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Entry
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- #142680 - PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT; FPF
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- OMIM
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<p>
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<span class="h4">#142680</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/142680"><strong>Clinical Synopsis</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="#clinicalManagement">Clinical Management</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#history">History</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=PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT" 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=10303&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/NBK586171/" 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/5672" 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/tumor-necrosis-factor-receptor-associated-periodic-syndrome" 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=142680[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=32960" 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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</a>
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</span>
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</span>
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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:0090018" 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/142680" 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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 403833009<br />
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<strong>ORPHA:</strong> 32960<br />
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<strong>DO:</strong> 0090018<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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142680
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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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PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT; FPF
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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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HIBERNIAN FEVER, FAMILIAL; FHF<br />
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FAMILIAL HIBERNIAN FEVER<br />
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TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PERIODIC SYNDROME; TRAPS<br />
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TNF RECEPTOR-ASSOCIATED PERIODIC SYNDROME
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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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</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/12/48?start=-3&limit=10&highlight=48">
|
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12p13.31
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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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Periodic fever, familial
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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/142680"> 142680 </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 dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
TNFRSF1A
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191190"> 191190 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
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|
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|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/142680" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<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/142680" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/142680" 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>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Periorbital edema <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49563000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49563000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151205&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151205</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100539" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100539</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100539" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100539</a>]</span><br /> -
|
|
Conjunctival injection <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193894004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193894004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H11.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H11.43</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/372.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">372.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1761613&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1761613</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030953" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030953</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030953" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030953</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Pleuritic pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/2237002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">2237002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R07.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R07.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008033&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008033</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033771</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Recurrent abdominal pains <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/439469002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">439469002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2585575&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2585575</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hepatic amyloidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9551004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9551004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0267839&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0267839</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012280</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">
|
|
|
|
- Arthralgias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57676002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57676002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M25.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M25.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/719.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.40</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/719.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003862&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003862</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</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">
|
|
|
|
- Migratory rashes, painful <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675168</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Myalgias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68962001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68962001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M79.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M79.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231528&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231528</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003326</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003326</a>]</span><br /> -
|
|
Muscle stiffness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16046003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16046003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221170</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003552" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003552</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003552" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003552</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> METABOLIC FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Fever, periodic, recurrent <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675173&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675173</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
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|
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|
|
|
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|
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|
|
|
|
|
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|
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|
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|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
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- Caused by mutation in the tumor necrosis factor receptor superfamily member 1A gene (TNFRSF1A, <a href="/entry/191190#0001">191190.0001</a>).<br />
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant familial periodic fever (FPF) is caused by heterozygous mutation in the tumor necrosis factor receptor-1 gene (TNFRSF1A; <a href="/entry/191190">191190</a>) on chromosome 12p13.</p>
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<p>Familial periodic fever (FPF) is an autoinflammatory disorder characterized by recurrent fever with localized myalgia and painful erythema. Febrile attacks may last 1 or 2 days but often last longer than 1 week. Arthralgia of large joints, abdominal pain, conjunctivitis, and periorbital edema are common features. During attacks, painless cutaneous lesions may develop on the trunk or extremities and may migrate distally (review by <a href="#4" class="mim-tip-reference" title="Drenth, J. P. H., van der Meer, J. W. M. <strong>Hereditary periodic fever.</strong> New Eng. J. Med. 345: 1748-1757, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11742050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11742050</a>] [<a href="https://doi.org/10.1056/NEJMra010200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11742050">Drenth and van der Meer, 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11742050" 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="#17" class="mim-tip-reference" title="Williamson, L. M., Hull, D., Mehta, R., Reeves, W. G., Robinson, B. H. B., Toghill, P. J. <strong>Familial hibernian fever.</strong> Quart. J. Med. 51: 469-480, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7156325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7156325</a>]" pmid="7156325">Williamson et al. (1982)</a> described an Irish-Scottish family with an autosomal dominant 'periodic disease' characterized by recurrent attacks of fever, abdominal pain, localized tender skin lesions, and myalgia. Pleurisy, leukocytosis, and high erythrocyte sedimentation rate were other features. The disease pursued a benign course and no patient had developed amyloidosis. At least 13 persons in 5 sibships of 3 generations were affected, with 4 instances of male-to-male transmission. The disorder in this family was termed 'familial Hibernian fever.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7156325" 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="Bouroncle, B. A., Doan, C. A. <strong>'Periodic fever': occurrence in five generations.</strong> Am. J. Med. 23: 502-506, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13458215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13458215</a>] [<a href="https://doi.org/10.1016/0002-9343(57)90330-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13458215">Bouroncle and Doan (1957)</a> described 12 cases of periodic fever in 6 sibships in 5 generations of a family. No abnormality was detected by clinical examinations during and between attacks or by many laboratory studies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13458215" 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="#14" class="mim-tip-reference" title="Wang, J., Zheng, L., Lobito, A., Chan, F. K., Dale, J., Sneller, M., Yao, X., Puck, J. M., Straus, S. E., Lenardo, M. J. <strong>Inherited human caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.</strong> Cell 98: 47-58, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10412980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10412980</a>] [<a href="https://doi.org/10.1016/S0092-8674(00)80605-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10412980">Wang et al. (1999)</a> reported a 10-year-old Ashkenazi Jewish boy who developed lymphadenopathy at age 11 months, followed by bouts of prolonged fever, splenomegaly, elevated sedimentation rate, anemia, and reticulocytosis. At age 3 years, he had noninfectious lymphocytic meningitis followed by optic neuritis, indicating a pattern of disparate inflammatory conditions. At the time of report, he exhibited adenopathy and splenomegaly. Autoantibodies were not detected, but lymphocyte phenotyping showed a dramatic T and B lymphocytosis and increased CD4-, CD8- T cells, especially a striking increase in CD4-, CD8- gamma/delta T cells. Both parents were clinically normal. Although the boy was originally diagnosed with autoimmune lymphoproliferative syndrome type IIA (ALPS2A; <a href="/entry/603909">603909</a>), he was later found to have a pathogenic mutation in the TNFRSF1A gene, consistent with a diagnosis of TRAPS (<a href="#18" class="mim-tip-reference" title="Zhu, S., Hsu, A. P., Vacek, M. M., Zheng, L., Schaffer, A. A., Dale, J. K., Davis, J., Fischer, R. E., Straus, S. E., Boruchov, D., Saulsbury, F. T., Lenardo, M. J., Puck, J. M. <strong>Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.</strong> Hum. Genet. 119: 284-294, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16446975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16446975</a>] [<a href="https://doi.org/10.1007/s00439-006-0138-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16446975">Zhu et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10412980+16446975" 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="Toro, J. R., Aksentijevich, I., Hull, K., Dean, J., Kastner, D. <strong>Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations.</strong> Arch. Derm. 136: 1487-1494, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11115159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11115159</a>] [<a href="https://doi.org/10.1001/archderm.136.12.1487" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11115159">Toro et al. (2000)</a> described the cutaneous features of 25 patients with clinically and molecularly diagnosed FPF, which they referred to as 'tumor necrosis factor receptor-associated periodic syndrome' (TRAPS). Twenty-one patients (84%) had cutaneous manifestations. Migratory macules and patches were the most common findings. In addition, 10 patients (40%) exhibited erythematous edematous plaques. Lesions usually occurred during febrile episodes, were most commonly seen on the extremities, were often associated with myalgia, and lasted 4 to 21 days. Biopsies of lesional skin were obtained from 10 patients. The histologic findings were nonspecific, consisting of infiltrating T lymphocytes and monocytes, and could not be distinguished from a viral exanthem or serum sickness-like reaction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11115159" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Wildemann, B., Rudofsky, G., Jr., Kress, B., Jarius, S., Konig, F., Schwenger, V. <strong>The tumor necrosis factor-associated periodic syndrome, the brain, and tumor necrosis factor-A antagonists.</strong> Neurology 68: 1742-1744, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17360963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17360963</a>] [<a href="https://doi.org/10.1212/01.wnl.0000260226.21010.2b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17360963">Wildemann et al. (2007)</a> reported a man with periodic fever syndrome who developed central nervous system involvement. Since childhood, he had experienced recurrent attacks of fever, myalgias, arthralgias, and painful migratory rashes. At age 38, he developed brainstem and cerebellar symptoms from a T-cell predominant inflammatory infiltrate without evidence of demyelination. Treatment with a TNF-alpha antagonist resulted in marked clinical improvement with mild residual symptoms. Genetic analysis identified a heterozygous mutation in the TNFRSF1A gene (C55A; <a href="/entry/191190#0012">191190.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17360963" 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 FPF in the families reported by <a href="#8" class="mim-tip-reference" title="McDermott, M. F., Aksentijevich, I., Galon, J., McDermott, E. M., Ogunkolade, B. W., Centola, M., Mansfield, E., Gadina, M., Karenko, L., Pettersson, T., McCarthy, J., Frucht, D. M., and 21 others. <strong>Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.</strong> Cell 97: 133-144, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10199409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10199409</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80721-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10199409">McDermott et al. (1999)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10199409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#15" class="mim-tip-reference" title="Weyhreter, H., Schwartz, M., Kristensen, T. D., Valerius, N. H., Paerregaard, A. <strong>A new mutation causing autosomal dominant periodic fever syndrome in a Danish family.</strong> J. Pediat. 142: 191-193, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12584543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12584543</a>] [<a href="https://doi.org/10.1067/mpd.2003.15" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12584543">Weyhreter et al. (2003)</a> reported a Danish family with TRAPS in which the youngest affected member was treated successfully with etanercept (a fusion protein of the extracellular domain of TNFRSF1A and the Fc portion of IgG1) at age 18 months following lack of response to infliximab or of a sustained response to prednisolone. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12584543" 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>Mulley et al. (<a href="#10" class="mim-tip-reference" title="Mulley, J., Saar, K., Hewitt, G., Ruschendorf, F., Phillips, H., Colley, A., Sillence, D., Reis, A., Wilson, M. <strong>Gene localisation for an autosomal dominant familial periodic fever. (Abstract)</strong> Am. J. Hum. Genet. 61 (suppl.): A287 only, 1997."None>1997</a>, <a href="#11" class="mim-tip-reference" title="Mulley, J., Saar, K., Hewitt, G., Ruschendorf, F., Phillips, H., Colley, A., Sillence, D., Reis, A., Wilson, M. <strong>Gene localization for an autosomal dominant familial periodic fever to 12p13.</strong> Am. J. Hum. Genet. 62: 884-889, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529351</a>] [<a href="https://doi.org/10.1086/301793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529351">1998</a>) found frequent recombination of FPF with the marker D16S2622 located within 1 Mb of familial Mediterranean fever at 16p13.3, thus excluding allelism between these clinically similar conditions. By a genomewide search, they detected linkage to a cluster of markers at 12p13, with a multipoint lod score of 6.14 at D12S356. Assuming penetrance of 90%, they assigned the relevant gene (symbolized FPF by them) to a 19-cM interval between D12S314 and D12S364. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529351" 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="McDermott, M. F., Ogunkolade, B. W., McDermott, E. M., Jones, L. C., Wan, Y., Quane, K. A., McCarthy, J., Phelan, M., Molloy, M. G., Powell, R. J., Amos, C. I., Hitman, G. A. <strong>Linkage of familial Hibernian fever to chromosome 12p13.</strong> Am. J. Hum. Genet. 62: 1446-1451, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585614</a>] [<a href="https://doi.org/10.1086/301886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585614">McDermott et al. (1998)</a> confirmed the assignment of familial Hibernian fever to 12p13 by studies in the originally reported Irish-Scottish family (6:<a href="#17" class="mim-tip-reference" title="Williamson, L. M., Hull, D., Mehta, R., Reeves, W. G., Robinson, B. H. B., Toghill, P. J. <strong>Familial hibernian fever.</strong> Quart. J. Med. 51: 469-480, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7156325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7156325</a>]" pmid="7156325">Williamson et al., 1982</a>) and in 2 Irish families with similar clinical features (<a href="#12" class="mim-tip-reference" title="Quane, K. A., McDermott, M. F., McCarthy, J., Daly, M., Phelan, M., Davey, S. R., Sachs, J. A., Hitman, G. A., Shanahan, F., Molloy, M. G. <strong>Autosomal dominant periodic fever in two Irish pedigrees. (Abstract)</strong> Brit. J. Rheum. 36 (suppl. 1): 142 only, 1997."None>Quane et al., 1997</a>). Cumulative multipoint linkage analyses indicated that the gene, which they symbolized FHF (in parallel with the FMF of familial Mediterranean fever), is likely to be located in an 8-cM interval between D12S77 and D12S356, with a maximum lod score of 3.79. The 2-point maximum lod score was 3.11 for D12S77. There was no evidence of genetic heterogeneity in these 3 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7156325+9585614" 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 affected members of families segregating periodic fever, <a href="#8" class="mim-tip-reference" title="McDermott, M. F., Aksentijevich, I., Galon, J., McDermott, E. M., Ogunkolade, B. W., Centola, M., Mansfield, E., Gadina, M., Karenko, L., Pettersson, T., McCarthy, J., Frucht, D. M., and 21 others. <strong>Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.</strong> Cell 97: 133-144, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10199409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10199409</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80721-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10199409">McDermott et al. (1999)</a> identified germline mutations in the TNFRSF1A gene (<a href="/entry/191190#0001">191190.0001</a>-<a href="/entry/191190#0006">191190.0006</a>), which had been identified as a candidate gene by linkage studies. The families studied included those reported by <a href="#11" class="mim-tip-reference" title="Mulley, J., Saar, K., Hewitt, G., Ruschendorf, F., Phillips, H., Colley, A., Sillence, D., Reis, A., Wilson, M. <strong>Gene localization for an autosomal dominant familial periodic fever to 12p13.</strong> Am. J. Hum. Genet. 62: 884-889, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529351</a>] [<a href="https://doi.org/10.1086/301793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529351">Mulley et al. (1998)</a> and <a href="#9" class="mim-tip-reference" title="McDermott, M. F., Ogunkolade, B. W., McDermott, E. M., Jones, L. C., Wan, Y., Quane, K. A., McCarthy, J., Phelan, M., Molloy, M. G., Powell, R. J., Amos, C. I., Hitman, G. A. <strong>Linkage of familial Hibernian fever to chromosome 12p13.</strong> Am. J. Hum. Genet. 62: 1446-1451, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585614</a>] [<a href="https://doi.org/10.1086/301886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585614">McDermott et al. (1998)</a>, a Finnish family reported by <a href="#6" class="mim-tip-reference" title="Karenko, L., Pettersson, T., Roberts, P. <strong>Autosomal dominant 'Mediterranean fever' in a Finnish family.</strong> J. Intern. Med. 232: 365-369, 1992. Note: Erratum: J. Intern. Med. 233: 101 only, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1402641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1402641</a>] [<a href="https://doi.org/10.1111/j.1365-2796.1992.tb00600.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1402641">Karenko et al. (1992)</a>, and 3 small North American families of Irish/English/German, Irish, and French-Canadian ancestry. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1402641+10199409+9529351+9585614" 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="#1" class="mim-tip-reference" title="Aganna, E., Aksentijevich, I., Hitman, G. A., Kastner, D. L., Hoepelman, A. I. M., Posma, F. D., Zweers, E. J. K., McDermott, M. F. <strong>Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance.</strong> Europ. J. Hum. Genet. 9: 63-66, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11175303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11175303</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200573" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11175303">Aganna et al. (2001)</a> identified a mutation in the TNFRSF1A gene (<a href="/entry/191190#0007">191190.0007</a>) in a 2-generation Dutch family with TRAPS. The mutation was present in the affected father and in all of his 4 children (the affected proposita, a mildly affected son, and 2 unaffected children) but was not found in 120 control chromosomes from unaffected Dutch individuals. Low soluble plasma levels of TNFRSF1A segregated with the mutation in all the children, including those who were unaffected. The authors suggested that low levels of soluble TNFRSF1A in combination with particular environmental insults may be necessary to produce the full-blown phenotype. They also raised the possibility that TNFRSF1A mutations may be present in mildly symptomatic or indeed asymptomatic persons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11175303" 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>According to <a href="#7" class="mim-tip-reference" title="Kastner, D. L. <strong>Personal Communication.</strong> Bethesda, Md. 1/27/2003."None>Kastner (2003)</a>, the gene for 'Hibernian fever' came from the Scottish (mother's) side of the family; hence, it should be called Caledonian fever rather than Hibernian fever.</p>
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<p>In 2 brothers with periodic fever, <a href="#5" class="mim-tip-reference" title="Driesen, O., Voute, P. A., Jr., Vermeulen, A. <strong>A description of two brothers with permanently raised non-esterified aetiocholanolone blood level.</strong> Acta Endocr. 57: 177-186, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4229818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4229818</a>] [<a href="https://doi.org/10.1530/acta.0.0570177" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4229818">Driesen et al. (1968)</a> found that the nonesterified etiocholanolone level of the blood was raised not only during febrile attacks but also in fever-free periods. A sister had attacks of fever of unexplained origin accompanied by abdominal pain and rash but had no symptoms after menarche. <a href="#3" class="mim-tip-reference" title="Drenth, J. P. H., Haagsma, C. J., van der Meer, J. W. M., the International Hyper-IgD Study Group. <strong>Hyperimmunoglobulinemia D and periodic fever syndrome: the clinical spectrum in a series of 50 patients.</strong> Medicine 73: 133-144, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8190036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8190036</a>]" pmid="8190036">Drenth et al. (1994)</a> included the family of <a href="#5" class="mim-tip-reference" title="Driesen, O., Voute, P. A., Jr., Vermeulen, A. <strong>A description of two brothers with permanently raised non-esterified aetiocholanolone blood level.</strong> Acta Endocr. 57: 177-186, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4229818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4229818</a>] [<a href="https://doi.org/10.1530/acta.0.0570177" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4229818">Driesen et al. (1968)</a> in a series of cases of the hyper-IgD syndrome (<a href="/entry/260920">260920</a>). They stated that measurements on subsequent occasions in both brothers showed normal values of etiocholanolone. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8190036+4229818" 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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Aganna, E., Aksentijevich, I., Hitman, G. A., Kastner, D. L., Hoepelman, A. I. M., Posma, F. D., Zweers, E. J. K., McDermott, M. F.
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<strong>Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance.</strong>
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Europ. J. Hum. Genet. 9: 63-66, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11175303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11175303</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11175303" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200573" target="_blank">Full Text</a>]
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Bouroncle, B. A., Doan, C. A.
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<strong>'Periodic fever': occurrence in five generations.</strong>
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Am. J. Med. 23: 502-506, 1957.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13458215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13458215</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13458215" 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(57)90330-3" target="_blank">Full Text</a>]
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Drenth, J. P. H., Haagsma, C. J., van der Meer, J. W. M., the International Hyper-IgD Study Group.
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<strong>Hyperimmunoglobulinemia D and periodic fever syndrome: the clinical spectrum in a series of 50 patients.</strong>
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Medicine 73: 133-144, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8190036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8190036</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8190036" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Drenth, J. P. H., van der Meer, J. W. M.
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<strong>Hereditary periodic fever.</strong>
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New Eng. J. Med. 345: 1748-1757, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11742050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11742050</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11742050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJMra010200" target="_blank">Full Text</a>]
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Driesen, O., Voute, P. A., Jr., Vermeulen, A.
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<strong>A description of two brothers with permanently raised non-esterified aetiocholanolone blood level.</strong>
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Acta Endocr. 57: 177-186, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4229818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4229818</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4229818" 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/10.1530/acta.0.0570177" target="_blank">Full Text</a>]
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<strong>Autosomal dominant 'Mediterranean fever' in a Finnish family.</strong>
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J. Intern. Med. 232: 365-369, 1992. Note: Erratum: J. Intern. Med. 233: 101 only, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1402641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1402641</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1402641" 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.1365-2796.1992.tb00600.x" target="_blank">Full Text</a>]
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<a id="Kastner2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kastner, D. L.
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<strong>Personal Communication.</strong>
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Bethesda, Md. 1/27/2003.
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<a id="McDermott1999" class="mim-anchor"></a>
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McDermott, M. F., Aksentijevich, I., Galon, J., McDermott, E. M., Ogunkolade, B. W., Centola, M., Mansfield, E., Gadina, M., Karenko, L., Pettersson, T., McCarthy, J., Frucht, D. M., and 21 others.
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<strong>Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.</strong>
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Cell 97: 133-144, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10199409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10199409</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10199409" 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/s0092-8674(00)80721-7" target="_blank">Full Text</a>]
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<a id="McDermott1998" class="mim-anchor"></a>
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McDermott, M. F., Ogunkolade, B. W., McDermott, E. M., Jones, L. C., Wan, Y., Quane, K. A., McCarthy, J., Phelan, M., Molloy, M. G., Powell, R. J., Amos, C. I., Hitman, G. A.
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<strong>Linkage of familial Hibernian fever to chromosome 12p13.</strong>
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Am. J. Hum. Genet. 62: 1446-1451, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585614</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585614" 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/10.1086/301886" target="_blank">Full Text</a>]
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<a id="Mulley1997" class="mim-anchor"></a>
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Mulley, J., Saar, K., Hewitt, G., Ruschendorf, F., Phillips, H., Colley, A., Sillence, D., Reis, A., Wilson, M.
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<strong>Gene localisation for an autosomal dominant familial periodic fever. (Abstract)</strong>
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Am. J. Hum. Genet. 61 (suppl.): A287 only, 1997.
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<a id="Mulley1998" class="mim-anchor"></a>
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<p class="mim-text-font">
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Mulley, J., Saar, K., Hewitt, G., Ruschendorf, F., Phillips, H., Colley, A., Sillence, D., Reis, A., Wilson, M.
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<strong>Gene localization for an autosomal dominant familial periodic fever to 12p13.</strong>
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Am. J. Hum. Genet. 62: 884-889, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529351</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529351" 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/10.1086/301793" target="_blank">Full Text</a>]
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Quane, K. A., McDermott, M. F., McCarthy, J., Daly, M., Phelan, M., Davey, S. R., Sachs, J. A., Hitman, G. A., Shanahan, F., Molloy, M. G.
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<strong>Autosomal dominant periodic fever in two Irish pedigrees. (Abstract)</strong>
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Brit. J. Rheum. 36 (suppl. 1): 142 only, 1997.
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<a id="Toro2000" class="mim-anchor"></a>
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<p class="mim-text-font">
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Toro, J. R., Aksentijevich, I., Hull, K., Dean, J., Kastner, D.
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<strong>Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations.</strong>
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Arch. Derm. 136: 1487-1494, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11115159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11115159</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11115159" 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/10.1001/archderm.136.12.1487" target="_blank">Full Text</a>]
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<a id="Wang1999" class="mim-anchor"></a>
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Wang, J., Zheng, L., Lobito, A., Chan, F. K., Dale, J., Sneller, M., Yao, X., Puck, J. M., Straus, S. E., Lenardo, M. J.
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<strong>Inherited human caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.</strong>
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Cell 98: 47-58, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10412980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10412980</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10412980" 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/S0092-8674(00)80605-4" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Weyhreter2003" class="mim-anchor"></a>
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<div class="">
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Weyhreter, H., Schwartz, M., Kristensen, T. D., Valerius, N. H., Paerregaard, A.
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<strong>A new mutation causing autosomal dominant periodic fever syndrome in a Danish family.</strong>
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J. Pediat. 142: 191-193, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12584543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12584543</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12584543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1067/mpd.2003.15" target="_blank">Full Text</a>]
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<a id="Wildemann2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wildemann, B., Rudofsky, G., Jr., Kress, B., Jarius, S., Konig, F., Schwenger, V.
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<strong>The tumor necrosis factor-associated periodic syndrome, the brain, and tumor necrosis factor-A antagonists.</strong>
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Neurology 68: 1742-1744, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17360963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17360963</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17360963" 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/10.1212/01.wnl.0000260226.21010.2b" target="_blank">Full Text</a>]
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<a id="Williamson1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Williamson, L. M., Hull, D., Mehta, R., Reeves, W. G., Robinson, B. H. B., Toghill, P. J.
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<strong>Familial hibernian fever.</strong>
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Quart. J. Med. 51: 469-480, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7156325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7156325</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7156325" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="18" class="mim-anchor"></a>
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<a id="Zhu2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhu, S., Hsu, A. P., Vacek, M. M., Zheng, L., Schaffer, A. A., Dale, J. K., Davis, J., Fischer, R. E., Straus, S. E., Boruchov, D., Saulsbury, F. T., Lenardo, M. J., Puck, J. M.
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<strong>Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.</strong>
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Hum. Genet. 119: 284-294, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16446975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16446975</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16446975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-006-0138-9" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 1/7/2008
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/11/2006<br>Natalie E. Krasikov - updated : 3/2/2004<br>Victor A. McKusick - updated : 2/6/2003<br>Victor A. McKusick - updated : 1/9/2002<br>Michael B. Petersen - updated : 4/26/2001<br>Gary A. Bellus - updated : 3/26/2001<br>Victor A. McKusick - updated : 4/5/1999<br>Victor A. McKusick - updated : 6/23/1998<br>Victor A. McKusick - updated : 10/23/1997
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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alopez : 12/07/2023
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carol : 02/24/2020<br>carol : 02/21/2020<br>carol : 08/23/2017<br>carol : 08/16/2016<br>carol : 08/15/2016<br>carol : 05/18/2010<br>wwang : 1/31/2008<br>ckniffin : 1/7/2008<br>wwang : 5/23/2006<br>ckniffin : 5/11/2006<br>carol : 5/12/2005<br>carol : 3/2/2004<br>carol : 2/6/2003<br>carol : 1/24/2003<br>carol : 7/9/2002<br>mcapotos : 1/9/2002<br>carol : 4/26/2001<br>cwells : 4/3/2001<br>cwells : 3/26/2001<br>carol : 4/5/1999<br>carol : 4/5/1999<br>dholmes : 7/22/1998<br>carol : 7/9/1998<br>carol : 6/26/1998<br>terry : 6/23/1998<br>alopez : 5/19/1998<br>terry : 5/13/1998<br>terry : 5/13/1998<br>terry : 10/28/1997<br>alopez : 10/27/1997<br>alopez : 10/27/1997<br>terry : 10/23/1997<br>mimadm : 9/24/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988<br>reenie : 6/4/1986
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<span class="mim-font">
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<strong>#</strong> 142680
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<h3>
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PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT; FPF
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<em>Alternative titles; symbols</em>
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HIBERNIAN FEVER, FAMILIAL; FHF<br />
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FAMILIAL HIBERNIAN FEVER<br />
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TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PERIODIC SYNDROME; TRAPS<br />
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TNF RECEPTOR-ASSOCIATED PERIODIC SYNDROME
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<strong>SNOMEDCT:</strong> 403833009;
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<strong>ORPHA:</strong> 32960;
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<strong>DO:</strong> 0090018;
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</span>
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</p>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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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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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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12p13.31
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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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Periodic fever, familial
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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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142680
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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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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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TNFRSF1A
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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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191190
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant familial periodic fever (FPF) is caused by heterozygous mutation in the tumor necrosis factor receptor-1 gene (TNFRSF1A; 191190) on chromosome 12p13.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</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>Familial periodic fever (FPF) is an autoinflammatory disorder characterized by recurrent fever with localized myalgia and painful erythema. Febrile attacks may last 1 or 2 days but often last longer than 1 week. Arthralgia of large joints, abdominal pain, conjunctivitis, and periorbital edema are common features. During attacks, painless cutaneous lesions may develop on the trunk or extremities and may migrate distally (review by Drenth and van der Meer, 2001). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Williamson et al. (1982) described an Irish-Scottish family with an autosomal dominant 'periodic disease' characterized by recurrent attacks of fever, abdominal pain, localized tender skin lesions, and myalgia. Pleurisy, leukocytosis, and high erythrocyte sedimentation rate were other features. The disease pursued a benign course and no patient had developed amyloidosis. At least 13 persons in 5 sibships of 3 generations were affected, with 4 instances of male-to-male transmission. The disorder in this family was termed 'familial Hibernian fever.' </p><p>Bouroncle and Doan (1957) described 12 cases of periodic fever in 6 sibships in 5 generations of a family. No abnormality was detected by clinical examinations during and between attacks or by many laboratory studies. </p><p>Wang et al. (1999) reported a 10-year-old Ashkenazi Jewish boy who developed lymphadenopathy at age 11 months, followed by bouts of prolonged fever, splenomegaly, elevated sedimentation rate, anemia, and reticulocytosis. At age 3 years, he had noninfectious lymphocytic meningitis followed by optic neuritis, indicating a pattern of disparate inflammatory conditions. At the time of report, he exhibited adenopathy and splenomegaly. Autoantibodies were not detected, but lymphocyte phenotyping showed a dramatic T and B lymphocytosis and increased CD4-, CD8- T cells, especially a striking increase in CD4-, CD8- gamma/delta T cells. Both parents were clinically normal. Although the boy was originally diagnosed with autoimmune lymphoproliferative syndrome type IIA (ALPS2A; 603909), he was later found to have a pathogenic mutation in the TNFRSF1A gene, consistent with a diagnosis of TRAPS (Zhu et al., 2006). </p><p>Toro et al. (2000) described the cutaneous features of 25 patients with clinically and molecularly diagnosed FPF, which they referred to as 'tumor necrosis factor receptor-associated periodic syndrome' (TRAPS). Twenty-one patients (84%) had cutaneous manifestations. Migratory macules and patches were the most common findings. In addition, 10 patients (40%) exhibited erythematous edematous plaques. Lesions usually occurred during febrile episodes, were most commonly seen on the extremities, were often associated with myalgia, and lasted 4 to 21 days. Biopsies of lesional skin were obtained from 10 patients. The histologic findings were nonspecific, consisting of infiltrating T lymphocytes and monocytes, and could not be distinguished from a viral exanthem or serum sickness-like reaction. </p><p>Wildemann et al. (2007) reported a man with periodic fever syndrome who developed central nervous system involvement. Since childhood, he had experienced recurrent attacks of fever, myalgias, arthralgias, and painful migratory rashes. At age 38, he developed brainstem and cerebellar symptoms from a T-cell predominant inflammatory infiltrate without evidence of demyelination. Treatment with a TNF-alpha antagonist resulted in marked clinical improvement with mild residual symptoms. Genetic analysis identified a heterozygous mutation in the TNFRSF1A gene (C55A; 191190.0012). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of FPF in the families reported by McDermott et al. (1999) was consistent with autosomal dominant inheritance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Weyhreter et al. (2003) reported a Danish family with TRAPS in which the youngest affected member was treated successfully with etanercept (a fusion protein of the extracellular domain of TNFRSF1A and the Fc portion of IgG1) at age 18 months following lack of response to infliximab or of a sustained response to prednisolone. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</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>Mulley et al. (1997, 1998) found frequent recombination of FPF with the marker D16S2622 located within 1 Mb of familial Mediterranean fever at 16p13.3, thus excluding allelism between these clinically similar conditions. By a genomewide search, they detected linkage to a cluster of markers at 12p13, with a multipoint lod score of 6.14 at D12S356. Assuming penetrance of 90%, they assigned the relevant gene (symbolized FPF by them) to a 19-cM interval between D12S314 and D12S364. </p><p>McDermott et al. (1998) confirmed the assignment of familial Hibernian fever to 12p13 by studies in the originally reported Irish-Scottish family (6:Williamson et al., 1982) and in 2 Irish families with similar clinical features (Quane et al., 1997). Cumulative multipoint linkage analyses indicated that the gene, which they symbolized FHF (in parallel with the FMF of familial Mediterranean fever), is likely to be located in an 8-cM interval between D12S77 and D12S356, with a maximum lod score of 3.79. The 2-point maximum lod score was 3.11 for D12S77. There was no evidence of genetic heterogeneity in these 3 families. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of families segregating periodic fever, McDermott et al. (1999) identified germline mutations in the TNFRSF1A gene (191190.0001-191190.0006), which had been identified as a candidate gene by linkage studies. The families studied included those reported by Mulley et al. (1998) and McDermott et al. (1998), a Finnish family reported by Karenko et al. (1992), and 3 small North American families of Irish/English/German, Irish, and French-Canadian ancestry. </p><p>Aganna et al. (2001) identified a mutation in the TNFRSF1A gene (191190.0007) in a 2-generation Dutch family with TRAPS. The mutation was present in the affected father and in all of his 4 children (the affected proposita, a mildly affected son, and 2 unaffected children) but was not found in 120 control chromosomes from unaffected Dutch individuals. Low soluble plasma levels of TNFRSF1A segregated with the mutation in all the children, including those who were unaffected. The authors suggested that low levels of soluble TNFRSF1A in combination with particular environmental insults may be necessary to produce the full-blown phenotype. They also raised the possibility that TNFRSF1A mutations may be present in mildly symptomatic or indeed asymptomatic persons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</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>According to Kastner (2003), the gene for 'Hibernian fever' came from the Scottish (mother's) side of the family; hence, it should be called Caledonian fever rather than Hibernian fever.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 2 brothers with periodic fever, Driesen et al. (1968) found that the nonesterified etiocholanolone level of the blood was raised not only during febrile attacks but also in fever-free periods. A sister had attacks of fever of unexplained origin accompanied by abdominal pain and rash but had no symptoms after menarche. Drenth et al. (1994) included the family of Driesen et al. (1968) in a series of cases of the hyper-IgD syndrome (260920). They stated that measurements on subsequent occasions in both brothers showed normal values of etiocholanolone. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Aganna, E., Aksentijevich, I., Hitman, G. A., Kastner, D. L., Hoepelman, A. I. M., Posma, F. D., Zweers, E. J. K., McDermott, M. F.
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<strong>Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance.</strong>
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Europ. J. Hum. Genet. 9: 63-66, 2001.
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[PubMed: 11175303]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200573]
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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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Bouroncle, B. A., Doan, C. A.
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<strong>'Periodic fever': occurrence in five generations.</strong>
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Am. J. Med. 23: 502-506, 1957.
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[PubMed: 13458215]
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[Full Text: https://doi.org/10.1016/0002-9343(57)90330-3]
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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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Drenth, J. P. H., Haagsma, C. J., van der Meer, J. W. M., the International Hyper-IgD Study Group.
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<strong>Hyperimmunoglobulinemia D and periodic fever syndrome: the clinical spectrum in a series of 50 patients.</strong>
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Medicine 73: 133-144, 1994.
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[PubMed: 8190036]
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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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Drenth, J. P. H., van der Meer, J. W. M.
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<strong>Hereditary periodic fever.</strong>
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New Eng. J. Med. 345: 1748-1757, 2001.
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[PubMed: 11742050]
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[Full Text: https://doi.org/10.1056/NEJMra010200]
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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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Driesen, O., Voute, P. A., Jr., Vermeulen, A.
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<strong>A description of two brothers with permanently raised non-esterified aetiocholanolone blood level.</strong>
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Acta Endocr. 57: 177-186, 1968.
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[PubMed: 4229818]
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[Full Text: https://doi.org/10.1530/acta.0.0570177]
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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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Karenko, L., Pettersson, T., Roberts, P.
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<strong>Autosomal dominant 'Mediterranean fever' in a Finnish family.</strong>
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J. Intern. Med. 232: 365-369, 1992. Note: Erratum: J. Intern. Med. 233: 101 only, 1993.
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[PubMed: 1402641]
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[Full Text: https://doi.org/10.1111/j.1365-2796.1992.tb00600.x]
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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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Kastner, D. L.
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<strong>Personal Communication.</strong>
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Bethesda, Md. 1/27/2003.
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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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McDermott, M. F., Aksentijevich, I., Galon, J., McDermott, E. M., Ogunkolade, B. W., Centola, M., Mansfield, E., Gadina, M., Karenko, L., Pettersson, T., McCarthy, J., Frucht, D. M., and 21 others.
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<strong>Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.</strong>
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Cell 97: 133-144, 1999.
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[PubMed: 10199409]
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[Full Text: https://doi.org/10.1016/s0092-8674(00)80721-7]
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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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McDermott, M. F., Ogunkolade, B. W., McDermott, E. M., Jones, L. C., Wan, Y., Quane, K. A., McCarthy, J., Phelan, M., Molloy, M. G., Powell, R. J., Amos, C. I., Hitman, G. A.
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<strong>Linkage of familial Hibernian fever to chromosome 12p13.</strong>
|
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Am. J. Hum. Genet. 62: 1446-1451, 1998.
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[PubMed: 9585614]
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[Full Text: https://doi.org/10.1086/301886]
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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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Mulley, J., Saar, K., Hewitt, G., Ruschendorf, F., Phillips, H., Colley, A., Sillence, D., Reis, A., Wilson, M.
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<strong>Gene localisation for an autosomal dominant familial periodic fever. (Abstract)</strong>
|
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Am. J. Hum. Genet. 61 (suppl.): A287 only, 1997.
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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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Mulley, J., Saar, K., Hewitt, G., Ruschendorf, F., Phillips, H., Colley, A., Sillence, D., Reis, A., Wilson, M.
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<strong>Gene localization for an autosomal dominant familial periodic fever to 12p13.</strong>
|
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Am. J. Hum. Genet. 62: 884-889, 1998.
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[PubMed: 9529351]
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[Full Text: https://doi.org/10.1086/301793]
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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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Quane, K. A., McDermott, M. F., McCarthy, J., Daly, M., Phelan, M., Davey, S. R., Sachs, J. A., Hitman, G. A., Shanahan, F., Molloy, M. G.
|
|
<strong>Autosomal dominant periodic fever in two Irish pedigrees. (Abstract)</strong>
|
|
Brit. J. Rheum. 36 (suppl. 1): 142 only, 1997.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Toro, J. R., Aksentijevich, I., Hull, K., Dean, J., Kastner, D.
|
|
<strong>Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations.</strong>
|
|
Arch. Derm. 136: 1487-1494, 2000.
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[PubMed: 11115159]
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[Full Text: https://doi.org/10.1001/archderm.136.12.1487]
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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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Wang, J., Zheng, L., Lobito, A., Chan, F. K., Dale, J., Sneller, M., Yao, X., Puck, J. M., Straus, S. E., Lenardo, M. J.
|
|
<strong>Inherited human caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.</strong>
|
|
Cell 98: 47-58, 1999.
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[PubMed: 10412980]
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[Full Text: https://doi.org/10.1016/S0092-8674(00)80605-4]
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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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Weyhreter, H., Schwartz, M., Kristensen, T. D., Valerius, N. H., Paerregaard, A.
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<strong>A new mutation causing autosomal dominant periodic fever syndrome in a Danish family.</strong>
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Wildemann, B., Rudofsky, G., Jr., Kress, B., Jarius, S., Konig, F., Schwenger, V.
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<strong>The tumor necrosis factor-associated periodic syndrome, the brain, and tumor necrosis factor-A antagonists.</strong>
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Williamson, L. M., Hull, D., Mehta, R., Reeves, W. G., Robinson, B. H. B., Toghill, P. J.
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<strong>Familial hibernian fever.</strong>
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Zhu, S., Hsu, A. P., Vacek, M. M., Zheng, L., Schaffer, A. A., Dale, J. K., Davis, J., Fischer, R. E., Straus, S. E., Boruchov, D., Saulsbury, F. T., Lenardo, M. J., Puck, J. M.
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<strong>Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.</strong>
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