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<meta name="keywords" content="C5882741, cvid15, disease or syndrome, immunodeficiency, common variable, 15, sec61a1, 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-15 (CVID15) is an autosomal dominant immunologic disorder characterized by the onset of severe recurrent infections in infancy or early childhood. Laboratory studies show hypogammaglobulinemia with antibody deficiencies of IgM, IgG, and IgA due to impaired plasma cell homeostasis, although other B cell subset numbers are normal. T and NK cells are also normal. Treatment with IV Ig results in a favorable clinical response to recurrent infections (Schubert et al., 2018). 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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<!--
|
||
UID=1847802
|
||
ConceptID=C5882741
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Immunodeficiency, common variable, 15<span class="h1sub">(CVID15)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847802</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:">C5882741</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>CVID15</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="SEC61A1 - ID: 29927 - NCBI Gene" href="/gene/29927" class="medgenPMinfo">SEC61A1</a> (3q21.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0958013" target="_blank">MONDO:0958013</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620670" target="_blank">620670</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Common variable immunodeficiency-15 (CVID15) is an autosomal dominant immunologic disorder characterized by the onset of severe recurrent infections in infancy or early childhood. Laboratory studies show hypogammaglobulinemia with antibody deficiencies of IgM, IgG, and IgA due to impaired plasma cell homeostasis, although other B cell subset numbers are normal. T and NK cells are also normal. Treatment with IV Ig results in a favorable clinical response to recurrent infections (Schubert et al., 2018). 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>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_20474"><div><strong>Raynaud phenomenon</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20474</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.">C0034735</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20474">Feature record</a> | <a href="/medgen?term=%22Raynaud%20phenomenon%22%5BClinical%20Features%5D%20OR%2020474%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870778"><div><strong>Frequent Giardia lamblia infestation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870778</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.">C4025235</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870778">Feature record</a> | <a href="/medgen?term=%22Frequent%20Giardia%20lamblia%20infestation%22%5BClinical%20Features%5D%20OR%20870778%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1526"><div><strong>Anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1526</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.">C0002871</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in erythrocytes volume or hemoglobin concentration.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1526">Feature record</a> | <a href="/medgen?term=%22Anemia%22%5BClinical%20Features%5D%20OR%201526%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_148159"><div><strong>Recurrent bronchitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>148159</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.">C0741796</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/148159">Feature record</a> | <a href="/medgen?term=%22Recurrent%20bronchitis%22%5BClinical%20Features%5D%20OR%20148159%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_756211"><div><strong>Recurrent lower respiratory tract infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>756211</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.">C3163798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/756211">Feature record</a> | <a href="/medgen?term=%22Recurrent%20lower%20respiratory%20tract%20infections%22%5BClinical%20Features%5D%20OR%20756211%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48626"><div><strong>Sepsis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48626</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.">C0036690</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Systemic inflammatory response to infection.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48626">Feature record</a> | <a href="/medgen?term=%22Sepsis%22%5BClinical%20Features%5D%20OR%2048626%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57934"><div><strong>Decreased circulating IgA concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57934</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.">C0162538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased levels of immunoglobulin A (IgA).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57934">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20IgA%20concentration%22%5BClinical%20Features%5D%20OR%2057934%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116095"><div><strong>Decreased circulating total IgM</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116095</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.">C0239989</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased level of immunoglobulin M (IgM) in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116095">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20total%20IgM%22%5BClinical%20Features%5D%20OR%20116095%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1781351"><div><strong>Recurrent tonsillitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1781351</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.">C0740402</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1781351">Feature record</a> | <a href="/medgen?term=%22Recurrent%20tonsillitis%22%5BClinical%20Features%5D%20OR%201781351%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_155436"><div><strong>Recurrent otitis media</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155436</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.">C0747085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155436">Feature record</a> | <a href="/medgen?term=%22Recurrent%20otitis%20media%22%5BClinical%20Features%5D%20OR%20155436%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1687415"><div><strong>Complete or near-complete absence of specific antibody response to tetanus vaccine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1687415</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5139458</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1687415">Feature record</a> | <a href="/medgen?term=%22Complete%20or%20near-complete%20absence%20of%20specific%20antibody%20response%20to%20tetanus%20vaccine%22%5BClinical%20Features%5D%20OR%201687415%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1699537"><div><strong>Partial absence of specific antibody response to tetanus vaccine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1699537</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.">C5139460</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1699537">Feature record</a> | <a href="/medgen?term=%22Partial%20absence%20of%20specific%20antibody%20response%20to%20tetanus%20vaccine%22%5BClinical%20Features%5D%20OR%201699537%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1708273"><div><strong>Decreased specific antibody response to polysaccharide vaccine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1708273</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.">C5139462</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1708273">Feature record</a> | <a href="/medgen?term=%22Decreased%20specific%20antibody%20response%20to%20polysaccharide%20vaccine%22%5BClinical%20Features%5D%20OR%201708273%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1708120"><div><strong>Decreased specific antibody response to protein-conjugated polysaccharide vaccine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1708120</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.">C5139465</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1708120">Feature record</a> | <a href="/medgen?term=%22Decreased%20specific%20antibody%20response%20to%20protein-conjugated%20polysaccharide%20vaccine%22%5BClinical%20Features%5D%20OR%201708120%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1720114"><div><strong>Decreased circulating IgG concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1720114</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.">C5234937</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased level of immunoglobulin G (IgG) in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1720114">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20IgG%20concentration%22%5BClinical%20Features%5D%20OR%201720114%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_148579"><div><strong>Elevated circulating creatinine concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>148579</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.">C0700225</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased amount of creatinine in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/148579">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20creatinine%20concentration%22%5BClinical%20Features%5D%20OR%20148579%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_1526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anemia</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_148579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating creatinine concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20474" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Raynaud phenomenon</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_870778" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frequent Giardia lamblia infestation</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_1687415" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Complete or near-complete absence of specific antibody response to tetanus vaccine</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57934" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating IgA concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1720114" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating IgG concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116095" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating total IgM</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1708273" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased specific antibody response to polysaccharide vaccine</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1708120" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased specific antibody response to protein-conjugated polysaccharide vaccine</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1699537" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Partial absence of specific antibody response to tetanus vaccine</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_155436" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent otitis media</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1781351" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent tonsillitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48626" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sepsis</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_148159" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent bronchitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_756211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent lower respiratory tract 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_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/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 class="nl"><a target="_blank" href="/pubmed/32278790">Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lorenzini T,
|
||
Fliegauf M,
|
||
Klammer N,
|
||
Frede N,
|
||
Proietti M,
|
||
Bulashevska A,
|
||
Camacho-Ordonez N,
|
||
Varjosalo M,
|
||
Kinnunen M,
|
||
de Vries E,
|
||
van der Meer JWM,
|
||
Ameratunga R,
|
||
Roifman CM,
|
||
Schejter YD,
|
||
Kobbe R,
|
||
Hautala T,
|
||
Atschekzei F,
|
||
Schmidt RE,
|
||
Schröder C,
|
||
Stepensky P,
|
||
Shadur B,
|
||
Pedroza LA,
|
||
van der Flier M,
|
||
Martínez-Gallo M,
|
||
Gonzalez-Granado LI,
|
||
Allende LM,
|
||
Shcherbina A,
|
||
Kuzmenko N,
|
||
Zakharova V,
|
||
Neves JF,
|
||
Svec P,
|
||
Fischer U,
|
||
Ip W,
|
||
Bartsch O,
|
||
Barış S,
|
||
Klein C,
|
||
Geha R,
|
||
Chou J,
|
||
Alosaimi M,
|
||
Weintraub L,
|
||
Boztug K,
|
||
Hirschmugl T,
|
||
Dos Santos Vilela MM,
|
||
Holzinger D,
|
||
Seidl M,
|
||
Lougaris V,
|
||
Plebani A,
|
||
Alsina L,
|
||
Piquer-Gibert M,
|
||
Deyà-Martínez A,
|
||
Slade CA,
|
||
Aghamohammadi A,
|
||
Abolhassani H,
|
||
Hammarström L,
|
||
Kuismin O,
|
||
Helminen M,
|
||
Allen HL,
|
||
Thaventhiran JE,
|
||
Freeman AF,
|
||
Cook M,
|
||
Bakhtiar S,
|
||
Christiansen M,
|
||
Cunningham-Rundles C,
|
||
Patel NC,
|
||
Rae W,
|
||
Niehues T,
|
||
Brauer N,
|
||
Syrjänen J,
|
||
Seppänen MRJ,
|
||
Burns SO,
|
||
Tuijnenburg P,
|
||
Kuijpers TW;
|
||
NIHR BioResource,
|
||
Warnatz K,
|
||
Grimbacher B;
|
||
NIHR BioResource</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2020 Oct;146(4):901-911.
|
||
Epub 2020 Apr 9
|
||
doi: 10.1016/j.jaci.2019.11.051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32278790" target="_blank">32278790</a><a href="/pmc/articles/PMC8246418" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29729943">Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwab C,
|
||
Gabrysch A,
|
||
Olbrich P,
|
||
Patiño V,
|
||
Warnatz K,
|
||
Wolff D,
|
||
Hoshino A,
|
||
Kobayashi M,
|
||
Imai K,
|
||
Takagi M,
|
||
Dybedal I,
|
||
Haddock JA,
|
||
Sansom DM,
|
||
Lucena JM,
|
||
Seidl M,
|
||
Schmitt-Graeff A,
|
||
Reiser V,
|
||
Emmerich F,
|
||
Frede N,
|
||
Bulashevska A,
|
||
Salzer U,
|
||
Schubert D,
|
||
Hayakawa S,
|
||
Okada S,
|
||
Kanariou M,
|
||
Kucuk ZY,
|
||
Chapdelaine H,
|
||
Petruzelkova L,
|
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Sumnik Z,
|
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Sediva A,
|
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Slatter M,
|
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Arkwright PD,
|
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Cant A,
|
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Lorenz HM,
|
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Giese T,
|
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Lougaris V,
|
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Plebani A,
|
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Price C,
|
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Sullivan KE,
|
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Moutschen M,
|
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Litzman J,
|
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Freiberger T,
|
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van de Veerdonk FL,
|
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Recher M,
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Albert MH,
|
||
Hauck F,
|
||
Seneviratne S,
|
||
Pachlopnik Schmid J,
|
||
Kolios A,
|
||
Unglik G,
|
||
Klemann C,
|
||
Speckmann C,
|
||
Ehl S,
|
||
Leichtner A,
|
||
Blumberg R,
|
||
Franke A,
|
||
Snapper S,
|
||
Zeissig S,
|
||
Cunningham-Rundles C,
|
||
Giulino-Roth L,
|
||
Elemento O,
|
||
Dückers G,
|
||
Niehues T,
|
||
Fronkova E,
|
||
Kanderová V,
|
||
Platt CD,
|
||
Chou J,
|
||
Chatila TA,
|
||
Geha R,
|
||
McDermott E,
|
||
Bunn S,
|
||
Kurzai M,
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Schulz A,
|
||
Alsina L,
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||
Casals F,
|
||
Deyà-Martinez A,
|
||
Hambleton S,
|
||
Kanegane H,
|
||
Taskén K,
|
||
Neth O,
|
||
Grimbacher B</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2018 Dec;142(6):1932-1946.
|
||
Epub 2018 May 4
|
||
doi: 10.1016/j.jaci.2018.02.055.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29729943" target="_blank">29729943</a><a href="/pmc/articles/PMC6215742" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(immunodeficiency%2C%20common%20variable%2C%2015)%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 (25)</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/38302222">Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hägele P,
|
||
Staus P,
|
||
Scheible R,
|
||
Uhlmann A,
|
||
Heeg M,
|
||
Klemann C,
|
||
Maccari ME,
|
||
Ritterbusch H,
|
||
Armstrong M,
|
||
Cutcutache I,
|
||
Elliott KS,
|
||
von Bernuth H,
|
||
Leahy TR,
|
||
Leyh J,
|
||
Holzinger D,
|
||
Lehmberg K,
|
||
Svec P,
|
||
Masjosthusmann K,
|
||
Hambleton S,
|
||
Jakob M,
|
||
Sparber-Sauer M,
|
||
Kager L,
|
||
Puzik A,
|
||
Wolkewitz M,
|
||
Lorenz MR,
|
||
Schwarz K,
|
||
Speckmann C,
|
||
Rensing-Ehl A,
|
||
Ehl S;
|
||
ALPID study group</span><br />
|
||
<span class="medgenPMjournal">Lancet Haematol</span>
|
||
2024 Feb;11(2):e114-e126.
|
||
doi: 10.1016/S2352-3026(23)00362-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38302222" target="_blank">38302222</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36479106">SARS-COV-2 infections in inborn errors of immunity: A single center study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cousins K,
|
||
DeFelice N,
|
||
Jeong S,
|
||
Feng J,
|
||
Lee ASE,
|
||
Rotella K,
|
||
Sanchez D,
|
||
Jaber F,
|
||
Agarwal S,
|
||
Ho HE,
|
||
Cunningham-Rundles C</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2022;13:1035571.
|
||
Epub 2022 Nov 21
|
||
doi: 10.3389/fimmu.2022.1035571.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36479106" target="_blank">36479106</a><a href="/pmc/articles/PMC9720892" 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 class="nl"><a target="_blank" href="/pubmed/27400622">Primary immune deficiency in bronchiectasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ozerovitch L</span><br />
|
||
<span class="medgenPMjournal">Nurs Times</span>
|
||
2016 Apr 13-19;112(15):16-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27400622" target="_blank">27400622</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27392505">Autoimmunity and infection in common variable immunodeficiency (CVID).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patuzzo G,
|
||
Barbieri A,
|
||
Tinazzi E,
|
||
Veneri D,
|
||
Argentino G,
|
||
Moretta F,
|
||
Puccetti A,
|
||
Lunardi C</span><br />
|
||
<span class="medgenPMjournal">Autoimmun Rev</span>
|
||
2016 Sep;15(9):877-82.
|
||
Epub 2016 Jul 6
|
||
doi: 10.1016/j.autrev.2016.07.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27392505" target="_blank">27392505</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2C%20common%20variable%2C%2015%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 (192)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38302222">Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hägele P,
|
||
Staus P,
|
||
Scheible R,
|
||
Uhlmann A,
|
||
Heeg M,
|
||
Klemann C,
|
||
Maccari ME,
|
||
Ritterbusch H,
|
||
Armstrong M,
|
||
Cutcutache I,
|
||
Elliott KS,
|
||
von Bernuth H,
|
||
Leahy TR,
|
||
Leyh J,
|
||
Holzinger D,
|
||
Lehmberg K,
|
||
Svec P,
|
||
Masjosthusmann K,
|
||
Hambleton S,
|
||
Jakob M,
|
||
Sparber-Sauer M,
|
||
Kager L,
|
||
Puzik A,
|
||
Wolkewitz M,
|
||
Lorenz MR,
|
||
Schwarz K,
|
||
Speckmann C,
|
||
Rensing-Ehl A,
|
||
Ehl S;
|
||
ALPID study group</span><br />
|
||
<span class="medgenPMjournal">Lancet Haematol</span>
|
||
2024 Feb;11(2):e114-e126.
|
||
doi: 10.1016/S2352-3026(23)00362-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38302222" target="_blank">38302222</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36479106">SARS-COV-2 infections in inborn errors of immunity: A single center study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cousins K,
|
||
DeFelice N,
|
||
Jeong S,
|
||
Feng J,
|
||
Lee ASE,
|
||
Rotella K,
|
||
Sanchez D,
|
||
Jaber F,
|
||
Agarwal S,
|
||
Ho HE,
|
||
Cunningham-Rundles C</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2022;13:1035571.
|
||
Epub 2022 Nov 21
|
||
doi: 10.3389/fimmu.2022.1035571.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36479106" target="_blank">36479106</a><a href="/pmc/articles/PMC9720892" 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 class="nl"><a target="_blank" href="/pubmed/28411962">Epidemiology and pathophysiology of malignancy in common variable immunodeficiency?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tak Manesh A,
|
||
Azizi G,
|
||
Heydari A,
|
||
Kiaee F,
|
||
Shaghaghi M,
|
||
Hossein-Khannazer N,
|
||
Yazdani R,
|
||
Abolhassani H,
|
||
Aghamohammadi A</span><br />
|
||
<span class="medgenPMjournal">Allergol Immunopathol (Madr)</span>
|
||
2017 Nov-Dec;45(6):602-615.
|
||
Epub 2017 Apr 12
|
||
doi: 10.1016/j.aller.2017.01.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28411962" target="_blank">28411962</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7542578">Common variable immunodeficiency (CVID) and MxA-protein expression in blood leucocytes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rump JA,
|
||
Jakschiess D,
|
||
Walker U,
|
||
Schlesier M,
|
||
von Wussow P,
|
||
Peter HH</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Immunol</span>
|
||
1995 Jul;101(1):89-93.
|
||
doi: 10.1111/j.1365-2249.1995.tb02282.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7542578" target="_blank">7542578</a><a href="/pmc/articles/PMC1553315" 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%2015%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 (178)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31452405">Malignancy in common variable immunodeficiency: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kiaee F,
|
||
Azizi G,
|
||
Rafiemanesh H,
|
||
Zainaldain H,
|
||
Sadaat Rizvi F,
|
||
Alizadeh M,
|
||
Jamee M,
|
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Mohammadi S,
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Allende LM,
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Shcherbina A,
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Svec P,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2C%20common%20variable%2C%2015%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 (129)</a></div></div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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|
||
<div class="nl"><a target="_blank" href="/pubmed/38280023">Systematic review of mortality and survival rates for APDS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hanson J,
|
||
Bonnen PE</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Med</span>
|
||
2024 Jan 27;24(1):17.
|
||
doi: 10.1007/s10238-023-01259-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38280023" target="_blank">38280023</a><a href="/pmc/articles/PMC10821986" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33391274">What Works When Treating Granulomatous Disease in Genetically Undefined CVID? A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Stigt AC,
|
||
Dik WA,
|
||
Kamphuis LSJ,
|
||
Smits BM,
|
||
van Montfrans JM,
|
||
van Hagen PM,
|
||
Dalm VASH,
|
||
IJspeert H</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2020;11:606389.
|
||
Epub 2020 Dec 17
|
||
doi: 10.3389/fimmu.2020.606389.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33391274" target="_blank">33391274</a><a href="/pmc/articles/PMC7773704" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31452405">Malignancy in common variable immunodeficiency: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kiaee F,
|
||
Azizi G,
|
||
Rafiemanesh H,
|
||
Zainaldain H,
|
||
Sadaat Rizvi F,
|
||
Alizadeh M,
|
||
Jamee M,
|
||
Mohammadi S,
|
||
Habibi S,
|
||
Sharifi L,
|
||
Jadidi-Niaragh F,
|
||
Haghi S,
|
||
Yazdani R,
|
||
Abolhassani H,
|
||
Aghamohammadi A</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
|
||
2019 Oct;15(10):1105-1113.
|
||
Epub 2019 Sep 15
|
||
doi: 10.1080/1744666X.2019.1658523.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31452405" target="_blank">31452405</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2C%20common%20variable%2C%2015%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 (5)</a></div></div>
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