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<meta name="keywords" content="C4015195, bcl10, bcl10 primary immunodeficiency disease, combined immunodeficiency due to bcl10 deficiency, disease or syndrome, imd37, immunodeficiency 37, immunodeficiency type 37, primary immunodeficiency disease caused by mutation in bcl10, 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="Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=863632
|
||
ConceptID=C4015195
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Immunodeficiency 37<span class="h1sub">(IMD37)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863632</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:">C4015195</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>IMD37</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="BCL10 - ID: 8915 - NCBI Gene" href="/gene/8915" class="medgenPMinfo">BCL10</a> (1p22.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014491" target="_blank">MONDO:0014491</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/616098" target="_blank">616098</a></td></tr>
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||
</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>
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||
<div class="portlet_content ln">Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
||
</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_40385"><div><strong>Colitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40385</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.">C0009319</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ulcerative colitis is a chronic disorder that affects the digestive system. This condition is characterized by abnormal inflammation of the inner surface (epithelium) of the rectum and colon. The rectum and colon make up most of the length of the large intestine. The inflammation usually causes open sores (ulcers) to develop in the large intestine. Ulcerative colitis usually appears between the age of 15 and 30, although it can develop at any age. The inflammation tends to flare up multiple times throughout a person's life, which causes recurring signs and symptoms.\n\nThe most common symptoms of ulcerative colitis are cramping abdominal pain and frequent diarrhea, often with blood, pus, or mucus in the stool. Other signs and symptoms include nausea, loss of appetite, bowel urgency, fatigue, and fevers. Chronic bleeding from the inflamed and ulcerated intestinal tissue can cause a shortage of red blood cells (anemia) in some affected individuals. People with this disorder have difficulty absorbing enough fluids and nutrients from their diet and often experience weight loss. Affected children usually grow more slowly than normal. Less commonly, ulcerative colitis causes problems with the skin, joints, eyes, kidneys, or liver, which are most likely due to abnormal inflammation.\n\nToxic megacolon is a rare complication of ulcerative colitis that can be life-threatening. Toxic megacolon involves a widening (dilation) of the colon and an overwhelming inflammatory response. Ulcerative colitis also increases the risk of developing colon cancer, especially in people whose entire colon is inflamed and in those who have had ulcerative colitis for 8 years or more.\n\nUlcerative colitis is one common form of inflammatory bowel disease (IBD). Another type of IBD, Crohn's disease, also causes chronic inflammation of the intestines. Unlike ulcerative colitis, which affects only the inner surface of the large intestine, Crohn's disease can cause inflammation in any part of the digestive system, and the inflammation extends deeper into the intestinal tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/40385">Feature record</a> | <a href="/medgen?term=%22Colitis%22%5BClinical%20Features%5D%20OR%2040385%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11586"><div><strong>Status epilepticus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11586</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.">C0038220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11586">Feature record</a> | <a href="/medgen?term=%22Status%20epilepticus%22%5BClinical%20Features%5D%20OR%2011586%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_65998"><div><strong>Recurrent infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65998</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.">C0239998</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65998">Feature record</a> | <a href="/medgen?term=%22Recurrent%20infections%22%5BClinical%20Features%5D%20OR%2065998%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108917"><div><strong>Infectious encephalitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108917</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.">C0596773</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108917">Feature record</a> | <a href="/medgen?term=%22Infectious%20encephalitis%22%5BClinical%20Features%5D%20OR%20108917%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892481"><div><strong>Decreased circulating antibody concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892481</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.">C4048270</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased level of immunoglobulin in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892481">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20antibody%20concentration%22%5BClinical%20Features%5D%20OR%20892481%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1697420"><div><strong>Decreased proportion of central memory CD4-positive, alpha-beta T cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1697420</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.">C5139549</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1697420">Feature record</a> | <a href="/medgen?term=%22Decreased%20proportion%20of%20central%20memory%20CD4-positive%2C%20alpha-beta%20T%20cells%22%5BClinical%20Features%5D%20OR%201697420%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_40385" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Colitis</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_892481" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating antibody concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1697420" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased proportion of central memory CD4-positive, alpha-beta T cells</a></span></li><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_108917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infectious encephalitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65998" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent infections</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Status epilepticus</a></span></li></ul></li></ul></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/37815806">"The Path That Ends AIDS": National and International Politics in Conflict with Treatment and Prevention Science.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laurence J</span><br />
|
||
<span class="medgenPMjournal">AIDS Patient Care STDS</span>
|
||
2023 Nov;37(11):505-506.
|
||
Epub 2023 Oct 9
|
||
doi: 10.1089/apc.2023.29020.com.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37815806" target="_blank">37815806</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28353166">Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jyonouchi S,
|
||
Jongco AM,
|
||
Puck J,
|
||
Sullivan KE</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2017 May;37(4):363-374.
|
||
Epub 2017 Mar 28
|
||
doi: 10.1007/s10875-017-0388-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28353166" target="_blank">28353166</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26320113">2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Heart and Lung Transplantation (ISHLT).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galiè N,
|
||
Humbert M,
|
||
Vachiery JL,
|
||
Gibbs S,
|
||
Lang I,
|
||
Torbicki A,
|
||
Simonneau G,
|
||
Peacock A,
|
||
Vonk Noordegraaf A,
|
||
Beghetti M,
|
||
Ghofrani A,
|
||
Gomez Sanchez MA,
|
||
Hansmann G,
|
||
Klepetko W,
|
||
Lancellotti P,
|
||
Matucci M,
|
||
McDonagh T,
|
||
Pierard LA,
|
||
Trindade PT,
|
||
Zompatori M,
|
||
Hoeper M;
|
||
ESC Scientific Document Group</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2016 Jan 1;37(1):67-119.
|
||
Epub 2015 Aug 29
|
||
doi: 10.1093/eurheartj/ehv317.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26320113" target="_blank">26320113</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(immunodeficiency%2037)%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 (1341)</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/38299802">Evolving mechanisms and presentations of cardiovascular disease in people with HIV: implications for management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nazari I,
|
||
Feinstein MJ</span><br />
|
||
<span class="medgenPMjournal">Clin Microbiol Rev</span>
|
||
2024 Mar 14;37(1):e0009822.
|
||
Epub 2024 Feb 1
|
||
doi: 10.1128/cmr.00098-22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38299802" target="_blank">38299802</a><a href="/pmc/articles/PMC10938901" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36228738">Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leiding JW,
|
||
Vogel TP,
|
||
Santarlas VGJ,
|
||
Mhaskar R,
|
||
Smith MR,
|
||
Carisey A,
|
||
Vargas-Hernández A,
|
||
Silva-Carmona M,
|
||
Heeg M,
|
||
Rensing-Ehl A,
|
||
Neven B,
|
||
Hadjadj J,
|
||
Hambleton S,
|
||
Ronan Leahy T,
|
||
Meesilpavikai K,
|
||
Cunningham-Rundles C,
|
||
Dutmer CM,
|
||
Sharapova SO,
|
||
Taskinen M,
|
||
Chua I,
|
||
Hague R,
|
||
Klemann C,
|
||
Kostyuchenko L,
|
||
Morio T,
|
||
Thatayatikom A,
|
||
Ozen A,
|
||
Scherbina A,
|
||
Bauer CS,
|
||
Flanagan SE,
|
||
Gambineri E,
|
||
Giovannini-Chami L,
|
||
Heimall J,
|
||
Sullivan KE,
|
||
Allenspach E,
|
||
Romberg N,
|
||
Deane SG,
|
||
Prince BT,
|
||
Rose MJ,
|
||
Bohnsack J,
|
||
Mousallem T,
|
||
Jesudas R,
|
||
Santos Vilela MMD,
|
||
O'Sullivan M,
|
||
Pachlopnik Schmid J,
|
||
Průhová Š,
|
||
Klocperk A,
|
||
Rees M,
|
||
Su H,
|
||
Bahna S,
|
||
Baris S,
|
||
Bartnikas LM,
|
||
Chang Berger A,
|
||
Briggs TA,
|
||
Brothers S,
|
||
Bundy V,
|
||
Chan AY,
|
||
Chandrakasan S,
|
||
Christiansen M,
|
||
Cole T,
|
||
Cook MC,
|
||
Desai MM,
|
||
Fischer U,
|
||
Fulcher DA,
|
||
Gallo S,
|
||
Gauthier A,
|
||
Gennery AR,
|
||
Gonçalo Marques J,
|
||
Gottrand F,
|
||
Grimbacher B,
|
||
Grunebaum E,
|
||
Haapaniemi E,
|
||
Hämäläinen S,
|
||
Heiskanen K,
|
||
Heiskanen-Kosma T,
|
||
Hoffman HM,
|
||
Gonzalez-Granado LI,
|
||
Guerrerio AL,
|
||
Kainulainen L,
|
||
Kumar A,
|
||
Lawrence MG,
|
||
Levin C,
|
||
Martelius T,
|
||
Neth O,
|
||
Olbrich P,
|
||
Palma A,
|
||
Patel NC,
|
||
Pozos T,
|
||
Preece K,
|
||
Lugo Reyes SO,
|
||
Russell MA,
|
||
Schejter Y,
|
||
Seroogy C,
|
||
Sinclair J,
|
||
Skevofilax E,
|
||
Suan D,
|
||
Suez D,
|
||
Szabolcs P,
|
||
Velasco H,
|
||
Warnatz K,
|
||
Walkovich K,
|
||
Worth A;
|
||
STAT3 GOF Working Group members,
|
||
Seppänen MRJ,
|
||
Torgerson TR,
|
||
Sogkas G,
|
||
Ehl S,
|
||
Tangye SG,
|
||
Cooper MA,
|
||
Milner JD,
|
||
Forbes Satter LR</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2023 Apr;151(4):1081-1095.
|
||
Epub 2022 Oct 11
|
||
doi: 10.1016/j.jaci.2022.09.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36228738" target="_blank">36228738</a><a href="/pmc/articles/PMC10081938" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26974306">Critical Care in Human Immunodeficiency Virus-Infected Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akgün KM,
|
||
Miller RF</span><br />
|
||
<span class="medgenPMjournal">Semin Respir Crit Care Med</span>
|
||
2016 Apr;37(2):303-17.
|
||
Epub 2016 Mar 14
|
||
doi: 10.1055/s-0036-1572561.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26974306" target="_blank">26974306</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27188527">HIV infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deeks SG,
|
||
Overbaugh J,
|
||
Phillips A,
|
||
Buchbinder S</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2015 Oct 1;1:15035.
|
||
doi: 10.1038/nrdp.2015.35.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27188527" target="_blank">27188527</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3069166">A review of HIV-1 in Africa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ronald AR,
|
||
Ndinya-Achola JO,
|
||
Plummer FA,
|
||
Simonsen JN,
|
||
Cameron DW,
|
||
Ngugi EN,
|
||
Pamba H</span><br />
|
||
<span class="medgenPMjournal">Bull N Y Acad Med</span>
|
||
1988 Jul-Aug;64(6):480-90.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3069166" target="_blank">3069166</a><a href="/pmc/articles/PMC1630576" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2037%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 (11725)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36228738">Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leiding JW,
|
||
Vogel TP,
|
||
Santarlas VGJ,
|
||
Mhaskar R,
|
||
Smith MR,
|
||
Carisey A,
|
||
Vargas-Hernández A,
|
||
Silva-Carmona M,
|
||
Heeg M,
|
||
Rensing-Ehl A,
|
||
Neven B,
|
||
Hadjadj J,
|
||
Hambleton S,
|
||
Ronan Leahy T,
|
||
Meesilpavikai K,
|
||
Cunningham-Rundles C,
|
||
Dutmer CM,
|
||
Sharapova SO,
|
||
Taskinen M,
|
||
Chua I,
|
||
Hague R,
|
||
Klemann C,
|
||
Kostyuchenko L,
|
||
Morio T,
|
||
Thatayatikom A,
|
||
Ozen A,
|
||
Scherbina A,
|
||
Bauer CS,
|
||
Flanagan SE,
|
||
Gambineri E,
|
||
Giovannini-Chami L,
|
||
Heimall J,
|
||
Sullivan KE,
|
||
Allenspach E,
|
||
Romberg N,
|
||
Deane SG,
|
||
Prince BT,
|
||
Rose MJ,
|
||
Bohnsack J,
|
||
Mousallem T,
|
||
Jesudas R,
|
||
Santos Vilela MMD,
|
||
O'Sullivan M,
|
||
Pachlopnik Schmid J,
|
||
Průhová Š,
|
||
Klocperk A,
|
||
Rees M,
|
||
Su H,
|
||
Bahna S,
|
||
Baris S,
|
||
Bartnikas LM,
|
||
Chang Berger A,
|
||
Briggs TA,
|
||
Brothers S,
|
||
Bundy V,
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Chandrakasan S,
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Fischer U,
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Gallo S,
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Gauthier A,
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Gennery AR,
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Gonçalo Marques J,
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Gottrand F,
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Grimbacher B,
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Grunebaum E,
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Haapaniemi E,
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Hämäläinen S,
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Heiskanen-Kosma T,
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Hoffman HM,
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Gonzalez-Granado LI,
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Guerrerio AL,
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Kainulainen L,
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Levin C,
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Neth O,
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Palma A,
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Patel NC,
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Pozos T,
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Preece K,
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Lugo Reyes SO,
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Russell MA,
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Schejter Y,
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Seroogy C,
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Suez D,
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Velasco H,
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Warnatz K,
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Seppänen MRJ,
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Torgerson TR,
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Sogkas G,
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Ehl S,
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|
||
<span class="bold">PMID: </span><a href="/pubmed/36228738" target="_blank">36228738</a><a href="/pmc/articles/PMC10081938" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27893166">The association between parental consanguinity and primary immunodeficiency diseases: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hadizadeh H,
|
||
Salehi M,
|
||
Khoramnejad S,
|
||
Vosoughi K,
|
||
Rezaei N</span><br />
|
||
<span class="medgenPMjournal">Pediatr Allergy Immunol</span>
|
||
2017 May;28(3):280-287.
|
||
Epub 2017 Feb 22
|
||
doi: 10.1111/pai.12685.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27893166" target="_blank">27893166</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2037%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 (5780)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37498645">Safety and Efficacy of Long-Acting Injectable Agents for HIV-1: Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang W,
|
||
Zhao S,
|
||
Wu Y,
|
||
Duan W,
|
||
Li S,
|
||
Li Z,
|
||
Guo C,
|
||
Wang W,
|
||
Zhang T,
|
||
Wu H,
|
||
Huang X</span><br />
|
||
<span class="medgenPMjournal">JMIR Public Health Surveill</span>
|
||
2023 Jul 27;9:e46767.
|
||
doi: 10.2196/46767.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37498645" target="_blank">37498645</a><a href="/pmc/articles/PMC10415942" 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/33212031">Estimates of the global burden of cervical cancer associated with HIV.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stelzle D,
|
||
Tanaka LF,
|
||
Lee KK,
|
||
Ibrahim Khalil A,
|
||
Baussano I,
|
||
Shah ASV,
|
||
McAllister DA,
|
||
Gottlieb SL,
|
||
Klug SJ,
|
||
Winkler AS,
|
||
Bray F,
|
||
Baggaley R,
|
||
Clifford GM,
|
||
Broutet N,
|
||
Dalal S</span><br />
|
||
<span class="medgenPMjournal">Lancet Glob Health</span>
|
||
2021 Feb;9(2):e161-e169.
|
||
Epub 2020 Nov 16
|
||
doi: 10.1016/S2214-109X(20)30459-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33212031" target="_blank">33212031</a><a href="/pmc/articles/PMC7815633" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30624309">High Global Burden and Costs of Bacterial Vaginosis: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peebles K,
|
||
Velloza J,
|
||
Balkus JE,
|
||
McClelland RS,
|
||
Barnabas RV</span><br />
|
||
<span class="medgenPMjournal">Sex Transm Dis</span>
|
||
2019 May;46(5):304-311.
|
||
doi: 10.1097/OLQ.0000000000000972.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30624309" target="_blank">30624309</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27063975">Idiopathic multicentric Castleman's disease: a systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu AY,
|
||
Nabel CS,
|
||
Finkelman BS,
|
||
Ruth JR,
|
||
Kurzrock R,
|
||
van Rhee F,
|
||
Krymskaya VP,
|
||
Kelleher D,
|
||
Rubenstein AH,
|
||
Fajgenbaum DC</span><br />
|
||
<span class="medgenPMjournal">Lancet Haematol</span>
|
||
2016 Apr;3(4):e163-75.
|
||
Epub 2016 Mar 17
|
||
doi: 10.1016/S2352-3026(16)00006-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27063975" target="_blank">27063975</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2037%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 (408)</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=C4015195%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C4015195%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C4015195%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4015195%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=616098" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Immunodeficiency%2037" 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%2037)%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%2037%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=603517" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=8915[geneid]" target="_blank">View BCL10 variations in ClinVar</a></li><li><a href="/nuccore/238018114" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=616098" 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="https://www.malacards.org/card/immunodeficiency_37" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Immunodeficiency%2037" target="_blank">MedlinePlus</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%2037" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Immunodeficiency%2037%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=863632" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=863632" ref="log$=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=C4015195[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4015195[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=863632" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=863632" ref="log$=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=863632" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=863632" ref="log$=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=863632" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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|
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<div 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">
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Turn Off
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<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">
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||
Turn On
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