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<meta name="keywords" content="C5447452, bare lymphocyte syndrome, bare lymphocyte syndrome 2, bare lymphocyte syndrome type 2, bare lymphocyte syndrome type ii, bare lymphocyte syndrome, type 2, bare lymphocyte syndrome, type ii, bare lymphocyte syndrome, type ii, complementation group a, bare lymphocyte syndrome, type ii, complementation group b, bare lymphocyte syndrome, type ii, complementation group b, included, bare lymphocyte syndrome, type ii, complementation group c, bare lymphocyte syndrome, type ii, complementation group c, included, bare lymphocyte syndrome, type ii, complementation group d, bare lymphocyte syndrome, type ii, complementation group d, included, bare lymphocyte syndrome, type ii, complementation group e, bare lymphocyte syndrome, type ii, complementation group e, included, bls, bls 2, bls type ii, bls, type 2, bls, type ii, blsii, disease or syndrome, hla class 2-negative scid, hla class 2-negative severe combined immunodeficiency, immunodeficiency by defective expression of hla class 2, immunodeficiency by defective expression of hla class type 2, immunodeficiency by defective expression of mhc class ii, major histocompatibility complex class ii expression deficiency, mhc class ii deficiency, mhc class ii expression deficiency, scid due to absent class ii hla antigens, scid, hla class 2-negative, scid, hla class ii-negative, scid, hla class ii-negative bare lymphocyte syndrome, type ii, complementation group a, included, severe combined immunodeficiency, hla class ii negative, severe combined immunodeficiency, hla class ii-negative, 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="MHC class II deficiency (MHC2D), also known as bare lymphocyte syndrome type II (BLS type II), is a rare autosomal recessive primary immunodeficiency showing genetic heterogeneity. The disorder is characterized by the loss of expression of MHC class II antigens (HLA-DR, HLA-DQ, and HLA-DP) on antigen-presenting cells (APCs) resulting from mutations in regulatory genes required for proper transcription of the MHC class II genes. Affected individuals present in early infancy with severe recurrent infections (bacteria, viruses, fungi, and protozoa), usually affecting the gastrointestinal and respiratory tracts. Protracted diarrhea and failure to thrive is often present. About 20% of patients develop autoimmune features, mainly cytopenias. Laboratory studies show reduced CD4+ T cell counts with an inverted CD4:CD8 ratio, hypogammaglobulinemia, and abnormal lymphocyte proliferation to foreign antigens. Death in infancy or early childhood often occurs, although some patients may have longer survival. MHC type II deficiency may not detected by newborn screening for T-cell receptor excision circles (TRECs). Bone marrow transplantation may be curative, although complications are common (summary by Hanna and Etzioni, 2014; El Hawary et al., 2019). In HLA class II deficiency, the abnormal expression of HLA molecules has been shown to be secondary to defective synthesis (Lisowska-Grospierre et al., 1985), due in turn to an abnormal transacting regulatory gene located outside the major histocompatibility complex (MHC) (Marcadet et al., 1985; de Preval et al., 1985). The transacting regulatory factor, known as RFX, binds to class II promoters and is defective in hereditary HLA deficiency type II, otherwise known as the 'bare lymphocyte syndrome.' The failure of HLA expression leads to immunodeficiency affecting both cellular and humoral responses to antigens. DeSandro et al. (1999) reviewed the molecular bases of the several forms of MHC deficiency. Genetic Heterogeneity of MHC Class II Deficiency MHC2D2 (620815) is caused by mutation in the RFXANK gene (603200); MHC2D3 (620816) and MHC2D5 (620818) are caused by mutation in the RFX5 gene (601863); and MHC2D4 (620817) is caused by mutation in the RFXAP gene (601861). See also MHC class I deficiency (MHC1D1; 604571)." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
|
||
UID=1781237
|
||
ConceptID=C5447452
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">MHC class II deficiency</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1781237</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:">C5447452</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>Bare Lymphocyte Syndrome; Bare lymphocyte syndrome 2; BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A; BLS 2; BLS, TYPE II; SCID, HLA Class 2-Negative; SCID, HLA CLASS II-NEGATIVE; Severe combined immunodeficiency, HLA class II negative</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/8625">RFXANK</a>, <a target="_blank" href="/gene/5994">RFXAP</a>, <a target="_blank" href="/gene/5993">RFX5</a>, <a target="_blank" href="/gene/4261">CIITA</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008855" target="_blank">MONDO:0008855</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS209920" target="_blank">PS209920</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=572">ORPHA572</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">
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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">MHC class II deficiency (MHC2D), also known as bare lymphocyte syndrome type II (BLS type II), is a rare autosomal recessive primary immunodeficiency showing genetic heterogeneity. The disorder is characterized by the loss of expression of MHC class II antigens (HLA-DR, HLA-DQ, and HLA-DP) on antigen-presenting cells (APCs) resulting from mutations in regulatory genes required for proper transcription of the MHC class II genes. Affected individuals present in early infancy with severe recurrent infections (bacteria, viruses, fungi, and protozoa), usually affecting the gastrointestinal and respiratory tracts. Protracted diarrhea and failure to thrive is often present. About 20% of patients develop autoimmune features, mainly cytopenias. Laboratory studies show reduced CD4+ T cell counts with an inverted CD4:CD8 ratio, hypogammaglobulinemia, and abnormal lymphocyte proliferation to foreign antigens. Death in infancy or early childhood often occurs, although some patients may have longer survival. MHC type II deficiency may not detected by newborn screening for T-cell receptor excision circles (TRECs). Bone marrow transplantation may be curative, although complications are common (summary by Hanna and Etzioni, 2014; El Hawary et al., 2019). In HLA class II deficiency, the abnormal expression of HLA molecules has been shown to be secondary to defective synthesis (Lisowska-Grospierre et al., 1985), due in turn to an abnormal transacting regulatory gene located outside the major histocompatibility complex (MHC) (Marcadet et al., 1985; de Preval et al., 1985). The transacting regulatory factor, known as RFX, binds to class II promoters and is defective in hereditary HLA deficiency type II, otherwise known as the 'bare lymphocyte syndrome.' The failure of HLA expression leads to immunodeficiency affecting both cellular and humoral responses to antigens. DeSandro et al. (1999) reviewed the molecular bases of the several forms of MHC deficiency. Genetic Heterogeneity of MHC Class II Deficiency MHC2D2 (620815) is caused by mutation in the RFXANK gene (603200); MHC2D3 (620816) and MHC2D5 (620818) are caused by mutation in the RFX5 gene (601863); and MHC2D4 (620817) is caused by mutation in the RFXAP gene (601861). See also MHC class I deficiency (MHC1D1; 604571). [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_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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5447452[DISCUI]&test_type=Clinical" ref="ncbi_uid=1781237">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=1781237" ref="ncbi_uid=1781237">V</a></span></span><span class="TLline">MHC class II deficiency</span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/1052659" ref="tree=GTR&ncbi_uid=1052659&link_uid=1052659" title="View MedGen record for 'MHC class II deficiency 1'">MHC class II deficiency 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=C1859535[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=347904">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347904" target="_blank" href="/omim/603200">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=347904" ref="ncbi_uid=347904">V</a></span></span><span class="TLline"><a href="/medgen/347904" ref="tree=GTR&ncbi_uid=347904&link_uid=347904" title="View MedGen record for 'MHC class II deficiency 2'">MHC class II deficiency 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=C1859536[DISCUI]&test_type=Clinical" ref="ncbi_uid=347175">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347175" target="_blank" href="/omim/601863">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=347175" ref="ncbi_uid=347175">V</a></span></span><span class="TLline"><a href="/medgen/347175" ref="tree=GTR&ncbi_uid=347175&link_uid=347175" title="View MedGen record for 'MHC class II deficiency 3'">MHC class II deficiency 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=C1859537[DISCUI]&test_type=Clinical" ref="ncbi_uid=347176">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347176" target="_blank" href="/omim/601861">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=347176" ref="ncbi_uid=347176">V</a></span></span><span class="TLline"><a href="/medgen/347176" ref="tree=GTR&ncbi_uid=347176&link_uid=347176" title="View MedGen record for 'MHC class II deficiency 4'">MHC class II deficiency 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=C1859538[DISCUI]&test_type=Clinical" ref="ncbi_uid=349183">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349183" target="_blank" href="/omim/601863">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=349183" ref="ncbi_uid=349183">V</a></span></span><span class="TLline"><a href="/medgen/349183" ref="tree=GTR&ncbi_uid=349183&link_uid=349183" title="View MedGen record for 'MHC class II deficiency 5'">MHC class II deficiency 5</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/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/232638" ref="tree=MeSH" title="MedGen record for Immune System and Related Disorders">Immune System and Related Disorders</a></span><ul><li><span class="TLline"><a href="/medgen/5759" ref="tree=MeSH" title="MedGen record for Immune system disorder">Immune system disorder</a></span><ul><li><span class="TLline"><a href="/medgen/2135" ref="tree=MeSH" title="MedGen record for Autoimmune disease">Autoimmune disease</a></span><ul><li><span class="TLline"><a href="/medgen/83322" ref="tree=MeSH" title="MedGen record for Autoimmune enteropathy">Autoimmune enteropathy</a></span><ul><li><span class="matched_ds">MHC class II deficiency</span><ul><li><span class="TLline"><a href="/medgen/1052659" ref="tree=MeSH" title="MedGen record for MHC class II deficiency 1">MHC class II deficiency 1</a></span></li><li><span class="TLline"><a href="/medgen/347904" ref="tree=MeSH" title="MedGen record for MHC class II deficiency 2">MHC class II deficiency 2</a></span></li><li><span class="TLline"><a href="/medgen/347175" ref="tree=MeSH" title="MedGen record for MHC class II deficiency 3">MHC class II deficiency 3</a></span></li><li><span class="TLline"><a href="/medgen/347176" ref="tree=MeSH" title="MedGen record for MHC class II deficiency 4">MHC class II deficiency 4</a></span></li><li><span class="TLline"><a href="/medgen/349183" ref="tree=MeSH" title="MedGen record for MHC class II deficiency 5">MHC class II deficiency 5</a></span></li></ul></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/24535004">Rapid Flow cytometric prenatal diagnosis of primary immunodeficiency (PID) disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mishra A,
|
||
Gupta M,
|
||
Dalvi A,
|
||
Ghosh K,
|
||
Madkaikar M</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2014 Apr;34(3):316-22.
|
||
Epub 2014 Feb 18
|
||
doi: 10.1007/s10875-014-9993-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24535004" target="_blank">24535004</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20493394">Hematopoietic stem cell transplantation and other management strategies for MHC class II deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Picard C,
|
||
Fischer A</span><br />
|
||
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
|
||
2010 May;30(2):173-8.
|
||
doi: 10.1016/j.iac.2010.01.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20493394" target="_blank">20493394</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22mhc%20class%20ii%20deficiency%22%5Btiab%3A~0%5D)%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 (2)</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/38996837">MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gulec Koksal Z,
|
||
Bilgic Eltan S,
|
||
Topyildiz E,
|
||
Sezer A,
|
||
Keles S,
|
||
Celebi Celik F,
|
||
Ozhan Kont A,
|
||
Gemici Karaaslan B,
|
||
Sefer AP,
|
||
Karali Z,
|
||
Arik E,
|
||
Ozek Yucel E,
|
||
Akcal O,
|
||
Karakurt LT,
|
||
Yorgun Altunbas M,
|
||
Yalcin K,
|
||
Uygun V,
|
||
Ozek G,
|
||
Babayeva R,
|
||
Aydogmus C,
|
||
Ozcan D,
|
||
Cavkaytar O,
|
||
Keskin O,
|
||
Kilic SS,
|
||
Kiykim A,
|
||
Arikoglu T,
|
||
Genel F,
|
||
Gulez N,
|
||
Guner SN,
|
||
Karaca NE,
|
||
Reisli I,
|
||
Kutukculer N,
|
||
Altintas DU,
|
||
Ozen A,
|
||
Karakoc Aydiner E,
|
||
Baris S</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2024 Sep;12(9):2490-2502.e6.
|
||
Epub 2024 Jul 10
|
||
doi: 10.1016/j.jaip.2024.06.046.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38996837" target="_blank">38996837</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38441205">A large single-center cohort of bare lymphocyte syndrome: Immunological and genetic features in Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ünsal H,
|
||
Caka C,
|
||
Bildik HN,
|
||
Esenboğa S,
|
||
Kupesiz A,
|
||
Kuşkonmaz B,
|
||
Cetinkaya DU,
|
||
van der Burg M,
|
||
Tezcan İ,
|
||
Çağdaş D</span><br />
|
||
<span class="medgenPMjournal">Scand J Immunol</span>
|
||
2024 Jan;99(1):e13335.
|
||
Epub 2023 Oct 15
|
||
doi: 10.1111/sji.13335.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38441205" target="_blank">38441205</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25001848">MHC class I and II deficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hanna S,
|
||
Etzioni A</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2014 Aug;134(2):269-75.
|
||
Epub 2014 Jul 4
|
||
doi: 10.1016/j.jaci.2014.06.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25001848" target="_blank">25001848</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10999878">Clinical course of patients with major histocompatibility complex class II deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saleem MA,
|
||
Arkwright PD,
|
||
Davies EG,
|
||
Cant AJ,
|
||
Veys PA</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2000 Oct;83(4):356-9.
|
||
doi: 10.1136/adc.83.4.356.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10999878" target="_blank">10999878</a><a href="/pmc/articles/PMC1718526" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9442397">MHC class II deficiency: definition of a new complementation group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Villard J,
|
||
Mach B,
|
||
Reith W</span><br />
|
||
<span class="medgenPMjournal">Immunobiology</span>
|
||
1997 Dec;198(1-3):264-72.
|
||
doi: 10.1016/S0171-2985(97)80046-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9442397" target="_blank">9442397</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22MHC%20class%20II%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 (27)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38996837">MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gulec Koksal Z,
|
||
Bilgic Eltan S,
|
||
Topyildiz E,
|
||
Sezer A,
|
||
Keles S,
|
||
Celebi Celik F,
|
||
Ozhan Kont A,
|
||
Gemici Karaaslan B,
|
||
Sefer AP,
|
||
Karali Z,
|
||
Arik E,
|
||
Ozek Yucel E,
|
||
Akcal O,
|
||
Karakurt LT,
|
||
Yorgun Altunbas M,
|
||
Yalcin K,
|
||
Uygun V,
|
||
Ozek G,
|
||
Babayeva R,
|
||
Aydogmus C,
|
||
Ozcan D,
|
||
Cavkaytar O,
|
||
Keskin O,
|
||
Kilic SS,
|
||
Kiykim A,
|
||
Arikoglu T,
|
||
Genel F,
|
||
Gulez N,
|
||
Guner SN,
|
||
Karaca NE,
|
||
Reisli I,
|
||
Kutukculer N,
|
||
Altintas DU,
|
||
Ozen A,
|
||
Karakoc Aydiner E,
|
||
Baris S</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2024 Sep;12(9):2490-2502.e6.
|
||
Epub 2024 Jul 10
|
||
doi: 10.1016/j.jaip.2024.06.046.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38996837" target="_blank">38996837</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38424321">Novel Presentation of Major Histocompatibility Complex Class II Deficiency with Hemophagocytic Lymphohistiocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alroqi FJ,
|
||
Alhezam MA,
|
||
Almojali AI,
|
||
Barhoumi T,
|
||
Althubaiti N,
|
||
Alharbi Y,
|
||
Al Balwi MA,
|
||
Alrasheed A</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2024 Mar 1;44(3):73.
|
||
doi: 10.1007/s10875-024-01674-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38424321" target="_blank">38424321</a><a href="/pmc/articles/PMC10904449" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31932845">Improved transplant survival and long-term disease outcome in children with MHC class II deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lum SH,
|
||
Anderson C,
|
||
McNaughton P,
|
||
Engelhardt KR,
|
||
MacKenzie B,
|
||
Watson H,
|
||
Al-Mousa H,
|
||
Al-Herz W,
|
||
Al-Saud B,
|
||
Mohammed R,
|
||
Al-Zahrani DM,
|
||
Alghamdi HA,
|
||
Goronfolah L,
|
||
Nademi Z,
|
||
Habibollah S,
|
||
Flinn AM,
|
||
Shillitoe B,
|
||
Owens S,
|
||
Williams E,
|
||
Emonts M,
|
||
Hambleton S,
|
||
Abinun M,
|
||
Flood T,
|
||
Cant A,
|
||
Gennery AR,
|
||
Slatter M</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2020 Mar 19;135(12):954-973.
|
||
doi: 10.1182/blood.2019002690.
|
||
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22MHC%20class%20II%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 (16)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38996837">MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort.</a></div>
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Ozek G,
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Babayeva R,
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Genel F,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22MHC%20class%20II%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 (15)</a></div></div>
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</div>
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</div></div></div></div></div></div></div>
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|
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
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|
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|
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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><li><a href="/gtr/tests?term=C5447452%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (27)</a></li>
|
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<li><a href="/gtr/tests?term=C5447452%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C5447452%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (41)</a></li>
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<li><a href="/gtr/tests?term=C5447452%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5447452%5bDISCUI%5d" target="_blank">See all (51)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS209920" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=572" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=MHC%20class%20II%20deficiency" target="_blank">ClinicalTrials.gov</a></li></ul></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=(%22mhc%20class%20ii%20deficiency%22%5Btiab%3A~0%5D)%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>
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