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<meta name="keywords" content="C5575025, combined immunodeficiency due to zap70 deficiency, disease or syndrome, imd48, immunodeficiency 48, selective t-cell defect, severe combined immunodeficiency due to zap70 deficiency, severe combined immunodeficiency, atypical, stcd, zap-70 deficiency, zap70, zeta-associated-protein 70 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="ZAP70-related combined immunodeficiency (ZAP70-related CID) is a cell-mediated immunodeficiency caused by abnormal T-cell receptor (TCR) signaling. Affected children usually present in the first year of life with recurrent bacterial, viral, and opportunistic infections, diarrhea, and failure to thrive. Severe lower-respiratory infections and oral candidiasis are common. Affected children usually do not survive past their second year without hematopoietic stem cell transplantation (HSCT)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1809040
|
||
ConceptID=C5575025
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Combined immunodeficiency due to ZAP70 deficiency<span class="h1sub">(IMD48)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809040</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:">C5575025</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>IMD48; Immunodeficiency 48; Severe combined immunodeficiency, atypical</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="ZAP70 - ID: 7535 - NCBI Gene" href="/gene/7535" class="medgenPMinfo">ZAP70</a> (2q11.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010023" target="_blank">MONDO:0010023</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/269840" target="_blank">269840</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=911">ORPHA911</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_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK20221" target="_blank">ZAP70-Related Combined Immunodeficiency</a></div><div>ZAP70-related combined immunodeficiency (ZAP70-related CID) is a cell-mediated immunodeficiency caused by abnormal T-cell receptor (TCR) signaling. Affected children usually present in the first year of life with recurrent bacterial, viral, and opportunistic infections, diarrhea, and failure to thrive. Severe lower-respiratory infections and oral candidiasis are common. Affected children usually do not survive past their second year without hematopoietic stem cell transplantation (HSCT). [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK20221#zap70-scid.Summary" target="NBK20221">Summary</a> | <a class="medgenPMinfo" href="/books/NBK20221#zap70-scid.Diagnosis" target="NBK20221">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK20221#zap70-scid.Clinical_Characteristics" target="NBK20221">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK20221#zap70-scid.Genetically_Related_Allelic_D" target="NBK20221">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK20221#zap70-scid.Differential_Diagnosis" target="NBK20221">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK20221#zap70-scid.Management" target="NBK20221">Management</a> | <a class="medgenPMinfo" href="/books/NBK20221#zap70-scid.Genetic_Counseling" target="NBK20221">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK20221#zap70-scid.Resources" target="NBK20221">Resources</a> | <a class="medgenPMinfo" href="/books/NBK20221#zap70-scid.Molecular_Genetics" target="NBK20221">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK20221#zap70-scid.Chapter_Notes" target="NBK20221">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK20221#zap70-scid.References" target="NBK20221">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Kelly Walkovich | Mark Vander Lugt <a href="/books/NBK20221" target="NBK20221" title="NCBI Bookshelf: ZAP70-Related Combined Immunodeficiency">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system. ZAP70-related SCID is one of several forms of severe combined immunodeficiency, a group of disorders with several genetic causes. Children with SCID lack virtually all immune protection from 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 this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people. Infants with SCID typically experience pneumonia, chronic diarrhea, and widespread skin rashes. They also grow much more slowly than healthy children. If not treated in a way that restores immune function, children with SCID usually live only a year or two.<br /><br />Most individuals with ZAP70-related SCID are diagnosed in the first 6 months of life. At least one individual first showed signs of the condition later in childhood and had less severe symptoms, primarily recurrent respiratory and skin infections. <a target="_blank" href="https://medlineplus.gov/genetics/condition/zap70-related-severe-combined-immunodeficiency">https://medlineplus.gov/genetics/condition/zap70-related-severe-combined-immunodeficiency</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_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_812812"><div><strong>Recurrent respiratory infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812812</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.">C3806482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/812812">Feature record</a> | <a href="/medgen?term=%22Recurrent%20respiratory%20infections%22%5BClinical%20Features%5D%20OR%20812812%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3968"><div><strong>Eczematoid dermatitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3968</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.">C0013595</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3968">Feature record</a> | <a href="/medgen?term=%22Eczematoid%20dermatitis%22%5BClinical%20Features%5D%20OR%203968%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_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_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_348028"><div><strong>Recurrent candida infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348028</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.">C1860128</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348028">Feature record</a> | <a href="/medgen?term=%22Recurrent%20candida%20infections%22%5BClinical%20Features%5D%20OR%20348028%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866853"><div><strong>Abnormal B cell count</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866853</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.">C4021208</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866853">Feature record</a> | <a href="/medgen?term=%22Abnormal%20B%20cell%20count%22%5BClinical%20Features%5D%20OR%20866853%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870742"><div><strong>Absence of CD8-positive T cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870742</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.">C4025197</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of detectible CD8-positive T cells</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870742">Feature record</a> | <a href="/medgen?term=%22Absence%20of%20CD8-positive%20T%20cells%22%5BClinical%20Features%5D%20OR%20870742%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_994080"><div><strong>Pneumocystis carinii pneumonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>994080</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN315554</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pneumocystis carinii pneumonia is an opportunistic infection that occurs in immunosuppressed populations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/994080">Feature record</a> | <a href="/medgen?term=%22Pneumocystis%20carinii%20pneumonia%22%5BClinical%20Features%5D%20OR%20994080%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_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 immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866853" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal B cell count</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870742" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absence of CD8-positive T cells</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eczematoid dermatitis</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_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_994080" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pneumocystis carinii pneumonia</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_348028" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent candida infections</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 respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_812812" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent respiratory 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></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=C5575025[DISCUI]&test_type=Clinical" ref="ncbi_uid=1809040">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1809040" target="_blank" href="/omim/176947">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK20221/" ref="ncbi_uid=1809040">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1809040" ref="ncbi_uid=1809040">V</a></span></span><span class="TLline">Combined immunodeficiency due to ZAP70 deficiency</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842865" ref="tree=MeSH" title="MedGen record for Non-SCID combined immunodeficiency">Non-SCID combined immunodeficiency</a></span><ul><li><span class="matched_ds">Combined immunodeficiency due to ZAP70 deficiency</span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34780073">Differential diagnosis of primary immunodeficiency in patients with BCGitis and BCGosis: A single-centre study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soyak Aytekin E,
|
||
Keskin A,
|
||
Tan C,
|
||
Yalçın E,
|
||
Dogru D,
|
||
Ozcelik U,
|
||
Kiper N,
|
||
Tezcan I,
|
||
Cagdas D</span><br />
|
||
<span class="medgenPMjournal">Scand J Immunol</span>
|
||
2021 Oct;94(4):e13084.
|
||
Epub 2021 Jul 28
|
||
doi: 10.1111/sji.13084.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34780073" target="_blank">34780073</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(combined%20immunodeficiency%20due%20to%20zap70%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/34780073">Differential diagnosis of primary immunodeficiency in patients with BCGitis and BCGosis: A single-centre study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soyak Aytekin E,
|
||
Keskin A,
|
||
Tan C,
|
||
Yalçın E,
|
||
Dogru D,
|
||
Ozcelik U,
|
||
Kiper N,
|
||
Tezcan I,
|
||
Cagdas D</span><br />
|
||
<span class="medgenPMjournal">Scand J Immunol</span>
|
||
2021 Oct;94(4):e13084.
|
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Epub 2021 Jul 28
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doi: 10.1111/sji.13084.
|
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<span class="bold">PMID: </span><a href="/pubmed/34780073" target="_blank">34780073</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,
|
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Gupta M,
|
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Dalvi A,
|
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Terance A,
|
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Rosenzweig SD,
|
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Stoddard JL,
|
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Niemela JE,
|
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Tamankar V,
|
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Mhatre S,
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Bargir U,
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Kulkarni M,
|
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Shah N,
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Aggarwal A,
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Lashkari HP,
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Krishna V,
|
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Govindaraj G,
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Kalra M,
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Madkaikar M</span><br />
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<span class="medgenPMjournal">Front Immunol</span>
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Epub 2019 Feb 4
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<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>
|
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<div class="nl"><a target="_blank" href="/pubmed/27438785">Long-Term Outcomes of Hematopoietic Stem Cell Transplantation for ZAP70 Deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cuvelier GD,
|
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Rubin TS,
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Wall DA,
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Schroeder ML</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/27438785" target="_blank">27438785</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26187144">SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hauck F,
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Fischer A,
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<span class="bold">PMID: </span><a href="/pubmed/26187144" target="_blank">26187144</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22664165">Defining combined immunodeficiency.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Roifman CM,
|
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Somech R,
|
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Kavadas F,
|
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Pires L,
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Nahum A,
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Dalal I,
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Grunebaum E</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/22664165" target="_blank">22664165</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20immunodeficiency%20due%20to%20ZAP70%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 (5)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34780073">Differential diagnosis of primary immunodeficiency in patients with BCGitis and BCGosis: A single-centre study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Soyak Aytekin E,
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Keskin A,
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Tan C,
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Yalçın E,
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Dogru D,
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Ozcelik U,
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Kiper N,
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Tezcan I,
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Cagdas D</span><br />
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<span class="medgenPMjournal">Scand J Immunol</span>
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2021 Oct;94(4):e13084.
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Epub 2021 Jul 28
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doi: 10.1111/sji.13084.
|
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<span class="bold">PMID: </span><a href="/pubmed/34780073" target="_blank">34780073</a></div>
|
||
|
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<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>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Aluri J,
|
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Desai M,
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Gupta M,
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Dalvi A,
|
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Terance A,
|
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Rosenzweig SD,
|
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Stoddard JL,
|
||
Niemela JE,
|
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Tamankar V,
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Mhatre S,
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Bargir U,
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Kulkarni M,
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Shah N,
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Aggarwal A,
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Lashkari HP,
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Krishna V,
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Govindaraj G,
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Kalra M,
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Madkaikar M</span><br />
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<span class="medgenPMjournal">Front Immunol</span>
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2019;10:23.
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Epub 2019 Feb 4
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doi: 10.3389/fimmu.2019.00023.
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<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>
|
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<div class="nl"><a target="_blank" href="/pubmed/27438785">Long-Term Outcomes of Hematopoietic Stem Cell Transplantation for ZAP70 Deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cuvelier GD,
|
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Rubin TS,
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Wall DA,
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Schroeder ML</span><br />
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<span class="medgenPMjournal">J Clin Immunol</span>
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2016 Oct;36(7):713-24.
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Epub 2016 Jul 20
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doi: 10.1007/s10875-016-0316-z.
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<span class="bold">PMID: </span><a href="/pubmed/27438785" target="_blank">27438785</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/23124046">Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Karaca E,
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Karakoc-Aydiner E,
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Bayrak OF,
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Keles S,
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Sevli S,
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Barlan IB,
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Yuksel A,
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Chatila TA,
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Ozen M</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/23124046" target="_blank">23124046</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22664165">Defining combined immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roifman CM,
|
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Somech R,
|
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Kavadas F,
|
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Pires L,
|
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Nahum A,
|
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Dalal I,
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Grunebaum E</span><br />
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<span class="medgenPMjournal">J Allergy Clin Immunol</span>
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2012 Jul;130(1):177-83.
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Epub 2012 Jun 2
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doi: 10.1016/j.jaci.2012.04.029.
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<span class="bold">PMID: </span><a href="/pubmed/22664165" target="_blank">22664165</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20immunodeficiency%20due%20to%20ZAP70%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 (8)</a></div><h3 class="subhead">Therapy</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/34780073">Differential diagnosis of primary immunodeficiency in patients with BCGitis and BCGosis: A single-centre study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soyak Aytekin E,
|
||
Keskin A,
|
||
Tan C,
|
||
Yalçın E,
|
||
Dogru D,
|
||
Ozcelik U,
|
||
Kiper N,
|
||
Tezcan I,
|
||
Cagdas D</span><br />
|
||
<span class="medgenPMjournal">Scand J Immunol</span>
|
||
2021 Oct;94(4):e13084.
|
||
Epub 2021 Jul 28
|
||
doi: 10.1111/sji.13084.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34780073" target="_blank">34780073</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33484432">A novel zeta-associated protein 70 homozygous mutation causing combined immunodeficiency presenting as neonatal autoimmune hemolytic anemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ling E,
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Broides A,
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Ling G,
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Shubinsky G,
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Hadad N,
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Nahum A,
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Simon AJ,
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Lev A,
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Somech R</span><br />
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Epub 2021 Jan 23
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<span class="bold">PMID: </span><a href="/pubmed/33484432" target="_blank">33484432</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/27438785">Long-Term Outcomes of Hematopoietic Stem Cell Transplantation for ZAP70 Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cuvelier GD,
|
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Rubin TS,
|
||
Wall DA,
|
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Schroeder ML</span><br />
|
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<span class="medgenPMjournal">J Clin Immunol</span>
|
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2016 Oct;36(7):713-24.
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Epub 2016 Jul 20
|
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doi: 10.1007/s10875-016-0316-z.
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<span class="bold">PMID: </span><a href="/pubmed/27438785" target="_blank">27438785</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23124046">Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karaca E,
|
||
Karakoc-Aydiner E,
|
||
Bayrak OF,
|
||
Keles S,
|
||
Sevli S,
|
||
Barlan IB,
|
||
Yuksel A,
|
||
Chatila TA,
|
||
Ozen M</span><br />
|
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<span class="medgenPMjournal">Gene</span>
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2013 Jan 10;512(2):189-93.
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Epub 2012 Nov 2
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doi: 10.1016/j.gene.2012.10.062.
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<span class="bold">PMID: </span><a href="/pubmed/23124046" target="_blank">23124046</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/21195982">Severe axillary lymphadenitis after BCG vaccination: alert for primary immunodeficiencies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Santos A,
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Dias A,
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Cordeiro A,
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Cordinhã C,
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Lemos S,
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Rocha G,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20immunodeficiency%20due%20to%20ZAP70%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/27438785">Long-Term Outcomes of Hematopoietic Stem Cell Transplantation for ZAP70 Deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cuvelier GD,
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Rubin TS,
|
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Wall DA,
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Schroeder ML</span><br />
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<span class="medgenPMjournal">J Clin Immunol</span>
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2016 Oct;36(7):713-24.
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Epub 2016 Jul 20
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doi: 10.1007/s10875-016-0316-z.
|
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<span class="bold">PMID: </span><a href="/pubmed/27438785" target="_blank">27438785</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20immunodeficiency%20due%20to%20ZAP70%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 (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<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,
|
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Madkaikar M</span><br />
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<span class="medgenPMjournal">Front Immunol</span>
|
||
2019;10:23.
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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/30639475">ZAP70 deficiency promotes reverse cholesterol transport through MAPK/ERK pathway in Jurkat cell.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
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Guo K,
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Hu L,
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Luo T,
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Ma Y,
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Zhang Y,
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Lai W,
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Guo Z</span><br />
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<span class="medgenPMjournal">Mol Immunol</span>
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2019 Mar;107:21-28.
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Epub 2019 Jan 10
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doi: 10.1016/j.molimm.2019.01.001.
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<span class="bold">PMID: </span><a href="/pubmed/30639475" target="_blank">30639475</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/29684201">Dysregulation of Epstein-Barr Virus Infection in Hypomorphic ZAP70 Mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoshino A,
|
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Takashima T,
|
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Yoshida K,
|
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Morimoto A,
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Kawahara Y,
|
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Yeh TW,
|
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Okano T,
|
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Yamashita M,
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Mitsuiki N,
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Imai K,
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Sakatani T,
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Nakazawa A,
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Okuno Y,
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Shiraishi Y,
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Chiba K,
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Tanaka H,
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Miyano S,
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Ogawa S,
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Kojima S,
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Morio T,
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<span class="bold">PMID: </span><a href="/pubmed/29684201" target="_blank">29684201</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25049080">Insight into the therapeutic aspects of 'Zeta-Chain Associated Protein Kinase 70 kDa' inhibitors: a review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kaur M,
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Singh M,
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Silakari O</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/25049080" target="_blank">25049080</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22664165">Defining combined immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roifman CM,
|
||
Somech R,
|
||
Kavadas F,
|
||
Pires L,
|
||
Nahum A,
|
||
Dalal I,
|
||
Grunebaum E</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2012 Jul;130(1):177-83.
|
||
Epub 2012 Jun 2
|
||
doi: 10.1016/j.jaci.2012.04.029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22664165" target="_blank">22664165</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20immunodeficiency%20due%20to%20ZAP70%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 (5)</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=C5575025%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C5575025%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (19)</a></li>
|
||
<li><a href="/gtr/tests?term=C5575025%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5575025%5bDISCUI%5d" target="_blank">See all (24)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=269840" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=911" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Combined%20immunodeficiency%20due%20to%20ZAP70%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=(combined%20immunodeficiency%20due%20to%20zap70%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=176947" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=7535[geneid]" target="_blank">View ZAP70 variations in ClinVar</a></li><li><a href="/nuccore/188219623" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=269840" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Severe+combined+immunodeficiency%2C+atypical/6525" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/immunodeficiency_48" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Combined%20immunodeficiency%20due%20to%20ZAP70%20deficiency" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/zap70-related-severe-combined-immunodeficiency" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/387/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/20301777" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1809040" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb4bcbf4a390645e19e78e">Combined immunodeficiency due to ZAP70 deficiency</a>
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