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<meta name="keywords" content="C3279824, disease or syndrome, igg subclass deficiency with iga subclass deficiency, igkc, igkcd, immunoglobulin kappa light chain deficiency, isolated igg subclass deficiency, kappa chain deficiency, kappa light chain deficiency, kappa-chain deficiency, recurrent infections associated with rare immunoglobulin isotypes deficiency, selective igg subclass 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="Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=481454
|
||
ConceptID=C3279824
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Recurrent infections associated with rare immunoglobulin isotypes deficiency<span class="h1sub">(IGKCD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481454</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:">C3279824</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>Immunoglobulin kappa light chain deficiency; KAPPA CHAIN DEFICIENCY</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_989040"><div><strong>Unknown inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>989040</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">Hereditary clinical entity whose mode of inheritance is unknown.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/989040">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_989040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Unknown inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="IGKC - ID: 3514 - NCBI Gene" href="/gene/3514" class="medgenPMinfo">IGKC</a> (2p11.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013576" target="_blank">MONDO:0013576</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614102" target="_blank">614102</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=183675">ORPHA183675</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">Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections. [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</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_8360"><div><strong>Diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8360</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.">C0011991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8360">Feature record</a> | <a href="/medgen?term=%22Diarrhea%22%5BClinical%20Features%5D%20OR%208360%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96036"><div><strong>Chronic diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96036</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.">C0401151</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96036">Feature record</a> | <a href="/medgen?term=%22Chronic%20diarrhea%22%5BClinical%20Features%5D%20OR%2096036%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_812812"><div><strong>Recurrent respiratory infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812812</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3806482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/812812">Feature record</a> | <a href="/medgen?term=%22Recurrent%20respiratory%20infections%22%5BClinical%20Features%5D%20OR%20812812%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_1864160"><div><strong>Absent circulating immunoglobulin kappa chain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1864160</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.">C5937079</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Laboratory or Test Result</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nondetectable kappa chain in the blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Absent%20circulating%20immunoglobulin%20kappa%20chain%22%5BClinical%20Features%5D%20OR%201864160%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96036" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic diarrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diarrhea</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_1864160" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent circulating immunoglobulin kappa chain</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65998" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent infections</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_812812" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent respiratory infections</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279824[DISCUI]&test_type=Clinical" ref="ncbi_uid=481454">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481454" target="_blank" href="/omim/147200">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=481454" ref="ncbi_uid=481454">V</a></span></span><span class="TLline">Recurrent infections associated with rare immunoglobulin isotypes deficiency</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843361" ref="tree=MeSH" title="MedGen record for Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells">Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells</a></span><ul><li><span class="matched_ds">Recurrent infections associated with rare immunoglobulin isotypes deficiency</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=18308&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Recurrent infections associated with rare immunoglobulin isotypes deficiency</span> in Orphanet.</div></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/34080085">Lineage-Specific Chimerism and Outcome After Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raedler J,
|
||
Magg T,
|
||
Rohlfs M,
|
||
Klein C,
|
||
Vallée T,
|
||
Hauck F,
|
||
Albert MH</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2021 Oct;41(7):1536-1548.
|
||
Epub 2021 Jun 2
|
||
doi: 10.1007/s10875-021-01069-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34080085" target="_blank">34080085</a><a href="/pmc/articles/PMC8452590" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31179555">Clinical, genetic and immunological characteristics of 40 Chinese patients with CD40 ligand deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Du X,
|
||
Tang W,
|
||
Chen X,
|
||
Zeng T,
|
||
Wang Y,
|
||
Chen Z,
|
||
Xu T,
|
||
Zhou L,
|
||
Tang X,
|
||
An Y,
|
||
Zhao X</span><br />
|
||
<span class="medgenPMjournal">Scand J Immunol</span>
|
||
2019 Oct;90(4):e12798.
|
||
Epub 2019 Jul 21
|
||
doi: 10.1111/sji.12798.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31179555" target="_blank">31179555</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28984901">Truly selective primary IgM deficiency is probably very rare.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Janssen LMA,
|
||
Macken T,
|
||
Creemers MCW,
|
||
Pruijt JFM,
|
||
Eijk JJJ,
|
||
de Vries E</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Immunol</span>
|
||
2018 Feb;191(2):203-211.
|
||
Epub 2017 Oct 27
|
||
doi: 10.1111/cei.13065.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28984901" target="_blank">28984901</a><a href="/pmc/articles/PMC5758373" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19879913">HLA-DRB1*01 allele and low plasma immunoglobulin G1 concentration may predispose to herpes-associated recurrent lymphocytic meningitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kallio-Laine K,
|
||
Seppänen M,
|
||
Aittoniemi J,
|
||
Kautiainen H,
|
||
Seppälä I,
|
||
Valtonen V,
|
||
Färkkilä M,
|
||
Kalso E,
|
||
Lokki ML</span><br />
|
||
<span class="medgenPMjournal">Hum Immunol</span>
|
||
2010 Feb;71(2):179-81.
|
||
Epub 2009 Oct 30
|
||
doi: 10.1016/j.humimm.2009.10.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19879913" target="_blank">19879913</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2784795">Clinical and immunologic analyses of 103 patients with common variable immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cunningham-Rundles C</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
1989 Jan;9(1):22-33.
|
||
doi: 10.1007/BF00917124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2784795" target="_blank">2784795</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Recurrent%20infections%20associated%20with%20rare%20immunoglobulin%20isotypes%20deficiency%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 (8)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36159847">Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine deaminase 2 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Drago E,
|
||
Garbarino F,
|
||
Signa S,
|
||
Grossi A,
|
||
Schena F,
|
||
Penco F,
|
||
Santori E,
|
||
Candotti F,
|
||
Boztug K,
|
||
Volpi S,
|
||
Gattorno M,
|
||
Caorsi R</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2022;13:937108.
|
||
Epub 2022 Sep 9
|
||
doi: 10.3389/fimmu.2022.937108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36159847" target="_blank">36159847</a><a href="/pmc/articles/PMC9503826" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33453130">Treating secondary antibody deficiency in patients with haematological malignancy: European expert consensus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jolles S,
|
||
Michallet M,
|
||
Agostini C,
|
||
Albert MH,
|
||
Edgar D,
|
||
Ria R,
|
||
Trentin L,
|
||
Lévy V</span><br />
|
||
<span class="medgenPMjournal">Eur J Haematol</span>
|
||
2021 Apr;106(4):439-449.
|
||
Epub 2021 Feb 2
|
||
doi: 10.1111/ejh.13580.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33453130" target="_blank">33453130</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31179555">Clinical, genetic and immunological characteristics of 40 Chinese patients with CD40 ligand deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Du X,
|
||
Tang W,
|
||
Chen X,
|
||
Zeng T,
|
||
Wang Y,
|
||
Chen Z,
|
||
Xu T,
|
||
Zhou L,
|
||
Tang X,
|
||
An Y,
|
||
Zhao X</span><br />
|
||
<span class="medgenPMjournal">Scand J Immunol</span>
|
||
2019 Oct;90(4):e12798.
|
||
Epub 2019 Jul 21
|
||
doi: 10.1111/sji.12798.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31179555" target="_blank">31179555</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28984901">Truly selective primary IgM deficiency is probably very rare.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Janssen LMA,
|
||
Macken T,
|
||
Creemers MCW,
|
||
Pruijt JFM,
|
||
Eijk JJJ,
|
||
de Vries E</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Immunol</span>
|
||
2018 Feb;191(2):203-211.
|
||
Epub 2017 Oct 27
|
||
doi: 10.1111/cei.13065.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28984901" target="_blank">28984901</a><a href="/pmc/articles/PMC5758373" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1554497">Immunodeficiency with hyper-IgM (HIM).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Notarangelo LD,
|
||
Duse M,
|
||
Ugazio AG</span><br />
|
||
<span class="medgenPMjournal">Immunodefic Rev</span>
|
||
1992;3(2):101-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1554497" target="_blank">1554497</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Recurrent%20infections%20associated%20with%20rare%20immunoglobulin%20isotypes%20deficiency%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 (21)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36159847">Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine deaminase 2 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Drago E,
|
||
Garbarino F,
|
||
Signa S,
|
||
Grossi A,
|
||
Schena F,
|
||
Penco F,
|
||
Santori E,
|
||
Candotti F,
|
||
Boztug K,
|
||
Volpi S,
|
||
Gattorno M,
|
||
Caorsi R</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2022;13:937108.
|
||
Epub 2022 Sep 9
|
||
doi: 10.3389/fimmu.2022.937108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36159847" target="_blank">36159847</a><a href="/pmc/articles/PMC9503826" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33453130">Treating secondary antibody deficiency in patients with haematological malignancy: European expert consensus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jolles S,
|
||
Michallet M,
|
||
Agostini C,
|
||
Albert MH,
|
||
Edgar D,
|
||
Ria R,
|
||
Trentin L,
|
||
Lévy V</span><br />
|
||
<span class="medgenPMjournal">Eur J Haematol</span>
|
||
2021 Apr;106(4):439-449.
|
||
Epub 2021 Feb 2
|
||
doi: 10.1111/ejh.13580.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33453130" target="_blank">33453130</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29420096">Gamma globulin replacement therapy in uncontrolled, severe asthma associated with humoral immunodeficiency: A series of five case reports.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tiotiu A,
|
||
Martinet Y,
|
||
Jankowski R,
|
||
Devillier P</span><br />
|
||
<span class="medgenPMjournal">J Asthma</span>
|
||
2019 Jan;56(1):79-83.
|
||
Epub 2018 Feb 8
|
||
doi: 10.1080/02770903.2018.1426768.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29420096" target="_blank">29420096</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19610268">Isolated growth hormone deficiency in a patient with immunoglobulin class switch recombination deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kashef S,
|
||
Ghaedian MM,
|
||
Rezaei N,
|
||
Karamizadeh Z,
|
||
Aghamohammadi A,
|
||
Durandy A,
|
||
Pan-Hammarstrom Q,
|
||
Hammarstrom L</span><br />
|
||
<span class="medgenPMjournal">J Investig Allergol Clin Immunol</span>
|
||
2009;19(3):233-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19610268" target="_blank">19610268</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1554497">Immunodeficiency with hyper-IgM (HIM).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Notarangelo LD,
|
||
Duse M,
|
||
Ugazio AG</span><br />
|
||
<span class="medgenPMjournal">Immunodefic Rev</span>
|
||
1992;3(2):101-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1554497" target="_blank">1554497</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Recurrent%20infections%20associated%20with%20rare%20immunoglobulin%20isotypes%20deficiency%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/17304889">Thymoma and immunodeficiency (Good syndrome): a report of 2 unusual cases and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agarwal S,
|
||
Cunningham-Rundles C</span><br />
|
||
<span class="medgenPMjournal">Ann Allergy Asthma Immunol</span>
|
||
2007 Feb;98(2):185-90.
|
||
doi: 10.1016/S1081-1206(10)60695-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17304889" target="_blank">17304889</a><a href="/pmc/articles/PMC3102047" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9713445">IgG subclasses in the serum and sputum from patients with bronchiectasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hill SL,
|
||
Mitchell JL,
|
||
Burnett D,
|
||
Stockley RA</span><br />
|
||
<span class="medgenPMjournal">Thorax</span>
|
||
1998 Jun;53(6):463-8.
|
||
doi: 10.1136/thx.53.6.463.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9713445" target="_blank">9713445</a><a href="/pmc/articles/PMC1745252" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1554497">Immunodeficiency with hyper-IgM (HIM).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Notarangelo LD,
|
||
Duse M,
|
||
Ugazio AG</span><br />
|
||
<span class="medgenPMjournal">Immunodefic Rev</span>
|
||
1992;3(2):101-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1554497" target="_blank">1554497</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2784795">Clinical and immunologic analyses of 103 patients with common variable immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cunningham-Rundles C</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
1989 Jan;9(1):22-33.
|
||
doi: 10.1007/BF00917124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2784795" target="_blank">2784795</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3279022">Clinical and immunologic aspects of the hyperimmunoglobulin E syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leung DY,
|
||
Geha RS</span><br />
|
||
<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
|
||
1988 Mar;2(1):81-100.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3279022" target="_blank">3279022</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Recurrent%20infections%20associated%20with%20rare%20immunoglobulin%20isotypes%20deficiency%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 (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32636843">Low IgA Associated With Oropharyngeal Microbiota Changes and Lung Disease in Primary Antibody Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berbers RM,
|
||
Mohamed Hoesein FAA,
|
||
Ellerbroek PM,
|
||
van Montfrans JM,
|
||
Dalm VASH,
|
||
van Hagen PM,
|
||
Paganelli FL,
|
||
Viveen MC,
|
||
Rogers MRC,
|
||
de Jong PA,
|
||
Uh HW,
|
||
Willems RJL,
|
||
Leavis HL</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2020;11:1245.
|
||
Epub 2020 Jun 19
|
||
doi: 10.3389/fimmu.2020.01245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32636843" target="_blank">32636843</a><a href="/pmc/articles/PMC7318304" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31179555">Clinical, genetic and immunological characteristics of 40 Chinese patients with CD40 ligand deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Du X,
|
||
Tang W,
|
||
Chen X,
|
||
Zeng T,
|
||
Wang Y,
|
||
Chen Z,
|
||
Xu T,
|
||
Zhou L,
|
||
Tang X,
|
||
An Y,
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Zhao X</span><br />
|
||
<span class="medgenPMjournal">Scand J Immunol</span>
|
||
2019 Oct;90(4):e12798.
|
||
Epub 2019 Jul 21
|
||
doi: 10.1111/sji.12798.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31179555" target="_blank">31179555</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28197791">Clinical Manifestations and Genetic Analysis of 17 Patients with Autosomal Dominant Hyper-IgE Syndrome in Mainland China: New Reports and a Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu J,
|
||
Chen J,
|
||
Tian ZQ,
|
||
Zhang H,
|
||
Gong RL,
|
||
Chen TX,
|
||
Hong L</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2017 Feb;37(2):166-179.
|
||
Epub 2017 Feb 14
|
||
doi: 10.1007/s10875-017-0369-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28197791" target="_blank">28197791</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9713445">IgG subclasses in the serum and sputum from patients with bronchiectasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hill SL,
|
||
Mitchell JL,
|
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Burnett D,
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Stockley RA</span><br />
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<span class="medgenPMjournal">Thorax</span>
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1998 Jun;53(6):463-8.
|
||
doi: 10.1136/thx.53.6.463.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9713445" target="_blank">9713445</a><a href="/pmc/articles/PMC1745252" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7915248">Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kroczek RA,
|
||
Graf D,
|
||
Brugnoni D,
|
||
Giliani S,
|
||
Korthüer U,
|
||
Ugazio A,
|
||
Senger G,
|
||
Mages HW,
|
||
Villa A,
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|
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<span class="medgenPMjournal">Immunol Rev</span>
|
||
1994 Apr;138:39-59.
|
||
doi: 10.1111/j.1600-065x.1994.tb00846.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7915248" target="_blank">7915248</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Recurrent%20infections%20associated%20with%20rare%20immunoglobulin%20isotypes%20deficiency%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 (6)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3279824%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
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