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<meta name="keywords" content="C4225277, common variable immunodeficiency caused by mutation in nfkb1, cvid12, disease or syndrome, immunodeficiency, common variable, 12, immunodeficiency, common variable, 12, with autoimmunity, immunodeficiency, common variable, type 12, nfkb1, nfkb1 common variable immunodeficiency, nfkb1 deficiency, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Common variable immunodeficiency-12 with autoimmunity (CVID12) is an autosomal dominant complex immunologic disorder with multisystem involvement. CVID12 is mainly a primary immunodeficiency characterized by recurrent infections and associated with hypogammaglobulinemia. Notably, about half of patients develop autoimmune features, including cytopenia, as well as generalized inflammation and lymphoproliferation manifest as lymphadenopathy or hepatosplenomegaly. A smaller percentage of affected individuals (less than 20%) develop cancer, most commonly solid tumors, including lymphoma. Age at onset and disease severity are highly variable, even within the same family. There is also incomplete penetrance, such that mutation carriers may be asymptomatic, even if they have hypogammaglobulinemia. The gene involved, NFKB1, encodes a transcription factor that regulates the expression of target genes involved in the immune system, thus defining the phenotype as a disorder of immune dysregulation (summary by Fliegauf et al., 2015; Lorenzini et al., 2020). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=906018
|
||
ConceptID=C4225277
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Immunodeficiency, common variable, 12<span class="h1sub">(CVID12)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>906018</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:">C4225277</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CVID12; IMMUNODEFICIENCY, COMMON VARIABLE, 12, WITH AUTOIMMUNITY; NFKB1 DEFICIENCY</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="NFKB1 - ID: 4790 - NCBI Gene" href="/gene/4790" class="medgenPMinfo">NFKB1</a> (4q24)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014697" target="_blank">MONDO:0014697</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/616576" target="_blank">616576</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Common variable immunodeficiency-12 with autoimmunity (CVID12) is an autosomal dominant complex immunologic disorder with multisystem involvement. CVID12 is mainly a primary immunodeficiency characterized by recurrent infections and associated with hypogammaglobulinemia. Notably, about half of patients develop autoimmune features, including cytopenia, as well as generalized inflammation and lymphoproliferation manifest as lymphadenopathy or hepatosplenomegaly. A smaller percentage of affected individuals (less than 20%) develop cancer, most commonly solid tumors, including lymphoma. Age at onset and disease severity are highly variable, even within the same family. There is also incomplete penetrance, such that mutation carriers may be asymptomatic, even if they have hypogammaglobulinemia. The gene involved, NFKB1, encodes a transcription factor that regulates the expression of target genes involved in the immune system, thus defining the phenotype as a disorder of immune dysregulation (summary by Fliegauf et al., 2015; Lorenzini et al., 2020). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
|
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<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_42157"><div><strong>Atrophic gastritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42157</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.">C0017154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42157">Feature record</a> | <a href="/medgen?term=%22Atrophic%20gastritis%22%5BClinical%20Features%5D%20OR%2042157%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52737"><div><strong>Thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52737</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.">C0040034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the number of circulating thrombocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52737">Feature record</a> | <a href="/medgen?term=%22Thrombocytopenia%22%5BClinical%20Features%5D%20OR%2052737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14234"><div><strong>Bronchiectasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14234</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.">C0006267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14234">Feature record</a> | <a href="/medgen?term=%22Bronchiectasis%22%5BClinical%20Features%5D%20OR%2014234%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9818"><div><strong>Chronic obstructive pulmonary disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9818</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.">C0024117</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) (Silverman et al., 2002; Celedon et al., 2004).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9818">Feature record</a> | <a href="/medgen?term=%22Chronic%20obstructive%20pulmonary%20disease%22%5BClinical%20Features%5D%20OR%209818%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107919"><div><strong>Recurrent sinusitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107919</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.">C0581354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A recurrent form of sinusitis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107919">Feature record</a> | <a href="/medgen?term=%22Recurrent%20sinusitis%22%5BClinical%20Features%5D%20OR%20107919%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195802"><div><strong>Recurrent pneumonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195802</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.">C0694550</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195802">Feature record</a> | <a href="/medgen?term=%22Recurrent%20pneumonia%22%5BClinical%20Features%5D%20OR%20195802%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339549"><div><strong>Recurrent sinopulmonary infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339549</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.">C1846546</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339549">Feature record</a> | <a href="/medgen?term=%22Recurrent%20sinopulmonary%20infections%22%5BClinical%20Features%5D%20OR%20339549%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1918"><div><strong>Autoimmune hemolytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1918</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.">C0002880</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An autoimmune form of hemolytic anemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1918">Feature record</a> | <a href="/medgen?term=%22Autoimmune%20hemolytic%20anemia%22%5BClinical%20Features%5D%20OR%201918%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_377848"><div><strong>Recurrent skin infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377848</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.">C1853193</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infections of the skin that happen multiple times.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/377848">Feature record</a> | <a href="/medgen?term=%22Recurrent%20skin%20infections%22%5BClinical%20Features%5D%20OR%20377848%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_751396"><div><strong>Combined immunodeficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>751396</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.">C2711630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/751396">Feature record</a> | <a href="/medgen?term=%22Combined%20immunodeficiency%22%5BClinical%20Features%5D%20OR%20751396%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_7982"><div><strong>Alopecia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7982</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.">C0002170</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A noncongenital process of hair loss, which may progress to partial or complete baldness.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7982">Feature record</a> | <a href="/medgen?term=%22Alopecia%22%5BClinical%20Features%5D%20OR%207982%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43224"><div><strong>Pyoderma gangrenosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43224</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.">C0085652</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43224">Feature record</a> | <a href="/medgen?term=%22Pyoderma%20gangrenosum%22%5BClinical%20Features%5D%20OR%2043224%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 blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia</a></span></li></ul></li><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_42157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrophic gastritis</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_1918" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune hemolytic anemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_751396" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined immunodeficiency</a></span></li><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_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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_377848" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent skin 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_7982" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alopecia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43224" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pyoderma gangrenosum</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_14234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bronchiectasis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9818" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic obstructive pulmonary disease</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent pneumonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339549" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent sinopulmonary infections</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107919" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent sinusitis</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]&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&from_uid=40407" ref="ncbi_uid=40407">V</a></span></span><span class="TLline"><a href="/medgen/40407" ref="tree=GTR&ncbi_uid=40407&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]&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&from_uid=766426" ref="ncbi_uid=766426">V</a></span></span><span class="TLline"><a href="/medgen/766426" ref="tree=GTR&ncbi_uid=766426&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]&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&from_uid=1799211" ref="ncbi_uid=1799211">V</a></span></span><span class="TLline"><a href="/medgen/1799211" ref="tree=GTR&ncbi_uid=1799211&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]&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&from_uid=460728" ref="ncbi_uid=460728">V</a></span></span><span class="TLline"><a href="/medgen/460728" ref="tree=GTR&ncbi_uid=460728&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]&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&from_uid=461704" ref="ncbi_uid=461704">V</a></span></span><span class="TLline"><a href="/medgen/461704" ref="tree=GTR&ncbi_uid=461704&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]&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&from_uid=462088" ref="ncbi_uid=462088">V</a></span></span><span class="TLline"><a href="/medgen/462088" ref="tree=GTR&ncbi_uid=462088&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]&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&from_uid=462089" ref="ncbi_uid=462089">V</a></span></span><span class="TLline"><a href="/medgen/462089" ref="tree=GTR&ncbi_uid=462089&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]&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&from_uid=462090" ref="ncbi_uid=462090">V</a></span></span><span class="TLline"><a href="/medgen/462090" ref="tree=GTR&ncbi_uid=462090&link_uid=462090" title="View MedGen record for 'Immunodeficiency, common variable, 5'">Immunodeficiency, common variable, 5</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=C3150741[DISCUI]&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&from_uid=462091" ref="ncbi_uid=462091">V</a></span></span><span class="TLline"><a href="/medgen/462091" ref="tree=GTR&ncbi_uid=462091&link_uid=462091" title="View MedGen record for 'Immunodeficiency, common variable, 6'">Immunodeficiency, common variable, 6</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=C3542922[DISCUI]&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&from_uid=762276" ref="ncbi_uid=762276">V</a></span></span><span class="TLline"><a href="/medgen/762276" ref="tree=GTR&ncbi_uid=762276&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]&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&from_uid=816321" ref="ncbi_uid=816321">V</a></span></span><span class="TLline"><a href="/medgen/816321" ref="tree=GTR&ncbi_uid=816321&link_uid=816321" title="View MedGen record for 'Immunodeficiency, common variable, 10'">Immunodeficiency, common variable, 10</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=C4225277[DISCUI]&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&from_uid=906018" ref="ncbi_uid=906018">V</a></span></span><span class="TLline">Immunodeficiency, common variable, 12</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]&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&from_uid=1614928" ref="ncbi_uid=1614928">V</a></span></span><span class="TLline"><a href="/medgen/1614928" ref="tree=GTR&ncbi_uid=1614928&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]&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&from_uid=905078" ref="ncbi_uid=905078">V</a></span></span><span class="TLline"><a href="/medgen/905078" ref="tree=GTR&ncbi_uid=905078&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, 12</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/33936030">Treatment Strategies for GLILD in Common Variable Immunodeficiency: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lamers OAC,
|
||
Smits BM,
|
||
Leavis HL,
|
||
de Bree GJ,
|
||
Cunningham-Rundles C,
|
||
Dalm VASH,
|
||
Ho HE,
|
||
Hurst JR,
|
||
IJspeert H,
|
||
Prevaes SMPJ,
|
||
Robinson A,
|
||
van Stigt AC,
|
||
Terheggen-Lagro S,
|
||
van de Ven AAJM,
|
||
Warnatz K,
|
||
van de Wijgert JHHM,
|
||
van Montfrans J</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2021;12:606099.
|
||
Epub 2021 Apr 15
|
||
doi: 10.3389/fimmu.2021.606099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33936030" target="_blank">33936030</a><a href="/pmc/articles/PMC8086379" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32499645">Whole-genome sequencing of a sporadic primary immunodeficiency cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thaventhiran JED,
|
||
Lango Allen H,
|
||
Burren OS,
|
||
Rae W,
|
||
Greene D,
|
||
Staples E,
|
||
Zhang Z,
|
||
Farmery JHR,
|
||
Simeoni I,
|
||
Rivers E,
|
||
Maimaris J,
|
||
Penkett CJ,
|
||
Stephens J,
|
||
Deevi SVV,
|
||
Sanchis-Juan A,
|
||
Gleadall NS,
|
||
Thomas MJ,
|
||
Sargur RB,
|
||
Gordins P,
|
||
Baxendale HE,
|
||
Brown M,
|
||
Tuijnenburg P,
|
||
Worth A,
|
||
Hanson S,
|
||
Linger RJ,
|
||
Buckland MS,
|
||
Rayner-Matthews PJ,
|
||
Gilmour KC,
|
||
Samarghitean C,
|
||
Seneviratne SL,
|
||
Sansom DM,
|
||
Lynch AG,
|
||
Megy K,
|
||
Ellinghaus E,
|
||
Ellinghaus D,
|
||
Jorgensen SF,
|
||
Karlsen TH,
|
||
Stirrups KE,
|
||
Cutler AJ,
|
||
Kumararatne DS,
|
||
Chandra A,
|
||
Edgar JDM,
|
||
Herwadkar A,
|
||
Cooper N,
|
||
Grigoriadou S,
|
||
Huissoon AP,
|
||
Goddard S,
|
||
Jolles S,
|
||
Schuetz C,
|
||
Boschann F;
|
||
Primary Immunodeficiency Consortium for the NIHR Bioresource,
|
||
Lyons PA,
|
||
Hurles ME,
|
||
Savic S,
|
||
Burns SO,
|
||
Kuijpers TW,
|
||
Turro E,
|
||
Ouwehand WH,
|
||
Thrasher AJ,
|
||
Smith KGC</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2020 Jul;583(7814):90-95.
|
||
Epub 2020 May 6
|
||
doi: 10.1038/s41586-020-2265-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32499645" target="_blank">32499645</a><a href="/pmc/articles/PMC7334047" 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%2012)%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 (35)</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/36321557">Folic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crider K,
|
||
Williams J,
|
||
Qi YP,
|
||
Gutman J,
|
||
Yeung L,
|
||
Mai C,
|
||
Finkelstain J,
|
||
Mehta S,
|
||
Pons-Duran C,
|
||
Menéndez C,
|
||
Moraleda C,
|
||
Rogers L,
|
||
Daniels K,
|
||
Green P</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 Feb 1;2(2022)
|
||
doi: 10.1002/14651858.CD014217.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36321557" target="_blank">36321557</a><a href="/pmc/articles/PMC8805585" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34867986">Monogenic Adult-Onset Inborn Errors of Immunity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Staels F,
|
||
Collignon T,
|
||
Betrains A,
|
||
Gerbaux M,
|
||
Willemsen M,
|
||
Humblet-Baron S,
|
||
Liston A,
|
||
Vanderschueren S,
|
||
Schrijvers R</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2021;12:753978.
|
||
Epub 2021 Nov 17
|
||
doi: 10.3389/fimmu.2021.753978.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34867986" target="_blank">34867986</a><a href="/pmc/articles/PMC8635491" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33936030">Treatment Strategies for GLILD in Common Variable Immunodeficiency: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lamers OAC,
|
||
Smits BM,
|
||
Leavis HL,
|
||
de Bree GJ,
|
||
Cunningham-Rundles C,
|
||
Dalm VASH,
|
||
Ho HE,
|
||
Hurst JR,
|
||
IJspeert H,
|
||
Prevaes SMPJ,
|
||
Robinson A,
|
||
van Stigt AC,
|
||
Terheggen-Lagro S,
|
||
van de Ven AAJM,
|
||
Warnatz K,
|
||
van de Wijgert JHHM,
|
||
van Montfrans J</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2021;12:606099.
|
||
Epub 2021 Apr 15
|
||
doi: 10.3389/fimmu.2021.606099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33936030" target="_blank">33936030</a><a href="/pmc/articles/PMC8086379" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33643318">Update on Infections in Primary Antibody Deficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Demirdag YY,
|
||
Gupta S</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2021;12:634181.
|
||
Epub 2021 Feb 11
|
||
doi: 10.3389/fimmu.2021.634181.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33643318" target="_blank">33643318</a><a href="/pmc/articles/PMC7905085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32499645">Whole-genome sequencing of a sporadic primary immunodeficiency cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thaventhiran JED,
|
||
Lango Allen H,
|
||
Burren OS,
|
||
Rae W,
|
||
Greene D,
|
||
Staples E,
|
||
Zhang Z,
|
||
Farmery JHR,
|
||
Simeoni I,
|
||
Rivers E,
|
||
Maimaris J,
|
||
Penkett CJ,
|
||
Stephens J,
|
||
Deevi SVV,
|
||
Sanchis-Juan A,
|
||
Gleadall NS,
|
||
Thomas MJ,
|
||
Sargur RB,
|
||
Gordins P,
|
||
Baxendale HE,
|
||
Brown M,
|
||
Tuijnenburg P,
|
||
Worth A,
|
||
Hanson S,
|
||
Linger RJ,
|
||
Buckland MS,
|
||
Rayner-Matthews PJ,
|
||
Gilmour KC,
|
||
Samarghitean C,
|
||
Seneviratne SL,
|
||
Sansom DM,
|
||
Lynch AG,
|
||
Megy K,
|
||
Ellinghaus E,
|
||
Ellinghaus D,
|
||
Jorgensen SF,
|
||
Karlsen TH,
|
||
Stirrups KE,
|
||
Cutler AJ,
|
||
Kumararatne DS,
|
||
Chandra A,
|
||
Edgar JDM,
|
||
Herwadkar A,
|
||
Cooper N,
|
||
Grigoriadou S,
|
||
Huissoon AP,
|
||
Goddard S,
|
||
Jolles S,
|
||
Schuetz C,
|
||
Boschann F;
|
||
Primary Immunodeficiency Consortium for the NIHR Bioresource,
|
||
Lyons PA,
|
||
Hurles ME,
|
||
Savic S,
|
||
Burns SO,
|
||
Kuijpers TW,
|
||
Turro E,
|
||
Ouwehand WH,
|
||
Thrasher AJ,
|
||
Smith KGC</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2020 Jul;583(7814):90-95.
|
||
Epub 2020 May 6
|
||
doi: 10.1038/s41586-020-2265-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32499645" target="_blank">32499645</a><a href="/pmc/articles/PMC7334047" 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%2012%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 (248)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34983218">Interstitial lung disease in common variable immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan S</span><br />
|
||
<span class="medgenPMjournal">Br J Hosp Med (Lond)</span>
|
||
2021 Dec 2;82(12):1.
|
||
Epub 2021 Dec 20
|
||
doi: 10.12968/hmed.2021.0467.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34983218" target="_blank">34983218</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34867986">Monogenic Adult-Onset Inborn Errors of Immunity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Staels F,
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<span class="bold">PMID: </span><a href="/pubmed/34867986" target="_blank">34867986</a><a href="/pmc/articles/PMC8635491" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33936030">Treatment Strategies for GLILD in Common Variable Immunodeficiency: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lamers OAC,
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Smits BM,
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Leavis HL,
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de Bree GJ,
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Cunningham-Rundles C,
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Dalm VASH,
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Ho HE,
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Hurst JR,
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IJspeert H,
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Robinson A,
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van Stigt AC,
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Terheggen-Lagro S,
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van de Ven AAJM,
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Warnatz K,
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van de Wijgert JHHM,
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van Montfrans J</span><br />
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<span class="medgenPMjournal">Front Immunol</span>
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2021;12:606099.
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Epub 2021 Apr 15
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<span class="bold">PMID: </span><a href="/pubmed/33936030" target="_blank">33936030</a><a href="/pmc/articles/PMC8086379" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33643318">Update on Infections in Primary Antibody Deficiencies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Demirdag YY,
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Gupta S</span><br />
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<span class="medgenPMjournal">Front Immunol</span>
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2021;12:634181.
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Epub 2021 Feb 11
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doi: 10.3389/fimmu.2021.634181.
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<span class="bold">PMID: </span><a href="/pubmed/33643318" target="_blank">33643318</a><a href="/pmc/articles/PMC7905085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/32499645">Whole-genome sequencing of a sporadic primary immunodeficiency cohort.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Thaventhiran JED,
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Lango Allen H,
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Burren OS,
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Rae W,
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Greene D,
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Staples E,
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Zhang Z,
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Farmery JHR,
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Simeoni I,
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Rivers E,
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Maimaris J,
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Penkett CJ,
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Stephens J,
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Deevi SVV,
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Sanchis-Juan A,
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Gleadall NS,
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Thomas MJ,
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Sargur RB,
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Gordins P,
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Baxendale HE,
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Brown M,
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Tuijnenburg P,
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Worth A,
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Hanson S,
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Linger RJ,
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Buckland MS,
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Rayner-Matthews PJ,
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Gilmour KC,
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Samarghitean C,
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Seneviratne SL,
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Sansom DM,
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Lynch AG,
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Megy K,
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Ellinghaus E,
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Ellinghaus D,
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Jorgensen SF,
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Karlsen TH,
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Stirrups KE,
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Cutler AJ,
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Kumararatne DS,
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Chandra A,
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Edgar JDM,
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Herwadkar A,
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Cooper N,
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Grigoriadou S,
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Huissoon AP,
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Goddard S,
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Jolles S,
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Schuetz C,
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Boschann F;
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Primary Immunodeficiency Consortium for the NIHR Bioresource,
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Lyons PA,
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Hurles ME,
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Savic S,
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Burns SO,
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Kuijpers TW,
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Turro E,
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Ouwehand WH,
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Thrasher AJ,
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<span class="medgenPMjournal">Nature</span>
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2020 Jul;583(7814):90-95.
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Epub 2020 May 6
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<span class="bold">PMID: </span><a href="/pubmed/32499645" target="_blank">32499645</a><a href="/pmc/articles/PMC7334047" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2C%20common%20variable%2C%2012%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 (241)</a></div><h3 class="subhead">Therapy</h3>
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<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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fevang B</span><br />
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<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
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2023 Jun;19(6):627-638.
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Epub 2023 Apr 6
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doi: 10.1080/1744666X.2023.2198208.
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<span class="bold">PMID: </span><a href="/pubmed/36996348" target="_blank">36996348</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/36321557">Folic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Crider K,
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Williams J,
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Qi YP,
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Gutman J,
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Yeung L,
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Mai C,
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Finkelstain J,
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Mehta S,
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Pons-Duran C,
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Menéndez C,
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Moraleda C,
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Rogers L,
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Daniels K,
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Green P</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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2022 Feb 1;2(2022)
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doi: 10.1002/14651858.CD014217.
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<span class="bold">PMID: </span><a href="/pubmed/36321557" target="_blank">36321557</a><a href="/pmc/articles/PMC8805585" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/35116031">Common Variable Immunodeficiency Disorders as a Model for Assessing COVID-19 Vaccine Responses in Immunocompromised Patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ameratunga R,
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Woon ST,
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Steele R,
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Lehnert K,
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Leung E,
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<span class="medgenPMjournal">Front Immunol</span>
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2021;12:798389.
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Epub 2022 Jan 18
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doi: 10.3389/fimmu.2021.798389.
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<span class="bold">PMID: </span><a href="/pubmed/35116031" target="_blank">35116031</a><a href="/pmc/articles/PMC8805700" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/33936030">Treatment Strategies for GLILD in Common Variable Immunodeficiency: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lamers OAC,
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Smits BM,
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Leavis HL,
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de Bree GJ,
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Cunningham-Rundles C,
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Dalm VASH,
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Ho HE,
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Hurst JR,
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IJspeert H,
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Prevaes SMPJ,
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Robinson A,
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van Stigt AC,
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Terheggen-Lagro S,
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van de Ven AAJM,
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Warnatz K,
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van de Wijgert JHHM,
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van Montfrans J</span><br />
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<span class="medgenPMjournal">Front Immunol</span>
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2021;12:606099.
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Epub 2021 Apr 15
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doi: 10.3389/fimmu.2021.606099.
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<span class="bold">PMID: </span><a href="/pubmed/33936030" target="_blank">33936030</a><a href="/pmc/articles/PMC8086379" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33203275">Autoimmunity in common variable immunodeficiency: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rizvi FS,
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Zainaldain H,
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Rafiemanesh H,
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Jamee M,
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Hossein-Khannazer N,
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Hamedifar H,
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Sabzevari A,
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Yazdani R,
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Abolhassani H,
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Aghamohammadi A,
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Azizi G</span><br />
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<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
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2020 Dec;16(12):1227-1235.
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Epub 2020 Dec 7
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doi: 10.1080/1744666X.2021.1850272.
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<span class="bold">PMID: </span><a href="/pubmed/33203275" target="_blank">33203275</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2C%20common%20variable%2C%2012%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 (144)</a></div><h3 class="subhead">Prognosis</h3>
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<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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fevang B</span><br />
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<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
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2023 Jun;19(6):627-638.
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Epub 2023 Apr 6
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doi: 10.1080/1744666X.2023.2198208.
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<span class="bold">PMID: </span><a href="/pubmed/36996348" target="_blank">36996348</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33968027">Editorial: The Complexity of Primary Antibody Deficiencies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Quinti I,
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Spadaro G,
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Jolles S,
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Condino-Neto A</span><br />
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<span class="medgenPMjournal">Front Immunol</span>
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2021;12:635482.
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Epub 2021 Apr 21
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doi: 10.3389/fimmu.2021.635482.
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<span class="bold">PMID: </span><a href="/pubmed/33968027" target="_blank">33968027</a><a href="/pmc/articles/PMC8097173" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33936030">Treatment Strategies for GLILD in Common Variable Immunodeficiency: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lamers OAC,
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Smits BM,
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Leavis HL,
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de Bree GJ,
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Cunningham-Rundles C,
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Dalm VASH,
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Ho HE,
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Hurst JR,
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IJspeert H,
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Prevaes SMPJ,
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Robinson A,
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van Stigt AC,
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Terheggen-Lagro S,
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van de Ven AAJM,
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Warnatz K,
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van de Wijgert JHHM,
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van Montfrans J</span><br />
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<span class="medgenPMjournal">Front Immunol</span>
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2021;12:606099.
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Epub 2021 Apr 15
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doi: 10.3389/fimmu.2021.606099.
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<span class="bold">PMID: </span><a href="/pubmed/33936030" target="_blank">33936030</a><a href="/pmc/articles/PMC8086379" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33643318">Update on Infections in Primary Antibody Deficiencies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Demirdag YY,
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Gupta S</span><br />
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<span class="medgenPMjournal">Front Immunol</span>
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2021;12:634181.
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Epub 2021 Feb 11
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doi: 10.3389/fimmu.2021.634181.
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<span class="bold">PMID: </span><a href="/pubmed/33643318" target="_blank">33643318</a><a href="/pmc/articles/PMC7905085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<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>
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van der Meer JWM,
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Ameratunga R,
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Roifman CM,
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Schejter YD,
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Rae W,
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Brauer N,
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Syrjänen J,
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Seppänen MRJ,
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Burns SO,
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Tuijnenburg P,
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Kuijpers TW;
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NIHR BioResource,
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Warnatz K,
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Grimbacher B;
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<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>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2C%20common%20variable%2C%2012%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 (117)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fevang B</span><br />
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<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
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2023 Jun;19(6):627-638.
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Epub 2023 Apr 6
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doi: 10.1080/1744666X.2023.2198208.
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<span class="bold">PMID: </span><a href="/pubmed/36996348" target="_blank">36996348</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36321557">Folic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Crider K,
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Williams J,
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Qi YP,
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Gutman J,
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Yeung L,
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Mai C,
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Finkelstain J,
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Mehta S,
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Pons-Duran C,
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Menéndez C,
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Moraleda C,
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Rogers L,
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Daniels K,
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Green P</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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2022 Feb 1;2(2022)
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doi: 10.1002/14651858.CD014217.
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<span class="bold">PMID: </span><a href="/pubmed/36321557" target="_blank">36321557</a><a href="/pmc/articles/PMC8805585" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35443489">Malabsorption Spectrums in India.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">ShibenduGhosh CV,
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Yusuf SA</span><br />
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<span class="medgenPMjournal">J Assoc Physicians India</span>
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<span class="bold">PMID: </span><a href="/pubmed/35443489" target="_blank">35443489</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32499645">Whole-genome sequencing of a sporadic primary immunodeficiency cohort.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Thaventhiran JED,
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Lango Allen H,
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Burren OS,
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Rae W,
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Greene D,
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Staples E,
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Zhang Z,
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Farmery JHR,
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Simeoni I,
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Rivers E,
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Maimaris J,
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Penkett CJ,
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Stephens J,
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Deevi SVV,
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Sanchis-Juan A,
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Gleadall NS,
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Thomas MJ,
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Sargur RB,
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Gordins P,
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Baxendale HE,
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Brown M,
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Tuijnenburg P,
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Worth A,
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Hanson S,
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Linger RJ,
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Buckland MS,
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Rayner-Matthews PJ,
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Gilmour KC,
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Samarghitean C,
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Seneviratne SL,
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Sansom DM,
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Lynch AG,
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Megy K,
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Ellinghaus E,
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Ellinghaus D,
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Jorgensen SF,
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Karlsen TH,
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Stirrups KE,
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Cutler AJ,
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Kumararatne DS,
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Chandra A,
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Edgar JDM,
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Herwadkar A,
|
||
Cooper N,
|
||
Grigoriadou S,
|
||
Huissoon AP,
|
||
Goddard S,
|
||
Jolles S,
|
||
Schuetz C,
|
||
Boschann F;
|
||
Primary Immunodeficiency Consortium for the NIHR Bioresource,
|
||
Lyons PA,
|
||
Hurles ME,
|
||
Savic S,
|
||
Burns SO,
|
||
Kuijpers TW,
|
||
Turro E,
|
||
Ouwehand WH,
|
||
Thrasher AJ,
|
||
Smith KGC</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2020 Jul;583(7814):90-95.
|
||
Epub 2020 May 6
|
||
doi: 10.1038/s41586-020-2265-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32499645" target="_blank">32499645</a><a href="/pmc/articles/PMC7334047" target="_blank" class="PubMedFree">Free PMC Article</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,
|
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Frede N,
|
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Proietti M,
|
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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,
|
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Plebani A,
|
||
Alsina L,
|
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Piquer-Gibert M,
|
||
Deyà-Martínez A,
|
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Slade CA,
|
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Aghamohammadi A,
|
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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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2C%20common%20variable%2C%2012%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 (148)</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/36321557">Folic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crider K,
|
||
Williams J,
|
||
Qi YP,
|
||
Gutman J,
|
||
Yeung L,
|
||
Mai C,
|
||
Finkelstain J,
|
||
Mehta S,
|
||
Pons-Duran C,
|
||
Menéndez C,
|
||
Moraleda C,
|
||
Rogers L,
|
||
Daniels K,
|
||
Green P</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 Feb 1;2(2022)
|
||
doi: 10.1002/14651858.CD014217.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36321557" target="_blank">36321557</a><a href="/pmc/articles/PMC8805585" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34001138">Alcohol use and its determinants among adults living with HIV/AIDS in Ethiopia: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mekuriaw B,
|
||
Belayneh Z,
|
||
Molla A,
|
||
Mehare T</span><br />
|
||
<span class="medgenPMjournal">Harm Reduct J</span>
|
||
2021 May 17;18(1):55.
|
||
doi: 10.1186/s12954-021-00503-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34001138" target="_blank">34001138</a><a href="/pmc/articles/PMC8130112" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33936030">Treatment Strategies for GLILD in Common Variable Immunodeficiency: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lamers OAC,
|
||
Smits BM,
|
||
Leavis HL,
|
||
de Bree GJ,
|
||
Cunningham-Rundles C,
|
||
Dalm VASH,
|
||
Ho HE,
|
||
Hurst JR,
|
||
IJspeert H,
|
||
Prevaes SMPJ,
|
||
Robinson A,
|
||
van Stigt AC,
|
||
Terheggen-Lagro S,
|
||
van de Ven AAJM,
|
||
Warnatz K,
|
||
van de Wijgert JHHM,
|
||
van Montfrans J</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2021;12:606099.
|
||
Epub 2021 Apr 15
|
||
doi: 10.3389/fimmu.2021.606099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33936030" target="_blank">33936030</a><a href="/pmc/articles/PMC8086379" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33833753">Lessons Learned From the Clinical Presentation of Common Variable Immunodeficiency Disorders: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Janssen LMA,
|
||
van der Flier M,
|
||
de Vries E</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2021;12:620709.
|
||
Epub 2021 Mar 23
|
||
doi: 10.3389/fimmu.2021.620709.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33833753" target="_blank">33833753</a><a href="/pmc/articles/PMC8021796" 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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2C%20common%20variable%2C%2012%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 (9)</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">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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|
||
<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=C4225277%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225277%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225277%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225277%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4225277%5bDISCUI%5d" target="_blank">See all (15)</a></total></li>
|
||
</ul></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=616576" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Immunodeficiency,%20common%20variable,%2012" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
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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>
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||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(immunodeficiency%2C%20common%20variable%2C%2012)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</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=164011" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4790[geneid]" target="_blank">View NFKB1 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=616576" 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_common_variable_12_with_autoimmunity" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Immunodeficiency,%20common%20variable,%2012" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16141/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Immunodeficiency,%20common%20variable,%2012" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Immunodeficiency,%20common%20variable,%2012%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=906018" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=906018" ref="log$=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=C4225277[DISCUI]" ref="log$=recordlinks">GTR</a>
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