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<meta name="keywords" content="C4759670, deficiency of il-36r antagonist, deficiency of il-36ra, deficiency of il-36ra (interleukin 36 receptor antagonist), deficiency of interleukin 36 receptor antagonist, deficiency of the interleukin-36 receptor antagonist, disease or syndrome, ditra, ditra - deficiency of interleukin 36 receptor antagonist, generalized pustular psoriasis, gpp, interleukin 36 receptor antagonist deficiency, palmoplantar pustulosis, psoriasis 14, pustular, psorp, psors14, 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="A rare genetic autoinflammatory syndrome with immune deficiency disease characterized by recurrent and severe flares of generalized pustular psoriasis associated with high fever, asthenia and systemic inflammation due to IL36R antagonist deficiency. Psoriatic nail changes (for example pitting and onychomadesis) and ichthyosis may occasionally be associated." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1676574
|
||
ConceptID=C4759670
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Deficiency of the interleukin-36 receptor antagonist<span class="h1sub">(DITRA; PSORS14; GPP)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1676574</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) Click for more information."><span class="highlight" style="background-color:">C4759670</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>DITRA; GENERALIZED PUSTULAR PSORIASIS; GPP; INTERLEUKIN 36 RECEPTOR ANTAGONIST DEFICIENCY; PALMOPLANTAR PUSTULOSIS; PSORIASIS 14, PUSTULAR; PSORP; PSORS14</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>DITRA - deficiency of interleukin 36 receptor antagonist (784339002); Deficiency of IL-36R antagonist (784339002); Deficiency of interleukin 36 receptor antagonist (784339002); Deficiency of IL-36Ra (interleukin 36 receptor antagonist) (784339002)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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) Click for more information.">C0441748</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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/605507" target="_blank">605507</a>; <a href="https://omim.org/entry/614204" target="_blank">614204</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&Expert=404546">ORPHA404546</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">A rare genetic autoinflammatory syndrome with immune deficiency disease characterized by recurrent and severe flares of generalized pustular psoriasis associated with high fever, asthenia and systemic inflammation due to IL36R antagonist deficiency. Psoriatic nail changes (for example pitting and onychomadesis) and ichthyosis may occasionally be associated. [from <a title="US Edition of SNOMED CT" href="http://www.nlm.nih.gov/research/umls/Snomed/us_edition.html" class="defSource" target="_blank">SNOMEDCT_US</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></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 unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1676574" target="_blank" href="/omim/605507">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&from_uid=1676574" ref="ncbi_uid=1676574">V</a></span></span><span class="TLline">Deficiency of the interleukin-36 receptor antagonist</span></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">Deficiency of the interleukin-36 receptor antagonist</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></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/31286990">Scoping review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hospach T,
|
||
Glowatzki F,
|
||
Blankenburg F,
|
||
Conzelmann D,
|
||
Stirnkorb C,
|
||
Müllerschön CS,
|
||
von den Driesch P,
|
||
Köhler LM,
|
||
Rohlfs M,
|
||
Klein C,
|
||
Hauck F</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rheumatol Online J</span>
|
||
2019 Jul 8;17(1):37.
|
||
doi: 10.1186/s12969-019-0338-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31286990" target="_blank">31286990</a><a href="/pmc/articles/PMC6615208" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24910924">Successful treatment with infliximab of sibling cases with generalized pustular psoriasis caused by deficiency of interleukin-36 receptor antagonist.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sugiura K,
|
||
Endo K,
|
||
Akasaka T,
|
||
Akiyama M</span><br />
|
||
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
|
||
2015 Oct;29(10):2054-6.
|
||
Epub 2014 Jun 9
|
||
doi: 10.1111/jdv.12590.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24910924" target="_blank">24910924</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(deficiency%20of%20the%20interleukin-36%20receptor%20antagonist)%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 (2)</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/38247394">Clinical advances in biological therapy for generalized pustular psoriasis: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hsieh CY,
|
||
Tsai TF</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Biol Ther</span>
|
||
2024 Jan-Feb;24(1-2):37-50.
|
||
Epub 2024 Feb 4
|
||
doi: 10.1080/14712598.2024.2309301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38247394" target="_blank">38247394</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32301172">Novel use of Autoinflammatory Diseases Activity Index (AIDAI) captures skin and extracutaneous features to help manage pediatric DITRA: A case report and a proposal for a modified disease activity index in autoinflammatory keratinization disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stephenson C,
|
||
Prajapati VH,
|
||
Hunter C,
|
||
Miettunen P</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2020 Jul;37(4):670-676.
|
||
Epub 2020 Apr 17
|
||
doi: 10.1111/pde.14155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32301172" target="_blank">32301172</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23711932">Monogenic autoinflammatory diseases: concept and clinical manifestations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Almeida de Jesus A,
|
||
Goldbach-Mansky R</span><br />
|
||
<span class="medgenPMjournal">Clin Immunol</span>
|
||
2013 Jun;147(3):155-74.
|
||
Epub 2013 Apr 9
|
||
doi: 10.1016/j.clim.2013.03.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23711932" target="_blank">23711932</a><a href="/pmc/articles/PMC3769788" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23698098">The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sugiura K,
|
||
Takemoto A,
|
||
Yamaguchi M,
|
||
Takahashi H,
|
||
Shoda Y,
|
||
Mitsuma T,
|
||
Tsuda K,
|
||
Nishida E,
|
||
Togawa Y,
|
||
Nakajima K,
|
||
Sakakibara A,
|
||
Kawachi S,
|
||
Shimizu M,
|
||
Ito Y,
|
||
Takeichi T,
|
||
Kono M,
|
||
Ogawa Y,
|
||
Muro Y,
|
||
Ishida-Yamamoto A,
|
||
Sano S,
|
||
Matsue H,
|
||
Morita A,
|
||
Mizutani H,
|
||
Iizuka H,
|
||
Muto M,
|
||
Akiyama M</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
2013 Nov;133(11):2514-2521.
|
||
Epub 2013 May 22
|
||
doi: 10.1038/jid.2013.230.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23698098" target="_blank">23698098</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%20the%20interleukin-36%20receptor%20antagonist%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37726967">Cutaneous findings and treatments in deficiency of interleukin-36 receptor antagonist (DITRA): A review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okorie CL,
|
||
Nayudu K,
|
||
Nambudiri VE</span><br />
|
||
<span class="medgenPMjournal">Exp Dermatol</span>
|
||
2024 Jan;33(1):e14934.
|
||
Epub 2023 Sep 19
|
||
doi: 10.1111/exd.14934.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37726967" target="_blank">37726967</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30968643">A novel mutation of interleukin-1 receptor antagonist (IL1RN) in a DIRA patient from Turkey: Diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sözeri B,
|
||
Gerçeker-Türk B,
|
||
Yıldız-Atıkan B,
|
||
Mir S,
|
||
Berdeli A</span><br />
|
||
<span class="medgenPMjournal">Turk J Pediatr</span>
|
||
2018;60(5):588-592.
|
||
doi: 10.24953/turkjped.2018.05.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30968643" target="_blank">30968643</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28241175">Secukinumab for the Treatment of Deficiency of Interleukin 36 Receptor Antagonist in an Adolescent.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Molho-Pessach V,
|
||
Alyan R,
|
||
Gordon D,
|
||
Jaradat H,
|
||
Zlotogorski A</span><br />
|
||
<span class="medgenPMjournal">JAMA Dermatol</span>
|
||
2017 May 1;153(5):473-475.
|
||
doi: 10.1001/jamadermatol.2016.5705.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28241175" target="_blank">28241175</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23827250">Autoinflammatory diseases in pediatrics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hausmann JS,
|
||
Dedeoglu F</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2013 Jul;31(3):481-94.
|
||
Epub 2013 Jun 2
|
||
doi: 10.1016/j.det.2013.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23827250" target="_blank">23827250</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23827244">Autoinflammatory pustular neutrophilic diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naik HB,
|
||
Cowen EW</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2013 Jul;31(3):405-25.
|
||
Epub 2013 Jun 2
|
||
doi: 10.1016/j.det.2013.04.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23827244" target="_blank">23827244</a><a href="/pmc/articles/PMC3703099" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%20the%20interleukin-36%20receptor%20antagonist%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 (8)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38802208">Use of biologics in Chinese pregnant patients with deficiency of interleukin-36 receptor antagonist (DITRA): A case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hsieh CY,
|
||
Tsai YJ,
|
||
Tsai TF</span><br />
|
||
<span class="medgenPMjournal">Taiwan J Obstet Gynecol</span>
|
||
2024 May;63(3):405-408.
|
||
Epub 2024 Mar 5
|
||
doi: 10.1016/j.tjog.2024.02.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38802208" target="_blank">38802208</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38247394">Clinical advances in biological therapy for generalized pustular psoriasis: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hsieh CY,
|
||
Tsai TF</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Biol Ther</span>
|
||
2024 Jan-Feb;24(1-2):37-50.
|
||
Epub 2024 Feb 4
|
||
doi: 10.1080/14712598.2024.2309301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38247394" target="_blank">38247394</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31286990">Scoping review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hospach T,
|
||
Glowatzki F,
|
||
Blankenburg F,
|
||
Conzelmann D,
|
||
Stirnkorb C,
|
||
Müllerschön CS,
|
||
von den Driesch P,
|
||
Köhler LM,
|
||
Rohlfs M,
|
||
Klein C,
|
||
Hauck F</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rheumatol Online J</span>
|
||
2019 Jul 8;17(1):37.
|
||
doi: 10.1186/s12969-019-0338-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31286990" target="_blank">31286990</a><a href="/pmc/articles/PMC6615208" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28241175">Secukinumab for the Treatment of Deficiency of Interleukin 36 Receptor Antagonist in an Adolescent.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Molho-Pessach V,
|
||
Alyan R,
|
||
Gordon D,
|
||
Jaradat H,
|
||
Zlotogorski A</span><br />
|
||
<span class="medgenPMjournal">JAMA Dermatol</span>
|
||
2017 May 1;153(5):473-475.
|
||
doi: 10.1001/jamadermatol.2016.5705.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28241175" target="_blank">28241175</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23827250">Autoinflammatory diseases in pediatrics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hausmann JS,
|
||
Dedeoglu F</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2013 Jul;31(3):481-94.
|
||
Epub 2013 Jun 2
|
||
doi: 10.1016/j.det.2013.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23827250" target="_blank">23827250</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%20the%20interleukin-36%20receptor%20antagonist%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 (8)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38802208">Use of biologics in Chinese pregnant patients with deficiency of interleukin-36 receptor antagonist (DITRA): A case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hsieh CY,
|
||
Tsai YJ,
|
||
Tsai TF</span><br />
|
||
<span class="medgenPMjournal">Taiwan J Obstet Gynecol</span>
|
||
2024 May;63(3):405-408.
|
||
Epub 2024 Mar 5
|
||
doi: 10.1016/j.tjog.2024.02.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38802208" target="_blank">38802208</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38488485">Acquired diffuse palmoplantar erythema with keratoderma in Chinese patients with pustular psoriasis: A predictor for IL36 receptor antagonist c.115+6T>C mutation?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hsu FL,
|
||
Hsieh CY,
|
||
Tsai TF</span><br />
|
||
<span class="medgenPMjournal">Exp Dermatol</span>
|
||
2024 Mar;33(3):e15056.
|
||
doi: 10.1111/exd.15056.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38488485" target="_blank">38488485</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22336993">Rare hereditary autoinflammatory disorders: towards an understanding of critical in vivo inflammatory pathways.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanazawa N</span><br />
|
||
<span class="medgenPMjournal">J Dermatol Sci</span>
|
||
2012 Jun;66(3):183-9.
|
||
Epub 2012 Jan 18
|
||
doi: 10.1016/j.jdermsci.2012.01.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22336993" target="_blank">22336993</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21848462">Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marrakchi S,
|
||
Guigue P,
|
||
Renshaw BR,
|
||
Puel A,
|
||
Pei XY,
|
||
Fraitag S,
|
||
Zribi J,
|
||
Bal E,
|
||
Cluzeau C,
|
||
Chrabieh M,
|
||
Towne JE,
|
||
Douangpanya J,
|
||
Pons C,
|
||
Mansour S,
|
||
Serre V,
|
||
Makni H,
|
||
Mahfoudh N,
|
||
Fakhfakh F,
|
||
Bodemer C,
|
||
Feingold J,
|
||
Hadj-Rabia S,
|
||
Favre M,
|
||
Genin E,
|
||
Sahbatou M,
|
||
Munnich A,
|
||
Casanova JL,
|
||
Sims JE,
|
||
Turki H,
|
||
Bachelez H,
|
||
Smahi A</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2011 Aug 18;365(7):620-8.
|
||
doi: 10.1056/NEJMoa1013068.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21848462" target="_blank">21848462</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%20the%20interleukin-36%20receptor%20antagonist%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39265919">Autoantibody mediated deficiency of IL-36-receptor antagonist in a subset of patients with psoriasis and psoriatic arthritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoffmann MC,
|
||
Fadle N,
|
||
Regitz E,
|
||
Kos IA,
|
||
Cetin O,
|
||
Lesan V,
|
||
Preuss KD,
|
||
Zaks M,
|
||
Stöger E,
|
||
Zimmer V,
|
||
Klemm P,
|
||
Assmann G,
|
||
Pfeifer J,
|
||
Bittenbring JT,
|
||
Bewarder M,
|
||
Vogt T,
|
||
Pföhler C,
|
||
Thurner B,
|
||
Kessel C,
|
||
Thurner L</span><br />
|
||
<span class="medgenPMjournal">Immunol Lett</span>
|
||
2024 Dec;270:106926.
|
||
Epub 2024 Sep 10
|
||
doi: 10.1016/j.imlet.2024.106926.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39265919" target="_blank">39265919</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37805122">Staphylococcus aureus-derived virulent phenol-soluble modulin α triggers alarmin release to drive IL-36-dependent corneal inflammation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakajima I,
|
||
Fukuda K,
|
||
Ishida W,
|
||
Kishimoto T,
|
||
Kuwana A,
|
||
Suzuki T,
|
||
Kaito C,
|
||
Yamashiro K</span><br />
|
||
<span class="medgenPMjournal">Microbes Infect</span>
|
||
2024 Jan-Feb;26(1-2):105237.
|
||
Epub 2023 Oct 5
|
||
doi: 10.1016/j.micinf.2023.105237.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37805122" target="_blank">37805122</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31286990">Scoping review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hospach T,
|
||
Glowatzki F,
|
||
Blankenburg F,
|
||
Conzelmann D,
|
||
Stirnkorb C,
|
||
Müllerschön CS,
|
||
von den Driesch P,
|
||
Köhler LM,
|
||
Rohlfs M,
|
||
Klein C,
|
||
Hauck F</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rheumatol Online J</span>
|
||
2019 Jul 8;17(1):37.
|
||
doi: 10.1186/s12969-019-0338-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31286990" target="_blank">31286990</a><a href="/pmc/articles/PMC6615208" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22336993">Rare hereditary autoinflammatory disorders: towards an understanding of critical in vivo inflammatory pathways.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanazawa N</span><br />
|
||
<span class="medgenPMjournal">J Dermatol Sci</span>
|
||
2012 Jun;66(3):183-9.
|
||
Epub 2012 Jan 18
|
||
doi: 10.1016/j.jdermsci.2012.01.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22336993" target="_blank">22336993</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21848462">Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marrakchi S,
|
||
Guigue P,
|
||
Renshaw BR,
|
||
Puel A,
|
||
Pei XY,
|
||
Fraitag S,
|
||
Zribi J,
|
||
Bal E,
|
||
Cluzeau C,
|
||
Chrabieh M,
|
||
Towne JE,
|
||
Douangpanya J,
|
||
Pons C,
|
||
Mansour S,
|
||
Serre V,
|
||
Makni H,
|
||
Mahfoudh N,
|
||
Fakhfakh F,
|
||
Bodemer C,
|
||
Feingold J,
|
||
Hadj-Rabia S,
|
||
Favre M,
|
||
Genin E,
|
||
Sahbatou M,
|
||
Munnich A,
|
||
Casanova JL,
|
||
Sims JE,
|
||
Turki H,
|
||
Bachelez H,
|
||
Smahi A</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2011 Aug 18;365(7):620-8.
|
||
doi: 10.1056/NEJMoa1013068.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21848462" target="_blank">21848462</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%20the%20interleukin-36%20receptor%20antagonist%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 (6)</a></div></div>
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