lew, P. D., Southwick, F. S., Stossel, T. P., Whitin, J. C., Simons, E., Cohen, H. J.
|
|
<strong>A variant of chronic granulomatous disease: deficient oxidative metabolism due to a low-affinity NADPH oxidase.</strong>
|
|
New Eng. J. Med. 305: 1329-1333, 1981.
|
|
|
|
|
|
[PubMed: 6270561]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM198111263052207]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
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: 11060536]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1067/mpd.2000.109112]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lischner, H. W., Martyn, L. J.
|
|
<strong>Chorioretinal lesions, sea-blue histiocytes and other manifestations in familial chronic granulomatous disease.</strong>
|
|
Birth Defects Orig. Art. Ser. XI(1): 73-76, 1975.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
MacFarlane, P. S., Speirs, A. L., Sommerville, R. G.
|
|
<strong>Fatal granulomatous disease of childhood and benign lymphocytic infiltration of the skin (congenital dysphagocytosis).</strong>
|
|
Lancet 289: 408-410, 1967. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: 4163887]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(67)91174-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Macher, A. M., Casale, T. B., Fauci, A. S.
|
|
<strong>Chronic granulomatous disease of childhood and Chromobacterium violaceum infections in the southeastern United States.</strong>
|
|
Ann. Intern. Med. 97: 51-55, 1982.
|
|
|
|
|
|
[PubMed: 7092006]
|
|
|
|
|
|
[Full Text: https://doi.org/10.7326/0003-4819-97-1-51]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Marsh, W. L., Oyen, R., Nichols, M. E., Allen, F. H., Jr.
|
|
<strong>Chronic granulomatous disease and Kell blood groups.</strong>
|
|
Brit. J. Haemat. 29: 247-262, 1975.
|
|
|
|
|
|
[PubMed: 1191546]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1365-2141.1975.tb01819.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Marsh, W. L., Uretsky, S. C., Douglas, S. D.
|
|
<strong>Antigens of the Kell blood group system on neutrophils and monocytes: their relation to chronic granulomatous disease.</strong>
|
|
J. Pediat. 87: 1117-1120, 1975.
|
|
|
|
|
|
[PubMed: 52702]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(75)80124-7]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Matthay, K. K., Golbus, M. S., Wara, D. W., Mentzer, W. C.
|
|
<strong>Prenatal diagnosis of chronic granulomatous disease.</strong>
|
|
Am. J. Med. Genet. 17: 731-739, 1984.
|
|
|
|
|
|
[PubMed: 6720741]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320170404]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McPhail, L. C., DeChatelet, L. R., Shirley, P. S., Wilfert, C., Johnston, R. B., Jr., McCall, C. E.
|
|
<strong>Deficiency of NADPH oxidase activity in chronic granulomatous disease.</strong>
|
|
J. Pediat. 90: 213-217, 1977.
|
|
|
|
|
|
[PubMed: 12254]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(77)80632-x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mills, E. L., Rholl, K. S., Quie, P. G.
|
|
<strong>X-linked inheritance in females with chronic granulomatous disease.</strong>
|
|
J. Clin. Invest. 66: 332-340, 1980.
|
|
|
|
|
|
[PubMed: 7400319]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI109861]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nathan, D. G., Baehner, R. L., Weaver, D. K.
|
|
<strong>Failure of nitro blue tetrazolium reduction in the phagocytic vacuoles of leukocytes in chronic granulomatous disease.</strong>
|
|
J. Clin. Invest. 48: 1895-1904, 1969.
|
|
|
|
|
|
[PubMed: 5387730]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI106156]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nelson, C. E., Dahl, M. V., Goltz, R. W.
|
|
<strong>Arcuate dermal erythema in a carrier of chronic granulomatous disease.</strong>
|
|
Arch. Derm. 113: 798-800, 1977.
|
|
|
|
|
|
[PubMed: 869551]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Newburger, P. E., Cohen, H. J., Rothchild, S. B., Hobbins, J. C., Malawista, S. E., Mahoney, M. J.
|
|
<strong>Prenatal diagnosis of chronic granulomatous disease.</strong>
|
|
New Eng. J. Med. 300: 178-181, 1979.
|
|
|
|
|
|
[PubMed: 83536]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM197901253000406]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Okamura, N., Malawista, S. E., Roberts, R. L., Rosen, H., Ochs, H. D., Babior, B. M., Curnutte, J. T.
|
|
<strong>Phosphorylation of the oxidase-related 48K phosphoprotein family in the unusual cytochrome-negative and X-linked cytochrome-positive types of chronic granulomatous disease.</strong>
|
|
Blood 72: 811-816, 1988.
|
|
|
|
|
|
[PubMed: 3401601]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Orkin, S. H.
|
|
<strong>X-linked chronic granulomatous disease: from chromosomal position to the in vivo gene product.</strong>
|
|
Trends Genet. 3: 149-151, 1987.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Orkin, S. H.
|
|
<strong>Molecular genetics of chronic granulomatous disease.</strong>
|
|
Annu. Rev. Immun. 7: 277-307, 1989.
|
|
|
|
|
|
[PubMed: 2523713]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1146/annurev.iy.07.040189.001425]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Orkin, S. H.
|
|
<strong>Stem cell alchemy.</strong>
|
|
Nature Med. 6: 1212-1213, 2000.
|
|
|
|
|
|
[PubMed: 11062526]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/81303]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ott, M. G., Schmidt, M., Schwarzwaelder, K., Stein, S., Siler, U., Koehl, U., Glimm, H., Kuhlcke, K., Schilz, A., Kunkel, H., Naundorf, S., Brinkmann, A., and 15 others.
|
|
<strong>Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16, or SETBP1.</strong>
|
|
Nature Med. 12: 401-409, 2006.
|
|
|
|
|
|
[PubMed: 16582916]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nm1393]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Parkos, C. A., Dinauer, M. C., Jesaitis, A. J., Orkin, S. H., Curnutte, J. T.
|
|
<strong>Absence of both the 91kD and 22kD subunits of human neutrophil cytochrome b in two genetic forms of chronic granulomatous disease.</strong>
|
|
Blood 73: 1416-1420, 1989.
|
|
|
|
|
|
[PubMed: 2713485]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Patino, P. J., Perez, J. E., Lopez, J. A., Condino-Neto, A., Grumach, A. S., Botero, J. H., Curnutte, J. T., Garcia de Olarte, D.
|
|
<strong>Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox.</strong>
|
|
Hum. Mutat. 13: 29-37, 1999.
|
|
|
|
|
|
[PubMed: 9888386]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1999)13:1<29::AID-HUMU3>3.0.CO;2-X]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pollock, J. D., Williams, D. A., Gifford, M. A. C., Li, L. L., Du, X., Fisherman, J., Orkin, S. H., Doerschuk, C. M., Dinauer, M. C.
|
|
<strong>Mouse model of X-linked chronic granulomatous disease, an inherited defect in phagocyte superoxide production.</strong>
|
|
Nature Genet. 9: 202-209, 1995.
|
|
|
|
|
|
[PubMed: 7719350]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0295-202]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Porter, C. D., Parkar, M. H., Levinsky, R. J., Collins, M. K. L., Kinnon, C.
|
|
<strong>X-linked chronic granulomatous disease: correction of NADPH oxidase defect by retrovirus-mediated expression of gp91-phox.</strong>
|
|
Blood 82: 2196-2202, 1993.
|
|
|
|
|
|
[PubMed: 8400270]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Quie, P. G., White, J. G., Holmes, B., Good, R. A.
|
|
<strong>In vitro bactericidal capacity of human polymorphonuclear leukocytes: diminished activity in chronic granulomatous disease of childhood.</strong>
|
|
J. Clin. Invest. 46: 668-679, 1967.
|
|
|
|
|
|
[PubMed: 6021213]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI105568]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., Hopkins, P. J., Kuruto, R., Curnutte, J. T.
|
|
<strong>X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.</strong>
|
|
Am. J. Hum. Genet. 62: 1320-1331, 1998.
|
|
|
|
|
|
[PubMed: 9585602]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/301874]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Roos, D., van Leeuwen, K., Hsu, A. P., Priel, D. L., Begtrup, A., Brandon, R., Rawat, A., Vignesh, P., Madkaikar, M., Stasia, M. J., Bakri, F. G., de Boer, M., and 24 others.
|
|
<strong>Hematologically important mutations: the autosomal forms of chronic granulomatous disease (third update).</strong>
|
|
Blood Cells Molec. Dis. 92: 102596, 2021.
|
|
|
|
|
|
[PubMed: 34547651]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.bcmd.2021.102596]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Roos, D.
|
|
<strong>The genetic basis of chronic granulomatous disease.</strong>
|
|
Immun. Rev. 138: 121-157, 1994.
|
|
|
|
|
|
[PubMed: 8070813]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1600-065x.1994.tb00850.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schaller, J.
|
|
<strong>Illness resembling lupus erythematosus in mothers of boys with chronic granulomatous disease.</strong>
|
|
Ann. Intern. Med. 76: 747-750, 1972.
|
|
|
|
|
|
[PubMed: 5025325]
|
|
|
|
|
|
[Full Text: https://doi.org/10.7326/0003-4819-76-5-747]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schmalzer, E. A., Miller, D. R.
|
|
<strong>Chronic granulomatous disease.</strong>
|
|
Prog. Med. Genet. 1: 145-184, 1976.
|
|
|
|
|
|
[PubMed: 935507]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schmickel, R. D.
|
|
<strong>Chromosomal deletions and enzyme deficiencies.</strong>
|
|
J. Pediat. 108: 244-246, 1986.
|
|
|
|
|
|
[PubMed: 3944710]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(86)80991-x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
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: 6848934]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM198302033080503]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Segal, A. W., Peters, T. J.
|
|
<strong>Characterisation of the enzyme defect in chronic granulomatous disease.</strong>
|
|
Lancet 307: 1363-1365, 1976. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: 59010]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(76)93021-x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Segal, A. W., Webster, D., Jones, O. T. G., Allison, A. C.
|
|
<strong>Absence of a newly described cytochrome b from neutrophils of patients with chronic granulomatous disease.</strong>
|
|
Lancet 312: 446-449, 1978. Note: Originally Volume II.
|
|
|
|
|
|
[PubMed: 79807]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(78)91445-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Segal, A. W.
|
|
<strong>Variations on the theme of chronic granulomatous disease.</strong>
|
|
Lancet 325: 1378-1383, 1985. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: 2861323]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(85)91796-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Segal, A. W.
|
|
<strong>Absence of both cytochrome b-245 subunits from neutrophils in X-linked chronic granulomatous disease.</strong>
|
|
Nature 326: 88-91, 1987.
|
|
|
|
|
|
[PubMed: 3821877]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/326088a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Segal, A. W.
|
|
<strong>Cytochrome b(-245) and its involvement in the molecular pathology of chronic granulomatous disease.</strong>
|
|
Hemat. Oncol. Clin. North Am. 2: 213-223, 1988.
|
|
|
|
|
|
[PubMed: 3292507]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Segal, A. W.
|
|
<strong>The molecular and cellular pathology of chronic granulomatous disease.</strong>
|
|
Europ. J. Clin. Invest. 18: 433-443, 1988.
|
|
|
|
|
|
[PubMed: 2852593]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1365-2362.1988.tb01037.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Song, S.-M., Park, M.-R., Kim, D.-S., Kim, J., Kim, Y.-J., Ki, C.-S., Ahn, K.
|
|
<strong>Identification of a novel mutation in the CYBB gene, p.Asp378Gly, in a patient with X-linked chronic granulomatous disease.</strong>
|
|
Allergy Asthma Immun. Res. 6: 366-369, 2014.
|
|
|
|
|
|
[PubMed: 24991462]
|
|
|
|
|
|
[Full Text: https://doi.org/10.4168/aair.2014.6.4.366]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Soothill, J. F.
|
|
<strong>Inheritance of chronic granulomatous disease. (Letter)</strong>
|
|
Lancet 294: 543-544, 1969. Note: Originally Volume II.
|
|
|
|
|
|
[PubMed: 4184856]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(69)90239-6]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Southwick, F. S., van der Meer, J. W. M.
|
|
<strong>Recurrent cystitis and bladder mass in two adults with chronic granulomatous disease.</strong>
|
|
Ann. Intern. Med. 109: 118-121, 1988.
|
|
|
|
|
|
[PubMed: 3289429]
|
|
|
|
|
|
[Full Text: https://doi.org/10.7326/0003-4819-109-2-118]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Taswell, H. F., Lewis, J. C., Marsh, W. L., Wimer, B. M., Pineda, A. A., Brzica, S. M., Jr.
|
|
<strong>Erythrocyte morphology in genetic defects of the Rh and Kell blood group systems.</strong>
|
|
Mayo Clin. Proc. 52: 157-159, 1977.
|
|
|
|
|
|
[PubMed: 402512]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tauber, A. I., Borregaard, N., Simons, E., Wright, J.
|
|
<strong>Chronic granulomatous disease: a syndrome of phagocyte oxidase deficiencies.</strong>
|
|
Medicine 62: 286-309, 1983.
|
|
|
|
|
|
[PubMed: 6353131]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tauber, A. I.
|
|
<strong>Current views of neutrophil dysfunction: an integrated clinical perspective.</strong>
|
|
Am. J. Med. 70: 1237-1246, 1981.
|
|
|
|
|
|
[PubMed: 7015856]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9343(81)90833-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
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|
|
<p class="mim-text-font">
|
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Thompson, E. N., Chandra, R. K., Cope, W. A., Soothill, J. F.
|
|
<strong>Leukocyte abnormality in both parents of a patient with chronic granulomatous disease.</strong>
|
|
Lancet 293: 799-801, 1969. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: 4180360]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(69)92065-0]
|
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|
|
|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Thompson, E. N., Soothill, J. F.
|
|
<strong>Chronic granulomatous disease: quantitative clinicopathological relationships.</strong>
|
|
Arch. Dis. Child. 45: 24-32, 1970.
|
|
|
|
|
|
[PubMed: 4191616]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/adc.45.239.24]
|
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|
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</p>
|
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</li>
|
|
|
|
<li>
|
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<p class="mim-text-font">
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Windhorst, D. B., Holmes, B., Good, R. A.
|
|
<strong>A newly defined X-linked trait in man with demonstration of the Lyon effect in carrier females.</strong>
|
|
Lancet 289: 737-739, 1967. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: 4164116]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(67)91360-8]
|
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|
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</p>
|
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</li>
|
|
|
|
<li>
|
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<p class="mim-text-font">
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Windhorst, D. B.
|
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<strong>Inheritance of chronic granulomatous disease. (Letter)</strong>
|
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Lancet 294: 543-544, 1969. Note: Originally Volume II.
|
|
|
|
|
|
[PubMed: 4184856]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(69)90239-6]
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</li>
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<li>
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<p class="mim-text-font">
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Wolff, G., Muller, C. R., Jobke, A.
|
|
<strong>Linkage of genes for chronic granulomatous disease and Xg.</strong>
|
|
Hum. Genet. 54: 269-271, 1980.
|
|
|
|
|
|
[PubMed: 7390496]
|
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|
|
|
|
[Full Text: https://doi.org/10.1007/BF00278983]
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Zurro, N. B., Tavares de Albuquerque, J. A., Franca, T. T., Vendramini, P., Arslanian, C., Tavares-Scancetti, F., Condino-Neto, A.
|
|
<strong>A novel mutation in CYBB gene in a patient with chronic colitis and recurrent pneumonia due to X-linked chronic granulomatous disease.</strong>
|
|
Pediat. Blood Cancer 65: e27382, 2018. Note: Electronic Article.
|
|
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|
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[PubMed: 30094936]
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[Full Text: https://doi.org/10.1002/pbc.27382]
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Cassandra L. Kniffin - updated : 10/15/2021<br>Cassandra L. Kniffin - updated : 07/23/2020<br>Cassandra L. Kniffin - updated : 07/02/2020<br>Paul J. Converse - updated : 10/3/2014<br>Cassandra L. Kniffin - updated : 5/15/2006<br>Victor A. McKusick - updated : 1/7/2005<br>Cassandra L. Kniffin - reorganized : 3/12/2004<br>Cassandra L. Kniffin - updated : 3/11/2004<br>Victor A. McKusick - updated : 4/7/2003<br>Victor A. McKusick - updated : 2/12/2003<br>Victor A. McKusick - updated : 8/27/2002<br>Victor A. McKusick - updated : 10/9/2001<br>Deborah L. Stone - updated : 9/11/2001<br>Victor A. McKusick - updated : 9/5/2001<br>Victor A. McKusick - updated : 4/6/2001<br>Victor A. McKusick - updated : 11/2/2000<br>Victor A. McKusick - updated : 6/12/2000<br>Victor A. McKusick - updated : 3/24/1999<br>Ada Hamosh - updated : 3/9/1999<br>Victor A. McKusick - updated : 1/12/1999<br>Victor A. McKusick - updated : 11/30/1998<br>Victor A. McKusick - updated : 6/23/1998<br>Victor A. McKusick - updated : 3/30/1998<br>Iosif W. Lurie - updated : 1/8/1997<br>Stylianos E. Antonarakis - updated : 7/8/1996
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