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<meta name="keywords" content="C4749042, epidermodysplasia verruciformis, susceptibility to, 4, ev4, finding, rhoh, 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="Immunodeficiency-129 (IMD129) is an autosomal recessive immunologic disorder characterized by recurrent bacterial, viral, and fungal infections beginning in the first or second decades of life. Some affected individuals have increased susceptibility to certain human papillomaviruses (HPV), resulting in warts and skin lesions that do not respond to treatment, as well as opportunistic infections. Immunologic studies usually show decreased CD4+ T cells, increased effector memory T cells, and decreased naive T cells, suggesting a defect in T-cell development. Some individuals may also have decreased NK cells and B cells, as well as hypogammaglobulinemia. The phenotype is variable (Crequer et al., 2012; Zhou et al., 2024)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1648396
|
||
ConceptID=C4749042
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Epidermodysplasia verruciformis, susceptibility to, 4<span class="h1sub">(EV4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648396</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:">C4749042</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4; EV4</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="RHOH - ID: 399 - NCBI Gene" href="/gene/399" class="medgenPMinfo">RHOH</a> (4p14)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0032666" target="_blank">MONDO:0032666</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618307" target="_blank">618307</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">
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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">Immunodeficiency-129 (IMD129) is an autosomal recessive immunologic disorder characterized by recurrent bacterial, viral, and fungal infections beginning in the first or second decades of life. Some affected individuals have increased susceptibility to certain human papillomaviruses (HPV), resulting in warts and skin lesions that do not respond to treatment, as well as opportunistic infections. Immunologic studies usually show decreased CD4+ T cells, increased effector memory T cells, and decreased naive T cells, suggesting a defect in T-cell development. Some individuals may also have decreased NK cells and B cells, as well as hypogammaglobulinemia. The phenotype is variable (Crequer et al., 2012; Zhou et al., 2024). [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_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_2377"><div><strong>Burkitt lymphoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2377</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.">C0006413</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Burkitt lymphoma is a rare, aggressive B-cell lymphoma that accounts for 30 to 50% of lymphomas in children but only 1 to 2% of lymphomas in adults (Harris and Horning, 2006). It results from chromosomal translocations that involve the MYC gene (190080) and either the lambda or the kappa light chain immunoglobulin genes (147220, 147200). Burkitt lymphoma is causally related to the Epstein-Barr virus (EBV), although the pathogenetic mechanisms are not clear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2377">Feature record</a> | <a href="/medgen?term=%22Burkitt%20lymphoma%22%5BClinical%20Features%5D%20OR%202377%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1708110"><div><strong>Disseminated cutaneous warts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1708110</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.">C5139200</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1708110">Feature record</a> | <a href="/medgen?term=%22Disseminated%20cutaneous%20warts%22%5BClinical%20Features%5D%20OR%201708110%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18764"><div><strong>Emphysema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18764</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.">C0034067</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18764">Feature record</a> | <a href="/medgen?term=%22Emphysema%22%5BClinical%20Features%5D%20OR%2018764%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52511"><div><strong>Stomatitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52511</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.">C0038362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52511">Feature record</a> | <a href="/medgen?term=%22Stomatitis%22%5BClinical%20Features%5D%20OR%2052511%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1620482"><div><strong>Increased proportion of exhausted T cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1620482</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.">C4531071</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1620482">Feature record</a> | <a href="/medgen?term=%22Increased%20proportion%20of%20exhausted%20T%20cells%22%5BClinical%20Features%5D%20OR%201620482%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65986"><div><strong>Facial erythema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65986</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.">C0239488</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65986">Feature record</a> | <a href="/medgen?term=%22Facial%20erythema%22%5BClinical%20Features%5D%20OR%2065986%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1620482" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased proportion of exhausted T cells</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52511" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stomatitis</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65986" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Facial erythema</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18764" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emphysema</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2377" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Burkitt lymphoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1708110" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Disseminated cutaneous warts</a></span></li></ul></li></ul></div></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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4749042[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648396">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648396" target="_blank" href="/omim/602037">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=1648396" ref="ncbi_uid=1648396">V</a></span></span><span class="TLline">Epidermodysplasia verruciformis, susceptibility to, 4</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867388" ref="tree=MeSH" title="MedGen record for Abnormality of the immune system">Abnormality of the immune system</a></span><ul><li><span class="TLline"><a href="/medgen/869194" ref="tree=MeSH" title="MedGen record for Abnormality of immune system physiology">Abnormality of immune system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/7034" ref="tree=MeSH" title="MedGen record for Immunodeficiency">Immunodeficiency</a></span><ul><li><span class="matched_ds">Epidermodysplasia verruciformis, susceptibility to, 4</span></li></ul></li></ul></li></ul></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
|
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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/38747352">Viral infections and inborn errors of immunity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ewing A,
|
||
Madan RP</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Infect Dis</span>
|
||
2024 Aug 1;37(4):227-231.
|
||
Epub 2024 May 14
|
||
doi: 10.1097/QCO.0000000000001021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38747352" target="_blank">38747352</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32232924">Beta human papillomaviruses infection and skin carcinogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bandolin L,
|
||
Borsetto D,
|
||
Fussey J,
|
||
Da Mosto MC,
|
||
Nicolai P,
|
||
Menegaldo A,
|
||
Calabrese L,
|
||
Tommasino M,
|
||
Boscolo-Rizzo P</span><br />
|
||
<span class="medgenPMjournal">Rev Med Virol</span>
|
||
2020 Jul;30(4):e2104.
|
||
Epub 2020 Mar 30
|
||
doi: 10.1002/rmv.2104.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32232924" target="_blank">32232924</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30653245">Skin Cancer Associated Genodermatoses: A Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schierbeck J,
|
||
Vestergaard T,
|
||
Bygum A</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
|
||
2019 Apr 1;99(4):360-369.
|
||
doi: 10.2340/00015555-3123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30653245" target="_blank">30653245</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28439661">Comparative study of p16 protein expression in squamous cell carcinomas from patients with epidermodysplasia verruciformis and patients without the disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mattos MSG,
|
||
Oliveira WR,
|
||
Sotto MN</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol Res</span>
|
||
2017 Aug;309(6):479-483.
|
||
Epub 2017 Apr 24
|
||
doi: 10.1007/s00403-017-1742-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28439661" target="_blank">28439661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17008061">Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zuo YG,
|
||
Ma D,
|
||
Zhang Y,
|
||
Qiao J,
|
||
Wang B</span><br />
|
||
<span class="medgenPMjournal">J Dermatol Sci</span>
|
||
2006 Dec;44(3):153-9.
|
||
Epub 2006 Sep 27
|
||
doi: 10.1016/j.jdermsci.2006.08.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17008061" target="_blank">17008061</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermodysplasia%20verruciformis%2C%20susceptibility%20to%2C%204%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 (12)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30653245">Skin Cancer Associated Genodermatoses: A Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schierbeck J,
|
||
Vestergaard T,
|
||
Bygum A</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
|
||
2019 Apr 1;99(4):360-369.
|
||
doi: 10.2340/00015555-3123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30653245" target="_blank">30653245</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19450401">Four familial cases of epidermodysplasia verruciformis: mother and three sons.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robati RM,
|
||
Marefat A,
|
||
Saeedi M,
|
||
Rahmati-Roodsari M,
|
||
Asadi-Kani Z</span><br />
|
||
<span class="medgenPMjournal">Dermatol Online J</span>
|
||
2009 Apr 15;15(4):8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19450401" target="_blank">19450401</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17139267">Novel homozygous frameshift mutation of EVER1 gene in an epidermodysplasia verruciformis patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gober MD,
|
||
Rady PL,
|
||
He Q,
|
||
Tucker SB,
|
||
Tyring SK,
|
||
Gaspari AA</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
2007 Apr;127(4):817-20.
|
||
Epub 2006 Nov 30
|
||
doi: 10.1038/sj.jid.5700641.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17139267" target="_blank">17139267</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermodysplasia%20verruciformis%2C%20susceptibility%20to%2C%204%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 (3)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32232924">Beta human papillomaviruses infection and skin carcinogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bandolin L,
|
||
Borsetto D,
|
||
Fussey J,
|
||
Da Mosto MC,
|
||
Nicolai P,
|
||
Menegaldo A,
|
||
Calabrese L,
|
||
Tommasino M,
|
||
Boscolo-Rizzo P</span><br />
|
||
<span class="medgenPMjournal">Rev Med Virol</span>
|
||
2020 Jul;30(4):e2104.
|
||
Epub 2020 Mar 30
|
||
doi: 10.1002/rmv.2104.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32232924" target="_blank">32232924</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23610850">Dye laser photodynamic therapy for Bowen's disease in a patient with epidermodysplasia verruciformis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sunohara M,
|
||
Ozawa T,
|
||
Morimoto K,
|
||
Harada T,
|
||
Ishii M,
|
||
Fukai K</span><br />
|
||
<span class="medgenPMjournal">Osaka City Med J</span>
|
||
2012 Dec;58(2):77-82.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23610850" target="_blank">23610850</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23317490">Epidermodysplasia verruciformis associated with plasmablastic lymphoma and hepatitis B virus infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shayanfar N,
|
||
Babaheidarian P,
|
||
Rahmani H,
|
||
Azadmanesh K,
|
||
Sohrabi A,
|
||
Mohammadpour M,
|
||
Mirzaie AZ,
|
||
Parvaneh N</span><br />
|
||
<span class="medgenPMjournal">Acta Dermatovenerol Croat</span>
|
||
2012;20(4):267-71.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23317490" target="_blank">23317490</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22377919">Human papillomavirus and squamous cell cancer of the skin--epidermodysplasia verruciformis-associated human papillomavirus revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arnold AW,
|
||
Hofbauer GF</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Dermatol</span>
|
||
2012;43:49-56.
|
||
Epub 2012 Feb 17
|
||
doi: 10.1159/000335151.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22377919" target="_blank">22377919</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6384282">Response of warts in epidermodysplasia verruciformis to treatment with systemic and intralesional alpha interferon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Androphy EJ,
|
||
Dvoretzky I,
|
||
Maluish AE,
|
||
Wallace HJ,
|
||
Lowy DR</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
1984 Aug;11(2 Pt 1):197-202.
|
||
doi: 10.1016/s0190-9622(84)70149-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6384282" target="_blank">6384282</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermodysplasia%20verruciformis%2C%20susceptibility%20to%2C%204%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/19924140">Seroreactivity of 38 human papillomavirus types in epidermodysplasia verruciformis patients, relatives, and controls.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Michael KM,
|
||
Waterboer T,
|
||
Pfister H,
|
||
Gariglio M,
|
||
Majewski S,
|
||
Favre M,
|
||
Pawlita M</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
2010 Mar;130(3):841-8.
|
||
Epub 2009 Nov 19
|
||
doi: 10.1038/jid.2009.356.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19924140" target="_blank">19924140</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19515043">Comparative analysis of the expression of cytokeratins (1, 10, 14, 16, 4), involucrin, filaggrin and e-cadherin in plane warts and epidermodysplasia verruciformis plane wart-type lesions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barcelos AC,
|
||
Sotto MN</span><br />
|
||
<span class="medgenPMjournal">J Cutan Pathol</span>
|
||
2009 Jun;36(6):647-54.
|
||
doi: 10.1111/j.1600-0560.2008.01127.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19515043" target="_blank">19515043</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermodysplasia%20verruciformis%2C%20susceptibility%20to%2C%204%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 (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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</div>
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||
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||
<div class="portlet mgSection" id="ID_106">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4749042%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C4749042%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4749042%5bDISCUI%5d" target="_blank">See all (5)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=618307" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Epidermodysplasia%20verruciformis,%20susceptibility%20to,%204" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=602037" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=399[geneid]" target="_blank">View RHOH variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=618307" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
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|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/epidermodysplasia_verruciformis_4" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Epidermodysplasia%20verruciformis,%20susceptibility%20to,%204" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
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<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<div class="portlet_title">
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<h3>Reviews</h3>
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</div>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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</div>
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<div class="portlet_content">
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<ul>
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<li>
|
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<a href="/pubmed/clinical?term=Epidermodysplasia%20verruciformis,%20susceptibility%20to,%204" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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</li>
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<li>
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