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<meta name="keywords" content="C4749500, disease or syndrome, t-cell immunodeficiency due to ras homolog family member h deficiency, t-cell immunodeficiency due to rhoh (ras homolog family member h) deficiency, t-cell immunodeficiency due to rhoh deficiency, t-cell immunodeficiency with epidermodysplasia verruciformis, 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 primary immunodeficiency with characteristics of increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1648416
|
||
ConceptID=C4749500
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">T-cell immunodeficiency with epidermodysplasia verruciformis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648416</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:">C4749500</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>T-cell immunodeficiency due to ras homolog family member H deficiency; T-cell immunodeficiency due to RHOH (ras homolog family member H) deficiency; T-cell immunodeficiency due to RHOH deficiency</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>T-cell immunodeficiency due to RHOH (ras homolog family member H) deficiency (770785002); T-cell immunodeficiency with epidermodysplasia verruciformis (770785002); T-cell immunodeficiency due to RHOH deficiency (770785002); T-cell immunodeficiency due to ras homolog family member H deficiency (770785002)</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>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0017925" target="_blank">MONDO:0017925</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=324294">ORPHA324294</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>
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||
<div class="portlet mgSection" id="ID_100">
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||
<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 primary immunodeficiency with characteristics of increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype. [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="TLline">T-cell immunodeficiency with epidermodysplasia verruciformis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843269" ref="tree=MeSH" title="MedGen record for Other immunodeficiency syndromes due to defects in innate immunity">Other immunodeficiency syndromes due to defects in innate immunity</a></span><ul><li><span class="matched_ds">T-cell immunodeficiency with epidermodysplasia verruciformis</span></li></ul></li></ul></div></div></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/24612648">α- and β-papillomavirus infection in a young patient with an unclassified primary T-cell immunodeficiency and multiple mucosal and cutaneous lesions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Landini MM,
|
||
Borgogna C,
|
||
Peretti A,
|
||
Colombo E,
|
||
Zavattaro E,
|
||
Boldorini R,
|
||
Miglio U,
|
||
Doorbar J,
|
||
Ravanini P,
|
||
Kumar R,
|
||
Moratto D,
|
||
Badolato R,
|
||
De Andrea M,
|
||
Gariglio M</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2014 Jul;71(1):108-15.e1.
|
||
Epub 2014 Mar 4
|
||
doi: 10.1016/j.jaad.2014.01.859.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24612648" target="_blank">24612648</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9990378">Lifelong severe verrucosis associated with human papillomavirus type 2: report of a case with a 38-year follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Requena L,
|
||
Sarasa JL,
|
||
Terai M,
|
||
Sata T,
|
||
Matsukura T</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
1998 Dec;139(6):1081-6.
|
||
doi: 10.1046/j.1365-2133.1998.02571.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9990378" target="_blank">9990378</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22T-cell%20immunodeficiency%20with%20epidermodysplasia%20verruciformis%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 (2)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25073507">Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stray-Pedersen A,
|
||
Jouanguy E,
|
||
Crequer A,
|
||
Bertuch AA,
|
||
Brown BS,
|
||
Jhangiani SN,
|
||
Muzny DM,
|
||
Gambin T,
|
||
Sorte H,
|
||
Sasa G,
|
||
Metry D,
|
||
Campbell J,
|
||
Sockrider MM,
|
||
Dishop MK,
|
||
Scollard DM,
|
||
Gibbs RA,
|
||
Mace EM,
|
||
Orange JS,
|
||
Lupski JR,
|
||
Casanova JL,
|
||
Noroski LM</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2014 Oct;34(7):871-90.
|
||
Epub 2014 Jul 30
|
||
doi: 10.1007/s10875-014-0074-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25073507" target="_blank">25073507</a><a href="/pmc/articles/PMC4386834" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24612648">α- and β-papillomavirus infection in a young patient with an unclassified primary T-cell immunodeficiency and multiple mucosal and cutaneous lesions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Landini MM,
|
||
Borgogna C,
|
||
Peretti A,
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|
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<span class="bold">PMID: </span><a href="/pubmed/21514636" target="_blank">21514636</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21242344">Epidermodysplasia verruciformis in human immunodeficiency virus-infected patients: a marker of human papillomavirus-related disorders not affected by antiretroviral therapy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Jacobelli S,
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Laude H,
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Carlotti A,
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<span class="bold">PMID: </span><a href="/pubmed/21242344" target="_blank">21242344</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/3491095">Partial defects of cell-mediated immunity in patients with epidermodysplasia verruciformis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Majewski S,
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Skopinska-Rozewska E,
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Jabłonska S,
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Wasik M,
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1986 Nov;15(5 Pt 1):966-73.
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<span class="bold">PMID: </span><a href="/pubmed/3491095" target="_blank">3491095</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22T-cell%20immunodeficiency%20with%20epidermodysplasia%20verruciformis%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 (7)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30778533">Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Youssefian L,
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Vahidnezhad H,
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Yousefi M,
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Saeidian AH,
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Touati A,
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Nikbakht N,
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Hesari KK,
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Adib-Sereshki MM,
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Zeinali S,
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Mansoori B,
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Jazayeri A,
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2019 May 17;68(11):1938-1941.
|
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doi: 10.1093/cid/ciy942.
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<span class="bold">PMID: </span><a href="/pubmed/30778533" target="_blank">30778533</a><a href="/pmc/articles/PMC7317279" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22476911">Additional diverse findings expand the clinical presentation of DOCK8 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanal O,
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Jing H,
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Ozgur T,
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Ayvaz D,
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Ersoy-Evans S,
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2012 Aug;32(4):698-708.
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Epub 2012 Apr 4
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doi: 10.1007/s10875-012-9664-5.
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<span class="bold">PMID: </span><a href="/pubmed/22476911" target="_blank">22476911</a><a href="/pmc/articles/PMC3732775" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/12207745">CD4+ T lymphocytopenia with disseminated HPV.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stetson CL,
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||
<div class="nl"><a target="_blank" href="/pubmed/6086930">Epidermodysplasia verruciformis: response to therapy with dialyzable leukocyte extract (transfer factor) derived from household contacts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasily DB,
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Miller OF,
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Fudenberg HH,
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1984 May;14(1):49-57.
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<span class="bold">PMID: </span><a href="/pubmed/6086930" target="_blank">6086930</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22T-cell%20immunodeficiency%20with%20epidermodysplasia%20verruciformis%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/14511000">Recurrent 'sterile' verrucous cyst abscesses and epidermodysplasia verruciformis-like eruption associated with idiopathic CD4 lymphopenia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tobin E,
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<span class="bold">PMID: </span><a href="/pubmed/14511000" target="_blank">14511000</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/9990378">Lifelong severe verrucosis associated with human papillomavirus type 2: report of a case with a 38-year follow-up.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Requena L,
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Sarasa JL,
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Terai M,
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22T-cell%20immunodeficiency%20with%20epidermodysplasia%20verruciformis%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38775840">A Novel Homozygous RHOH Variant Associated with T Cell Dysfunction and Recurrent Opportunistic Infections.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhou J,
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Qian M,
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Jiang N,
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Feng X,
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Yu M,
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Min Q,
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Xu H,
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Yang Y,
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Yang Q,
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Zhou F,
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Shao L,
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Zhu H,
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Yang Y,
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Wang JY,
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2024 May 22;44(6):131.
|
||
doi: 10.1007/s10875-024-01735-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38775840" target="_blank">38775840</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21242344">Epidermodysplasia verruciformis in human immunodeficiency virus-infected patients: a marker of human papillomavirus-related disorders not affected by antiretroviral therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jacobelli S,
|
||
Laude H,
|
||
Carlotti A,
|
||
Rozenberg F,
|
||
Deleuze J,
|
||
Morini JP,
|
||
Franck N,
|
||
Gorin I,
|
||
Avril MF,
|
||
Dupin N</span><br />
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||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
2011 May;147(5):590-6.
|
||
Epub 2011 Jan 17
|
||
doi: 10.1001/archdermatol.2010.399.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21242344" target="_blank">21242344</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/848981">Depressed immune function in epidermodysplasia verruciformis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prawer SE,
|
||
Pass F,
|
||
Vance JC,
|
||
Greenberg LJ,
|
||
Yunis EJ,
|
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Zelickson AS</span><br />
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<span class="medgenPMjournal">Arch Dermatol</span>
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||
1977 Apr;113(4):495-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/848981" target="_blank">848981</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22T-cell%20immunodeficiency%20with%20epidermodysplasia%20verruciformis%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 (3)</a></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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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca7cc4a68b6b5afcf3930c">T-cell immunodeficiency with epidermodysplasia verruciformis</a>
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