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<meta name="keywords" content="C1969086, autosomal recessive hyper-ige (immunoglobulin e) syndrome due to tyk2 deficiency, autosomal recessive hyper-ige syndrome due to tyk2 deficiency, autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in tyk2, disease or syndrome, familial atypical mycobacteriosis, tyk2-related, hies with atypical mycobacteriosis, autosomal recessive, hyper-ige syndrome with atypical mycobacteriosis, autosomal recessive, imd35, immunodeficiency 35, immunodeficiency type 35, susceptibility to infection due to tyk2 deficiency, susceptibility to infection due to tyrosine kinase 2 deficiency, tyk2, tyk2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency, tyk2 deficiency, tyrosine kinase 2 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="Immunodeficiency-35 (IMD35) is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to localized or disseminated mycobacterial infection after BCG vaccination. Some patients may have increased susceptibility to infection with other intracellular organisms and/or viral infections. Fungal infections are not observed. Laboratory studies show normal levels of immune cells but defective signaling in specific immunologic pathways (summary by Kreins et al., 2015)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=409751
|
||
ConceptID=C1969086
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Immunodeficiency 35<span class="h1sub">(IMD35)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409751</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:">C1969086</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>Familial Atypical Mycobacteriosis, TYK2-Related; HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE; HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE; IMD35; Susceptibility to infection due to TYK2 deficiency; TYK2 DEFICIENCY; Tyrosine kinase 2 deficiency</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Autosomal recessive hyper-IgE (immunoglobulin E) syndrome due to TYK2 deficiency (1197415001); Susceptibility to infection due to TYK2 deficiency (1197415001); Susceptibility to infection due to tyrosine kinase 2 deficiency (1197415001)</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="TYK2 - ID: 7297 - NCBI Gene" href="/gene/7297" class="medgenPMinfo">TYK2</a> (19p13.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012682" target="_blank">MONDO:0012682</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/611521" target="_blank">611521</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=331226">ORPHA331226</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Immunodeficiency-35 (IMD35) is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to localized or disseminated mycobacterial infection after BCG vaccination. Some patients may have increased susceptibility to infection with other intracellular organisms and/or viral infections. Fungal infections are not observed. Laboratory studies show normal levels of immune cells but defective signaling in specific immunologic pathways (summary by Kreins et al., 2015). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
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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>
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||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<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_7034"><div><strong>Immunodeficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7034</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.">C0021051</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7034">Feature record</a> | <a href="/medgen?term=%22Immunodeficiency%22%5BClinical%20Features%5D%20OR%207034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116018"><div><strong>Increased circulating IgE concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116018</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0236175</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased overall level of immunoglobulin E in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116018">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20IgE%20concentration%22%5BClinical%20Features%5D%20OR%20116018%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332357"><div><strong>Recurrent viral infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332357</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.">C1837066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332357">Feature record</a> | <a href="/medgen?term=%22Recurrent%20viral%20infections%22%5BClinical%20Features%5D%20OR%20332357%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336166"><div><strong>Recurrent fungal infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336166</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.">C1844384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336166">Feature record</a> | <a href="/medgen?term=%22Recurrent%20fungal%20infections%22%5BClinical%20Features%5D%20OR%20336166%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869021"><div><strong>Recurrent mycobacterial infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869021</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.">C4023438</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869021">Feature record</a> | <a href="/medgen?term=%22Recurrent%20mycobacterial%20infections%22%5BClinical%20Features%5D%20OR%20869021%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116018" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating IgE concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent fungal infections</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869021" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent mycobacterial infections</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332357" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent viral infections</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></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=C1969086[DISCUI]&test_type=Clinical" ref="ncbi_uid=409751">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=409751" target="_blank" href="/omim/176941">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=409751" ref="ncbi_uid=409751">V</a></span></span><span class="TLline">Immunodeficiency 35</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842777" ref="tree=MeSH" title="MedGen record for Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency">Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency</a></span><ul><li><span class="matched_ds">Immunodeficiency 35</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=22001&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Immunodeficiency 35</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/38297406">International Anal Neoplasia Society's consensus guidelines for anal cancer screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stier EA,
|
||
Clarke MA,
|
||
Deshmukh AA,
|
||
Wentzensen N,
|
||
Liu Y,
|
||
Poynten IM,
|
||
Cavallari EN,
|
||
Fink V,
|
||
Barroso LF,
|
||
Clifford GM,
|
||
Cuming T,
|
||
Goldstone SE,
|
||
Hillman RJ,
|
||
Rosa-Cunha I,
|
||
La Rosa L,
|
||
Palefsky JM,
|
||
Plotzker R,
|
||
Roberts JM,
|
||
Jay N</span><br />
|
||
<span class="medgenPMjournal">Int J Cancer</span>
|
||
2024 May 15;154(10):1694-1702.
|
||
Epub 2024 Jan 31
|
||
doi: 10.1002/ijc.34850.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38297406" target="_blank">38297406</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36107594">Diagnosis and treatment of tuberculosis in adults with HIV.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang Q,
|
||
Han J,
|
||
Shen J,
|
||
Peng X,
|
||
Zhou L,
|
||
Yin X</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2022 Sep 2;101(35):e30405.
|
||
doi: 10.1097/MD.0000000000030405.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36107594" target="_blank">36107594</a><a href="/pmc/articles/PMC9439776" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23543530">Megestrol acetate for treatment of anorexia-cachexia syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruiz Garcia V,
|
||
López-Briz E,
|
||
Carbonell Sanchis R,
|
||
Gonzalvez Perales JL,
|
||
Bort-Marti S</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2013 Mar 28;2013(3):CD004310.
|
||
doi: 10.1002/14651858.CD004310.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23543530" target="_blank">23543530</a><a href="/pmc/articles/PMC6418472" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(immunodeficiency%2035)%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 (1605)</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/31185709">Association between primary immunodeficiency and asthma exacerbation in adult asthmatics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SH,
|
||
Ban GY,
|
||
Kim SC,
|
||
Chung CG,
|
||
Lee HY,
|
||
Lee JH,
|
||
Park HS</span><br />
|
||
<span class="medgenPMjournal">Korean J Intern Med</span>
|
||
2020 Mar;35(2):449-456.
|
||
Epub 2019 Jun 14
|
||
doi: 10.3904/kjim.2018.413.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31185709" target="_blank">31185709</a><a href="/pmc/articles/PMC7060996" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31263866">The NEW ESID online database network.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scheible R,
|
||
Rusch S,
|
||
Guzman D,
|
||
Mahlaoui N,
|
||
Ehl S,
|
||
Kindle G</span><br />
|
||
<span class="medgenPMjournal">Bioinformatics</span>
|
||
2019 Dec 15;35(24):5367-5369.
|
||
doi: 10.1093/bioinformatics/btz525.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31263866" target="_blank">31263866</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26971790">Rheumatologic manifestations of primary immunodeficiency diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dimitriades VR,
|
||
Sorensen R</span><br />
|
||
<span class="medgenPMjournal">Clin Rheumatol</span>
|
||
2016 Apr;35(4):843-50.
|
||
Epub 2016 Mar 14
|
||
doi: 10.1007/s10067-016-3229-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26971790" target="_blank">26971790</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26454318">Primary Immunodeficiency Masquerading as Allergic Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan SK,
|
||
Gelfand EW</span><br />
|
||
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
|
||
2015 Nov;35(4):767-78.
|
||
Epub 2015 Sep 4
|
||
doi: 10.1016/j.iac.2015.07.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26454318" target="_blank">26454318</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26454311">Common Variable Immunodeficiency: Diagnosis, Management, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abbott JK,
|
||
Gelfand EW</span><br />
|
||
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
|
||
2015 Nov;35(4):637-58.
|
||
Epub 2015 Sep 4
|
||
doi: 10.1016/j.iac.2015.07.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26454311" target="_blank">26454311</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2035%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 (13769)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26454318">Primary Immunodeficiency Masquerading as Allergic Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan SK,
|
||
Gelfand EW</span><br />
|
||
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
|
||
2015 Nov;35(4):767-78.
|
||
Epub 2015 Sep 4
|
||
doi: 10.1016/j.iac.2015.07.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26454318" target="_blank">26454318</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26454313">Severe Combined Immunodeficiency Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chinn IK,
|
||
Shearer WT</span><br />
|
||
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
|
||
2015 Nov;35(4):671-94.
|
||
doi: 10.1016/j.iac.2015.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26454313" target="_blank">26454313</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26454312">Specific Antibody Deficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wall LA,
|
||
Dimitriades VR,
|
||
Sorensen RU</span><br />
|
||
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
|
||
2015 Nov;35(4):659-70.
|
||
Epub 2015 Aug 25
|
||
doi: 10.1016/j.iac.2015.07.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26454312" target="_blank">26454312</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26454311">Common Variable Immunodeficiency: Diagnosis, Management, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abbott JK,
|
||
Gelfand EW</span><br />
|
||
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
|
||
2015 Nov;35(4):637-58.
|
||
Epub 2015 Sep 4
|
||
doi: 10.1016/j.iac.2015.07.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26454311" target="_blank">26454311</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26454309">Overview of Immunodeficiency Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raje N,
|
||
Dinakar C</span><br />
|
||
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
|
||
2015 Nov;35(4):599-623.
|
||
Epub 2015 Aug 25
|
||
doi: 10.1016/j.iac.2015.07.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26454309" target="_blank">26454309</a><a href="/pmc/articles/PMC4600970" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2035%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 (7618)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38628675">The Question of HIV Vaccine: Why Is a Solution Not Yet Available?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Libera M,
|
||
Caputo V,
|
||
Laterza G,
|
||
Moudoud L,
|
||
Soggiu A,
|
||
Bonizzi L,
|
||
Diotti RA</span><br />
|
||
<span class="medgenPMjournal">J Immunol Res</span>
|
||
2024;2024:2147912.
|
||
Epub 2024 Apr 8
|
||
doi: 10.1155/2024/2147912.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38628675" target="_blank">38628675</a><a href="/pmc/articles/PMC11019575" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30099743">HIV/AIDS Vaccines: 2018.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robinson HL</span><br />
|
||
<span class="medgenPMjournal">Clin Pharmacol Ther</span>
|
||
2018 Dec;104(6):1062-1073.
|
||
Epub 2018 Oct 9
|
||
doi: 10.1002/cpt.1208.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30099743" target="_blank">30099743</a><a href="/pmc/articles/PMC6282490" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28870107">Safety and efficacy of cladribine tablets in patients with relapsing-remitting multiple sclerosis: Results from the randomized extension trial of the CLARITY study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giovannoni G,
|
||
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|
||
Yu C,
|
||
Yuce D,
|
||
Yunusa I,
|
||
Zadnik V,
|
||
Zare I,
|
||
Zhang ZJ,
|
||
Zoladl M,
|
||
Force LM,
|
||
Hugo FN</span><br />
|
||
<span class="medgenPMjournal">JAMA Oncol</span>
|
||
2023 Oct 1;9(10):1401-1416.
|
||
doi: 10.1001/jamaoncol.2023.2960.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37676656" target="_blank">37676656</a><a href="/pmc/articles/PMC10485745" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36408673">Treatment-related adverse events of antibody-drug conjugates in clinical trials: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu Y,
|
||
Liu K,
|
||
Wang K,
|
||
Zhu H</span><br />
|
||
<span class="medgenPMjournal">Cancer</span>
|
||
2023 Jan 15;129(2):283-295.
|
||
Epub 2022 Nov 21
|
||
doi: 10.1002/cncr.34507.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36408673" target="_blank">36408673</a><a href="/pmc/articles/PMC10099922" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29967196">Global Burden of Atherosclerotic Cardiovascular Disease in People Living With HIV: Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah ASV,
|
||
Stelzle D,
|
||
Lee KK,
|
||
Beck EJ,
|
||
Alam S,
|
||
Clifford S,
|
||
Longenecker CT,
|
||
Strachan F,
|
||
Bagchi S,
|
||
Whiteley W,
|
||
Rajagopalan S,
|
||
Kottilil S,
|
||
Nair H,
|
||
Newby DE,
|
||
McAllister DA,
|
||
Mills NL</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2018 Sep 11;138(11):1100-1112.
|
||
doi: 10.1161/CIRCULATIONAHA.117.033369.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29967196" target="_blank">29967196</a><a href="/pmc/articles/PMC6221183" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23543530">Megestrol acetate for treatment of anorexia-cachexia syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruiz Garcia V,
|
||
López-Briz E,
|
||
Carbonell Sanchis R,
|
||
Gonzalvez Perales JL,
|
||
Bort-Marti S</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2013 Mar 28;2013(3):CD004310.
|
||
doi: 10.1002/14651858.CD004310.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23543530" target="_blank">23543530</a><a href="/pmc/articles/PMC6418472" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20458757">Systematic review and meta-analysis of Saccharomyces boulardii in adult patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McFarland LV</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2010 May 14;16(18):2202-22.
|
||
doi: 10.3748/wjg.v16.i18.2202.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20458757" target="_blank">20458757</a><a href="/pmc/articles/PMC2868213" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2035%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (430)</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=C1969086%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C1969086%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C1969086%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1969086%5bDISCUI%5d" target="_blank">See all (20)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=611521" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=331226" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Immunodeficiency%2035" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(immunodeficiency%2035)%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Immunodeficiency%2035%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=176941" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=7297[geneid]" target="_blank">View TYK2 variations in ClinVar</a></li><li><a href="/nuccore/188595649" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=611521" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Tyrosine+kinase+2+deficiency/9434" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/immunodeficiency_35" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Immunodeficiency%2035" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17514/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Immunodeficiency%2035" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Immunodeficiency%2035%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=409751" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=409751" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1969086[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1969086[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=409751" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=409751" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=409751" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=409751" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=409751" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=409751" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
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|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca753e84f3725e5970fd84">Immunodeficiency 35</a>
|
||
<div class="ralinkpop offscreen_noflow">Immunodeficiency 35<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67ca753bb15b832ebc43af5a">C1969086[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ca753aa68b6b5afca95c75">C4016741[trait identifier] AND "Labcorp Genetics (formerly Invita... <span class="number">(376)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">C4016741[trait identifier] AND "Labcorp Genetics (formerly Invitae), Labcorp"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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