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<meta name="keywords" content="C1865370, artemis deficiency, athabaskan severe combined immunodeficiency, dclre1c, dclre1c severe combined immunodeficiency (disease), disease or syndrome, rs-scid, scid due to artemis deficiency, scid due to dclre1c deficiency, scid, athabascan type, scid, athabaskan type, scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with sensitivity to ionising radiation, scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with sensitivity to ionizing radiation, severe combined immunodeficiency (disease) caused by mutation in dclre1c, severe combined immunodeficiency due to artemis deficiency, severe combined immunodeficiency due to dclre1c deficiency, severe combined immunodeficiency with sensitivity to ionising radiation, severe combined immunodeficiency with sensitivity to ionizing radiation, severe combined immunodeficiency, athabascan type, severe combined immunodeficiency, athabaskan type, severe combined immunodeficiency, athabaskan-type, severe combined immunodeficiency, partial, 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="Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=355454
|
||
ConceptID=C1865370
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Severe combined immunodeficiency due to DCLRE1C deficiency<span class="h1sub">(RS-SCID)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355454</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:">C1865370</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>RS-SCID; SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION; Severe combined immunodeficiency with sensitivity to ionizing radiation</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><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="DCLRE1C - ID: 64421 - NCBI Gene" href="/gene/64421" class="medgenPMinfo">DCLRE1C</a> (10p13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011225" target="_blank">MONDO:0011225</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/602450" target="_blank">602450</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=275">ORPHA275</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">Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_102">
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||
<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_57716"><div><strong>Genital ulcers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57716</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.">C0151281</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57716">Feature record</a> | <a href="/medgen?term=%22Genital%20ulcers%22%5BClinical%20Features%5D%20OR%2057716%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</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.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</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.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased size of the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96036"><div><strong>Chronic diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96036</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.">C0401151</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96036">Feature record</a> | <a href="/medgen?term=%22Chronic%20diarrhea%22%5BClinical%20Features%5D%20OR%2096036%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_154380"><div><strong>Recurrent upper respiratory tract infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154380</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.">C0581381</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154380">Feature record</a> | <a href="/medgen?term=%22Recurrent%20upper%20respiratory%20tract%20infections%22%5BClinical%20Features%5D%20OR%20154380%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41824"><div><strong>Eosinophilia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41824</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.">C0014457</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased count of eosinophils in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41824">Feature record</a> | <a href="/medgen?term=%22Eosinophilia%22%5BClinical%20Features%5D%20OR%2041824%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7418"><div><strong>Lymphopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7418</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.">C0024312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced number of lymphocytes in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7418">Feature record</a> | <a href="/medgen?term=%22Lymphopenia%22%5BClinical%20Features%5D%20OR%207418%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45253"><div><strong>Otitis media</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45253</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.">C0029882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation or infection of the middle ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45253">Feature record</a> | <a href="/medgen?term=%22Otitis%20media%22%5BClinical%20Features%5D%20OR%2045253%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10813"><div><strong>Pneumonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10813</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.">C0032285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of any part of the lung parenchyma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10813">Feature record</a> | <a href="/medgen?term=%22Pneumonia%22%5BClinical%20Features%5D%20OR%2010813%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48626"><div><strong>Sepsis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48626</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.">C0036690</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Systemic inflammatory response to infection.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48626">Feature record</a> | <a href="/medgen?term=%22Sepsis%22%5BClinical%20Features%5D%20OR%2048626%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</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.">C0038002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_88328"><div><strong>Severe combined immunodeficiency disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88328</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.">C0085110</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/88328">Feature record</a> | <a href="/medgen?term=%22Severe%20combined%20immunodeficiency%20disease%22%5BClinical%20Features%5D%20OR%2088328%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116018"><div><strong>Increased circulating IgE concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116018</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.">C0236175</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased overall level of immunoglobulin E in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116018">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20IgE%20concentration%22%5BClinical%20Features%5D%20OR%20116018%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96909"><div><strong>Generalized lymphadenopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96909</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.">C0476486</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized form of lymphadenopathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96909">Feature record</a> | <a href="/medgen?term=%22Generalized%20lymphadenopathy%22%5BClinical%20Features%5D%20OR%2096909%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_154366"><div><strong>Absent tonsils</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154366</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.">C0576999</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of observable tonsillar tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154366">Feature record</a> | <a href="/medgen?term=%22Absent%20tonsils%22%5BClinical%20Features%5D%20OR%20154366%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_146900"><div><strong>Aplasia of the thymus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>146900</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.">C0685894</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/146900">Feature record</a> | <a href="/medgen?term=%22Aplasia%20of%20the%20thymus%22%5BClinical%20Features%5D%20OR%20146900%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_233072"><div><strong>Panhypogammaglobulinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>233072</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.">C1328587</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/233072">Feature record</a> | <a href="/medgen?term=%22Panhypogammaglobulinemia%22%5BClinical%20Features%5D%20OR%20233072%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340780"><div><strong>B lymphocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340780</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.">C1855067</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal decrease from the normal count of B cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340780">Feature record</a> | <a href="/medgen?term=%22B%20lymphocytopenia%22%5BClinical%20Features%5D%20OR%20340780%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892318"><div><strong>Lymph node hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892318</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.">C4025683</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the lymph nodes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892318">Feature record</a> | <a href="/medgen?term=%22Lymph%20node%20hypoplasia%22%5BClinical%20Features%5D%20OR%20892318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1611921"><div><strong>Abnormally low T cell receptor excision circle level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1611921</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.">C4531052</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1611921">Feature record</a> | <a href="/medgen?term=%22Abnormally%20low%20T%20cell%20receptor%20excision%20circle%20level%22%5BClinical%20Features%5D%20OR%201611921%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1684722"><div><strong>BCGitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684722</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.">C5139070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684722">Feature record</a> | <a href="/medgen?term=%22BCGitis%22%5BClinical%20Features%5D%20OR%201684722%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57699"><div><strong>Oral ulcer</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57699</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.">C0149745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57699">Feature record</a> | <a href="/medgen?term=%22Oral%20ulcer%22%5BClinical%20Features%5D%20OR%2057699%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_658454"><div><strong>Alopecia of scalp</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>658454</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.">C0574769</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/658454">Feature record</a> | <a href="/medgen?term=%22Alopecia%20of%20scalp%22%5BClinical%20Features%5D%20OR%20658454%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_834002"><div><strong>Erythematous papule</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>834002</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.">C0747241</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/834002">Feature record</a> | <a href="/medgen?term=%22Erythematous%20papule%22%5BClinical%20Features%5D%20OR%20834002%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_658454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alopecia of scalp</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57699" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oral ulcer</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96036" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic diarrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57716" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Genital ulcers</a></span></li></ul></li><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_1611921" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormally low T cell receptor excision circle level</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent tonsils</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_146900" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aplasia of the thymus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">B lymphocytopenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1684722" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">BCGitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41824" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eosinophilia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96909" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized lymphadenopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116018" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating IgE concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymph node hypoplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7418" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphopenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45253" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Otitis media</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_233072" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Panhypogammaglobulinemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10813" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pneumonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48626" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sepsis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_88328" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe combined immunodeficiency disease</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</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_834002" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Erythematous papule</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_154380" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent upper respiratory tract infections</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</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><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=C1865370[DISCUI]&test_type=Clinical" ref="ncbi_uid=355454">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355454" target="_blank" href="/omim/602450">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=355454" ref="ncbi_uid=355454">V</a></span></span><span class="TLline">Severe combined immunodeficiency due to DCLRE1C deficiency</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842252" ref="tree=MeSH" title="MedGen record for T-B- severe combined immunodeficiency">T-B- severe combined immunodeficiency</a></span><ul><li><span class="matched_ds">Severe combined immunodeficiency due to DCLRE1C deficiency</span></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&data_id=156&PatId=993&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Severe combined immunodeficiency due to DCLRE1C deficiency</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/36189201">Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boyarchuk O,
|
||
Yarema N,
|
||
Kravets V,
|
||
Shulhai O,
|
||
Shymanska I,
|
||
Chornomydz I,
|
||
Hariyan T,
|
||
Volianska L,
|
||
Kinash M,
|
||
Makukh H</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2022;13:999664.
|
||
Epub 2022 Sep 15
|
||
doi: 10.3389/fimmu.2022.999664.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36189201" target="_blank">36189201</a><a href="/pmc/articles/PMC9521488" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30154114">SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haddad E,
|
||
Logan BR,
|
||
Griffith LM,
|
||
Buckley RH,
|
||
Parrott RE,
|
||
Prockop SE,
|
||
Small TN,
|
||
Chaisson J,
|
||
Dvorak CC,
|
||
Murnane M,
|
||
Kapoor N,
|
||
Abdel-Azim H,
|
||
Hanson IC,
|
||
Martinez C,
|
||
Bleesing JJH,
|
||
Chandra S,
|
||
Smith AR,
|
||
Cavanaugh ME,
|
||
Jyonouchi S,
|
||
Sullivan KE,
|
||
Burroughs L,
|
||
Skoda-Smith S,
|
||
Haight AE,
|
||
Tumlin AG,
|
||
Quigg TC,
|
||
Taylor C,
|
||
Dávila Saldaña BJ,
|
||
Keller MD,
|
||
Seroogy CM,
|
||
Desantes KB,
|
||
Petrovic A,
|
||
Leiding JW,
|
||
Shyr DC,
|
||
Decaluwe H,
|
||
Teira P,
|
||
Gillio AP,
|
||
Knutsen AP,
|
||
Moore TB,
|
||
Kletzel M,
|
||
Craddock JA,
|
||
Aquino V,
|
||
Davis JH,
|
||
Yu LC,
|
||
Cuvelier GDE,
|
||
Bednarski JJ,
|
||
Goldman FD,
|
||
Kang EM,
|
||
Shereck E,
|
||
Porteus MH,
|
||
Connelly JA,
|
||
Fleisher TA,
|
||
Malech HL,
|
||
Shearer WT,
|
||
Szabolcs P,
|
||
Thakar MS,
|
||
Vander Lugt MT,
|
||
Heimall J,
|
||
Yin Z,
|
||
Pulsipher MA,
|
||
Pai SY,
|
||
Kohn DB,
|
||
Puck JM,
|
||
Cowan MJ,
|
||
O'Reilly RJ,
|
||
Notarangelo LD</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2018 Oct 25;132(17):1737-1749.
|
||
Epub 2018 Aug 28
|
||
doi: 10.1182/blood-2018-03-840702.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30154114" target="_blank">30154114</a><a href="/pmc/articles/PMC6202916" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(severe%20combined%20immunodeficiency%20due%20to%20dclre1c%20deficiency)%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/39425552">Variable clinical presentation of hypomorphic DCLRE1C deficiency from childhood to adulthood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hazar E,
|
||
Karaselek MA,
|
||
Kapakli H,
|
||
Dogar O,
|
||
Kuccukturk S,
|
||
Uygun V,
|
||
Artac H,
|
||
Fındık S,
|
||
Sahin A,
|
||
Arslan S,
|
||
Guner S,
|
||
Reisli I,
|
||
Keles S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Allergy Immunol</span>
|
||
2024 Oct;35(10):e14260.
|
||
doi: 10.1111/pai.14260.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39425552" target="_blank">39425552</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36456360">The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dvorak CC,
|
||
Haddad E,
|
||
Heimall J,
|
||
Dunn E,
|
||
Cowan MJ,
|
||
Pai SY,
|
||
Kapoor N,
|
||
Satter LF,
|
||
Buckley RH,
|
||
O'Reilly RJ,
|
||
Chandra S,
|
||
Bednarski JJ,
|
||
Williams O,
|
||
Rayes A,
|
||
Moore TB,
|
||
Ebens CL,
|
||
Davila Saldana BJ,
|
||
Petrovic A,
|
||
Chellapandian D,
|
||
Cuvelier GDE,
|
||
Vander Lugt MT,
|
||
Caywood EH,
|
||
Chandrakasan S,
|
||
Eissa H,
|
||
Goldman FD,
|
||
Shereck E,
|
||
Aquino VM,
|
||
Desantes KB,
|
||
Madden LM,
|
||
Miller HK,
|
||
Yu L,
|
||
Broglie L,
|
||
Gillio A,
|
||
Shah AJ,
|
||
Knutsen AP,
|
||
Andolina JP,
|
||
Joshi AY,
|
||
Szabolcs P,
|
||
Kapadia M,
|
||
Martinez CA,
|
||
Parrot RE,
|
||
Sullivan KE,
|
||
Prockop SE,
|
||
Abraham RS,
|
||
Thakar MS,
|
||
Leiding JW,
|
||
Kohn DB,
|
||
Pulsipher MA,
|
||
Griffith LM,
|
||
Notarangelo LD,
|
||
Puck JM</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2023 Feb;151(2):547-555.e5.
|
||
Epub 2022 Nov 28
|
||
doi: 10.1016/j.jaci.2022.10.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36456360" target="_blank">36456360</a><a href="/pmc/articles/PMC9905305" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35303369">Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aykut A,
|
||
Durmaz A,
|
||
Karaca N,
|
||
Gulez N,
|
||
Genel F,
|
||
Celmeli F,
|
||
Ozturk G,
|
||
Atay D,
|
||
Aydogmus C,
|
||
Kiykim A,
|
||
Aksu G,
|
||
Kutukculer N</span><br />
|
||
<span class="medgenPMjournal">Scand J Immunol</span>
|
||
2022 Jun;95(6):e13163.
|
||
Epub 2022 Mar 23
|
||
doi: 10.1111/sji.13163.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35303369" target="_blank">35303369</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32265901">EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kalina T,
|
||
Bakardjieva M,
|
||
Blom M,
|
||
Perez-Andres M,
|
||
Barendregt B,
|
||
Kanderová V,
|
||
Bonroy C,
|
||
Philippé J,
|
||
Blanco E,
|
||
Pico-Knijnenburg I,
|
||
Paping JHMP,
|
||
Wolska-Kuśnierz B,
|
||
Pac M,
|
||
Tkazcyk J,
|
||
Haerynck F,
|
||
Akar HH,
|
||
Formánková R,
|
||
Freiberger T,
|
||
Svatoň M,
|
||
Šedivá A,
|
||
Arriba-Méndez S,
|
||
Orfao A,
|
||
van Dongen JJM,
|
||
van der Burg M</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2020;11:371.
|
||
Epub 2020 Mar 19
|
||
doi: 10.3389/fimmu.2020.00371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32265901" target="_blank">32265901</a><a href="/pmc/articles/PMC7096355" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28436970">Unconditioned unrelated donor bone marrow transplantation for IL7Rα- and Artemis-deficient SCID.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dvorak CC,
|
||
Patel K,
|
||
Puck JM,
|
||
Wahlstrom J,
|
||
Dorsey MJ,
|
||
Adams R,
|
||
Facchino J,
|
||
Cowan MJ</span><br />
|
||
<span class="medgenPMjournal">Bone Marrow Transplant</span>
|
||
2017 Jul;52(7):1036-1038.
|
||
Epub 2017 Apr 24
|
||
doi: 10.1038/bmt.2017.74.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28436970" target="_blank">28436970</a><a href="/pmc/articles/PMC5774618" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Severe%20combined%20immunodeficiency%20due%20to%20DCLRE1C%20deficiency%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 (15)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39425552">Variable clinical presentation of hypomorphic DCLRE1C deficiency from childhood to adulthood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hazar E,
|
||
Karaselek MA,
|
||
Kapakli H,
|
||
Dogar O,
|
||
Kuccukturk S,
|
||
Uygun V,
|
||
Artac H,
|
||
Fındık S,
|
||
Sahin A,
|
||
Arslan S,
|
||
Guner S,
|
||
Reisli I,
|
||
Keles S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Allergy Immunol</span>
|
||
2024 Oct;35(10):e14260.
|
||
doi: 10.1111/pai.14260.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39425552" target="_blank">39425552</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36456360">The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dvorak CC,
|
||
Haddad E,
|
||
Heimall J,
|
||
Dunn E,
|
||
Cowan MJ,
|
||
Pai SY,
|
||
Kapoor N,
|
||
Satter LF,
|
||
Buckley RH,
|
||
O'Reilly RJ,
|
||
Chandra S,
|
||
Bednarski JJ,
|
||
Williams O,
|
||
Rayes A,
|
||
Moore TB,
|
||
Ebens CL,
|
||
Davila Saldana BJ,
|
||
Petrovic A,
|
||
Chellapandian D,
|
||
Cuvelier GDE,
|
||
Vander Lugt MT,
|
||
Caywood EH,
|
||
Chandrakasan S,
|
||
Eissa H,
|
||
Goldman FD,
|
||
Shereck E,
|
||
Aquino VM,
|
||
Desantes KB,
|
||
Madden LM,
|
||
Miller HK,
|
||
Yu L,
|
||
Broglie L,
|
||
Gillio A,
|
||
Shah AJ,
|
||
Knutsen AP,
|
||
Andolina JP,
|
||
Joshi AY,
|
||
Szabolcs P,
|
||
Kapadia M,
|
||
Martinez CA,
|
||
Parrot RE,
|
||
Sullivan KE,
|
||
Prockop SE,
|
||
Abraham RS,
|
||
Thakar MS,
|
||
Leiding JW,
|
||
Kohn DB,
|
||
Pulsipher MA,
|
||
Griffith LM,
|
||
Notarangelo LD,
|
||
Puck JM</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2023 Feb;151(2):547-555.e5.
|
||
Epub 2022 Nov 28
|
||
doi: 10.1016/j.jaci.2022.10.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36456360" target="_blank">36456360</a><a href="/pmc/articles/PMC9905305" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36546626">Lentiviral Gene Therapy for Artemis-Deficient SCID.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cowan MJ,
|
||
Yu J,
|
||
Facchino J,
|
||
Fraser-Browne C,
|
||
Sanford U,
|
||
Kawahara M,
|
||
Dara J,
|
||
Long-Boyle J,
|
||
Oh J,
|
||
Chan W,
|
||
Chag S,
|
||
Broderick L,
|
||
Chellapandian D,
|
||
Decaluwe H,
|
||
Golski C,
|
||
Hu D,
|
||
Kuo CY,
|
||
Miller HK,
|
||
Petrovic A,
|
||
Currier R,
|
||
Hilton JF,
|
||
Punwani D,
|
||
Dvorak CC,
|
||
Malech HL,
|
||
McIvor RS,
|
||
Puck JM</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2022 Dec 22;387(25):2344-2355.
|
||
doi: 10.1056/NEJMoa2206575.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36546626" target="_blank">36546626</a><a href="/pmc/articles/PMC9884487" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35303369">Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aykut A,
|
||
Durmaz A,
|
||
Karaca N,
|
||
Gulez N,
|
||
Genel F,
|
||
Celmeli F,
|
||
Ozturk G,
|
||
Atay D,
|
||
Aydogmus C,
|
||
Kiykim A,
|
||
Aksu G,
|
||
Kutukculer N</span><br />
|
||
<span class="medgenPMjournal">Scand J Immunol</span>
|
||
2022 Jun;95(6):e13163.
|
||
Epub 2022 Mar 23
|
||
doi: 10.1111/sji.13163.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35303369" target="_blank">35303369</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33628209">Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vignesh P,
|
||
Rawat A,
|
||
Kumrah R,
|
||
Singh A,
|
||
Gummadi A,
|
||
Sharma M,
|
||
Kaur A,
|
||
Nameirakpam J,
|
||
Jindal A,
|
||
Suri D,
|
||
Gupta A,
|
||
Khadwal A,
|
||
Saikia B,
|
||
Minz RW,
|
||
Sharma K,
|
||
Desai M,
|
||
Taur P,
|
||
Gowri V,
|
||
Pandrowala A,
|
||
Dalvi A,
|
||
Jodhawat N,
|
||
Kambli P,
|
||
Madkaikar MR,
|
||
Bhattad S,
|
||
Ramprakash S,
|
||
Cp R,
|
||
Jayaram A,
|
||
Sivasankaran M,
|
||
Munirathnam D,
|
||
Balaji S,
|
||
Rajendran A,
|
||
Aggarwal A,
|
||
Singh K,
|
||
Na F,
|
||
George B,
|
||
Mehta A,
|
||
Lashkari HP,
|
||
Uppuluri R,
|
||
Raj R,
|
||
Bartakke S,
|
||
Gupta K,
|
||
Sreedharanunni S,
|
||
Ogura Y,
|
||
Kato T,
|
||
Imai K,
|
||
Chan KW,
|
||
Leung D,
|
||
Ohara O,
|
||
Nonoyama S,
|
||
Hershfield M,
|
||
Lau YL,
|
||
Singh S</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2020;11:619146.
|
||
Epub 2021 Feb 8
|
||
doi: 10.3389/fimmu.2020.619146.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33628209" target="_blank">33628209</a><a href="/pmc/articles/PMC7897653" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Severe%20combined%20immunodeficiency%20due%20to%20DCLRE1C%20deficiency%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 (41)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36546626">Lentiviral Gene Therapy for Artemis-Deficient SCID.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cowan MJ,
|
||
Yu J,
|
||
Facchino J,
|
||
Fraser-Browne C,
|
||
Sanford U,
|
||
Kawahara M,
|
||
Dara J,
|
||
Long-Boyle J,
|
||
Oh J,
|
||
Chan W,
|
||
Chag S,
|
||
Broderick L,
|
||
Chellapandian D,
|
||
Decaluwe H,
|
||
Golski C,
|
||
Hu D,
|
||
Kuo CY,
|
||
Miller HK,
|
||
Petrovic A,
|
||
Currier R,
|
||
Hilton JF,
|
||
Punwani D,
|
||
Dvorak CC,
|
||
Malech HL,
|
||
McIvor RS,
|
||
Puck JM</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2022 Dec 22;387(25):2344-2355.
|
||
doi: 10.1056/NEJMoa2206575.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36546626" target="_blank">36546626</a><a href="/pmc/articles/PMC9884487" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29051008">DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Herz W,
|
||
Massaad MJ,
|
||
Chou J,
|
||
Notarangelo LD,
|
||
Geha RS</span><br />
|
||
<span class="medgenPMjournal">Clin Immunol</span>
|
||
2018 Feb;187:68-75.
|
||
Epub 2017 Oct 16
|
||
doi: 10.1016/j.clim.2017.10.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29051008" target="_blank">29051008</a><a href="/pmc/articles/PMC5826831" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27611239">Lentivirus Mediated Correction of Artemis-Deficient Severe Combined Immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Punwani D,
|
||
Kawahara M,
|
||
Yu J,
|
||
Sanford U,
|
||
Roy S,
|
||
Patel K,
|
||
Carbonaro DA,
|
||
Karlen AD,
|
||
Khan S,
|
||
Cornetta K,
|
||
Rothe M,
|
||
Schambach A,
|
||
Kohn DB,
|
||
Malech HL,
|
||
McIvor RS,
|
||
Puck JM,
|
||
Cowan MJ</span><br />
|
||
<span class="medgenPMjournal">Hum Gene Ther</span>
|
||
2017 Jan;28(1):112-124.
|
||
Epub 2016 Sep 7
|
||
doi: 10.1089/hum.2016.064.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27611239" target="_blank">27611239</a><a href="/pmc/articles/PMC5278830" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26361272">Lymphopoiesis in transgenic mice over-expressing Artemis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rivera-Munoz P,
|
||
Abramowski V,
|
||
Jacquot S,
|
||
André P,
|
||
Charrier S,
|
||
Lipson-Ruffert K,
|
||
Fischer A,
|
||
Galy A,
|
||
Cavazzana M,
|
||
de Villartay JP</span><br />
|
||
<span class="medgenPMjournal">Gene Ther</span>
|
||
2016 Feb;23(2):176-86.
|
||
Epub 2015 Oct 1
|
||
doi: 10.1038/gt.2015.95.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26361272" target="_blank">26361272</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19692705">Reduced immunoglobulin class switch recombination in the absence of Artemis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rivera-Munoz P,
|
||
Soulas-Sprauel P,
|
||
Le Guyader G,
|
||
Abramowski V,
|
||
Bruneau S,
|
||
Fischer A,
|
||
Pâques F,
|
||
de Villartay JP</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2009 Oct 22;114(17):3601-9.
|
||
Epub 2009 Aug 19
|
||
doi: 10.1182/blood-2008-11-188383.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19692705" target="_blank">19692705</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Severe%20combined%20immunodeficiency%20due%20to%20DCLRE1C%20deficiency%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39425552">Variable clinical presentation of hypomorphic DCLRE1C deficiency from childhood to adulthood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hazar E,
|
||
Karaselek MA,
|
||
Kapakli H,
|
||
Dogar O,
|
||
Kuccukturk S,
|
||
Uygun V,
|
||
Artac H,
|
||
Fındık S,
|
||
Sahin A,
|
||
Arslan S,
|
||
Guner S,
|
||
Reisli I,
|
||
Keles S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Allergy Immunol</span>
|
||
2024 Oct;35(10):e14260.
|
||
doi: 10.1111/pai.14260.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39425552" target="_blank">39425552</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35303369">Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aykut A,
|
||
Durmaz A,
|
||
Karaca N,
|
||
Gulez N,
|
||
Genel F,
|
||
Celmeli F,
|
||
Ozturk G,
|
||
Atay D,
|
||
Aydogmus C,
|
||
Kiykim A,
|
||
Aksu G,
|
||
Kutukculer N</span><br />
|
||
<span class="medgenPMjournal">Scand J Immunol</span>
|
||
2022 Jun;95(6):e13163.
|
||
Epub 2022 Mar 23
|
||
doi: 10.1111/sji.13163.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35303369" target="_blank">35303369</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34220820">A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strubbe S,
|
||
De Bruyne M,
|
||
Pannicke U,
|
||
Beyls E,
|
||
Vandekerckhove B,
|
||
Leclercq G,
|
||
De Baere E,
|
||
Bordon V,
|
||
Vral A,
|
||
Schwarz K,
|
||
Haerynck F,
|
||
Taghon T</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2021;12:674226.
|
||
Epub 2021 Jun 17
|
||
doi: 10.3389/fimmu.2021.674226.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34220820" target="_blank">34220820</a><a href="/pmc/articles/PMC8248492" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30154114">SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haddad E,
|
||
Logan BR,
|
||
Griffith LM,
|
||
Buckley RH,
|
||
Parrott RE,
|
||
Prockop SE,
|
||
Small TN,
|
||
Chaisson J,
|
||
Dvorak CC,
|
||
Murnane M,
|
||
Kapoor N,
|
||
Abdel-Azim H,
|
||
Hanson IC,
|
||
Martinez C,
|
||
Bleesing JJH,
|
||
Chandra S,
|
||
Smith AR,
|
||
Cavanaugh ME,
|
||
Jyonouchi S,
|
||
Sullivan KE,
|
||
Burroughs L,
|
||
Skoda-Smith S,
|
||
Haight AE,
|
||
Tumlin AG,
|
||
Quigg TC,
|
||
Taylor C,
|
||
Dávila Saldaña BJ,
|
||
Keller MD,
|
||
Seroogy CM,
|
||
Desantes KB,
|
||
Petrovic A,
|
||
Leiding JW,
|
||
Shyr DC,
|
||
Decaluwe H,
|
||
Teira P,
|
||
Gillio AP,
|
||
Knutsen AP,
|
||
Moore TB,
|
||
Kletzel M,
|
||
Craddock JA,
|
||
Aquino V,
|
||
Davis JH,
|
||
Yu LC,
|
||
Cuvelier GDE,
|
||
Bednarski JJ,
|
||
Goldman FD,
|
||
Kang EM,
|
||
Shereck E,
|
||
Porteus MH,
|
||
Connelly JA,
|
||
Fleisher TA,
|
||
Malech HL,
|
||
Shearer WT,
|
||
Szabolcs P,
|
||
Thakar MS,
|
||
Vander Lugt MT,
|
||
Heimall J,
|
||
Yin Z,
|
||
Pulsipher MA,
|
||
Pai SY,
|
||
Kohn DB,
|
||
Puck JM,
|
||
Cowan MJ,
|
||
O'Reilly RJ,
|
||
Notarangelo LD</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2018 Oct 25;132(17):1737-1749.
|
||
Epub 2018 Aug 28
|
||
doi: 10.1182/blood-2018-03-840702.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30154114" target="_blank">30154114</a><a href="/pmc/articles/PMC6202916" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24230999">The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee PP,
|
||
Woodbine L,
|
||
Gilmour KC,
|
||
Bibi S,
|
||
Cale CM,
|
||
Amrolia PJ,
|
||
Veys PA,
|
||
Davies EG,
|
||
Jeggo PA,
|
||
Jones A</span><br />
|
||
<span class="medgenPMjournal">Clin Immunol</span>
|
||
2013 Dec;149(3):464-74.
|
||
Epub 2013 Aug 27
|
||
doi: 10.1016/j.clim.2013.08.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24230999" target="_blank">24230999</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Severe%20combined%20immunodeficiency%20due%20to%20DCLRE1C%20deficiency%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 (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39425552">Variable clinical presentation of hypomorphic DCLRE1C deficiency from childhood to adulthood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hazar E,
|
||
Karaselek MA,
|
||
Kapakli H,
|
||
Dogar O,
|
||
Kuccukturk S,
|
||
Uygun V,
|
||
Artac H,
|
||
Fındık S,
|
||
Sahin A,
|
||
Arslan S,
|
||
Guner S,
|
||
Reisli I,
|
||
Keles S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Allergy Immunol</span>
|
||
2024 Oct;35(10):e14260.
|
||
doi: 10.1111/pai.14260.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39425552" target="_blank">39425552</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38860449">Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meric Z,
|
||
Gemici Karaaslan B,
|
||
Yalcin Gungoren E,
|
||
Bektas Hortoglu M,
|
||
Cavas T,
|
||
Aydemir S,
|
||
Bilgic Eltan S,
|
||
Firtina S,
|
||
Kendir Demirkol Y,
|
||
Eser M,
|
||
Cekic S,
|
||
Kilic S,
|
||
Karasu G,
|
||
Yesilipek MA,
|
||
Eke Gungor H,
|
||
Karakoc-Aydiner E,
|
||
Ozen A,
|
||
Baris S,
|
||
Yucel E,
|
||
Cokugras H,
|
||
Kiykim A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Allergy Immunol</span>
|
||
2024 Jun;35(6):e14171.
|
||
doi: 10.1111/pai.14171.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38860449" target="_blank">38860449</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26476407">DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Volk T,
|
||
Pannicke U,
|
||
Reisli I,
|
||
Bulashevska A,
|
||
Ritter J,
|
||
Björkman A,
|
||
Schäffer AA,
|
||
Fliegauf M,
|
||
Sayar EH,
|
||
Salzer U,
|
||
Fisch P,
|
||
Pfeifer D,
|
||
Di Virgilio M,
|
||
Cao H,
|
||
Yang F,
|
||
Zimmermann K,
|
||
Keles S,
|
||
Caliskaner Z,
|
||
Güner SÜ,
|
||
Schindler D,
|
||
Hammarström L,
|
||
Rizzi M,
|
||
Hummel M,
|
||
Pan-Hammarström Q,
|
||
Schwarz K,
|
||
Grimbacher B</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2015 Dec 20;24(25):7361-72.
|
||
Epub 2015 Oct 16
|
||
doi: 10.1093/hmg/ddv437.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26476407" target="_blank">26476407</a><a href="/pmc/articles/PMC4664172" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25917813">Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Felgentreff K,
|
||
Lee YN,
|
||
Frugoni F,
|
||
Du L,
|
||
van der Burg M,
|
||
Giliani S,
|
||
Tezcan I,
|
||
Reisli I,
|
||
Mejstrikova E,
|
||
de Villartay JP,
|
||
Sleckman BP,
|
||
Manis J,
|
||
Notarangelo LD</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2015 Jul;136(1):140-150.e7.
|
||
Epub 2015 Apr 25
|
||
doi: 10.1016/j.jaci.2015.03.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25917813" target="_blank">25917813</a><a href="/pmc/articles/PMC4494888" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24230999">The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee PP,
|
||
Woodbine L,
|
||
Gilmour KC,
|
||
Bibi S,
|
||
Cale CM,
|
||
Amrolia PJ,
|
||
Veys PA,
|
||
Davies EG,
|
||
Jeggo PA,
|
||
Jones A</span><br />
|
||
<span class="medgenPMjournal">Clin Immunol</span>
|
||
2013 Dec;149(3):464-74.
|
||
Epub 2013 Aug 27
|
||
doi: 10.1016/j.clim.2013.08.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24230999" target="_blank">24230999</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Severe%20combined%20immunodeficiency%20due%20to%20DCLRE1C%20deficiency%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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/24230999">The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee PP,
|
||
Woodbine L,
|
||
Gilmour KC,
|
||
Bibi S,
|
||
Cale CM,
|
||
Amrolia PJ,
|
||
Veys PA,
|
||
Davies EG,
|
||
Jeggo PA,
|
||
Jones A</span><br />
|
||
<span class="medgenPMjournal">Clin Immunol</span>
|
||
2013 Dec;149(3):464-74.
|
||
Epub 2013 Aug 27
|
||
doi: 10.1016/j.clim.2013.08.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24230999" target="_blank">24230999</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Severe%20combined%20immunodeficiency%20due%20to%20DCLRE1C%20deficiency%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>
|
||
</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">
|
||
<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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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=C1865370%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (24)</a></li>
|
||
<li><a href="/gtr/tests?term=C1865370%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1865370%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C1865370%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (33)</a></li>
|
||
<li><a href="/gtr/tests?term=C1865370%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (10)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1865370%5bDISCUI%5d" target="_blank">See all (45)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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>
|
||
<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=602450" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=275" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Severe%20combined%20immunodeficiency%20due%20to%20DCLRE1C%20deficiency" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(severe%20combined%20immunodeficiency%20due%20to%20dclre1c%20deficiency)%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>
|
||
</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>
|
||
<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=605988" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=64421[geneid]" target="_blank">View DCLRE1C variations in ClinVar</a></li><li><a href="/nuccore/163965401" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=602450" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Severe+combined+immunodeficiency+with+sensitivity+to+ionizing+radiation/6524" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/severe_combined_immunodeficiency_with_sensitivity_to_ionizing_radiation" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Severe%20combined%20immunodeficiency%20due%20to%20DCLRE1C%20deficiency" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/9987/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<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>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Severe%20combined%20immunodeficiency%20due%20to%20DCLRE1C%20deficiency" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Severe%20combined%20immunodeficiency%20due%20to%20DCLRE1C%20deficiency%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
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|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=355454" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=355454" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1865370[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1865370[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=355454" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
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|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=355454" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=355454" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=355454" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=355454" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=355454" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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|
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<div id="HTDisplay" class="">
|
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<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
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<div class="action">
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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||
Clear
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn Off
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