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<meta name="keywords" content="C0343068, cold hypersensitivity, cold induced autoinflammatory syndrome, familial, cold urticaria, familial, cold-induced autoinflammatory syndrome, familial, disease or syndrome, familial cold autoinflammatory syndrome, familial cold induced autoinflammatory syndrome, familial cold urticaria, familial cold urticarias, familial cold-induced autoinflammatory syndrome, familial polymorphous cold eruption, fcas, fcas - familial cold autoinflammatory syndrome, fcu, fcu - familial cold urticaria, urticaria, familial cold, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Familial cold autoinflammatory syndrome is characterized clinically by recurrent attacks of a maculopapular rash associated with arthralgias, myalgias, fever and chills, and swelling of the extremities after exposure to cold. Despite the first description of 'cold urticaria' (Kile and Rusk, 1940) the rash in most patients is nonpruritic and nonurticarial. Rarely, some patients may also develop late-onset renal amyloidosis (Hoffman et al., 2000).&#13; Overlapping syndromes also caused by mutation in the NLRP3 gene include Muckle-Wells syndrome (CAPS2; 191900), which has a high frequency of amyloidosis and late-onset sensorineural deafness, and chronic neurologic cutaneous and articular syndrome (CINCA, CAPS3; 607115), which shows earlier onset and a more severe phenotype.&#13; Genetic Heterogeneity of Familial Cold Autoinflammatory Syndrome&#13; See also FCAS2 (611762), caused by mutation in the NLRP12 gene (609648) on chromosome 19q13; FCAS3 (614468), caused by mutation in the PLCG2 gene (600220) on chromosome 16q23; and FCAS4 (616115), caused by mutation in the NLRC4 gene (606831) on chromosome 2p22." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Familial cold autoinflammatory syndrome (Concept Id: C0343068)
- MedGen - NCBI</title>
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<!--
UID=137986
ConceptID=C0343068
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Familial cold autoinflammatory syndrome<span class="h1sub">(FCAS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137986</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C0343068</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>COLD-INDUCED AUTOINFLAMMATORY SYNDROME, FAMILIAL; Familial cold urticaria; Familial polymorphous cold eruption; FCAS</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Familial cold urticaria (238687000); Familial cold autoinflammatory syndrome (238687000); FCU - familial cold urticaria (238687000); FCAS - familial cold autoinflammatory syndrome (238687000)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
Gene(s) associated with related conditions. For conditions<br />
in a hierarchy, the parent condition will list the genes<br />
associated with the children conditions.</div></td>
<td><a target="_blank" href="/gene/114548">NLRP3</a>, <a target="_blank" href="/gene/91662">NLRP12</a>, <a target="_blank" href="/gene/58484">NLRC4</a>, <a target="_blank" href="/gene/5336">PLCG2</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0018768" target="_blank">MONDO:0018768</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/120100" target="_blank">120100</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
<td><a href="https://omim.org/phenotypicSeries/PS120100" target="_blank">PS120100</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=47045">ORPHA47045</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Familial cold autoinflammatory syndrome is characterized clinically by recurrent attacks of a maculopapular rash associated with arthralgias, myalgias, fever and chills, and swelling of the extremities after exposure to cold. Despite the first description of 'cold urticaria' (Kile and Rusk, 1940) the rash in most patients is nonpruritic and nonurticarial. Rarely, some patients may also develop late-onset renal amyloidosis (Hoffman et al., 2000).&#13; Overlapping syndromes also caused by mutation in the NLRP3 gene include Muckle-Wells syndrome (CAPS2; 191900), which has a high frequency of amyloidosis and late-onset sensorineural deafness, and chronic neurologic cutaneous and articular syndrome (CINCA, CAPS3; 607115), which shows earlier onset and a more severe phenotype.&#13; Genetic Heterogeneity of Familial Cold Autoinflammatory Syndrome&#13; See also FCAS2 (611762), caused by mutation in the NLRP12 gene (609648) on chromosome 19q13; FCAS3 (614468), caused by mutation in the PLCG2 gene (600220) on chromosome 16q23; and FCAS4 (616115), caused by mutation in the NLRC4 gene (606831) on chromosome 2p22. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0343068[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=137986">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=137986" target="_blank" href="/omim/120100">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=137986" ref="ncbi_uid=137986">V</a></span></span><span class="TLline">Familial cold autoinflammatory syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551895[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1647324">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1647324" target="_blank" href="/omim/120100">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1647324" ref="ncbi_uid=1647324">V</a></span></span><span class="TLline"><a href="/medgen/1647324" ref="tree=GTR&amp;ncbi_uid=1647324&amp;link_uid=1647324" title="View MedGen record for 'Familial cold autoinflammatory syndrome 1'">Familial cold autoinflammatory syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2673198[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=435869">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=435869" target="_blank" href="/omim/609648">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=435869" ref="ncbi_uid=435869">V</a></span></span><span class="TLline"><a href="/medgen/435869" ref="tree=GTR&amp;ncbi_uid=435869&amp;link_uid=435869" title="View MedGen record for 'Familial cold autoinflammatory syndrome 2'">Familial cold autoinflammatory syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280914[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=482544">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=482544" target="_blank" href="/omim/600220">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=482544" ref="ncbi_uid=482544">V</a></span></span><span class="TLline"><a href="/medgen/482544" ref="tree=GTR&amp;ncbi_uid=482544&amp;link_uid=482544" title="View MedGen record for 'Familial cold autoinflammatory syndrome 3'">Familial cold autoinflammatory syndrome 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4015276[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=863713">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863713" target="_blank" href="/omim/606831">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=863713" ref="ncbi_uid=863713">V</a></span></span><span class="TLline"><a href="/medgen/863713" ref="tree=GTR&amp;ncbi_uid=863713&amp;link_uid=863713" title="View MedGen record for 'Familial cold autoinflammatory syndrome 4'">Familial cold autoinflammatory syndrome 4</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/11688" ref="tree=MeSH" title="MedGen record for Syndromic disease">Syndromic disease</a></span><ul><li><span class="TLline"><a href="/medgen/855741" ref="tree=MeSH" title="MedGen record for Autoinflammatory syndrome">Autoinflammatory syndrome</a></span><ul><li><span class="matched_ds">Familial cold autoinflammatory syndrome</span><ul><li><span class="TLline"><a href="/medgen/1647324" ref="tree=MeSH" title="MedGen record for Familial cold autoinflammatory syndrome 1">Familial cold autoinflammatory syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/435869" ref="tree=MeSH" title="MedGen record for Familial cold autoinflammatory syndrome 2">Familial cold autoinflammatory syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/482544" ref="tree=MeSH" title="MedGen record for Familial cold autoinflammatory syndrome 3">Familial cold autoinflammatory syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/863713" ref="tree=MeSH" title="MedGen record for Familial cold autoinflammatory syndrome 4">Familial cold autoinflammatory syndrome 4</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=10608&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Familial cold autoinflammatory syndrome</span> in Orphanet.</div></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/37290539">Cold Urticaria Syndromes: Diagnosis and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Diaz VL,
Gribbons KB,
Yazdi-Nejad K,
Kuemmerle-Deschner J,
Wanderer AA,
Broderick L,
Hoffman HM</span><br />
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
2023 Aug;11(8):2275-2285.
Epub 2023 Jun 7
doi: 10.1016/j.jaip.2023.05.040.
<span class="bold">PMID: </span><a href="/pubmed/37290539" target="_blank">37290539</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26312542">Current treatment recommendations and considerations for cryopyrin-associated periodic syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koné-Paut I,
Galeotti C</span><br />
<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
2015;11(10):1083-92.
Epub 2015 Aug 27
doi: 10.1586/1744666X.2015.1077702.
<span class="bold">PMID: </span><a href="/pubmed/26312542" target="_blank">26312542</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25963520">CAPS--pathogenesis, presentation and treatment of an autoinflammatory disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kuemmerle-Deschner JB</span><br />
<span class="medgenPMjournal">Semin Immunopathol</span>
2015 Jul;37(4):377-85.
Epub 2015 May 12
doi: 10.1007/s00281-015-0491-7.
<span class="bold">PMID: </span><a href="/pubmed/25963520" target="_blank">25963520</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22familial%20cold%20autoinflammatory%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (11)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/38268504">Clinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Miyamoto T,
Izawa K,
Masui S,
Yamazaki A,
Yamasaki Y,
Matsubayashi T,
Shiraki M,
Ohnishi H,
Yasumura J,
Kawabe T,
Miyamae T,
Matsubara T,
Arakawa N,
Ishige T,
Takizawa T,
Shimbo A,
Shimizu M,
Kimura N,
Maeda Y,
Maruyama Y,
Shigemura T,
Furuta J,
Sato S,
Tanaka H,
Izumikawa M,
Yamamura M,
Hasegawa T,
Kaneko H,
Nakagishi Y,
Nakano N,
Iida Y,
Nakamura T,
Wakiguchi H,
Hoshina T,
Kawai T,
Murakami K,
Akizuki S,
Morinobu A,
Ohmura K,
Eguchi K,
Sonoda M,
Ishimura M,
Furuno K,
Kashiwado M,
Mori M,
Kawahata K,
Hayama K,
Shimoyama K,
Sasaki N,
Ito T,
Umebayashi H,
Omori T,
Nakamichi S,
Dohmoto T,
Hasegawa Y,
Kawashima H,
Watanabe S,
Taguchi Y,
Nakaseko H,
Iwata N,
Kohno H,
Ando T,
Ito Y,
Kataoka Y,
Saeki T,
Kaneko U,
Murase A,
Hattori S,
Nozawa T,
Nishimura K,
Nakano R,
Watanabe M,
Yashiro M,
Nakamura T,
Komai T,
Kato K,
Honda Y,
Hiejima E,
Yonezawa A,
Bessho K,
Okada S,
Ohara O,
Takita J,
Yasumi T,
Nishikomori R;
Japan CAPS Working Group</span><br />
<span class="medgenPMjournal">Arthritis Rheumatol</span>
2024 Jun;76(6):949-962.
Epub 2024 Mar 7
doi: 10.1002/art.42808.
<span class="bold">PMID: </span><a href="/pubmed/38268504" target="_blank">38268504</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35852776">Rare mutations in NLRP3 and NLRP12 associated with familial cold autoinflammatory syndrome: two Chinese pedigrees.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen S,
Li Z,
Hu X,
Zhang H,
Chen W,
Xu Q,
Tang L,
Ge H,
Zhen Q,
Yong L,
Yu Y,
Cao L,
Zhang R,
Hao Y,
Shi J,
Sun L</span><br />
<span class="medgenPMjournal">Clin Rheumatol</span>
2022 Nov;41(11):3461-3470.
Epub 2022 Jul 19
doi: 10.1007/s10067-022-06292-y.
<span class="bold">PMID: </span><a href="/pubmed/35852776" target="_blank">35852776</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35123508">NLRP12-associated systemic autoinflammatory diseases in children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang HF</span><br />
<span class="medgenPMjournal">Pediatr Rheumatol Online J</span>
2022 Feb 5;20(1):9.
doi: 10.1186/s12969-022-00669-8.
<span class="bold">PMID: </span><a href="/pubmed/35123508" target="_blank">35123508</a><a href="/pmc/articles/PMC8817530" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25586657">Urticarial vasculitis and urticarial autoinflammatory syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Marzano AV,
Tavecchio S,
Venturini M,
Sala R,
Calzavara-Pinton P,
Gattorno M</span><br />
<span class="medgenPMjournal">G Ital Dermatol Venereol</span>
2015 Feb;150(1):41-50.
Epub 2015 Jan 14
<span class="bold">PMID: </span><a href="/pubmed/25586657" target="_blank">25586657</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22335455">Cryopyrin-associated periodic syndromes: diagnosis and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Miyamae T</span><br />
<span class="medgenPMjournal">Paediatr Drugs</span>
2012 Apr 1;14(2):109-17.
doi: 10.2165/11595040-000000000-00000.
<span class="bold">PMID: </span><a href="/pubmed/22335455" target="_blank">22335455</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20cold%20autoinflammatory%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (33)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37290539">Cold Urticaria Syndromes: Diagnosis and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Diaz VL,
Gribbons KB,
Yazdi-Nejad K,
Kuemmerle-Deschner J,
Wanderer AA,
Broderick L,
Hoffman HM</span><br />
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
2023 Aug;11(8):2275-2285.
Epub 2023 Jun 7
doi: 10.1016/j.jaip.2023.05.040.
<span class="bold">PMID: </span><a href="/pubmed/37290539" target="_blank">37290539</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35123508">NLRP12-associated systemic autoinflammatory diseases in children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang HF</span><br />
<span class="medgenPMjournal">Pediatr Rheumatol Online J</span>
2022 Feb 5;20(1):9.
doi: 10.1186/s12969-022-00669-8.
<span class="bold">PMID: </span><a href="/pubmed/35123508" target="_blank">35123508</a><a href="/pmc/articles/PMC8817530" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33249577">Cold urticaria - What we know and what we do not know.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maltseva N,
Borzova E,
Fomina D,
Bizjak M,
Terhorst-Molawi D,
Košnik M,
Kulthanan K,
Meshkova R,
Thomsen SF,
Maurer M;
COLD-CE Steering Committee</span><br />
<span class="medgenPMjournal">Allergy</span>
2021 Apr;76(4):1077-1094.
Epub 2020 Dec 24
doi: 10.1111/all.14674.
<span class="bold">PMID: </span><a href="/pubmed/33249577" target="_blank">33249577</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29871797">Mimickers of Urticaria: Urticarial Vasculitis and Autoinflammatory Diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Davis MDP,
van der Hilst JCH</span><br />
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
2018 Jul-Aug;6(4):1162-1170.
Epub 2018 Jun 2
doi: 10.1016/j.jaip.2018.05.006.
<span class="bold">PMID: </span><a href="/pubmed/29871797" target="_blank">29871797</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27974218">An NLRP3 Mutation Causes Arthropathy and Osteoporosis in Humanized Mice.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Snouwaert JN,
Nguyen M,
Repenning PW,
Dye R,
Livingston EW,
Kovarova M,
Moy SS,
Brigman BE,
Bateman TA,
Ting JP,
Koller BH</span><br />
<span class="medgenPMjournal">Cell Rep</span>
2016 Dec 13;17(11):3077-3088.
doi: 10.1016/j.celrep.2016.11.052.
<span class="bold">PMID: </span><a href="/pubmed/27974218" target="_blank">27974218</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20cold%20autoinflammatory%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (50)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38268504">Clinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Miyamoto T,
Izawa K,
Masui S,
Yamazaki A,
Yamasaki Y,
Matsubayashi T,
Shiraki M,
Ohnishi H,
Yasumura J,
Kawabe T,
Miyamae T,
Matsubara T,
Arakawa N,
Ishige T,
Takizawa T,
Shimbo A,
Shimizu M,
Kimura N,
Maeda Y,
Maruyama Y,
Shigemura T,
Furuta J,
Sato S,
Tanaka H,
Izumikawa M,
Yamamura M,
Hasegawa T,
Kaneko H,
Nakagishi Y,
Nakano N,
Iida Y,
Nakamura T,
Wakiguchi H,
Hoshina T,
Kawai T,
Murakami K,
Akizuki S,
Morinobu A,
Ohmura K,
Eguchi K,
Sonoda M,
Ishimura M,
Furuno K,
Kashiwado M,
Mori M,
Kawahata K,
Hayama K,
Shimoyama K,
Sasaki N,
Ito T,
Umebayashi H,
Omori T,
Nakamichi S,
Dohmoto T,
Hasegawa Y,
Kawashima H,
Watanabe S,
Taguchi Y,
Nakaseko H,
Iwata N,
Kohno H,
Ando T,
Ito Y,
Kataoka Y,
Saeki T,
Kaneko U,
Murase A,
Hattori S,
Nozawa T,
Nishimura K,
Nakano R,
Watanabe M,
Yashiro M,
Nakamura T,
Komai T,
Kato K,
Honda Y,
Hiejima E,
Yonezawa A,
Bessho K,
Okada S,
Ohara O,
Takita J,
Yasumi T,
Nishikomori R;
Japan CAPS Working Group</span><br />
<span class="medgenPMjournal">Arthritis Rheumatol</span>
2024 Jun;76(6):949-962.
Epub 2024 Mar 7
doi: 10.1002/art.42808.
<span class="bold">PMID: </span><a href="/pubmed/38268504" target="_blank">38268504</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33249577">Cold urticaria - What we know and what we do not know.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maltseva N,
Borzova E,
Fomina D,
Bizjak M,
Terhorst-Molawi D,
Košnik M,
Kulthanan K,
Meshkova R,
Thomsen SF,
Maurer M;
COLD-CE Steering Committee</span><br />
<span class="medgenPMjournal">Allergy</span>
2021 Apr;76(4):1077-1094.
Epub 2020 Dec 24
doi: 10.1111/all.14674.
<span class="bold">PMID: </span><a href="/pubmed/33249577" target="_blank">33249577</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28586272">Pharmacological treatment options for cryopyrin-associated periodic syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Landmann EC,
Walker UA</span><br />
<span class="medgenPMjournal">Expert Rev Clin Pharmacol</span>
2017 Aug;10(8):855-864.
Epub 2017 Jun 20
doi: 10.1080/17512433.2017.1338946.
<span class="bold">PMID: </span><a href="/pubmed/28586272" target="_blank">28586272</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26312542">Current treatment recommendations and considerations for cryopyrin-associated periodic syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koné-Paut I,
Galeotti C</span><br />
<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
2015;11(10):1083-92.
Epub 2015 Aug 27
doi: 10.1586/1744666X.2015.1077702.
<span class="bold">PMID: </span><a href="/pubmed/26312542" target="_blank">26312542</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22335455">Cryopyrin-associated periodic syndromes: diagnosis and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Miyamae T</span><br />
<span class="medgenPMjournal">Paediatr Drugs</span>
2012 Apr 1;14(2):109-17.
doi: 10.2165/11595040-000000000-00000.
<span class="bold">PMID: </span><a href="/pubmed/22335455" target="_blank">22335455</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20cold%20autoinflammatory%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (39)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38268504">Clinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Miyamoto T,
Izawa K,
Masui S,
Yamazaki A,
Yamasaki Y,
Matsubayashi T,
Shiraki M,
Ohnishi H,
Yasumura J,
Kawabe T,
Miyamae T,
Matsubara T,
Arakawa N,
Ishige T,
Takizawa T,
Shimbo A,
Shimizu M,
Kimura N,
Maeda Y,
Maruyama Y,
Shigemura T,
Furuta J,
Sato S,
Tanaka H,
Izumikawa M,
Yamamura M,
Hasegawa T,
Kaneko H,
Nakagishi Y,
Nakano N,
Iida Y,
Nakamura T,
Wakiguchi H,
Hoshina T,
Kawai T,
Murakami K,
Akizuki S,
Morinobu A,
Ohmura K,
Eguchi K,
Sonoda M,
Ishimura M,
Furuno K,
Kashiwado M,
Mori M,
Kawahata K,
Hayama K,
Shimoyama K,
Sasaki N,
Ito T,
Umebayashi H,
Omori T,
Nakamichi S,
Dohmoto T,
Hasegawa Y,
Kawashima H,
Watanabe S,
Taguchi Y,
Nakaseko H,
Iwata N,
Kohno H,
Ando T,
Ito Y,
Kataoka Y,
Saeki T,
Kaneko U,
Murase A,
Hattori S,
Nozawa T,
Nishimura K,
Nakano R,
Watanabe M,
Yashiro M,
Nakamura T,
Komai T,
Kato K,
Honda Y,
Hiejima E,
Yonezawa A,
Bessho K,
Okada S,
Ohara O,
Takita J,
Yasumi T,
Nishikomori R;
Japan CAPS Working Group</span><br />
<span class="medgenPMjournal">Arthritis Rheumatol</span>
2024 Jun;76(6):949-962.
Epub 2024 Mar 7
doi: 10.1002/art.42808.
<span class="bold">PMID: </span><a href="/pubmed/38268504" target="_blank">38268504</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29500522">Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kostik MM,
Suspitsin EN,
Guseva MN,
Levina AS,
Kazantseva AY,
Sokolenko AP,
Imyanitov EN</span><br />
<span class="medgenPMjournal">Rheumatol Int</span>
2018 May;38(5):887-893.
Epub 2018 Mar 2
doi: 10.1007/s00296-018-4002-8.
<span class="bold">PMID: </span><a href="/pubmed/29500522" target="_blank">29500522</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25963520">CAPS--pathogenesis, presentation and treatment of an autoinflammatory disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kuemmerle-Deschner JB</span><br />
<span class="medgenPMjournal">Semin Immunopathol</span>
2015 Jul;37(4):377-85.
Epub 2015 May 12
doi: 10.1007/s00281-015-0491-7.
<span class="bold">PMID: </span><a href="/pubmed/25963520" target="_blank">25963520</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22335455">Cryopyrin-associated periodic syndromes: diagnosis and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Miyamae T</span><br />
<span class="medgenPMjournal">Paediatr Drugs</span>
2012 Apr 1;14(2):109-17.
doi: 10.2165/11595040-000000000-00000.
<span class="bold">PMID: </span><a href="/pubmed/22335455" target="_blank">22335455</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20938587">Pediatric hereditary autoinflammatory syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jesus AA,
Oliveira JB,
Hilário MO,
Terreri MT,
Fujihira E,
Watase M,
Carneiro-Sampaio M,
Silva CA</span><br />
<span class="medgenPMjournal">J Pediatr (Rio J)</span>
2010 Sep-Oct;86(5):353-66.
doi: 10.2223/JPED.2015.
<span class="bold">PMID: </span><a href="/pubmed/20938587" target="_blank">20938587</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20cold%20autoinflammatory%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/36912350">Socio-professional impact and quality of life of cryopyrin-associated periodic syndromes in 54 patients in adulthood.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vasse M,
Reumaux H,
Koné-Paut I,
Quartier P,
Hachulla E</span><br />
<span class="medgenPMjournal">Clin Exp Rheumatol</span>
2023 Oct;41(10):2039-2043.
Epub 2023 Mar 9
doi: 10.55563/clinexprheumatol/bfyb6o.
<span class="bold">PMID: </span><a href="/pubmed/36912350" target="_blank">36912350</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28586272">Pharmacological treatment options for cryopyrin-associated periodic syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Landmann EC,
Walker UA</span><br />
<span class="medgenPMjournal">Expert Rev Clin Pharmacol</span>
2017 Aug;10(8):855-864.
Epub 2017 Jun 20
doi: 10.1080/17512433.2017.1338946.
<span class="bold">PMID: </span><a href="/pubmed/28586272" target="_blank">28586272</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26140469">Impact of IL-1 inhibition on fatigue associated with autoinflammatory syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yadlapati S,
Efthimiou P</span><br />
<span class="medgenPMjournal">Mod Rheumatol</span>
2016;26(1):3-8.
Epub 2015 Aug 3
doi: 10.3109/14397595.2015.1069459.
<span class="bold">PMID: </span><a href="/pubmed/26140469" target="_blank">26140469</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17320940">Monocytes from familial cold autoinflammatory syndrome patients are activated by mild hypothermia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rosengren S,
Mueller JL,
Anderson JP,
Niehaus BL,
Misaghi A,
Anderson S,
Boyle DL,
Hoffman HM</span><br />
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
2007 Apr;119(4):991-6.
Epub 2007 Feb 22
doi: 10.1016/j.jaci.2006.12.649.
<span class="bold">PMID: </span><a href="/pubmed/17320940" target="_blank">17320940</a><a href="/pmc/articles/PMC4322003" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15720239">Molecular and genetic characteristics of hereditary autoinflammatory diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tunca M,
Ozdogan H</span><br />
<span class="medgenPMjournal">Curr Drug Targets Inflamm Allergy</span>
2005 Feb;4(1):77-80.
doi: 10.2174/1568010053622957.
<span class="bold">PMID: </span><a href="/pubmed/15720239" target="_blank">15720239</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20cold%20autoinflammatory%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/35262642">AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rodrigues F,
Cuisset L,
Cador-Rousseau B,
Giurgea I,
Neven B,
Buob D,
Quartier P,
Hachulla E,
Lequerré T,
Cam G,
Boursier G,
Hervieu V,
Grateau G,
Georgin-Lavialle S</span><br />
<span class="medgenPMjournal">Rheumatology (Oxford)</span>
2022 Nov 28;61(12):4827-4834.
doi: 10.1093/rheumatology/keac145.
<span class="bold">PMID: </span><a href="/pubmed/35262642" target="_blank">35262642</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20cold%20autoinflammatory%20syndrome%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0343068%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (13)</a></li>
<li><a href="/gtr/tests?term=C0343068%5bDISCUI%5d&amp;filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
<li><a href="/gtr/tests?term=C0343068%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (18)</a></li>
<li><a href="/gtr/tests?term=C0343068%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0343068%5bDISCUI%5d" target="_blank">See all (19)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22familial%20cold%20autoinflammatory%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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