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<meta name="keywords" content="C1833275, autosomal recessive t cell-negative, b cell-positive, nk cell-negative severe combined immunodeficiency, autosomal recessive t-b+nk- scid, disease or syndrome, jak3, jak3 deficiency, jak3 scid, jak3-deficient severe combined immunodeficiency, scid, autosomal recessive, t-negative/b-positive type, scid, t cell-negative, b cell-positive, nk cell-negative, severe combined immunodeficiency t-cell negative b-cell positive due to janus kinase-3 deficiency, severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative, severe combined immunodeficiency, autosomal recessive, t-cell negative, b-cell positive, nk-cell negative, t cell-negative, b cell-positive, nk cell-negative scid, t-b+ scid due to jak3 deficiency, t-b+ severe combined immunodeficiency due to jak3 deficiency, t-cell negative b-cell positive severe combined immunodeficiency due to jak3 deficiency, 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="JAK3-deficient severe combined immunodeficiency (SCID) is an inherited disorder of the immune system. Individuals with JAK3-deficient SCID lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with JAK3-deficient SCID are described as opportunistic because they ordinarily do not cause illness in healthy people. Affected infants typically develop chronic diarrhea, a fungal infection in the mouth called oral thrush, pneumonia, and skin rashes. Persistent illness also causes affected individuals to grow more slowly than other children. Without treatment, people with JAK3-deficient SCID usually live only into early childhood." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=331474
|
||
ConceptID=C1833275
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">T-B+ severe combined immunodeficiency due to JAK3 deficiency</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331474</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:">C1833275</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>SCID, autosomal recessive, T-negative/B-positive type; SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency (718107000); Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency (718107000)</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="JAK3 - ID: 3718 - NCBI Gene" href="/gene/3718" class="medgenPMinfo">JAK3</a> (19p13.11)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010938" target="_blank">MONDO:0010938</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/600802" target="_blank">600802</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=35078">ORPHA35078</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
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<div class="portlet mgSection" id="ID_100">
|
||
<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">JAK3-deficient severe combined immunodeficiency (SCID) is an inherited disorder of the immune system. Individuals with JAK3-deficient SCID lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with JAK3-deficient SCID are described as opportunistic because they ordinarily do not cause illness in healthy people. Affected infants typically develop chronic diarrhea, a fungal infection in the mouth called oral thrush, pneumonia, and skin rashes. Persistent illness also causes affected individuals to grow more slowly than other children. Without treatment, people with JAK3-deficient SCID usually live only into early childhood. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
||
</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_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_43933"><div><strong>Intestinal obstruction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43933</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.">C0021843</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43933">Feature record</a> | <a href="/medgen?term=%22Intestinal%20obstruction%22%5BClinical%20Features%5D%20OR%2043933%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_756211"><div><strong>Recurrent lower respiratory tract infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>756211</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.">C3163798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/756211">Feature record</a> | <a href="/medgen?term=%22Recurrent%20lower%20respiratory%20tract%20infections%22%5BClinical%20Features%5D%20OR%20756211%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_6298"><div><strong>Meningitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6298</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.">C0025289</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of the meninges.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6298">Feature record</a> | <a href="/medgen?term=%22Meningitis%22%5BClinical%20Features%5D%20OR%206298%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_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_155436"><div><strong>Recurrent otitis media</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155436</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.">C0747085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155436">Feature record</a> | <a href="/medgen?term=%22Recurrent%20otitis%20media%22%5BClinical%20Features%5D%20OR%20155436%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_341411"><div><strong>Abnormality of B cell physiology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341411</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.">C1849242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the physiological functioning of B cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341411">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20B%20cell%20physiology%22%5BClinical%20Features%5D%20OR%20341411%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_344575"><div><strong>Cutaneous anergy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344575</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.">C1855781</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability to react to a delayed hypersensitivity skin test.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344575">Feature record</a> | <a href="/medgen?term=%22Cutaneous%20anergy%22%5BClinical%20Features%5D%20OR%20344575%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_419385"><div><strong>T lymphocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419385</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.">C2931322</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally low count of T cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419385">Feature record</a> | <a href="/medgen?term=%22T%20lymphocytopenia%22%5BClinical%20Features%5D%20OR%20419385%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871152"><div><strong>Impaired lymphocyte transformation with phytohemagglutinin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871152</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.">C4025625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871152">Feature record</a> | <a href="/medgen?term=%22Impaired%20lymphocyte%20transformation%20with%20phytohemagglutinin%22%5BClinical%20Features%5D%20OR%20871152%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892985"><div><strong>Absent natural killer cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892985</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.">C4073163</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892985">Feature record</a> | <a href="/medgen?term=%22Absent%20natural%20killer%20cells%22%5BClinical%20Features%5D%20OR%20892985%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1614554"><div><strong>Decreased lymphocyte proliferation in response to anti-CD3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1614554</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.">C4531165</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1614554">Feature record</a> | <a href="/medgen?term=%22Decreased%20lymphocyte%20proliferation%20in%20response%20to%20anti-CD3%22%5BClinical%20Features%5D%20OR%201614554%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1780141"><div><strong>Absent peripheral lymph nodes in presence of infection</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1780141</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.">C5539700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1780141">Feature record</a> | <a href="/medgen?term=%22Absent%20peripheral%20lymph%20nodes%20in%20presence%20of%20infection%22%5BClinical%20Features%5D%20OR%201780141%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 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_43933" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intestinal obstruction</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_341411" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of B cell physiology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892985" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent natural killer cells</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1780141" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent peripheral lymph nodes in presence of infection</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_344575" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutaneous anergy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1614554" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased lymphocyte proliferation in response to anti-CD3</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871152" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired lymphocyte transformation with phytohemagglutinin</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_6298" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meningitis</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_155436" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent otitis media</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_419385" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">T lymphocytopenia</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_756211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent lower respiratory tract infections</a></span></li><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=C1833275[DISCUI]&test_type=Clinical" ref="ncbi_uid=331474">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331474" target="_blank" href="/omim/600173">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=331474" ref="ncbi_uid=331474">V</a></span></span><span class="TLline">T-B+ severe combined immunodeficiency due to JAK3 deficiency</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="TLline"><a href="/medgen/751396" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency">Combined immunodeficiency</a></span><ul><li><span class="TLline"><a href="/medgen/88328" ref="tree=MeSH" title="MedGen record for Severe combined immunodeficiency disease">Severe combined immunodeficiency disease</a></span><ul><li><span class="matched_ds">T-B+ severe combined immunodeficiency due to JAK3 deficiency</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=10366&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">T-B+ severe combined immunodeficiency due to JAK3 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/10419614">Prenatal diagnosis of JAK3 deficient SCID.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schumacher RF,
|
||
Mella P,
|
||
Lalatta F,
|
||
Fiorini M,
|
||
Giliani S,
|
||
Villa A,
|
||
Candotti F,
|
||
Notarangelo LD</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
1999 Jul;19(7):653-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10419614" target="_blank">10419614</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(t-b%2B%20severe%20combined%20immunodeficiency%20due%20to%20jak3%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 (1)</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/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/30778343">Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aluri J,
|
||
Desai M,
|
||
Gupta M,
|
||
Dalvi A,
|
||
Terance A,
|
||
Rosenzweig SD,
|
||
Stoddard JL,
|
||
Niemela JE,
|
||
Tamankar V,
|
||
Mhatre S,
|
||
Bargir U,
|
||
Kulkarni M,
|
||
Shah N,
|
||
Aggarwal A,
|
||
Lashkari HP,
|
||
Krishna V,
|
||
Govindaraj G,
|
||
Kalra M,
|
||
Madkaikar M</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2019;10:23.
|
||
Epub 2019 Feb 4
|
||
doi: 10.3389/fimmu.2019.00023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30778343" target="_blank">30778343</a><a href="/pmc/articles/PMC6369708" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26769277">Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stepensky P,
|
||
Keller B,
|
||
Shamriz O,
|
||
NaserEddin A,
|
||
Rumman N,
|
||
Weintraub M,
|
||
Warnatz K,
|
||
Elpeleg O,
|
||
Barak Y</span><br />
|
||
<span class="medgenPMjournal">Clin Immunol</span>
|
||
2016 Feb;163:91-5.
|
||
Epub 2016 Jan 6
|
||
doi: 10.1016/j.clim.2016.01.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26769277" target="_blank">26769277</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21732012">Severe combined immunodeficiency in Greek children over a 20-year period: rarity of γc-chain deficiency (X-linked) type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Michos A,
|
||
Tzanoudaki M,
|
||
Villa A,
|
||
Giliani S,
|
||
Chrousos G,
|
||
Kanariou M</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2011 Oct;31(5):778-83.
|
||
Epub 2011 Jul 6
|
||
doi: 10.1007/s10875-011-9564-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21732012" target="_blank">21732012</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11260071">Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gilmour KC,
|
||
Cranston T,
|
||
Loughlin S,
|
||
Gwyther J,
|
||
Lester T,
|
||
Espanol T,
|
||
Hernandez M,
|
||
Savoldi G,
|
||
Davies EG,
|
||
Abinun M,
|
||
Kinnon C,
|
||
Jones A,
|
||
Gaspar HB</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2001 Mar;112(3):671-6.
|
||
doi: 10.1046/j.1365-2141.2001.02578.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11260071" target="_blank">11260071</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22T-B%2B%20severe%20combined%20immunodeficiency%20due%20to%20JAK3%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 (8)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<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/33040328">Whole-exome sequencing of T(-) B(+) severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El Hawary R,
|
||
Meshaal S,
|
||
Mauracher AA,
|
||
Opitz L,
|
||
Abd Elaziz D,
|
||
Lotfy S,
|
||
Eldash A,
|
||
Boutros J,
|
||
Galal N,
|
||
Pachlopnik Schmid J,
|
||
Elmarsafy A</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Immunol</span>
|
||
2021 Mar;203(3):448-457.
|
||
Epub 2020 Nov 2
|
||
doi: 10.1111/cei.13536.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33040328" target="_blank">33040328</a><a href="/pmc/articles/PMC7874839" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30778343">Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aluri J,
|
||
Desai M,
|
||
Gupta M,
|
||
Dalvi A,
|
||
Terance A,
|
||
Rosenzweig SD,
|
||
Stoddard JL,
|
||
Niemela JE,
|
||
Tamankar V,
|
||
Mhatre S,
|
||
Bargir U,
|
||
Kulkarni M,
|
||
Shah N,
|
||
Aggarwal A,
|
||
Lashkari HP,
|
||
Krishna V,
|
||
Govindaraj G,
|
||
Kalra M,
|
||
Madkaikar M</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2019;10:23.
|
||
Epub 2019 Feb 4
|
||
doi: 10.3389/fimmu.2019.00023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30778343" target="_blank">30778343</a><a href="/pmc/articles/PMC6369708" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21732012">Severe combined immunodeficiency in Greek children over a 20-year period: rarity of γc-chain deficiency (X-linked) type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Michos A,
|
||
Tzanoudaki M,
|
||
Villa A,
|
||
Giliani S,
|
||
Chrousos G,
|
||
Kanariou M</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2011 Oct;31(5):778-83.
|
||
Epub 2011 Jul 6
|
||
doi: 10.1007/s10875-011-9564-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21732012" target="_blank">21732012</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11668610">Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Notarangelo LD,
|
||
Mella P,
|
||
Jones A,
|
||
de Saint Basile G,
|
||
Savoldi G,
|
||
Cranston T,
|
||
Vihinen M,
|
||
Schumacher RF</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2001 Oct;18(4):255-63.
|
||
doi: 10.1002/humu.1188.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11668610" target="_blank">11668610</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22T-B%2B%20severe%20combined%20immunodeficiency%20due%20to%20JAK3%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 (13)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36466884">Case Report: Mutations in JAK3 causing severe combined immunodeficiency complicated by disseminated Bacille Calmette-Guérin disease and Pneumocystis pneumonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pan Y,
|
||
Pan H,
|
||
Lian C,
|
||
Wu B,
|
||
Lin J,
|
||
Huang G,
|
||
Cui B</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2022;13:1055607.
|
||
Epub 2022 Nov 17
|
||
doi: 10.3389/fimmu.2022.1055607.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36466884" target="_blank">36466884</a><a href="/pmc/articles/PMC9712176" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22T-B%2B%20severe%20combined%20immunodeficiency%20due%20to%20JAK3%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<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/21732012">Severe combined immunodeficiency in Greek children over a 20-year period: rarity of γc-chain deficiency (X-linked) type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Michos A,
|
||
Tzanoudaki M,
|
||
Villa A,
|
||
Giliani S,
|
||
Chrousos G,
|
||
Kanariou M</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2011 Oct;31(5):778-83.
|
||
Epub 2011 Jul 6
|
||
doi: 10.1007/s10875-011-9564-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21732012" target="_blank">21732012</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11781709">Unexpected and variable phenotypes in a family with JAK3 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frucht DM,
|
||
Gadina M,
|
||
Jagadeesh GJ,
|
||
Aksentijevich I,
|
||
Takada K,
|
||
Bleesing JJ,
|
||
Nelson J,
|
||
Muul LM,
|
||
Perham G,
|
||
Morgan G,
|
||
Gerritsen EJ,
|
||
Schumacher RF,
|
||
Mella P,
|
||
Veys PA,
|
||
Fleisher TA,
|
||
Kaminski ER,
|
||
Notarangelo LD,
|
||
O'Shea JJ,
|
||
Candotti F</span><br />
|
||
<span class="medgenPMjournal">Genes Immun</span>
|
||
2001 Dec;2(8):422-32.
|
||
doi: 10.1038/sj.gene.6363802.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11781709" target="_blank">11781709</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22T-B%2B%20severe%20combined%20immunodeficiency%20due%20to%20JAK3%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30778343">Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aluri J,
|
||
Desai M,
|
||
Gupta M,
|
||
Dalvi A,
|
||
Terance A,
|
||
Rosenzweig SD,
|
||
Stoddard JL,
|
||
Niemela JE,
|
||
Tamankar V,
|
||
Mhatre S,
|
||
Bargir U,
|
||
Kulkarni M,
|
||
Shah N,
|
||
Aggarwal A,
|
||
Lashkari HP,
|
||
Krishna V,
|
||
Govindaraj G,
|
||
Kalra M,
|
||
Madkaikar M</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2019;10:23.
|
||
Epub 2019 Feb 4
|
||
doi: 10.3389/fimmu.2019.00023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30778343" target="_blank">30778343</a><a href="/pmc/articles/PMC6369708" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11781709">Unexpected and variable phenotypes in a family with JAK3 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frucht DM,
|
||
Gadina M,
|
||
Jagadeesh GJ,
|
||
Aksentijevich I,
|
||
Takada K,
|
||
Bleesing JJ,
|
||
Nelson J,
|
||
Muul LM,
|
||
Perham G,
|
||
Morgan G,
|
||
Gerritsen EJ,
|
||
Schumacher RF,
|
||
Mella P,
|
||
Veys PA,
|
||
Fleisher TA,
|
||
Kaminski ER,
|
||
Notarangelo LD,
|
||
O'Shea JJ,
|
||
Candotti F</span><br />
|
||
<span class="medgenPMjournal">Genes Immun</span>
|
||
2001 Dec;2(8):422-32.
|
||
doi: 10.1038/sj.gene.6363802.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11781709" target="_blank">11781709</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9446656">Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinase.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brugnoni D,
|
||
Notarangelo LD,
|
||
Sottini A,
|
||
Airò P,
|
||
Pennacchio M,
|
||
Mazzolari E,
|
||
Signorini S,
|
||
Candotti F,
|
||
Villa A,
|
||
Mella P,
|
||
Vezzoni P,
|
||
Cattaneo R,
|
||
Ugazio AG,
|
||
Imberti L</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
1998 Feb 1;91(3):949-55.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9446656" target="_blank">9446656</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22T-B%2B%20severe%20combined%20immunodeficiency%20due%20to%20JAK3%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 (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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</div>
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<div class=" bottom">
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</div>
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</div>
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</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>
|
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<div class="portlet_content ln"><ul id="my-toc"></ul></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=C1833275%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C1833275%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C1833275%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (24)</a></li>
|
||
<li><a href="/gtr/tests?term=C1833275%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1833275%5bDISCUI%5d" target="_blank">See all (33)</a></total></li>
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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=600802" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=35078" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=T-B%20%20severe%20combined%20immunodeficiency%20due%20to%20JAK3%20deficiency" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(t-b%2B%20severe%20combined%20immunodeficiency%20due%20to%20jak3%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>
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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=600173" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3718[geneid]" target="_blank">View JAK3 variations in ClinVar</a></li><li><a href="/nuccore/163965398" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=600802" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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|
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|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca7cc1a68b6b5afcf35d85">T-B+ severe combined immunodeficiency due to JAK3 deficiency</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ca7cbf84f3725e59bb8dd9">C3150649[trait identifier] AND "Labcorp Genetics (formerly Invita... <span class="number">(421)</span></a>
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