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Entry
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- #610984 - COMPLEMENT FACTOR I DEFICIENCY; CFID
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- OMIM
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<p>
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<span class="h4">#610984</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/610984"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#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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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=COMPLEMENT FACTOR I DEFICIENCY" 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=18421&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/NBK1425/" 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/255" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/complement-factor-i-deficiency" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=610984[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=200418" 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 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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</a>
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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:0050419" 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/610984" 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="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 234621005<br />
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<strong>ORPHA:</strong> 200418<br />
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<strong>DO:</strong> 0050419<br />
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">ICD+</a>
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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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610984
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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COMPLEMENT FACTOR I DEFICIENCY; CFID
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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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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</div>
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<div>
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<h4>
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<span class="mim-font">
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C3 GLOMERULOPATHY 2; C3G2<br />
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COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY<br />
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C3 INACTIVATOR DEFICIENCY
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/4/482?start=-3&limit=10&highlight=482">
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4q25
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Complement factor I deficiency
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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/610984"> 610984 </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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</td>
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<td>
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<span class="mim-font">
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CFI
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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/217030"> 217030 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/610984" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<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>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/610984" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/610984" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
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</div>
|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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|
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<div>
|
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<span class="mim-font">
|
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|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
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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> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Recurrent sinusitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195788001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195788001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0581354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0581354</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011108" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011108</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011108" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011108</a>]</span><br />
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</span>
|
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</div>
|
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</div>
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Recurrent otitis media <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0747085&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0747085</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000403" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000403</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000403" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000403</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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|
|
|
|
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|
|
</div>
|
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|
|
</div>
|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Vasculitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/31996006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">31996006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042384&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042384</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002633" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002633</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002633" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002633</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Recurrent respiratory infections <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806482</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002205" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002205</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002205" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002205</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Renal insufficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/723188008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">723188008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236423003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236423003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N19</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">586</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1565489&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1565489</a>, <a href="https://bioportal.bioontology.org/search?q=C0035078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span><br /> -
|
|
Glomerulonephritis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36171008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36171008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N05" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N05</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N08" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N08</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017658&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017658</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000099" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000099</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000099" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000099</a>]</span><br /> -
|
|
Pyelonephritis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45816000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45816000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N10-N16" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N10-N16</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N12" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N12</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N16" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N16</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/590.80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">590.80</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034186&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034186</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012330" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012330</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012330" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012330</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Bladder </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Recurrent urinary tract infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197927001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197927001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/473116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">473116008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0262655&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0262655</a>, <a href="https://bioportal.bioontology.org/search?q=C3532611&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3532611</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000010</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000010</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">
|
|
|
|
- Arthritis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3723001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3723001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M19.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M19.90</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003864&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003864</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001369</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">
|
|
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- Recurrent skin infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/736979001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">736979001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853193&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853193</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001581</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001581</a>]</span><br />
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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">
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<strong> NEUROLOGIC </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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<div>
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Recurrent meningitis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0746495&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0746495</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006946" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006946</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006946" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006946</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">
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<strong> IMMUNOLOGY </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Decreased serum complement factor I <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970257&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970257</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005356" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005356</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005356" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005356</a>]</span><br /> -
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Activation of the alternative complement pathway and depletion of complement components <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970258&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970258</a>]</span><br /> -
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Decreased serum complement factor B (CFB, <a href="/entry/138470">138470</a>) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4021636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4021636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005416" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005416</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005416" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005416</a>]</span><br /> -
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Decreased serum complement C3 (<a href="/entry/120700">120700</a>) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837512&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837512</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005421" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005421</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005421" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005421</a>]</span><br /> -
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Decreased serum complement factor H (CFH, <a href="/entry/134370">134370</a>) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969222&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969222</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005369</a>]</span><br /> -
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Recurrent pyogenic infections <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><br /> -
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Increased susceptibility to Neisseria meningitidis infections <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970263&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970263</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005381" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005381</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005381" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005381</a>]</span><br /> -
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Increased susceptibility to Streptococcus pneumoniae infections <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970264&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970264</a>]</span><br /> -
|
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Increased susceptibility to Haemophilus influenzae infections <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970265</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset in childhood<br /> -
|
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Rarely, patients may be asymptomatic<br /> -
|
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Heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (<a href="/entry/235400">235400</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>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </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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- Caused by mutation in the complement factor I gene (CFI, <a href="/entry/217030#0001">217030.0001</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">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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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="text" class="mim-anchor"></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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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that complement factor I ('eye') deficiency (CFID) is caused by heterozygous, homozygous, or compound heterozygous mutation in the gene encoding complement factor I (CFI; <a href="/entry/217030">217030</a>) on chromosome 4q25.</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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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Hereditary deficiency of complement factor I (CFID) is associated with a propensity to pyogenic infection and usually follows an autosomal recessive pattern of inheritance (<a href="#10" class="mim-tip-reference" title="Vyse, T. J., Morley, B. J., Bartok, I., Theodoridis, E. L., Davies, K. A., Webster, A. D. B., Walport, M. J. <strong>The molecular basis of hereditary complement factor I deficiency.</strong> J. Clin. Invest. 97: 925-933, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613545</a>] [<a href="https://doi.org/10.1172/JCI118515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8613545">Vyse et al., 1996</a>). A subset of patients with CFID develop a renal disease termed 'C3 glomerulopathy' (C3G2), which is characterized by glomerular deposition of C3 observed on renal biopsy. Affected individuals have hematuria and proteinuria with variable progression of renal dysfunction (summary by <a href="#8" class="mim-tip-reference" title="Servais, A., Fremeaux-Bacchi, V., Lequintrec, M., Salomon, R., Blouin, J., Knebelmann, B., Grunfeld, J.-P., Lesavre, P., Noel, L.-H., Fakhouri, F. <strong>Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uremic syndrome.</strong> J. Med. Genet. 44: 193-199, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17018561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17018561</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17018561[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/10.1136/jmg.2006.045328" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17018561">Servais et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17018561+8613545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of C3G, see C3G1 (<a href="/entry/609814">609814</a>), also known as complement factor H deficiency.</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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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>Alper et al. (<a href="#3" class="mim-tip-reference" title="Alper, C. A., Abramson, N., Johnston, R. B., Jr., Jandl, J. H., Rosen, F. S. <strong>Studies in vivo and in vitro on an abnormality in the metabolism of C3 in a patient with increased susceptibility to infection.</strong> J. Clin. Invest. 49: 1975-1985, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4097977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4097977</a>] [<a href="https://doi.org/10.1172/JCI106417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4097977">1970</a>, <a href="#2" class="mim-tip-reference" title="Alper, C. A., Abramson, N., Johnston, R. B., Jr., Jandl, J. H., Rosen, F. S. <strong>Increased susceptibility to infection associated with abnormalities of complement-mediated functions and of the third component of complement (C3).</strong> New Eng. J. Med. 282: 349-354, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4188976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4188976</a>] [<a href="https://doi.org/10.1056/nejm197002122820701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4188976">1970</a>) and <a href="#1" class="mim-tip-reference" title="Abramson, N., Alper, C. A., Lachmann, P. J., Rosen, F. S., Jandl, J. H. <strong>Deficiency of C3 inactivator in man.</strong> J. Immun. 107: 19-27, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4997111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4997111</a>]" pmid="4997111">Abramson et al. (1971)</a> reported a patient with increased susceptibility to infection and accelerated catabolism of C3 due to deficiency of the C3 inactivator. <a href="#4" class="mim-tip-reference" title="Alper, C. A., Rosen, F. S., Lachman, P. J. <strong>Inactivator of the third component of complement as an inhibitor in the properdin pathway.</strong> Proc. Nat. Acad. Sci. 69: 2910-2913, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4507613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4507613</a>] [<a href="https://doi.org/10.1073/pnas.69.10.2910" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4507613">Alper et al. (1972)</a> demonstrated that the C3 inactivator also acts as an inhibitor in the alternative complement pathway. A study of the family of the patient with 'type I essential hypercatabolism of C3' reported by Alper et al. (<a href="#3" class="mim-tip-reference" title="Alper, C. A., Abramson, N., Johnston, R. B., Jr., Jandl, J. H., Rosen, F. S. <strong>Studies in vivo and in vitro on an abnormality in the metabolism of C3 in a patient with increased susceptibility to infection.</strong> J. Clin. Invest. 49: 1975-1985, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4097977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4097977</a>] [<a href="https://doi.org/10.1172/JCI106417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4097977">1970</a>, <a href="#2" class="mim-tip-reference" title="Alper, C. A., Abramson, N., Johnston, R. B., Jr., Jandl, J. H., Rosen, F. S. <strong>Increased susceptibility to infection associated with abnormalities of complement-mediated functions and of the third component of complement (C3).</strong> New Eng. J. Med. 282: 349-354, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4188976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4188976</a>] [<a href="https://doi.org/10.1056/nejm197002122820701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4188976">1970</a>) found that a number of relatives had values for the inactivator about 50% of normal. <a href="#4" class="mim-tip-reference" title="Alper, C. A., Rosen, F. S., Lachman, P. J. <strong>Inactivator of the third component of complement as an inhibitor in the properdin pathway.</strong> Proc. Nat. Acad. Sci. 69: 2910-2913, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4507613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4507613</a>] [<a href="https://doi.org/10.1073/pnas.69.10.2910" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4507613">Alper et al. (1972)</a> concluded that the patient was homozygous for an inherited deficiency of the C3 inactivator. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4188976+4507613+4097977+4997111" 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="Thompson, R. A., Lachmann, P. J. <strong>A second case of human C3b inhibitor (KAF) deficiency.</strong> Clin. Exp. Immun. 27: 23-29, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/849647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">849647</a>]" pmid="849647">Thompson and Lachmann (1977)</a> reported an affected girl. Vyse et al. (<a href="#11" class="mim-tip-reference" title="Vyse, T. J., Spath, P. J., Davies, K. A., Morley, B. J., Philippe, P., Athanassiou, P., Giles, C. M., Walport, M. J. <strong>Hereditary complement factor I deficiency.</strong> Quart. J. Med. 87: 385-401, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7922290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7922290</a>]" pmid="7922290">1994</a>, <a href="#10" class="mim-tip-reference" title="Vyse, T. J., Morley, B. J., Bartok, I., Theodoridis, E. L., Davies, K. A., Webster, A. D. B., Walport, M. J. <strong>The molecular basis of hereditary complement factor I deficiency.</strong> J. Clin. Invest. 97: 925-933, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613545</a>] [<a href="https://doi.org/10.1172/JCI118515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8613545">1996</a>) presented follow-up on this patient. She presented with a history of recurrent infections beginning at age 4 months with bacterial meningitis (Streptococcus pneumoniae) and otitis media. Between ages 7 and 15 years, she had 4 further episodes of meningitis, which on 2 occasions was found to be Neisseria meningitidis. She had no circulating factor I and low C3 (approximately 30% of normal controls). Her mother had about 50% circulating factor I; the father was not available for study. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8613545+7922290+849647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Vyse, T. J., Spath, P. J., Davies, K. A., Morley, B. J., Philippe, P., Athanassiou, P., Giles, C. M., Walport, M. J. <strong>Hereditary complement factor I deficiency.</strong> Quart. J. Med. 87: 385-401, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7922290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7922290</a>]" pmid="7922290">Vyse et al. (1994)</a> reported 4 cases of complement factor I deficiency from 3 families, including the patient reported by <a href="#9" class="mim-tip-reference" title="Thompson, R. A., Lachmann, P. J. <strong>A second case of human C3b inhibitor (KAF) deficiency.</strong> Clin. Exp. Immun. 27: 23-29, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/849647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">849647</a>]" pmid="849647">Thompson and Lachmann (1977)</a>, bringing the total number of reported cases to 23. In the first family, the proband presented at age 18 months with Staphylococcus epidermidis septic arthritis of the left shoulder. He subsequently had recurrent sinusitis and otitis media, and developed Neisseria meningitis at age 13 years. His older sister had no history of recurrent infections. Both the proband and his sister had no detectable circulating factor I or factor B, and a very low complement C3 level, most of which was in the form of C3B. Both parents had approximately 50% of normal circulating factor I and normal factors B and C3. An affected child in the second family had recurrent pyogenic infections and a self-limiting vasculitic illness. Using radioligand binding assays, <a href="#11" class="mim-tip-reference" title="Vyse, T. J., Spath, P. J., Davies, K. A., Morley, B. J., Philippe, P., Athanassiou, P., Giles, C. M., Walport, M. J. <strong>Hereditary complement factor I deficiency.</strong> Quart. J. Med. 87: 385-401, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7922290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7922290</a>]" pmid="7922290">Vyse et al. (1994)</a> demonstrated increased binding of C3b to erythrocytes in a patient with factor I deficiency. This C3b could not be cleaved by autologous serum but could be cleaved by normal serum or purified factor I. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7922290+849647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Sadallah, S., Gudat, F., Laissue, J. A., Spath, P. J., Schifferli, J.-A. <strong>Glomerulonephritis in a patient with complement factor I deficiency.</strong> Am. J. Kidney Dis. 33: 1153-1157, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10352206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10352206</a>] [<a href="https://doi.org/10.1016/S0272-6386(99)70155-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10352206">Sadallah et al. (1999)</a> reported a patient who had recurrent otitis, sinusitis, and bronchopneumonia since childhood. At age 24 years, he had an acute episode of systemic vasculitis with purpura, but no nephritis. Complement factor I deficiency was diagnosed at age 36 years. Uncontrolled activation of the alternative complement pathway resulted in serum depletion of other complement components, especially C3, which explained the predisposition for pyogenic infections. A progressive loss of renal function accompanied by proteinuria and hematuria started after age 40 years. Renal biopsy showed focal segmental glomerulonephritis with glomerular deposits of immunoglobulins and complement C3 and C4 fragments. In addition, there appeared to be depletion of complement receptor I (CR1; <a href="/entry/120620">120620</a>). <a href="#7" class="mim-tip-reference" title="Sadallah, S., Gudat, F., Laissue, J. A., Spath, P. J., Schifferli, J.-A. <strong>Glomerulonephritis in a patient with complement factor I deficiency.</strong> Am. J. Kidney Dis. 33: 1153-1157, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10352206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10352206</a>] [<a href="https://doi.org/10.1016/S0272-6386(99)70155-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10352206">Sadallah et al. (1999)</a> postulated a link between the factor I deficiency and glomerulonephritis in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10352206" 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="#5" class="mim-tip-reference" title="Baracho, G. V., Nudelman, V., Isaac, L. <strong>Molecular characterization of homozygous hereditary factor I deficiency.</strong> Clin. Exp. Immun. 131: 280-286, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12562389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12562389</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12562389[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/10.1046/j.1365-2249.2003.02077.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12562389">Baracho et al. (2003)</a> reported 2 Brazilian sisters, born of consanguineous parents, with complement factor I deficiency. Both had complete absence of serum factor I and decreased levels of factor H (CFH; <a href="/entry/134370">134370</a>), C3, and factor B. The older patient, who was 20 years of age, developed systemic lupus erythematosus (SLE; <a href="/entry/152700">152700</a>) and glomerulonephritis, and had several infectious episodes during her childhood. The younger sister developed a severe intestinal infection that evolved to fatal sepsis at age 3 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12562389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Grumach, A. S., Leitao, M. F., Arruk, V. G., Kirschfink, M., Condino-Neto, A. <strong>Recurrent infections in partial complement factor I deficiency: evaluation of three generations of a Brazilian family.</strong> Clin. Exp. Immun. 143: 297-304, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16412054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16412054</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16412054[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/10.1111/j.1365-2249.2005.02988.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16412054">Grumach et al. (2006)</a> reported a large consanguineous Brazilian family in which 3 individuals had complete factor I deficiency and 16 individuals had partial factor I deficiency. Those with complete deficiency had recurrent respiratory infections, skin infections, and meningitis; 1 died from sepsis. All had low serum C3, low factor H, and undetectable factor I activity. Among those with partial factor I deficiency, 10 presented with recurrent infections such as tonsillitis, pneumonia, urinary tract infections, otitis, and meningitis. One each presented with chronic arthritis and rheumatic fever, suggesting autoimmune involvement. Only 2 individuals with partial deficiency did not have recurrent infections. The authors noted that factor I deficiency partially impairs the clearance of immune complexes by phagocytes, increasing the risk for the development of immune complex-mediated diseases. <a href="#6" class="mim-tip-reference" title="Grumach, A. S., Leitao, M. F., Arruk, V. G., Kirschfink, M., Condino-Neto, A. <strong>Recurrent infections in partial complement factor I deficiency: evaluation of three generations of a Brazilian family.</strong> Clin. Exp. Immun. 143: 297-304, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16412054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16412054</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16412054[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/10.1111/j.1365-2249.2005.02988.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16412054">Grumach et al. (2006)</a> concluded that individuals with partial factor I deficiency are also at increased risk for infection and autoimmune disorders and recommended prophylactic treatment with vaccination against encapsulated bacteria and antibiotics. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16412054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Servais, A., Fremeaux-Bacchi, V., Lequintrec, M., Salomon, R., Blouin, J., Knebelmann, B., Grunfeld, J.-P., Lesavre, P., Noel, L.-H., Fakhouri, F. <strong>Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uremic syndrome.</strong> J. Med. Genet. 44: 193-199, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17018561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17018561</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17018561[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/10.1136/jmg.2006.045328" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17018561">Servais et al. (2007)</a> described a unique form of glomerulonephritis characterized by isolated mesangial C3 deposits without dense intramembranous deposits or mesangial proliferation, which the authors termed 'glomerulonephritis C3.' Heterozygous mutations in complement regulatory genes were identified in 4 of 6 unrelated patients with glomerulonephritis C3, including 2 patients each with mutations in the CFH (see, e.g., <a href="/entry/134370#0017">134370.0017</a>) and CFI (see, e.g., <a href="/entry/217030#0007">217030.0007</a>) genes, respectively. The findings indicated that dysregulation of the complement alternative pathway is associated with a wide spectrum of diseases ranging from atypical hemolytic-uremic syndrome (aHUS; <a href="/entry/235400">235400</a>) to glomerulonephritis with C3 deposits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17018561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of CFID in the families reported by Vyse et al. (<a href="#11" class="mim-tip-reference" title="Vyse, T. J., Spath, P. J., Davies, K. A., Morley, B. J., Philippe, P., Athanassiou, P., Giles, C. M., Walport, M. J. <strong>Hereditary complement factor I deficiency.</strong> Quart. J. Med. 87: 385-401, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7922290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7922290</a>]" pmid="7922290">1994</a>, <a href="#10" class="mim-tip-reference" title="Vyse, T. J., Morley, B. J., Bartok, I., Theodoridis, E. L., Davies, K. A., Webster, A. D. B., Walport, M. J. <strong>The molecular basis of hereditary complement factor I deficiency.</strong> J. Clin. Invest. 97: 925-933, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613545</a>] [<a href="https://doi.org/10.1172/JCI118515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8613545">1996</a>) was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8613545+7922290" 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 2 sibs with complement factor I deficiency reported by <a href="#11" class="mim-tip-reference" title="Vyse, T. J., Spath, P. J., Davies, K. A., Morley, B. J., Philippe, P., Athanassiou, P., Giles, C. M., Walport, M. J. <strong>Hereditary complement factor I deficiency.</strong> Quart. J. Med. 87: 385-401, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7922290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7922290</a>]" pmid="7922290">Vyse et al. (1994)</a>, <a href="#10" class="mim-tip-reference" title="Vyse, T. J., Morley, B. J., Bartok, I., Theodoridis, E. L., Davies, K. A., Webster, A. D. B., Walport, M. J. <strong>The molecular basis of hereditary complement factor I deficiency.</strong> J. Clin. Invest. 97: 925-933, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613545</a>] [<a href="https://doi.org/10.1172/JCI118515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8613545">Vyse et al. (1996)</a> identified a homozygous mutation in the CFI gene (<a href="/entry/217030#0001">217030.0001</a>). <a href="#10" class="mim-tip-reference" title="Vyse, T. J., Morley, B. J., Bartok, I., Theodoridis, E. L., Davies, K. A., Webster, A. D. B., Walport, M. J. <strong>The molecular basis of hereditary complement factor I deficiency.</strong> J. Clin. Invest. 97: 925-933, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613545</a>] [<a href="https://doi.org/10.1172/JCI118515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8613545">Vyse et al. (1996)</a> also determined that the patient originally reported by <a href="#9" class="mim-tip-reference" title="Thompson, R. A., Lachmann, P. J. <strong>A second case of human C3b inhibitor (KAF) deficiency.</strong> Clin. Exp. Immun. 27: 23-29, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/849647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">849647</a>]" pmid="849647">Thompson and Lachmann (1977)</a> was compound heterozygous for 2 mutations in the CFI gene (<a href="/entry/217030#0001">217030.0001</a>; <a href="/entry/217030#0002">217030.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8613545+7922290+849647" 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 Brazilian sisters with complement factor I deficiency, <a href="#5" class="mim-tip-reference" title="Baracho, G. V., Nudelman, V., Isaac, L. <strong>Molecular characterization of homozygous hereditary factor I deficiency.</strong> Clin. Exp. Immun. 131: 280-286, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12562389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12562389</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12562389[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/10.1046/j.1365-2249.2003.02077.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12562389">Baracho et al. (2003)</a> identified a homozygous mutation in the CFI gene (<a href="/entry/217030#0003">217030.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12562389" 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="https://doi.org/10.1056/nejm197002122820701" target="_blank">Full Text</a>]
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Alper, C. A., Abramson, N., Johnston, R. B., Jr., Jandl, J. H., Rosen, F. S.
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[<a href="https://doi.org/10.1172/JCI106417" target="_blank">Full Text</a>]
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Alper, C. A., Rosen, F. S., Lachman, P. J.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4507613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4507613</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4507613" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Baracho, G. V., Nudelman, V., Isaac, L.
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<strong>Molecular characterization of homozygous hereditary factor I deficiency.</strong>
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Clin. Exp. Immun. 131: 280-286, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12562389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12562389</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12562389[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=12562389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1365-2249.2003.02077.x" target="_blank">Full Text</a>]
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Grumach, A. S., Leitao, M. F., Arruk, V. G., Kirschfink, M., Condino-Neto, A.
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<strong>Recurrent infections in partial complement factor I deficiency: evaluation of three generations of a Brazilian family.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16412054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16412054</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16412054[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=16412054" 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.1365-2249.2005.02988.x" target="_blank">Full Text</a>]
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Sadallah, S., Gudat, F., Laissue, J. A., Spath, P. J., Schifferli, J.-A.
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<strong>Glomerulonephritis in a patient with complement factor I deficiency.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10352206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10352206</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10352206" 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/S0272-6386(99)70155-1" target="_blank">Full Text</a>]
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Servais, A., Fremeaux-Bacchi, V., Lequintrec, M., Salomon, R., Blouin, J., Knebelmann, B., Grunfeld, J.-P., Lesavre, P., Noel, L.-H., Fakhouri, F.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17018561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17018561</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17018561[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=17018561" 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/jmg.2006.045328" target="_blank">Full Text</a>]
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Thompson, R. A., Lachmann, P. J.
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<strong>A second case of human C3b inhibitor (KAF) deficiency.</strong>
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Clin. Exp. Immun. 27: 23-29, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/849647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">849647</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=849647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Vyse, T. J., Morley, B. J., Bartok, I., Theodoridis, E. L., Davies, K. A., Webster, A. D. B., Walport, M. J.
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<strong>The molecular basis of hereditary complement factor I deficiency.</strong>
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J. Clin. Invest. 97: 925-933, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613545</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8613545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI118515" target="_blank">Full Text</a>]
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Vyse, T. J., Spath, P. J., Davies, K. A., Morley, B. J., Philippe, P., Athanassiou, P., Giles, C. M., Walport, M. J.
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<strong>Hereditary complement factor I deficiency.</strong>
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Quart. J. Med. 87: 385-401, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7922290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7922290</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7922290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin - updated : 03/24/2021
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Cassandra L. Kniffin : 4/27/2007
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alopez : 03/30/2021<br>ckniffin : 03/24/2021<br>alopez : 10/05/2016<br>carol : 05/24/2016<br>carol : 12/12/2011<br>carol : 4/20/2011<br>ckniffin : 4/20/2011<br>joanna : 4/16/2009<br>terry : 6/6/2008<br>carol : 5/4/2007<br>ckniffin : 5/1/2007
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<span class="mim-font">
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<strong>#</strong> 610984
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</h3>
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<h3>
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COMPLEMENT FACTOR I DEFICIENCY; CFID
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</h3>
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<em>Alternative titles; symbols</em>
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C3 GLOMERULOPATHY 2; C3G2<br />
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COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY<br />
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C3 INACTIVATOR DEFICIENCY
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<strong>SNOMEDCT:</strong> 234621005;
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<strong>ORPHA:</strong> 200418;
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<strong>DO:</strong> 0050419;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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4q25
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Complement factor I deficiency
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<span class="mim-font">
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610984
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Autosomal recessive
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3
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CFI
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217030
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that complement factor I ('eye') deficiency (CFID) is caused by heterozygous, homozygous, or compound heterozygous mutation in the gene encoding complement factor I (CFI; 217030) on chromosome 4q25.</p>
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<strong>Description</strong>
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<p>Hereditary deficiency of complement factor I (CFID) is associated with a propensity to pyogenic infection and usually follows an autosomal recessive pattern of inheritance (Vyse et al., 1996). A subset of patients with CFID develop a renal disease termed 'C3 glomerulopathy' (C3G2), which is characterized by glomerular deposition of C3 observed on renal biopsy. Affected individuals have hematuria and proteinuria with variable progression of renal dysfunction (summary by Servais et al., 2007). </p><p>For a discussion of genetic heterogeneity of C3G, see C3G1 (609814), also known as complement factor H deficiency.</p>
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<strong>Clinical Features</strong>
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<p>Alper et al. (1970, 1970) and Abramson et al. (1971) reported a patient with increased susceptibility to infection and accelerated catabolism of C3 due to deficiency of the C3 inactivator. Alper et al. (1972) demonstrated that the C3 inactivator also acts as an inhibitor in the alternative complement pathway. A study of the family of the patient with 'type I essential hypercatabolism of C3' reported by Alper et al. (1970, 1970) found that a number of relatives had values for the inactivator about 50% of normal. Alper et al. (1972) concluded that the patient was homozygous for an inherited deficiency of the C3 inactivator. </p><p>Thompson and Lachmann (1977) reported an affected girl. Vyse et al. (1994, 1996) presented follow-up on this patient. She presented with a history of recurrent infections beginning at age 4 months with bacterial meningitis (Streptococcus pneumoniae) and otitis media. Between ages 7 and 15 years, she had 4 further episodes of meningitis, which on 2 occasions was found to be Neisseria meningitidis. She had no circulating factor I and low C3 (approximately 30% of normal controls). Her mother had about 50% circulating factor I; the father was not available for study. </p><p>Vyse et al. (1994) reported 4 cases of complement factor I deficiency from 3 families, including the patient reported by Thompson and Lachmann (1977), bringing the total number of reported cases to 23. In the first family, the proband presented at age 18 months with Staphylococcus epidermidis septic arthritis of the left shoulder. He subsequently had recurrent sinusitis and otitis media, and developed Neisseria meningitis at age 13 years. His older sister had no history of recurrent infections. Both the proband and his sister had no detectable circulating factor I or factor B, and a very low complement C3 level, most of which was in the form of C3B. Both parents had approximately 50% of normal circulating factor I and normal factors B and C3. An affected child in the second family had recurrent pyogenic infections and a self-limiting vasculitic illness. Using radioligand binding assays, Vyse et al. (1994) demonstrated increased binding of C3b to erythrocytes in a patient with factor I deficiency. This C3b could not be cleaved by autologous serum but could be cleaved by normal serum or purified factor I. </p><p>Sadallah et al. (1999) reported a patient who had recurrent otitis, sinusitis, and bronchopneumonia since childhood. At age 24 years, he had an acute episode of systemic vasculitis with purpura, but no nephritis. Complement factor I deficiency was diagnosed at age 36 years. Uncontrolled activation of the alternative complement pathway resulted in serum depletion of other complement components, especially C3, which explained the predisposition for pyogenic infections. A progressive loss of renal function accompanied by proteinuria and hematuria started after age 40 years. Renal biopsy showed focal segmental glomerulonephritis with glomerular deposits of immunoglobulins and complement C3 and C4 fragments. In addition, there appeared to be depletion of complement receptor I (CR1; 120620). Sadallah et al. (1999) postulated a link between the factor I deficiency and glomerulonephritis in this patient. </p><p>Baracho et al. (2003) reported 2 Brazilian sisters, born of consanguineous parents, with complement factor I deficiency. Both had complete absence of serum factor I and decreased levels of factor H (CFH; 134370), C3, and factor B. The older patient, who was 20 years of age, developed systemic lupus erythematosus (SLE; 152700) and glomerulonephritis, and had several infectious episodes during her childhood. The younger sister developed a severe intestinal infection that evolved to fatal sepsis at age 3 years. </p><p>Grumach et al. (2006) reported a large consanguineous Brazilian family in which 3 individuals had complete factor I deficiency and 16 individuals had partial factor I deficiency. Those with complete deficiency had recurrent respiratory infections, skin infections, and meningitis; 1 died from sepsis. All had low serum C3, low factor H, and undetectable factor I activity. Among those with partial factor I deficiency, 10 presented with recurrent infections such as tonsillitis, pneumonia, urinary tract infections, otitis, and meningitis. One each presented with chronic arthritis and rheumatic fever, suggesting autoimmune involvement. Only 2 individuals with partial deficiency did not have recurrent infections. The authors noted that factor I deficiency partially impairs the clearance of immune complexes by phagocytes, increasing the risk for the development of immune complex-mediated diseases. Grumach et al. (2006) concluded that individuals with partial factor I deficiency are also at increased risk for infection and autoimmune disorders and recommended prophylactic treatment with vaccination against encapsulated bacteria and antibiotics. </p><p>Servais et al. (2007) described a unique form of glomerulonephritis characterized by isolated mesangial C3 deposits without dense intramembranous deposits or mesangial proliferation, which the authors termed 'glomerulonephritis C3.' Heterozygous mutations in complement regulatory genes were identified in 4 of 6 unrelated patients with glomerulonephritis C3, including 2 patients each with mutations in the CFH (see, e.g., 134370.0017) and CFI (see, e.g., 217030.0007) genes, respectively. The findings indicated that dysregulation of the complement alternative pathway is associated with a wide spectrum of diseases ranging from atypical hemolytic-uremic syndrome (aHUS; 235400) to glomerulonephritis with C3 deposits. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of CFID in the families reported by Vyse et al. (1994, 1996) was consistent with autosomal recessive inheritance. </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>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 2 sibs with complement factor I deficiency reported by Vyse et al. (1994), Vyse et al. (1996) identified a homozygous mutation in the CFI gene (217030.0001). Vyse et al. (1996) also determined that the patient originally reported by Thompson and Lachmann (1977) was compound heterozygous for 2 mutations in the CFI gene (217030.0001; 217030.0002). </p><p>In 2 Brazilian sisters with complement factor I deficiency, Baracho et al. (2003) identified a homozygous mutation in the CFI gene (217030.0003). </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>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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<ol>
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<p class="mim-text-font">
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Abramson, N., Alper, C. A., Lachmann, P. J., Rosen, F. S., Jandl, J. H.
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<strong>Deficiency of C3 inactivator in man.</strong>
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J. Immun. 107: 19-27, 1971.
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[PubMed: 4997111]
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</p>
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<p class="mim-text-font">
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Alper, C. A., Abramson, N., Johnston, R. B., Jr., Jandl, J. H., Rosen, F. S.
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<strong>Increased susceptibility to infection associated with abnormalities of complement-mediated functions and of the third component of complement (C3).</strong>
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New Eng. J. Med. 282: 349-354, 1970.
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[PubMed: 4188976]
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[Full Text: https://doi.org/10.1056/nejm197002122820701]
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<p class="mim-text-font">
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Alper, C. A., Abramson, N., Johnston, R. B., Jr., Jandl, J. H., Rosen, F. S.
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<strong>Studies in vivo and in vitro on an abnormality in the metabolism of C3 in a patient with increased susceptibility to infection.</strong>
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J. Clin. Invest. 49: 1975-1985, 1970.
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[PubMed: 4097977]
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[Full Text: https://doi.org/10.1172/JCI106417]
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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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Alper, C. A., Rosen, F. S., Lachman, P. J.
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<strong>Inactivator of the third component of complement as an inhibitor in the properdin pathway.</strong>
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Proc. Nat. Acad. Sci. 69: 2910-2913, 1972.
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[PubMed: 4507613]
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[Full Text: https://doi.org/10.1073/pnas.69.10.2910]
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</p>
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<li>
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<p class="mim-text-font">
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Baracho, G. V., Nudelman, V., Isaac, L.
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<strong>Molecular characterization of homozygous hereditary factor I deficiency.</strong>
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Clin. Exp. Immun. 131: 280-286, 2003.
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[PubMed: 12562389]
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[Full Text: https://doi.org/10.1046/j.1365-2249.2003.02077.x]
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<p class="mim-text-font">
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Grumach, A. S., Leitao, M. F., Arruk, V. G., Kirschfink, M., Condino-Neto, A.
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<strong>Recurrent infections in partial complement factor I deficiency: evaluation of three generations of a Brazilian family.</strong>
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Clin. Exp. Immun. 143: 297-304, 2006.
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[PubMed: 16412054]
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[Full Text: https://doi.org/10.1111/j.1365-2249.2005.02988.x]
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<p class="mim-text-font">
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Sadallah, S., Gudat, F., Laissue, J. A., Spath, P. J., Schifferli, J.-A.
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<strong>Glomerulonephritis in a patient with complement factor I deficiency.</strong>
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Am. J. Kidney Dis. 33: 1153-1157, 1999.
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[PubMed: 10352206]
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[Full Text: https://doi.org/10.1016/S0272-6386(99)70155-1]
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<p class="mim-text-font">
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Servais, A., Fremeaux-Bacchi, V., Lequintrec, M., Salomon, R., Blouin, J., Knebelmann, B., Grunfeld, J.-P., Lesavre, P., Noel, L.-H., Fakhouri, F.
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<strong>Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uremic syndrome.</strong>
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J. Med. Genet. 44: 193-199, 2007.
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[PubMed: 17018561]
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[Full Text: https://doi.org/10.1136/jmg.2006.045328]
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<li>
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<p class="mim-text-font">
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Thompson, R. A., Lachmann, P. J.
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<strong>A second case of human C3b inhibitor (KAF) deficiency.</strong>
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Clin. Exp. Immun. 27: 23-29, 1977.
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[PubMed: 849647]
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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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Vyse, T. J., Morley, B. J., Bartok, I., Theodoridis, E. L., Davies, K. A., Webster, A. D. B., Walport, M. J.
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<strong>The molecular basis of hereditary complement factor I deficiency.</strong>
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J. Clin. Invest. 97: 925-933, 1996.
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[PubMed: 8613545]
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[Full Text: https://doi.org/10.1172/JCI118515]
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<li>
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<p class="mim-text-font">
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Vyse, T. J., Spath, P. J., Davies, K. A., Morley, B. J., Philippe, P., Athanassiou, P., Giles, C. M., Walport, M. J.
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<strong>Hereditary complement factor I deficiency.</strong>
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Quart. J. Med. 87: 385-401, 1994.
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[PubMed: 7922290]
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</ol>
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<div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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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 : 03/24/2021
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carol : 12/22/2023<br>alopez : 03/30/2021<br>ckniffin : 03/24/2021<br>alopez : 10/05/2016<br>carol : 05/24/2016<br>carol : 12/12/2011<br>carol : 4/20/2011<br>ckniffin : 4/20/2011<br>joanna : 4/16/2009<br>terry : 6/6/2008<br>carol : 5/4/2007<br>ckniffin : 5/1/2007
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