2682 lines
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Entry
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- #613779 - COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE; C3D
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- OMIM
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<p>
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<span class="h4">#613779</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/613779"><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="#otherFeatures">Other Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=20430&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/8024" 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/gene/c3" 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=613779[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=280133" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:8354" 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/613779" 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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<div><a href="https://omia.org/OMIA000155/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</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>ORPHA:</strong> 280133<br />
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<strong>DO:</strong> 8354<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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613779
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE; C3D
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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C3 DEFICIENCY, AUTOSOMAL RECESSIVE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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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/19/189?start=-3&limit=10&highlight=189">
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19p13.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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C3 deficiency
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<td>
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<span class="mim-font">
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<a href="/entry/613779"> 613779 </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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C3
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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/120700"> 120700 </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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<a href="/clinicalSynopsis/613779" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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PheneGene Graphics <span class="caret"></span>
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</button>
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<li><a href="/graph/linear/613779" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/613779" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<strong> INHERITANCE </strong>
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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 class="h5 mim-font">
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<strong> GENITOURINARY </strong>
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<span class="h5 mim-font">
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<em> Kidneys </em>
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- Membranoproliferative glomerulonephritis (in about 26%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80321008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80321008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017662&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017662</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000793" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000793</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000793" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000793</a>]</span><br /> -
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Nephrotic syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52254009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52254009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">581</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027726&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027726</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000100</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000100</a>]</span><br /> -
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Renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</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=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 />
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<strong> IMMUNOLOGY </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Recurrent bacterial 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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Autoimmune disease resembling systemic lupus erythematosus (SLE, <a href="/entry/152700">152700</a>) (in about 26%)<br />
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<strong> LABORATORY ABNORMALITIES </strong>
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- Decreased C3 activity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3151074&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3151074</a>]</span><br /> -
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Decreased C3 antigen <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3151075&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3151075</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Onset in infancy or early childhood<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the complement component 3 gene (C3, <a href="/entry/120700#0001">120700.0001</a>)<br />
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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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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<p>A number sign (#) is used with this entry because primary C3 deficiency is caused by homozygous or compound heterozygous mutation in the C3 gene (<a href="/entry/120700">120700</a>) on chromosome 19p13.</p>
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<br />
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<strong>Description</strong>
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<p>The main clinical manifestation of primary C3 deficiency is childhood-onset of recurrent bacterial infections, mainly caused by gram-negative bacteria, such as Neisseria meningitidis, Enterobacter aerogenes, Haemophilus influenzae, and Escherichia coli; infections with gram-positive bacteria also occur. Infections in the upper and lower respiratory tract, including pneumonia, episodes of sinusitis, tonsillitis, and otitis, are the most frequent consequence of the C3 deficiency. Approximately 26% of patients with C3 deficiency develop immune complex-mediated autoimmune diseases resembling systemic lupus erythematosus (see <a href="/entry/152700">152700</a>), and about 26% of patients develop mesangiocapillary or membranoproliferative glomerulonephritis, resulting in renal failure (summary by <a href="#12" class="mim-tip-reference" title="Reis, E. S., Falcao, D. A., Isaac, L. <strong>Clinical aspects and molecular basis of primary deficiencies of complement component C3 and its regulatory proteins factor I and factor H.</strong> Scand. J. Immun. 63: 155-168, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16499568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16499568</a>] [<a href="https://doi.org/10.1111/j.1365-3083.2006.01729.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16499568">Reis et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16499568" 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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<br />
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Alper, C. A., Colten, H. R., Rosen, S. F., Rabson, A. R., MacNab, G. M., Gear, J. S. S. <strong>Homozygous deficiency of C3 in a patient with repeated infections.</strong> Lancet 300: 1179-1181, 1972. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4117597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4117597</a>] [<a href="https://doi.org/10.1016/s0140-6736(72)92598-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4117597">Alper et al. (1972)</a> described a patient with a striking susceptibility to pyogenic infection who was apparently homozygous for C3 deficiency. Her C3 levels were one-thousandth or less of normal. Many relatives, including both parents, had approximately half-normal levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4117597" 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="Pussell, B. A., Bourke, E., Nayef, M., Morris, S., Peters, D. K. <strong>Complement deficiency and nephritis: a report of a family.</strong> Lancet 315: 675-677, 1980. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6103091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6103091</a>]" pmid="6103091">Pussell et al. (1980)</a> described a family in which 3 children had homozygous C3 deficiency and both parents and 2 other children were heterozygous for a C3 null gene. The family was of Palestinian-Lebanese origin, living in Kuwait; the parents were thought to be cousins. The homozygous and heterozygous children were susceptible to infection. Proteinuria and/or microscopic hematuria were present in all 3 homozygous children, and a heterozygous child had membranoproliferative glomerulonephritis. The only child with normal complement had neither nephritis nor increased susceptibility to infection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6103091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Sano, Y., Nishimukai, H., Kitamura, H., Nagaki, K., Inai, S., Hamasaki, Y., Maruyama, I., Igata, A. <strong>Hereditary deficiency of the third component of complement in two sisters with systemic lupus erythematosus-like symptoms.</strong> Arthritis Rheum. 24: 1255-1260, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7306227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7306227</a>] [<a href="https://doi.org/10.1002/art.1780241005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7306227">Sano et al. (1981)</a> reported 2 sisters with C3 deficiency and systemic lupus erythematosus (SLE; <a href="/entry/152700">152700</a>)-like symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7306227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Berger, M., Balow, J. E., Wilson, C. B., Frank, M. M. <strong>Circulating immune complexes and glomerulonephritis in a patient with congenital absence of the third component of complement.</strong> New Eng. J. Med. 308: 1009-1012, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6835307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6835307</a>] [<a href="https://doi.org/10.1056/NEJM198304283081706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6835307">Berger et al. (1983)</a> and <a href="#3" class="mim-tip-reference" title="Borzy, M. S., Gewurz, A., Wolff, L., Houghton, D., Lovrien, E. <strong>Inherited C3 deficiency with recurrent infections and glomerulonephritis.</strong> Am. J. Dis. Child. 142: 79-83, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2963536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2963536</a>] [<a href="https://doi.org/10.1001/archpedi.1988.02150010089032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2963536">Borzy et al. (1988)</a> observed C3-deficient homozygotes who developed mesangiocapillary glomerulonephritis. The association of C3 deficiency with nephritis was thought to be due to failure of a second physiologic activity of the complement system, that of promoting the disposal of immune complexes to the mononuclear phagocytic system. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2963536+6835307" 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="Nilsson, U. R., Nilsson, B., Storm, K.-E., Sjolin-Forsberg, G., Hallgren, R. <strong>Hereditary dysfunction of the third component of complement associated with a systemic lupus erythematosus-like syndrome and meningococcal meningitis.</strong> Arthritis Rheum. 35: 580-586, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1575793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1575793</a>] [<a href="https://doi.org/10.1002/art.1780350516" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1575793">Nilsson et al. (1992)</a> described 3 sisters who were compound heterozygotes for a null allele inherited from the father and a dysfunctional C3 allele inherited from the mother. Alternative pathway complement function was absent, but classic pathway complement function was partially intact. One of the sisters, the proband, had an SLE-like disease. The proband's C3 proved normally susceptible to trypsin proteolysis and partially resistant to classical pathways, but completely resistant to alternative pathway, convertase-dependent cleavage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1575793" 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="Botto, M., Fong, K. Y., So, A. K., Koch, C., Walport, M. J. <strong>Molecular basis of polymorphisms of human complement component C3.</strong> J. Exp. Med. 172: 1011-1017, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1976733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1976733</a>] [<a href="https://doi.org/10.1084/jem.172.4.1011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1976733">Botto et al. (1990)</a> studied a 10-year-old boy who had recurrent attacks of otitis media during the first 3 years of life. Between 5 and 8 years of age, he had more than 20 episodes of rash which affected his face, forearms, and hands and resembled the target lesions of erythema multiforme. Attacks were normally preceded by an upper respiratory infection, and a group A beta-hemolytic Streptococcus was isolated from his throat during 2 episodes. The parents were consanguineous ('share a common great-grandparent'). C3 could not be detected by RIA of serum from the patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1976733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="McLean, R. H., Hoefnagel, D. <strong>Partial lipodystrophy and familial C3 deficiency.</strong> Hum. Hered. 30: 149-154, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7358404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7358404</a>] [<a href="https://doi.org/10.1159/000153119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7358404">McLean and Hoefnagel (1980)</a> observed an association between partial lipodystrophy and familial C3 deficiency. A 16-year-old girl with familial C3 deficiency developed partial lipodystrophy affecting the face, arms and upper torso. The pattern was reminiscent of that observed in patients with acquired partial lipodystrophy who do not have familial C3 deficiency (<a href="/entry/608709">608709</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7358404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By segregation of C3S and C3F allotypes within a family in which a child had C3 deficiency, <a href="#5" class="mim-tip-reference" title="Botto, M., Fong, K. Y., So, A. K., Koch, C., Walport, M. J. <strong>Molecular basis of polymorphisms of human complement component C3.</strong> J. Exp. Med. 172: 1011-1017, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1976733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1976733</a>] [<a href="https://doi.org/10.1084/jem.172.4.1011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1976733">Botto et al. (1990)</a> confirmed the presence of a null C3 allele (<a href="/entry/120700#0003">120700.0003</a>), for which the patient was homozygous. Both parents were heterozygous for the null allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1976733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an Afrikaner patient with C3 deficiency described by <a href="#1" class="mim-tip-reference" title="Alper, C. A., Colten, H. R., Rosen, S. F., Rabson, A. R., MacNab, G. M., Gear, J. S. S. <strong>Homozygous deficiency of C3 in a patient with repeated infections.</strong> Lancet 300: 1179-1181, 1972. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4117597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4117597</a>] [<a href="https://doi.org/10.1016/s0140-6736(72)92598-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4117597">Alper et al. (1972)</a>, <a href="#4" class="mim-tip-reference" title="Botto, M., Fong, K. Y., So, A. K., Barlow, R., Routier, R., Morley, B. J., Walport, M. J. <strong>Homozygous hereditary C3 deficiency due to a partial gene deletion.</strong> Proc. Nat. Acad. Sci. 89: 4957-4961, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1350678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1350678</a>] [<a href="https://doi.org/10.1073/pnas.89.11.4957" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1350678">Botto et al. (1992)</a> demonstrated homozygosity for a partial deletion of the C3 gene (<a href="/entry/120700#0004">120700.0004</a>) as the molecular basis of the deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4117597+1350678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 22-year-old Japanese male patient with C3 deficiency and systemic lupus erythematosus, born of consanguineous parents, <a href="#14" class="mim-tip-reference" title="Tsukamoto, H., Horiuchi, T., Kokuba, H., Nagae, S., Nishizaka, H., Sawabe, T., Harashima, S., Himeji, D., Koyama, T., Otsuka, J., Mitoma. H., Kimoto, Y., Hashimura, C., Kitano, E., Kitamura, H., Furue, M., Harada, M. <strong>Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus.</strong> Biochem. Biophys. Res. Commun. 330: 298-304, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15781264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15781264</a>] [<a href="https://doi.org/10.1016/j.bbrc.2005.02.159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15781264">Tsukamoto et al. (2005)</a> identified a homozygous splice site mutation in the C3 gene (<a href="/entry/120700#0009">120700.0009</a>). Complement assay detected no C3 in serum and only a trace amount of C3 hemolytic activity. Both parents and 2 sibs were heterozygous for the mutation, and all had reduced levels of C3 hemolytic activity. The patient had suffered from photosensitivity, recurrent fever, and facial erythema from childhood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15781264" 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="#Grace1976" class="mim-tip-reference" title="Grace, H. J., Brereton-Stiles, G. G., Vos, G. H., Schonland, M. <strong>A family with partial and total deficiency of complement C3.</strong> S. Afr. Med. J. 50: 139-140, 1976.">Grace et al. (1976)</a>; <a href="#McLean1980" class="mim-tip-reference" title="McLean, R. H., Weinstein, A., Chapitis, J., Lowenstein, M., Rothfield, N. F. <strong>Familial partial deficiency of the third component of complement (C3) and the hypocomplementemic cutaneous vasculitis syndrome.</strong> Am. J. Med. 68: 549-558, 1980.">McLean et al. (1980)</a>; <a href="#Osofsky1977" class="mim-tip-reference" title="Osofsky, S. G., Thompson, B. H., Lint, T. F., Gewurz, H. <strong>Hereditary deficiency of 3rd component of complement in a child with fever, skin rash, and arthralgias--response to transfusion of whole blood.</strong> J. Pediat. 90: 180-186, 1977.">Osofsky et al. (1977)</a>
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Alper, C. A., Colten, H. R., Rosen, S. F., Rabson, A. R., MacNab, G. M., Gear, J. S. S.
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<strong>Homozygous deficiency of C3 in a patient with repeated infections.</strong>
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Lancet 300: 1179-1181, 1972. Note: Originally Volume II.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4117597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4117597</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4117597" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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New Eng. J. Med. 308: 1009-1012, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6835307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6835307</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6835307" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Inherited C3 deficiency with recurrent infections and glomerulonephritis.</strong>
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Am. J. Dis. Child. 142: 79-83, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2963536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2963536</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2963536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Botto, M., Fong, K. Y., So, A. K., Barlow, R., Routier, R., Morley, B. J., Walport, M. J.
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<strong>Homozygous hereditary C3 deficiency due to a partial gene deletion.</strong>
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Proc. Nat. Acad. Sci. 89: 4957-4961, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1350678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1350678</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1350678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Molecular basis of polymorphisms of human complement component C3.</strong>
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J. Exp. Med. 172: 1011-1017, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1976733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1976733</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1976733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1084/jem.172.4.1011" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Grace1976" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Grace, H. J., Brereton-Stiles, G. G., Vos, G. H., Schonland, M.
|
|
<strong>A family with partial and total deficiency of complement C3.</strong>
|
|
S. Afr. Med. J. 50: 139-140, 1976.
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|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1251291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1251291</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1251291" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="McLean1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McLean, R. H., Hoefnagel, D.
|
|
<strong>Partial lipodystrophy and familial C3 deficiency.</strong>
|
|
Hum. Hered. 30: 149-154, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7358404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7358404</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7358404" 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/10.1159/000153119" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="McLean1980" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
McLean, R. H., Weinstein, A., Chapitis, J., Lowenstein, M., Rothfield, N. F.
|
|
<strong>Familial partial deficiency of the third component of complement (C3) and the hypocomplementemic cutaneous vasculitis syndrome.</strong>
|
|
Am. J. Med. 68: 549-558, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7369233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7369233</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7369233" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0002-9343(80)90305-8" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Nilsson1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Nilsson, U. R., Nilsson, B., Storm, K.-E., Sjolin-Forsberg, G., Hallgren, R.
|
|
<strong>Hereditary dysfunction of the third component of complement associated with a systemic lupus erythematosus-like syndrome and meningococcal meningitis.</strong>
|
|
Arthritis Rheum. 35: 580-586, 1992.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1575793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1575793</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1575793" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/art.1780350516" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
|
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<a id="Osofsky1977" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Osofsky, S. G., Thompson, B. H., Lint, T. F., Gewurz, H.
|
|
<strong>Hereditary deficiency of 3rd component of complement in a child with fever, skin rash, and arthralgias--response to transfusion of whole blood.</strong>
|
|
J. Pediat. 90: 180-186, 1977.
|
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/318684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">318684</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=318684" 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/s0022-3476(77)80626-4" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Pussell1980" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Pussell, B. A., Bourke, E., Nayef, M., Morris, S., Peters, D. K.
|
|
<strong>Complement deficiency and nephritis: a report of a family.</strong>
|
|
Lancet 315: 675-677, 1980. Note: Originally Volume I.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6103091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6103091</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6103091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Reis2006" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
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Reis, E. S., Falcao, D. A., Isaac, L.
|
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<strong>Clinical aspects and molecular basis of primary deficiencies of complement component C3 and its regulatory proteins factor I and factor H.</strong>
|
|
Scand. J. Immun. 63: 155-168, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16499568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16499568</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16499568" 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.1365-3083.2006.01729.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Sano1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Sano, Y., Nishimukai, H., Kitamura, H., Nagaki, K., Inai, S., Hamasaki, Y., Maruyama, I., Igata, A.
|
|
<strong>Hereditary deficiency of the third component of complement in two sisters with systemic lupus erythematosus-like symptoms.</strong>
|
|
Arthritis Rheum. 24: 1255-1260, 1981.
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7306227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7306227</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7306227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/art.1780241005" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Tsukamoto2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Tsukamoto, H., Horiuchi, T., Kokuba, H., Nagae, S., Nishizaka, H., Sawabe, T., Harashima, S., Himeji, D., Koyama, T., Otsuka, J., Mitoma. H., Kimoto, Y., Hashimura, C., Kitano, E., Kitamura, H., Furue, M., Harada, M.
|
|
<strong>Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus.</strong>
|
|
Biochem. Biophys. Res. Commun. 330: 298-304, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15781264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15781264</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15781264" 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/j.bbrc.2005.02.159" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 4/20/2011
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini : 2/28/2011
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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carol : 07/25/2023
|
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/22/2022<br>terry : 06/02/2011<br>carol : 4/22/2011<br>terry : 4/21/2011<br>ckniffin : 4/20/2011<br>terry : 3/10/2011<br>carol : 3/2/2011<br>carol : 3/2/2011<br>carol : 3/1/2011
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
|
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<strong>#</strong> 613779
|
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</span>
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</h3>
|
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
|
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|
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COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE; C3D
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</span>
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</h3>
|
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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C3 DEFICIENCY, AUTOSOMAL RECESSIVE
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 280133;
|
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|
|
<strong>DO:</strong> 8354;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
19p13.3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
C3 deficiency
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
613779
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
C3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
120700
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
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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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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because primary C3 deficiency is caused by homozygous or compound heterozygous mutation in the C3 gene (120700) on chromosome 19p13.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<span class="mim-text-font">
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<p>The main clinical manifestation of primary C3 deficiency is childhood-onset of recurrent bacterial infections, mainly caused by gram-negative bacteria, such as Neisseria meningitidis, Enterobacter aerogenes, Haemophilus influenzae, and Escherichia coli; infections with gram-positive bacteria also occur. Infections in the upper and lower respiratory tract, including pneumonia, episodes of sinusitis, tonsillitis, and otitis, are the most frequent consequence of the C3 deficiency. Approximately 26% of patients with C3 deficiency develop immune complex-mediated autoimmune diseases resembling systemic lupus erythematosus (see 152700), and about 26% of patients develop mesangiocapillary or membranoproliferative glomerulonephritis, resulting in renal failure (summary by Reis et al., 2006). </p>
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<p>Alper et al. (1972) described a patient with a striking susceptibility to pyogenic infection who was apparently homozygous for C3 deficiency. Her C3 levels were one-thousandth or less of normal. Many relatives, including both parents, had approximately half-normal levels. </p><p>Pussell et al. (1980) described a family in which 3 children had homozygous C3 deficiency and both parents and 2 other children were heterozygous for a C3 null gene. The family was of Palestinian-Lebanese origin, living in Kuwait; the parents were thought to be cousins. The homozygous and heterozygous children were susceptible to infection. Proteinuria and/or microscopic hematuria were present in all 3 homozygous children, and a heterozygous child had membranoproliferative glomerulonephritis. The only child with normal complement had neither nephritis nor increased susceptibility to infection. </p><p>Sano et al. (1981) reported 2 sisters with C3 deficiency and systemic lupus erythematosus (SLE; 152700)-like symptoms. </p><p>Berger et al. (1983) and Borzy et al. (1988) observed C3-deficient homozygotes who developed mesangiocapillary glomerulonephritis. The association of C3 deficiency with nephritis was thought to be due to failure of a second physiologic activity of the complement system, that of promoting the disposal of immune complexes to the mononuclear phagocytic system. </p><p>Nilsson et al. (1992) described 3 sisters who were compound heterozygotes for a null allele inherited from the father and a dysfunctional C3 allele inherited from the mother. Alternative pathway complement function was absent, but classic pathway complement function was partially intact. One of the sisters, the proband, had an SLE-like disease. The proband's C3 proved normally susceptible to trypsin proteolysis and partially resistant to classical pathways, but completely resistant to alternative pathway, convertase-dependent cleavage. </p><p>Botto et al. (1990) studied a 10-year-old boy who had recurrent attacks of otitis media during the first 3 years of life. Between 5 and 8 years of age, he had more than 20 episodes of rash which affected his face, forearms, and hands and resembled the target lesions of erythema multiforme. Attacks were normally preceded by an upper respiratory infection, and a group A beta-hemolytic Streptococcus was isolated from his throat during 2 episodes. The parents were consanguineous ('share a common great-grandparent'). C3 could not be detected by RIA of serum from the patient. </p>
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<p>McLean and Hoefnagel (1980) observed an association between partial lipodystrophy and familial C3 deficiency. A 16-year-old girl with familial C3 deficiency developed partial lipodystrophy affecting the face, arms and upper torso. The pattern was reminiscent of that observed in patients with acquired partial lipodystrophy who do not have familial C3 deficiency (608709). </p>
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<p>By segregation of C3S and C3F allotypes within a family in which a child had C3 deficiency, Botto et al. (1990) confirmed the presence of a null C3 allele (120700.0003), for which the patient was homozygous. Both parents were heterozygous for the null allele. </p><p>In an Afrikaner patient with C3 deficiency described by Alper et al. (1972), Botto et al. (1992) demonstrated homozygosity for a partial deletion of the C3 gene (120700.0004) as the molecular basis of the deficiency. </p><p>In a 22-year-old Japanese male patient with C3 deficiency and systemic lupus erythematosus, born of consanguineous parents, Tsukamoto et al. (2005) identified a homozygous splice site mutation in the C3 gene (120700.0009). Complement assay detected no C3 in serum and only a trace amount of C3 hemolytic activity. Both parents and 2 sibs were heterozygous for the mutation, and all had reduced levels of C3 hemolytic activity. The patient had suffered from photosensitivity, recurrent fever, and facial erythema from childhood. </p>
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Grace et al. (1976); McLean et al. (1980); Osofsky et al. (1977)
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<strong>REFERENCES</strong>
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Alper, C. A., Colten, H. R., Rosen, S. F., Rabson, A. R., MacNab, G. M., Gear, J. S. S.
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<strong>Homozygous deficiency of C3 in a patient with repeated infections.</strong>
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Lancet 300: 1179-1181, 1972. Note: Originally Volume II.
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[PubMed: 4117597]
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[Full Text: https://doi.org/10.1016/s0140-6736(72)92598-6]
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Berger, M., Balow, J. E., Wilson, C. B., Frank, M. M.
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<strong>Circulating immune complexes and glomerulonephritis in a patient with congenital absence of the third component of complement.</strong>
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New Eng. J. Med. 308: 1009-1012, 1983.
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[PubMed: 6835307]
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[Full Text: https://doi.org/10.1056/NEJM198304283081706]
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Borzy, M. S., Gewurz, A., Wolff, L., Houghton, D., Lovrien, E.
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<strong>Inherited C3 deficiency with recurrent infections and glomerulonephritis.</strong>
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Am. J. Dis. Child. 142: 79-83, 1988.
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[PubMed: 2963536]
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[Full Text: https://doi.org/10.1001/archpedi.1988.02150010089032]
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Botto, M., Fong, K. Y., So, A. K., Barlow, R., Routier, R., Morley, B. J., Walport, M. J.
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<strong>Homozygous hereditary C3 deficiency due to a partial gene deletion.</strong>
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Proc. Nat. Acad. Sci. 89: 4957-4961, 1992.
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[PubMed: 1350678]
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[Full Text: https://doi.org/10.1073/pnas.89.11.4957]
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<p class="mim-text-font">
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Botto, M., Fong, K. Y., So, A. K., Koch, C., Walport, M. J.
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<strong>Molecular basis of polymorphisms of human complement component C3.</strong>
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J. Exp. Med. 172: 1011-1017, 1990.
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[PubMed: 1976733]
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[Full Text: https://doi.org/10.1084/jem.172.4.1011]
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Grace, H. J., Brereton-Stiles, G. G., Vos, G. H., Schonland, M.
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<strong>A family with partial and total deficiency of complement C3.</strong>
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S. Afr. Med. J. 50: 139-140, 1976.
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[PubMed: 1251291]
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McLean, R. H., Hoefnagel, D.
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<strong>Partial lipodystrophy and familial C3 deficiency.</strong>
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Hum. Hered. 30: 149-154, 1980.
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[PubMed: 7358404]
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[Full Text: https://doi.org/10.1159/000153119]
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McLean, R. H., Weinstein, A., Chapitis, J., Lowenstein, M., Rothfield, N. F.
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<strong>Familial partial deficiency of the third component of complement (C3) and the hypocomplementemic cutaneous vasculitis syndrome.</strong>
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Am. J. Med. 68: 549-558, 1980.
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[PubMed: 7369233]
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[Full Text: https://doi.org/10.1016/0002-9343(80)90305-8]
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Nilsson, U. R., Nilsson, B., Storm, K.-E., Sjolin-Forsberg, G., Hallgren, R.
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<strong>Hereditary dysfunction of the third component of complement associated with a systemic lupus erythematosus-like syndrome and meningococcal meningitis.</strong>
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Arthritis Rheum. 35: 580-586, 1992.
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[PubMed: 1575793]
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[Full Text: https://doi.org/10.1002/art.1780350516]
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Osofsky, S. G., Thompson, B. H., Lint, T. F., Gewurz, H.
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<strong>Hereditary deficiency of 3rd component of complement in a child with fever, skin rash, and arthralgias--response to transfusion of whole blood.</strong>
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J. Pediat. 90: 180-186, 1977.
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[PubMed: 318684]
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[Full Text: https://doi.org/10.1016/s0022-3476(77)80626-4]
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Pussell, B. A., Bourke, E., Nayef, M., Morris, S., Peters, D. K.
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<strong>Complement deficiency and nephritis: a report of a family.</strong>
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Lancet 315: 675-677, 1980. Note: Originally Volume I.
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[PubMed: 6103091]
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Reis, E. S., Falcao, D. A., Isaac, L.
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<strong>Clinical aspects and molecular basis of primary deficiencies of complement component C3 and its regulatory proteins factor I and factor H.</strong>
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Scand. J. Immun. 63: 155-168, 2006.
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[PubMed: 16499568]
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[Full Text: https://doi.org/10.1111/j.1365-3083.2006.01729.x]
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Sano, Y., Nishimukai, H., Kitamura, H., Nagaki, K., Inai, S., Hamasaki, Y., Maruyama, I., Igata, A.
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<strong>Hereditary deficiency of the third component of complement in two sisters with systemic lupus erythematosus-like symptoms.</strong>
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Arthritis Rheum. 24: 1255-1260, 1981.
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[PubMed: 7306227]
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[Full Text: https://doi.org/10.1002/art.1780241005]
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Tsukamoto, H., Horiuchi, T., Kokuba, H., Nagae, S., Nishizaka, H., Sawabe, T., Harashima, S., Himeji, D., Koyama, T., Otsuka, J., Mitoma. H., Kimoto, Y., Hashimura, C., Kitano, E., Kitamura, H., Furue, M., Harada, M.
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<strong>Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus.</strong>
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Biochem. Biophys. Res. Commun. 330: 298-304, 2005.
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[PubMed: 15781264]
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[Full Text: https://doi.org/10.1016/j.bbrc.2005.02.159]
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Cassandra L. Kniffin - updated : 4/20/2011
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carol : 07/25/2023<br>carol : 04/22/2022<br>terry : 06/02/2011<br>carol : 4/22/2011<br>terry : 4/21/2011<br>ckniffin : 4/20/2011<br>terry : 3/10/2011<br>carol : 3/2/2011<br>carol : 3/2/2011<br>carol : 3/1/2011
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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