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<meta name="keywords" content="C3150741, antibody deficiency due to cd81 defect, cd81, cd81 common variable immunodeficiency, common variable immunodeficiency caused by mutation in cd81, cvid6, disease or syndrome, immunodeficiency, common variable, 6, immunodeficiency, common variable, type 6, 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 common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Immunodeficiency, common variable, 6 (Concept Id: C3150741)
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<!--
UID=462091
ConceptID=C3150741
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Immunodeficiency, common variable, 6<span class="h1sub">(CVID6)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462091</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)&#10;Click for more information."><span class="highlight" style="background-color:">C3150741</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>ANTIBODY DEFICIENCY DUE TO CD81 DEFECT</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="CD81 - ID: 975 - NCBI Gene" href="/gene/975" class="medgenPMinfo">CD81</a> (11p15.5)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0013286" target="_blank">MONDO:0013286</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/613496" target="_blank">613496</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_13917"><div><strong>Arthralgia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13917</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)&#10;Click for more information.">C0003862</a></dd><dt><span class="dotprefix"></span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Joint pain.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/13917">Feature record</a> | <a href="/medgen?term=%22Arthralgia%22%5BClinical%20Features%5D%20OR%2013917%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_42531"><div><strong>Hydronephrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42531</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)&#10;Click for more information.">C0020295</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Severe distention of the kidney with dilation of the renal pelvis and calices.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/42531">Feature record</a> | <a href="/medgen?term=%22Hydronephrosis%22%5BClinical%20Features%5D%20OR%2042531%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_619713"><div><strong>Nephrotic range proteinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>619713</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)&#10;Click for more information.">C0445118</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/619713">Feature record</a> | <a href="/medgen?term=%22Nephrotic%20range%20proteinuria%22%5BClinical%20Features%5D%20OR%20619713%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_633103"><div><strong>Macroscopic hematuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>633103</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)&#10;Click for more information.">C0473237</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hematuria that is visible upon inspection of the urine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/633103">Feature record</a> | <a href="/medgen?term=%22Macroscopic%20hematuria%22%5BClinical%20Features%5D%20OR%20633103%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_108156"><div><strong>Enlarged kidney</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108156</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)&#10;Click for more information.">C0542518</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal increase in the size of the kidney.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/108156">Feature record</a> | <a href="/medgen?term=%22Enlarged%20kidney%22%5BClinical%20Features%5D%20OR%20108156%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_384526"><div><strong>Stage 5 chronic kidney disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>384526</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)&#10;Click for more information.">C2316810</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/384526">Feature record</a> | <a href="/medgen?term=%22Stage%205%20chronic%20kidney%20disease%22%5BClinical%20Features%5D%20OR%20384526%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1784789"><div><strong>Mesangial Immune complex deposition</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1784789</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)&#10;Click for more information.">C5539490</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1784789">Feature record</a> | <a href="/medgen?term=%22Mesangial%20Immune%20complex%20deposition%22%5BClinical%20Features%5D%20OR%201784789%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0019209</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormally increased size of the liver.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_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)&#10;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_6616"><div><strong>Glomerulonephritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6616</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)&#10;Click for more information.">C0017658</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Inflammation of the renal glomeruli.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6616">Feature record</a> | <a href="/medgen?term=%22Glomerulonephritis%22%5BClinical%20Features%5D%20OR%206616%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_116621"><div><strong>Autoimmune thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116621</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)&#10;Click for more information.">C0242584</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/116621">Feature record</a> | <a href="/medgen?term=%22Autoimmune%20thrombocytopenia%22%5BClinical%20Features%5D%20OR%20116621%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_334943"><div><strong>Recurrent bacterial infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334943</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)&#10;Click for more information.">C1844383</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/334943">Feature record</a> | <a href="/medgen?term=%22Recurrent%20bacterial%20infections%22%5BClinical%20Features%5D%20OR%20334943%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_866762"><div><strong>Abnormal T cell count</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866762</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)&#10;Click for more information.">C4021113</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A deviation from the normal count of T cells.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/866762">Feature record</a> | <a href="/medgen?term=%22Abnormal%20T%20cell%20count%22%5BClinical%20Features%5D%20OR%20866762%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_866853"><div><strong>Abnormal B cell count</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866853</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4021208</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/866853">Feature record</a> | <a href="/medgen?term=%22Abnormal%20B%20cell%20count%22%5BClinical%20Features%5D%20OR%20866853%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_868496"><div><strong>Decreased specific pneumococcal antibody level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868496</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)&#10;Click for more information.">C4022890</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/868496">Feature record</a> | <a href="/medgen?term=%22Decreased%20specific%20pneumococcal%20antibody%20level%22%5BClinical%20Features%5D%20OR%20868496%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1685230"><div><strong>Chronic decreased circulating total IgG</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1685230</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)&#10;Click for more information.">C5139153</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1685230">Feature record</a> | <a href="/medgen?term=%22Chronic%20decreased%20circulating%20total%20IgG%22%5BClinical%20Features%5D%20OR%201685230%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1687415"><div><strong>Complete or near-complete absence of specific antibody response to tetanus vaccine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1687415</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)&#10;Click for more information.">C5139458</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1687415">Feature record</a> | <a href="/medgen?term=%22Complete%20or%20near-complete%20absence%20of%20specific%20antibody%20response%20to%20tetanus%20vaccine%22%5BClinical%20Features%5D%20OR%201687415%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_19584"><div><strong>Purpura</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19584</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)&#10;Click for more information.">C0034150</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Purpura (from Latin</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/19584">Feature record</a> | <a href="/medgen?term=%22Purpura%22%5BClinical%20Features%5D%20OR%2019584%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).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_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108156" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enlarged kidney</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydronephrosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_633103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macroscopic hematuria</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1784789" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mesangial Immune complex deposition</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_619713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrotic range proteinuria</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_384526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stage 5 chronic kidney disease</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866853" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal B cell count</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866762" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal T cell count</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116621" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune thrombocytopenia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1685230" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic decreased circulating total IgG</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1687415" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Complete or near-complete absence of specific antibody response to tetanus vaccine</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868496" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased specific pneumococcal antibody level</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glomerulonephritis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent bacterial infections</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19584" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Purpura</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_812812" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent respiratory infections</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthralgia</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0009447[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=40407">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=40407" target="_blank" href="/omim/607594">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&amp;from_uid=40407" ref="ncbi_uid=40407">V</a></span></span><span class="TLline"><a href="/medgen/40407" ref="tree=GTR&amp;ncbi_uid=40407&amp;link_uid=40407" title="View MedGen record for 'Common variable immunodeficiency'">Common variable immunodeficiency</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3553512[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=766426">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=766426" target="_blank" href="/omim/606453">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&amp;from_uid=766426" ref="ncbi_uid=766426">V</a></span></span><span class="TLline"><a href="/medgen/766426" ref="tree=GTR&amp;ncbi_uid=766426&amp;link_uid=766426" title="View MedGen record for 'Combined immunodeficiency due to LRBA deficiency'">Combined immunodeficiency due to LRBA deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5567788[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1799211">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1799211" target="_blank" href="/omim/605384">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&amp;from_uid=1799211" ref="ncbi_uid=1799211">V</a></span></span><span class="TLline"><a href="/medgen/1799211" ref="tree=GTR&amp;ncbi_uid=1799211&amp;link_uid=1799211" title="View MedGen record for 'IL21-related infantile inflammatory bowel disease'">IL21-related infantile inflammatory bowel disease</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3149378[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=460728">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=460728" target="_blank" href="/omim/604558">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&amp;from_uid=460728" ref="ncbi_uid=460728">V</a></span></span><span class="TLline"><a href="/medgen/460728" ref="tree=GTR&amp;ncbi_uid=460728&amp;link_uid=460728" title="View MedGen record for 'Immunodeficiency, common variable, 1'">Immunodeficiency, common variable, 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150354[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=461704">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=461704" target="_blank" href="/omim/240500">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&amp;from_uid=461704" ref="ncbi_uid=461704">V</a></span></span><span class="TLline"><a href="/medgen/461704" ref="tree=GTR&amp;ncbi_uid=461704&amp;link_uid=461704" title="View MedGen record for 'Immunodeficiency, common variable, 2'">Immunodeficiency, common variable, 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150738[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=462088">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462088" target="_blank" href="/omim/107265">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&amp;from_uid=462088" ref="ncbi_uid=462088">V</a></span></span><span class="TLline"><a href="/medgen/462088" ref="tree=GTR&amp;ncbi_uid=462088&amp;link_uid=462088" title="View MedGen record for 'Immunodeficiency, common variable, 3'">Immunodeficiency, common variable, 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150739[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=462089">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462089" target="_blank" href="/omim/606269">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&amp;from_uid=462089" ref="ncbi_uid=462089">V</a></span></span><span class="TLline"><a href="/medgen/462089" ref="tree=GTR&amp;ncbi_uid=462089&amp;link_uid=462089" title="View MedGen record for 'Immunodeficiency, common variable, 4'">Immunodeficiency, common variable, 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150740[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=462090">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462090" target="_blank" href="/omim/112210">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&amp;from_uid=462090" ref="ncbi_uid=462090">V</a></span></span><span class="TLline"><a href="/medgen/462090" ref="tree=GTR&amp;ncbi_uid=462090&amp;link_uid=462090" title="View MedGen record for 'Immunodeficiency, common variable, 5'">Immunodeficiency, common variable, 5</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150741[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=462091">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462091" target="_blank" href="/omim/186845">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&amp;from_uid=462091" ref="ncbi_uid=462091">V</a></span></span><span class="TLline">Immunodeficiency, common variable, 6</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3542922[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=762276">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=762276" target="_blank" href="/omim/120650">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&amp;from_uid=762276" ref="ncbi_uid=762276">V</a></span></span><span class="TLline"><a href="/medgen/762276" ref="tree=GTR&amp;ncbi_uid=762276&amp;link_uid=762276" title="View MedGen record for 'Immunodeficiency, common variable, 7'">Immunodeficiency, common variable, 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809991[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=816321">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816321" target="_blank" href="/omim/164012">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&amp;from_uid=816321" ref="ncbi_uid=816321">V</a></span></span><span class="TLline"><a href="/medgen/816321" ref="tree=GTR&amp;ncbi_uid=816321&amp;link_uid=816321" title="View MedGen record for 'Immunodeficiency, common variable, 10'">Immunodeficiency, common variable, 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225277[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=906018">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=906018" target="_blank" href="/omim/164011">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&amp;from_uid=906018" ref="ncbi_uid=906018">V</a></span></span><span class="TLline"><a href="/medgen/906018" ref="tree=GTR&amp;ncbi_uid=906018&amp;link_uid=906018" title="View MedGen record for 'Immunodeficiency, common variable, 12'">Immunodeficiency, common variable, 12</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4540380[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1614928">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1614928" target="_blank" href="/omim/615332">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&amp;from_uid=1614928" ref="ncbi_uid=1614928">V</a></span></span><span class="TLline"><a href="/medgen/1614928" ref="tree=GTR&amp;ncbi_uid=1614928&amp;link_uid=1614928" title="View MedGen record for 'Immunodeficiency, common variable, 14'">Immunodeficiency, common variable, 14</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225173[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=905078">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=905078" target="_blank" href="/omim/603023">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&amp;from_uid=905078" ref="ncbi_uid=905078">V</a></span></span><span class="TLline"><a href="/medgen/905078" ref="tree=GTR&amp;ncbi_uid=905078&amp;link_uid=905078" title="View MedGen record for 'Pancytopenia due to IKZF1 mutations'">Pancytopenia due to IKZF1 mutations</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="TLline"><a href="/medgen/14326" ref="tree=MeSH" title="MedGen record for Hereditary cancer-predisposing syndrome">Hereditary cancer-predisposing syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/40407" ref="tree=MeSH" title="MedGen record for Common variable immunodeficiency">Common variable immunodeficiency</a></span><ul><li><span class="matched_ds">Immunodeficiency, common variable, 6</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/36996348">Treatment of inflammatory complications in common variable immunodeficiency (CVID): current concepts and future perspectives.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fevang B</span><br />
<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
2023 Jun;19(6):627-638.
Epub 2023 Apr 6
doi: 10.1080/1744666X.2023.2198208.
<span class="bold">PMID: </span><a href="/pubmed/36996348" target="_blank">36996348</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36137844">AGA Clinical Practice Update on Management of Refractory Celiac Disease: Expert Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Green PHR,
Paski S,
Ko CW,
Rubio-Tapia A</span><br />
<span class="medgenPMjournal">Gastroenterology</span>
2022 Nov;163(5):1461-1469.
Epub 2022 Sep 19
doi: 10.1053/j.gastro.2022.07.086.
<span class="bold">PMID: </span><a href="/pubmed/36137844" target="_blank">36137844</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29729943">Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schwab C,
Gabrysch A,
Olbrich P,
Patiño V,
Warnatz K,
Wolff D,
Hoshino A,
Kobayashi M,
Imai K,
Takagi M,
Dybedal I,
Haddock JA,
Sansom DM,
Lucena JM,
Seidl M,
Schmitt-Graeff A,
Reiser V,
Emmerich F,
Frede N,
Bulashevska A,
Salzer U,
Schubert D,
Hayakawa S,
Okada S,
Kanariou M,
Kucuk ZY,
Chapdelaine H,
Petruzelkova L,
Sumnik Z,
Sediva A,
Slatter M,
Arkwright PD,
Cant A,
Lorenz HM,
Giese T,
Lougaris V,
Plebani A,
Price C,
Sullivan KE,
Moutschen M,
Litzman J,
Freiberger T,
van de Veerdonk FL,
Recher M,
Albert MH,
Hauck F,
Seneviratne S,
Pachlopnik Schmid J,
Kolios A,
Unglik G,
Klemann C,
Speckmann C,
Ehl S,
Leichtner A,
Blumberg R,
Franke A,
Snapper S,
Zeissig S,
Cunningham-Rundles C,
Giulino-Roth L,
Elemento O,
Dückers G,
Niehues T,
Fronkova E,
Kanderová V,
Platt CD,
Chou J,
Chatila TA,
Geha R,
McDermott E,
Bunn S,
Kurzai M,
Schulz A,
Alsina L,
Casals F,
Deyà-Martinez A,
Hambleton S,
Kanegane H,
Taskén K,
Neth O,
Grimbacher B</span><br />
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
2018 Dec;142(6):1932-1946.
Epub 2018 May 4
doi: 10.1016/j.jaci.2018.02.055.
<span class="bold">PMID: </span><a href="/pubmed/29729943" target="_blank">29729943</a><a href="/pmc/articles/PMC6215742" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(immunodeficiency%2C%20common%20variable%2C%206)%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 (54)</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/31567398">Clozapine-associated secondary antibody deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ponsford MJ,
Pecoraro A,
Jolles S</span><br />
<span class="medgenPMjournal">Curr Opin Allergy Clin Immunol</span>
2019 Dec;19(6):553-562.
doi: 10.1097/ACI.0000000000000592.
<span class="bold">PMID: </span><a href="/pubmed/31567398" target="_blank">31567398</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30776527">The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Seidel MG,
Kindle G,
Gathmann B,
Quinti I,
Buckland M,
van Montfrans J,
Scheible R,
Rusch S,
Gasteiger LM,
Grimbacher B,
Mahlaoui N,
Ehl S;
ESID Registry Working Party and collaborators</span><br />
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
2019 Jul-Aug;7(6):1763-1770.
Epub 2019 Feb 15
doi: 10.1016/j.jaip.2019.02.004.
<span class="bold">PMID: </span><a href="/pubmed/30776527" target="_blank">30776527</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27060064">Systematic review of case reports of antiphospholipid syndrome following infection.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abdel-Wahab N,
Lopez-Olivo MA,
Pinto-Patarroyo GP,
Suarez-Almazor ME</span><br />
<span class="medgenPMjournal">Lupus</span>
2016 Dec;25(14):1520-1531.
Epub 2016 Apr 7
doi: 10.1177/0961203316640912.
<span class="bold">PMID: </span><a href="/pubmed/27060064" target="_blank">27060064</a><a href="/pmc/articles/PMC7508159" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25304229">Stem cell transplantation for primary immunodeficiencies: the European experience.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cavazzana M,
Touzot F,
Moshous D,
Neven B,
Blanche S,
Fischer A</span><br />
<span class="medgenPMjournal">Curr Opin Allergy Clin Immunol</span>
2014 Dec;14(6):516-20.
doi: 10.1097/ACI.0000000000000119.
<span class="bold">PMID: </span><a href="/pubmed/25304229" target="_blank">25304229</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18981294">Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Salzer U,
Bacchelli C,
Buckridge S,
Pan-Hammarström Q,
Jennings S,
Lougaris V,
Bergbreiter A,
Hagena T,
Birmelin J,
Plebani A,
Webster AD,
Peter HH,
Suez D,
Chapel H,
McLean-Tooke A,
Spickett GP,
Anover-Sombke S,
Ochs HD,
Urschel S,
Belohradsky BH,
Ugrinovic S,
Kumararatne DS,
Lawrence TC,
Holm AM,
Franco JL,
Schulze I,
Schneider P,
Gertz EM,
Schäffer AA,
Hammarström L,
Thrasher AJ,
Gaspar HB,
Grimbacher B</span><br />
<span class="medgenPMjournal">Blood</span>
2009 Feb 26;113(9):1967-76.
Epub 2008 Nov 3
doi: 10.1182/blood-2008-02-141937.
<span class="bold">PMID: </span><a href="/pubmed/18981294" target="_blank">18981294</a><a href="/pmc/articles/PMC2651012" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2C%20common%20variable%2C%206%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 (440)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37119983">Inborn Errors of Immunity and Autoimmune Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gray PE,
David C</span><br />
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
2023 Jun;11(6):1602-1622.
Epub 2023 Apr 28
doi: 10.1016/j.jaip.2023.04.018.
<span class="bold">PMID: </span><a href="/pubmed/37119983" target="_blank">37119983</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36137844">AGA Clinical Practice Update on Management of Refractory Celiac Disease: Expert Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Green PHR,
Paski S,
Ko CW,
Rubio-Tapia A</span><br />
<span class="medgenPMjournal">Gastroenterology</span>
2022 Nov;163(5):1461-1469.
Epub 2022 Sep 19
doi: 10.1053/j.gastro.2022.07.086.
<span class="bold">PMID: </span><a href="/pubmed/36137844" target="_blank">36137844</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34304998">ShwachmanDiamond syndrome with initial features mimicking common variable immunodeficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hou JW</span><br />
<span class="medgenPMjournal">Pediatr Neonatol</span>
2021 Nov;62(6):668-669.
Epub 2021 Jul 13
doi: 10.1016/j.pedneo.2021.06.006.
<span class="bold">PMID: </span><a href="/pubmed/34304998" target="_blank">34304998</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32498782">Common Variable Immunodeficiency Enteropathy With Chronic Giardiasis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Amann SO,
Lewis JT,
Desai MA,
Lewis MD</span><br />
<span class="medgenPMjournal">Mayo Clin Proc</span>
2020 Jun;95(6):1293-1294.
doi: 10.1016/j.mayocp.2020.02.024.
<span class="bold">PMID: </span><a href="/pubmed/32498782" target="_blank">32498782</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30776527">The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Seidel MG,
Kindle G,
Gathmann B,
Quinti I,
Buckland M,
van Montfrans J,
Scheible R,
Rusch S,
Gasteiger LM,
Grimbacher B,
Mahlaoui N,
Ehl S;
ESID Registry Working Party and collaborators</span><br />
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
2019 Jul-Aug;7(6):1763-1770.
Epub 2019 Feb 15
doi: 10.1016/j.jaip.2019.02.004.
<span class="bold">PMID: </span><a href="/pubmed/30776527" target="_blank">30776527</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2C%20common%20variable%2C%206%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 (439)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/36996348">Treatment of inflammatory complications in common variable immunodeficiency (CVID): current concepts and future perspectives.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fevang B</span><br />
<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
2023 Jun;19(6):627-638.
Epub 2023 Apr 6
doi: 10.1080/1744666X.2023.2198208.
<span class="bold">PMID: </span><a href="/pubmed/36996348" target="_blank">36996348</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31567398">Clozapine-associated secondary antibody deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ponsford MJ,
Pecoraro A,
Jolles S</span><br />
<span class="medgenPMjournal">Curr Opin Allergy Clin Immunol</span>
2019 Dec;19(6):553-562.
doi: 10.1097/ACI.0000000000000592.
<span class="bold">PMID: </span><a href="/pubmed/31567398" target="_blank">31567398</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31452405">Malignancy in common variable immunodeficiency: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kiaee F,
Azizi G,
Rafiemanesh H,
Zainaldain H,
Sadaat Rizvi F,
Alizadeh M,
Jamee M,
Mohammadi S,
Habibi S,
Sharifi L,
Jadidi-Niaragh F,
Haghi S,
Yazdani R,
Abolhassani H,
Aghamohammadi A</span><br />
<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
2019 Oct;15(10):1105-1113.
Epub 2019 Sep 15
doi: 10.1080/1744666X.2019.1658523.
<span class="bold">PMID: </span><a href="/pubmed/31452405" target="_blank">31452405</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24896624">Overview of recombinant human hyaluronidase-facilitated subcutaneous infusion of IgG in primary immunodeficiencies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wasserman RL</span><br />
<span class="medgenPMjournal">Immunotherapy</span>
2014;6(5):553-67.
doi: 10.2217/imt.14.34.
<span class="bold">PMID: </span><a href="/pubmed/24896624" target="_blank">24896624</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24689528">Breaking the mould - novel diagnostic and therapeutic strategies for invasive pulmonary aspergillosis in the immune deficient patient.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Thornton CR</span><br />
<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
2014 Jun;10(6):771-80.
Epub 2014 Apr 1
doi: 10.1586/1744666X.2014.904747.
<span class="bold">PMID: </span><a href="/pubmed/24689528" target="_blank">24689528</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2C%20common%20variable%2C%206%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (234)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37119983">Inborn Errors of Immunity and Autoimmune Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gray PE,
David C</span><br />
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
2023 Jun;11(6):1602-1622.
Epub 2023 Apr 28
doi: 10.1016/j.jaip.2023.04.018.
<span class="bold">PMID: </span><a href="/pubmed/37119983" target="_blank">37119983</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36996348">Treatment of inflammatory complications in common variable immunodeficiency (CVID): current concepts and future perspectives.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fevang B</span><br />
<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
2023 Jun;19(6):627-638.
Epub 2023 Apr 6
doi: 10.1080/1744666X.2023.2198208.
<span class="bold">PMID: </span><a href="/pubmed/36996348" target="_blank">36996348</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36137844">AGA Clinical Practice Update on Management of Refractory Celiac Disease: Expert Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Green PHR,
Paski S,
Ko CW,
Rubio-Tapia A</span><br />
<span class="medgenPMjournal">Gastroenterology</span>
2022 Nov;163(5):1461-1469.
Epub 2022 Sep 19
doi: 10.1053/j.gastro.2022.07.086.
<span class="bold">PMID: </span><a href="/pubmed/36137844" target="_blank">36137844</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32278790">Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lorenzini T,
Fliegauf M,
Klammer N,
Frede N,
Proietti M,
Bulashevska A,
Camacho-Ordonez N,
Varjosalo M,
Kinnunen M,
de Vries E,
van der Meer JWM,
Ameratunga R,
Roifman CM,
Schejter YD,
Kobbe R,
Hautala T,
Atschekzei F,
Schmidt RE,
Schröder C,
Stepensky P,
Shadur B,
Pedroza LA,
van der Flier M,
Martínez-Gallo M,
Gonzalez-Granado LI,
Allende LM,
Shcherbina A,
Kuzmenko N,
Zakharova V,
Neves JF,
Svec P,
Fischer U,
Ip W,
Bartsch O,
Barış S,
Klein C,
Geha R,
Chou J,
Alosaimi M,
Weintraub L,
Boztug K,
Hirschmugl T,
Dos Santos Vilela MM,
Holzinger D,
Seidl M,
Lougaris V,
Plebani A,
Alsina L,
Piquer-Gibert M,
Deyà-Martínez A,
Slade CA,
Aghamohammadi A,
Abolhassani H,
Hammarström L,
Kuismin O,
Helminen M,
Allen HL,
Thaventhiran JE,
Freeman AF,
Cook M,
Bakhtiar S,
Christiansen M,
Cunningham-Rundles C,
Patel NC,
Rae W,
Niehues T,
Brauer N,
Syrjänen J,
Seppänen MRJ,
Burns SO,
Tuijnenburg P,
Kuijpers TW;
NIHR BioResource,
Warnatz K,
Grimbacher B;
NIHR BioResource</span><br />
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
2020 Oct;146(4):901-911.
Epub 2020 Apr 9
doi: 10.1016/j.jaci.2019.11.051.
<span class="bold">PMID: </span><a href="/pubmed/32278790" target="_blank">32278790</a><a href="/pmc/articles/PMC8246418" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28096226">Disseminated adenovirus infection causing severe ARDS.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Campbell SJ,
Kynyk JA,
Davis JA</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2017 Jan 17;2017
doi: 10.1136/bcr-2016-217524.
<span class="bold">PMID: </span><a href="/pubmed/28096226" target="_blank">28096226</a><a href="/pmc/articles/PMC5256538" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2C%20common%20variable%2C%206%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (210)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/36996348">Treatment of inflammatory complications in common variable immunodeficiency (CVID): current concepts and future perspectives.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fevang B</span><br />
<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
2023 Jun;19(6):627-638.
Epub 2023 Apr 6
doi: 10.1080/1744666X.2023.2198208.
<span class="bold">PMID: </span><a href="/pubmed/36996348" target="_blank">36996348</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34608876">Cytomegalovirus in primary immunodeficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Godsell J,
Chan S,
Slade C,
Bryant V,
Douglass JA,
Sasadeusz J,
Yong MK</span><br />
<span class="medgenPMjournal">Curr Opin Infect Dis</span>
2021 Dec 1;34(6):663-671.
doi: 10.1097/QCO.0000000000000797.
<span class="bold">PMID: </span><a href="/pubmed/34608876" target="_blank">34608876</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32278790">Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lorenzini T,
Fliegauf M,
Klammer N,
Frede N,
Proietti M,
Bulashevska A,
Camacho-Ordonez N,
Varjosalo M,
Kinnunen M,
de Vries E,
van der Meer JWM,
Ameratunga R,
Roifman CM,
Schejter YD,
Kobbe R,
Hautala T,
Atschekzei F,
Schmidt RE,
Schröder C,
Stepensky P,
Shadur B,
Pedroza LA,
van der Flier M,
Martínez-Gallo M,
Gonzalez-Granado LI,
Allende LM,
Shcherbina A,
Kuzmenko N,
Zakharova V,
Neves JF,
Svec P,
Fischer U,
Ip W,
Bartsch O,
Barış S,
Klein C,
Geha R,
Chou J,
Alosaimi M,
Weintraub L,
Boztug K,
Hirschmugl T,
Dos Santos Vilela MM,
Holzinger D,
Seidl M,
Lougaris V,
Plebani A,
Alsina L,
Piquer-Gibert M,
Deyà-Martínez A,
Slade CA,
Aghamohammadi A,
Abolhassani H,
Hammarström L,
Kuismin O,
Helminen M,
Allen HL,
Thaventhiran JE,
Freeman AF,
Cook M,
Bakhtiar S,
Christiansen M,
Cunningham-Rundles C,
Patel NC,
Rae W,
Niehues T,
Brauer N,
Syrjänen J,
Seppänen MRJ,
Burns SO,
Tuijnenburg P,
Kuijpers TW;
NIHR BioResource,
Warnatz K,
Grimbacher B;
NIHR BioResource</span><br />
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
2020 Oct;146(4):901-911.
Epub 2020 Apr 9
doi: 10.1016/j.jaci.2019.11.051.
<span class="bold">PMID: </span><a href="/pubmed/32278790" target="_blank">32278790</a><a href="/pmc/articles/PMC8246418" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27060064">Systematic review of case reports of antiphospholipid syndrome following infection.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abdel-Wahab N,
Lopez-Olivo MA,
Pinto-Patarroyo GP,
Suarez-Almazor ME</span><br />
<span class="medgenPMjournal">Lupus</span>
2016 Dec;25(14):1520-1531.
Epub 2016 Apr 7
doi: 10.1177/0961203316640912.
<span class="bold">PMID: </span><a href="/pubmed/27060064" target="_blank">27060064</a><a href="/pmc/articles/PMC7508159" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3289331">Cryptosporidiosis in perspective.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tzipori S</span><br />
<span class="medgenPMjournal">Adv Parasitol</span>
1988;27:63-129.
doi: 10.1016/s0065-308x(08)60353-x.
<span class="bold">PMID: </span><a href="/pubmed/3289331" target="_blank">3289331</a><a href="/pmc/articles/PMC7130127" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2C%20common%20variable%2C%206%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 (255)</a></div></div>
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<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/38280023">Systematic review of mortality and survival rates for APDS.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hanson J,
Bonnen PE</span><br />
<span class="medgenPMjournal">Clin Exp Med</span>
2024 Jan 27;24(1):17.
doi: 10.1007/s10238-023-01259-y.
<span class="bold">PMID: </span><a href="/pubmed/38280023" target="_blank">38280023</a><a href="/pmc/articles/PMC10821986" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33203275">Autoimmunity in common variable immunodeficiency: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rizvi FS,
Zainaldain H,
Rafiemanesh H,
Jamee M,
Hossein-Khannazer N,
Hamedifar H,
Sabzevari A,
Yazdani R,
Abolhassani H,
Aghamohammadi A,
Azizi G</span><br />
<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
2020 Dec;16(12):1227-1235.
Epub 2020 Dec 7
doi: 10.1080/1744666X.2021.1850272.
<span class="bold">PMID: </span><a href="/pubmed/33203275" target="_blank">33203275</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31452405">Malignancy in common variable immunodeficiency: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kiaee F,
Azizi G,
Rafiemanesh H,
Zainaldain H,
Sadaat Rizvi F,
Alizadeh M,
Jamee M,
Mohammadi S,
Habibi S,
Sharifi L,
Jadidi-Niaragh F,
Haghi S,
Yazdani R,
Abolhassani H,
Aghamohammadi A</span><br />
<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
2019 Oct;15(10):1105-1113.
Epub 2019 Sep 15
doi: 10.1080/1744666X.2019.1658523.
<span class="bold">PMID: </span><a href="/pubmed/31452405" target="_blank">31452405</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27187624">Primary immunodeficiency and recalcitrant chronic sinusitis: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mazza JM,
Lin SY</span><br />
<span class="medgenPMjournal">Int Forum Allergy Rhinol</span>
2016 Oct;6(10):1029-1033.
Epub 2016 May 17
doi: 10.1002/alr.21789.
<span class="bold">PMID: </span><a href="/pubmed/27187624" target="_blank">27187624</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27060064">Systematic review of case reports of antiphospholipid syndrome following infection.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abdel-Wahab N,
Lopez-Olivo MA,
Pinto-Patarroyo GP,
Suarez-Almazor ME</span><br />
<span class="medgenPMjournal">Lupus</span>
2016 Dec;25(14):1520-1531.
Epub 2016 Apr 7
doi: 10.1177/0961203316640912.
<span class="bold">PMID: </span><a href="/pubmed/27060064" target="_blank">27060064</a><a href="/pmc/articles/PMC7508159" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2C%20common%20variable%2C%206%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 (14)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3150741%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
<li><a href="/gtr/tests?term=C3150741%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (17)</a></li>
<li><a href="/gtr/tests?term=C3150741%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3150741%5bDISCUI%5d" target="_blank">See all (22)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=613496" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Immunodeficiency,%20common%20variable,%206" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<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%2C%20common%20variable%2C%206)%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%2C%20common%20variable%2C%206%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>
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<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&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=186845" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=975[geneid]" target="_blank">View CD81 variations in ClinVar</a></li><li><a href="/nuccore/300797758" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=613496" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Immunodeficiency%2C+common+variable%2C+6/8650" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/immunodeficiency_common_variable_6" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Immunodeficiency,%20common%20variable,%206" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15671/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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