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<meta name="keywords" content="C0004368, autoimmune condition, autoimmune disease, autoimmune disorder, autoimmune state, autoimmune status, autoimmunities, autoimmunity, pathologic function, 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="The occurrence of an immune reaction against the organism's own cells or tissues." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=2136
|
||
ConceptID=C0004368
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autoimmunity</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2136</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:">C0004368</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Autoimmunities</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Autoimmune state (4301008); Autoimmunity (4301008)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002960">HP:0002960</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">The occurrence of an immune reaction against the organism's own cells or tissues. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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<div class="portlet mgSection" id="ID_118">
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<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>
|
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<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=C0004368[DISCUI]&test_type=Clinical" ref="ncbi_uid=2136">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=2136" ref="ncbi_uid=2136">V</a></span></span><span class="TLline">Autoimmunity</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867388" ref="tree=MeSH" title="MedGen record for Abnormality of the immune system">Abnormality of the immune system</a></span><ul><li><span class="TLline"><a href="/medgen/869194" ref="tree=MeSH" title="MedGen record for Abnormality of immune system physiology">Abnormality of immune system physiology</a></span><ul><li><span class="matched_ds">Autoimmunity</span><ul><li><span class="TLline"><a href="/medgen/868268" ref="tree=MeSH" title="MedGen record for Autoimmune antibody positivity">Autoimmune antibody positivity</a></span><ul><li><span class="TLline"><a href="/medgen/1814239" ref="tree=MeSH" title="MedGen record for Anti-21-hydroxylase antibody positivity">Anti-21-hydroxylase antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1787132" ref="tree=MeSH" title="MedGen record for Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity">Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/868186" ref="tree=MeSH" title="MedGen record for Anti-acetylcholine receptor antibody positivity">Anti-acetylcholine receptor antibody positivity</a></span><ul><li><span class="TLline"><a href="/medgen/1054154" ref="tree=MeSH" title="MedGen record for Anti-ganglionic acetylcholine receptor antibody positivity">Anti-ganglionic acetylcholine receptor antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1055518" ref="tree=MeSH" title="MedGen record for Anti-neuromuscular Junction acetylcholine receptor antibody positivity">Anti-neuromuscular Junction acetylcholine receptor antibody positivity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1864286" ref="tree=MeSH" title="MedGen record for Anti-ADAMTS13 antibody positivity">Anti-ADAMTS13 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814135" ref="tree=MeSH" title="MedGen record for Anti-AK5 antibody positivity">Anti-AK5 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814312" ref="tree=MeSH" title="MedGen record for Anti-aminoacyl-tRNA synthetase antibody positivity">Anti-aminoacyl-tRNA synthetase antibody positivity</a></span><ul><li><span class="TLline"><a href="/medgen/1814310" ref="tree=MeSH" title="MedGen record for Anti-alanyl-tRNA synthetase antibody positivity">Anti-alanyl-tRNA synthetase antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814316" ref="tree=MeSH" title="MedGen record for Anti-asparaginyl-tRNA synthetase antibody positivity">Anti-asparaginyl-tRNA synthetase antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814311" ref="tree=MeSH" title="MedGen record for Anti-glycyl tRNA-synthetase antibody positivity">Anti-glycyl tRNA-synthetase antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814313" ref="tree=MeSH" title="MedGen record for Anti-isoleucyl tRNA-synthetase antibody positivity">Anti-isoleucyl tRNA-synthetase antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814314" ref="tree=MeSH" title="MedGen record for Anti-phenylalanyl tRNA synthetase antibody positivity">Anti-phenylalanyl tRNA synthetase antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814308" ref="tree=MeSH" title="MedGen record for Anti-threonyl-tRNA synthetase antibody positivity">Anti-threonyl-tRNA synthetase antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814315" ref="tree=MeSH" title="MedGen record for Anti-tyrosyl-tRNA synthetase antibody positivity">Anti-tyrosyl-tRNA synthetase antibody positivity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1800802" ref="tree=MeSH" title="MedGen record for Anti-AMPAR antibody positivity">Anti-AMPAR antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1789667" ref="tree=MeSH" title="MedGen record for Anti-Amphiphysin antibody">Anti-Amphiphysin antibody</a></span></li><li><span class="TLline"><a href="/medgen/1814260" ref="tree=MeSH" title="MedGen record for Anti-angiotensin receptor type-1 antibody positivity">Anti-angiotensin receptor type-1 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814282" ref="tree=MeSH" title="MedGen record for Anti-angiotensin-converting enzyme 2 antibody positivity">Anti-angiotensin-converting enzyme 2 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863866" ref="tree=MeSH" title="MedGen record for Anti-annexin A5 antibody positivity">Anti-annexin A5 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814267" ref="tree=MeSH" title="MedGen record for Anti-annexin-V antibody positivity">Anti-annexin-V antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1054855" ref="tree=MeSH" title="MedGen record for Anti-apolipoprotein CII autoantibody positivity">Anti-apolipoprotein CII autoantibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1787176" ref="tree=MeSH" title="MedGen record for Anti-aquaporin 4 antibody positivity">Anti-aquaporin 4 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1813973" ref="tree=MeSH" title="MedGen record for Anti-ARHGAP26 antibody">Anti-ARHGAP26 antibody</a></span></li><li><span class="TLline"><a href="/medgen/1699942" ref="tree=MeSH" title="MedGen record for Anti-asialoglycoprotein receptor antibody positivity">Anti-asialoglycoprotein receptor antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814255" ref="tree=MeSH" title="MedGen record for Anti-B23 antibody positivity">Anti-B23 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1706080" ref="tree=MeSH" title="MedGen record for Anti-beta 2 glycoprotein I antibody positivity">Anti-beta 2 glycoprotein I antibody positivity</a></span><ul><li><span class="TLline"><a href="/medgen/1814321" ref="tree=MeSH" title="MedGen record for Anti-beta-2-Glycoprotein I IgG antibody positivity">Anti-beta-2-Glycoprotein I IgG antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814322" ref="tree=MeSH" title="MedGen record for Anti-beta-2-Glycoprotein I IgM antibody positivity">Anti-beta-2-Glycoprotein I IgM antibody positivity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1864248" ref="tree=MeSH" title="MedGen record for Anti-beta fodrin antibody positivity">Anti-beta fodrin antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814248" ref="tree=MeSH" title="MedGen record for Anti-bicaudal D2 antibody positivity">Anti-bicaudal D2 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1786093" ref="tree=MeSH" title="MedGen record for Anti-BP180 antibody positivity">Anti-BP180 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1778595" ref="tree=MeSH" title="MedGen record for Anti-BP230 antibody positivity">Anti-BP230 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1783067" ref="tree=MeSH" title="MedGen record for Anti-carbonic anhydrase II antibody positivity">Anti-carbonic anhydrase II antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814235" ref="tree=MeSH" title="MedGen record for Anti-carbonic anhydrase VI antibody positivity">Anti-carbonic anhydrase VI antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1813972" ref="tree=MeSH" title="MedGen record for Anti-CARP VIII antibody">Anti-CARP VIII antibody</a></span></li><li><span class="TLline"><a href="/medgen/1814136" ref="tree=MeSH" title="MedGen record for Anti-CASPR2">Anti-CASPR2</a></span></li><li><span class="TLline"><a href="/medgen/1814244" ref="tree=MeSH" title="MedGen record for Anti-centromere protein A antibody positivity">Anti-centromere protein A antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814245" ref="tree=MeSH" title="MedGen record for Anti-centromere protein B antibody positivity">Anti-centromere protein B antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1767562" ref="tree=MeSH" title="MedGen record for Anti-citrullinated protein antibody positivity">Anti-citrullinated protein antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863607" ref="tree=MeSH" title="MedGen record for Anti-coagulation factor antibody positivity">Anti-coagulation factor antibody positivity</a></span><ul><li><span class="TLline"><a href="/medgen/1863721" ref="tree=MeSH" title="MedGen record for Anti-factor H antibody positivity">Anti-factor H antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863591" ref="tree=MeSH" title="MedGen record for Anti-factor IX antibody positivity">Anti-factor IX antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863430" ref="tree=MeSH" title="MedGen record for Anti-factor V antibody positivity">Anti-factor V antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863435" ref="tree=MeSH" title="MedGen record for Anti-factor VII antibody positivity">Anti-factor VII antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1864310" ref="tree=MeSH" title="MedGen record for Anti-factor VIII antibody positivity">Anti-factor VIII antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863690" ref="tree=MeSH" title="MedGen record for Anti-factor X antibody positivity">Anti-factor X antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863815" ref="tree=MeSH" title="MedGen record for Anti-factor XI antibody positivity">Anti-factor XI antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863886" ref="tree=MeSH" title="MedGen record for Anti-factor XIII antibody positivity">Anti-factor XIII antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863793" ref="tree=MeSH" title="MedGen record for Anti-prothrombin antibody positivity">Anti-prothrombin antibody positivity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1813060" ref="tree=MeSH" title="MedGen record for Anti-complement component C1q antibody positivity">Anti-complement component C1q antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814110" ref="tree=MeSH" title="MedGen record for Anti-Complement factor H antibody positivity">Anti-Complement factor H antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814302" ref="tree=MeSH" title="MedGen record for Anti-contactin-1 antibody positivity">Anti-contactin-1 antibody positivity</a></span><ul><li><span class="TLline"><a href="/medgen/1814303" ref="tree=MeSH" title="MedGen record for Anti-contactin-associated protein 1 antibody positivity">Anti-contactin-associated protein 1 antibody positivity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1813978" ref="tree=MeSH" title="MedGen record for Anti-CV2/CRMP5 antibody positivity">Anti-CV2/CRMP5 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814258" ref="tree=MeSH" title="MedGen record for Anti-cyclic citrullinated peptide antibody positivity">Anti-cyclic citrullinated peptide antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814318" ref="tree=MeSH" title="MedGen record for Anti-cytosolic-5-nucleotidase-1A antibody positivity">Anti-cytosolic-5-nucleotidase-1A antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1864303" ref="tree=MeSH" title="MedGen record for Anti-D-L antibody positivity">Anti-D-L antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814160" ref="tree=MeSH" title="MedGen record for Anti-D2 R antibody">Anti-D2 R antibody</a></span></li><li><span class="TLline"><a href="/medgen/1864176" ref="tree=MeSH" title="MedGen record for Anti-dachshund family transcription factor 1 antibody positivity">Anti-dachshund family transcription factor 1 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863682" ref="tree=MeSH" title="MedGen record for Anti-DCC netrin 1 receptor antibody positivity">Anti-DCC netrin 1 receptor antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1864051" ref="tree=MeSH" title="MedGen record for Anti-desmocollin antibody positivity">Anti-desmocollin antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1782223" ref="tree=MeSH" title="MedGen record for Anti-desmoglein-1 antibody positivity">Anti-desmoglein-1 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1784825" ref="tree=MeSH" title="MedGen record for Anti-desmoglein-3 antibody positivity">Anti-desmoglein-3 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1787136" ref="tree=MeSH" title="MedGen record for Anti-desmoplakin I antibody positivity">Anti-desmoplakin I antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1779117" ref="tree=MeSH" title="MedGen record for Anti-desmoplakin II antibody positivity">Anti-desmoplakin II antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814137" ref="tree=MeSH" title="MedGen record for Anti-DPPX antibody">Anti-DPPX antibody</a></span></li><li><span class="TLline"><a href="/medgen/1052437" ref="tree=MeSH" title="MedGen record for Anti-DREBRIN antibody positivity">Anti-DREBRIN antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814261" ref="tree=MeSH" title="MedGen record for Anti-endothelin-1 type A receptor antibody positivity">Anti-endothelin-1 type A receptor antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814238" ref="tree=MeSH" title="MedGen record for Anti-enterocyte antibody positivity">Anti-enterocyte antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1785689" ref="tree=MeSH" title="MedGen record for Anti-envoplakin antibody positivity">Anti-envoplakin antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863869" ref="tree=MeSH" title="MedGen record for Anti-erythrocyte autoantibody positivity">Anti-erythrocyte autoantibody positivity</a></span><ul><li><span class="TLline"><a href="/medgen/1863419" ref="tree=MeSH" title="MedGen record for Positive cold agglutinin test">Positive cold agglutinin test</a></span></li><li><span class="TLline"><a href="/medgen/1694410" ref="tree=MeSH" title="MedGen record for Positive direct antiglobulin test">Positive direct antiglobulin test</a></span></li><li><span class="TLline"><a href="/medgen/1390163" ref="tree=MeSH" title="MedGen record for Warm reactive autoantibody positivity">Warm reactive autoantibody positivity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814138" ref="tree=MeSH" title="MedGen record for Anti-FGFR3 antibody positivity">Anti-FGFR3 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863808" ref="tree=MeSH" title="MedGen record for Anti-folate receptor antibody positivity">Anti-folate receptor antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814139" ref="tree=MeSH" title="MedGen record for Anti-GABA(A)R antibody">Anti-GABA(A)R antibody</a></span></li><li><span class="TLline"><a href="/medgen/1814140" ref="tree=MeSH" title="MedGen record for Anti-GABA(B)R antibody">Anti-GABA(B)R antibody</a></span></li><li><span class="TLline"><a href="/medgen/1814141" ref="tree=MeSH" title="MedGen record for Anti-GAD65 antibody">Anti-GAD65 antibody</a></span></li><li><span class="TLline"><a href="/medgen/1670349" ref="tree=MeSH" title="MedGen record for Anti-ganglioside antibody positivity">Anti-ganglioside antibody positivity</a></span><ul><li><span class="TLline"><a href="/medgen/1814286" ref="tree=MeSH" title="MedGen record for Anti-GD1a antibody positivity">Anti-GD1a antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814289" ref="tree=MeSH" title="MedGen record for Anti-GD1b antibody positivity">Anti-GD1b antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814269" ref="tree=MeSH" title="MedGen record for Anti-GM1 antibody positivity">Anti-GM1 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814297" ref="tree=MeSH" title="MedGen record for Anti-GM2 antibody positivity">Anti-GM2 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814298" ref="tree=MeSH" title="MedGen record for Anti-GM3 antibody positivity">Anti-GM3 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814299" ref="tree=MeSH" title="MedGen record for Anti-GM4 antibody positivity">Anti-GM4 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814287" ref="tree=MeSH" title="MedGen record for Anti-GQ1b antibody positivity">Anti-GQ1b antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814293" ref="tree=MeSH" title="MedGen record for Anti-GT1a antibody positivity">Anti-GT1a antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814296" ref="tree=MeSH" title="MedGen record for Anti-GT1b antibody positivity">Anti-GT1b antibody positivity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814142" ref="tree=MeSH" title="MedGen record for Anti-Gephyrin antibody">Anti-Gephyrin antibody</a></span></li><li><span class="TLline"><a href="/medgen/1814276" ref="tree=MeSH" title="MedGen record for Anti-Gerbich phenotype 1 antibody positivity">Anti-Gerbich phenotype 1 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1813974" ref="tree=MeSH" title="MedGen record for Anti-GFAP antibody">Anti-GFAP antibody</a></span></li><li><span class="TLline"><a href="/medgen/1747042" ref="tree=MeSH" title="MedGen record for Anti-glomerular basement membrane-antibody positivity">Anti-glomerular basement membrane-antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1813975" ref="tree=MeSH" title="MedGen record for Anti-GluK2 antibody">Anti-GluK2 antibody</a></span></li><li><span class="TLline"><a href="/medgen/1863568" ref="tree=MeSH" title="MedGen record for Anti-Glutamate Receptor delta2 antibody positivity">Anti-Glutamate Receptor delta2 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1370651" ref="tree=MeSH" title="MedGen record for Anti-glutamic acid decarboxylase antibody positivity">Anti-glutamic acid decarboxylase antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1788704" ref="tree=MeSH" title="MedGen record for Anti-glycoprotein-210 antibody positivity">Anti-glycoprotein-210 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1864222" ref="tree=MeSH" title="MedGen record for Anti-glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1 antibody positivity">Anti-glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1800813" ref="tree=MeSH" title="MedGen record for Anti-GlyR antibody">Anti-GlyR antibody</a></span></li><li><span class="TLline"><a href="/medgen/1640956" ref="tree=MeSH" title="MedGen record for Anti-granulocyte-macrophage colony stimulating factor antibody positivity">Anti-granulocyte-macrophage colony stimulating factor antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814275" ref="tree=MeSH" title="MedGen record for Anti-GW182 antibody positivity">Anti-GW182 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814279" ref="tree=MeSH" title="MedGen record for Anti-hexokinase-1 antibody positivity">Anti-hexokinase-1 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814119" ref="tree=MeSH" title="MedGen record for Anti-HLA antibody positivity">Anti-HLA antibody positivity</a></span><ul><li><span class="TLline"><a href="/medgen/1814120" ref="tree=MeSH" title="MedGen record for Anti-class I HLA antibody positivity">Anti-class I HLA antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814121" ref="tree=MeSH" title="MedGen record for Anti-class II HLA antibody positivity">Anti-class II HLA antibody positivity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814143" ref="tree=MeSH" title="MedGen record for Anti-Homer-3 antibody">Anti-Homer-3 antibody</a></span></li><li><span class="TLline"><a href="/medgen/1800801" ref="tree=MeSH" title="MedGen record for Anti-Hu antibody positivity">Anti-Hu antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1864049" ref="tree=MeSH" title="MedGen record for Anti-human ferritin peptide antibody positivity">Anti-human ferritin peptide antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814144" ref="tree=MeSH" title="MedGen record for Anti-Iglon5 antibody">Anti-Iglon5 antibody</a></span></li><li><span class="TLline"><a href="/medgen/1814183" ref="tree=MeSH" title="MedGen record for Anti-insulin antibody positivity">Anti-insulin antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1784328" ref="tree=MeSH" title="MedGen record for Anti-integrin antibody positivity">Anti-integrin antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863699" ref="tree=MeSH" title="MedGen record for Anti-intrinsic factor antibody positivity">Anti-intrinsic factor antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1813068" ref="tree=MeSH" title="MedGen record for Anti-islet antigen-2 antibody positivity">Anti-islet antigen-2 antibody positivity</a></span><ul><li><span class="TLline"><a href="/medgen/1814323" ref="tree=MeSH" title="MedGen record for Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity">Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814145" ref="tree=MeSH" title="MedGen record for Anti-ITPR1 antibody">Anti-ITPR1 antibody</a></span></li><li><span class="TLline"><a href="/medgen/1814146" ref="tree=MeSH" title="MedGen record for Anti-Kelch like protein 11 antibody positivity">Anti-Kelch like protein 11 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814280" ref="tree=MeSH" title="MedGen record for Anti-Kelch like protein 12 antibody positivity">Anti-Kelch like protein 12 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814319" ref="tree=MeSH" title="MedGen record for Anti-Ki antibody positivity">Anti-Ki antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814254" ref="tree=MeSH" title="MedGen record for Anti-Ku antibody positivity">Anti-Ku antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814162" ref="tree=MeSH" title="MedGen record for Anti-Kv1.4 antibody">Anti-Kv1.4 antibody</a></span></li><li><span class="TLline"><a href="/medgen/1787182" ref="tree=MeSH" title="MedGen record for Anti-LABD97 antibody positivity">Anti-LABD97 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1783744" ref="tree=MeSH" title="MedGen record for Anti-LAD-1 antibody positivity">Anti-LAD-1 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863915" ref="tree=MeSH" title="MedGen record for Anti-lamin A antibody positivity">Anti-lamin A antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1864192" ref="tree=MeSH" title="MedGen record for Anti-lamin C antibody positivity">Anti-lamin C antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1782700" ref="tree=MeSH" title="MedGen record for Anti-laminin antibody positivity">Anti-laminin antibody positivity</a></span><ul><li><span class="TLline"><a href="/medgen/1784210" ref="tree=MeSH" title="MedGen record for Anti-laminin 332 antibody positivity">Anti-laminin 332 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1789055" ref="tree=MeSH" title="MedGen record for Anti-laminin 6 antibody positivity">Anti-laminin 6 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1783250" ref="tree=MeSH" title="MedGen record for Anti-laminin gamma1 antibody positivity">Anti-laminin gamma1 antibody positivity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814147" ref="tree=MeSH" title="MedGen record for Anti-LGI1 antibody">Anti-LGI1 antibody</a></span></li><li><span class="TLline"><a href="/medgen/1053442" ref="tree=MeSH" title="MedGen record for Anti-lipoprotein lipase autoantibody positivity">Anti-lipoprotein lipase autoantibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/927585" ref="tree=MeSH" title="MedGen record for Anti-liver cytosolic antigen type 1 antibody positivity">Anti-liver cytosolic antigen type 1 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814161" ref="tree=MeSH" title="MedGen record for Anti-Lrp4 antibody positivity">Anti-Lrp4 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814428" ref="tree=MeSH" title="MedGen record for Anti-Ma antibody positivity">Anti-Ma antibody positivity</a></span><ul><li><span class="TLline"><a href="/medgen/1814429" ref="tree=MeSH" title="MedGen record for Anti-Ma1 antibody positivity">Anti-Ma1 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1813977" ref="tree=MeSH" title="MedGen record for Anti-Ma2 antibody positivity">Anti-Ma2 antibody positivity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814152" ref="tree=MeSH" title="MedGen record for Anti-MAP1B antibody">Anti-MAP1B antibody</a></span></li><li><span class="TLline"><a href="/medgen/1762122" ref="tree=MeSH" title="MedGen record for Anti-MDA5 antibody positivity">Anti-MDA5 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814148" ref="tree=MeSH" title="MedGen record for Anti-mGluR1 antibody">Anti-mGluR1 antibody</a></span></li><li><span class="TLline"><a href="/medgen/1814149" ref="tree=MeSH" title="MedGen record for Anti-mGluR5 antibody">Anti-mGluR5 antibody</a></span></li><li><span class="TLline"><a href="/medgen/1814277" ref="tree=MeSH" title="MedGen record for Anti-MIT3 antibody positivity">Anti-MIT3 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1647490" ref="tree=MeSH" title="MedGen record for Anti-mitochondrial M2 antibody positivity">Anti-mitochondrial M2 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/866697" ref="tree=MeSH" title="MedGen record for Anti-muscle-specific tyrosine kinase antibody">Anti-muscle-specific tyrosine kinase antibody</a></span></li><li><span class="TLline"><a href="/medgen/1706881" ref="tree=MeSH" title="MedGen record for Anti-myelin oligodendrocyte glycoprotein antibody positivity">Anti-myelin oligodendrocyte glycoprotein antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1707501" ref="tree=MeSH" title="MedGen record for Anti-myelin-associated glycoprotein antibody positivity">Anti-myelin-associated glycoprotein antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814150" ref="tree=MeSH" title="MedGen record for Anti-neurexin-3alpha antibody positivity">Anti-neurexin-3alpha antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863494" ref="tree=MeSH" title="MedGen record for Anti-neurochondrin antibody positivity">Anti-neurochondrin antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814301" ref="tree=MeSH" title="MedGen record for Anti-neurofascin 186 antibody positivity">Anti-neurofascin 186 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814300" ref="tree=MeSH" title="MedGen record for Anti-neurofascin-155 antibody positivity">Anti-neurofascin-155 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1053993" ref="tree=MeSH" title="MedGen record for Anti-neuronal intermediate filament antibody positivity">Anti-neuronal intermediate filament antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814270" ref="tree=MeSH" title="MedGen record for Anti-neutrophil elastase antibody positivity">Anti-neutrophil elastase antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1707164" ref="tree=MeSH" title="MedGen record for Anti-NMDA receptor antibody positivity">Anti-NMDA receptor antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863511" ref="tree=MeSH" title="MedGen record for Anti-NR2A antibody positivity">Anti-NR2A antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814307" ref="tree=MeSH" title="MedGen record for Anti-nuclear matrix protein-2 antibody positivity">Anti-nuclear matrix protein-2 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814249" ref="tree=MeSH" title="MedGen record for Anti-nucleolus-organizing region antibody positivity">Anti-nucleolus-organizing region antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1864078" ref="tree=MeSH" title="MedGen record for Anti-osteoprotegerin antibody positivity">Anti-osteoprotegerin antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814151" ref="tree=MeSH" title="MedGen record for Anti-P/Q-type VGCC antibody positivity">Anti-P/Q-type VGCC antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814273" ref="tree=MeSH" title="MedGen record for Anti-p53 antibody positivity">Anti-p53 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814237" ref="tree=MeSH" title="MedGen record for Anti-parotid secretory protein antibody positivity">Anti-parotid secretory protein antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863504" ref="tree=MeSH" title="MedGen record for Anti-perilipin-1 antibody positivity">Anti-perilipin-1 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1786156" ref="tree=MeSH" title="MedGen record for Anti-periplakin antibody positivity">Anti-periplakin antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814262" ref="tree=MeSH" title="MedGen record for Anti-phosphatidic acid antibody positivity">Anti-phosphatidic acid antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814263" ref="tree=MeSH" title="MedGen record for Anti-phosphatidyl choline antibody positivity">Anti-phosphatidyl choline antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814250" ref="tree=MeSH" title="MedGen record for Anti-phosphatidyl ethanolamine antibody positivity">Anti-phosphatidyl ethanolamine antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814264" ref="tree=MeSH" title="MedGen record for Anti-phosphatidyl glycerol antibody positivity">Anti-phosphatidyl glycerol antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814265" ref="tree=MeSH" title="MedGen record for Anti-phosphatidyl inositol antibody positivity">Anti-phosphatidyl inositol antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814266" ref="tree=MeSH" title="MedGen record for Anti-phosphatidyl serine antibody positivity">Anti-phosphatidyl serine antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814111" ref="tree=MeSH" title="MedGen record for Anti-phospholipase A2 receptor antibody positivity">Anti-phospholipase A2 receptor antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1383513" ref="tree=MeSH" title="MedGen record for Anti-pituitary antibody positivity">Anti-pituitary antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814153" ref="tree=MeSH" title="MedGen record for Anti-PKCgamma antibody">Anti-PKCgamma antibody</a></span></li><li><span class="TLline"><a href="/medgen/1814236" ref="tree=MeSH" title="MedGen record for Anti-plasminogen binding peptide antibody positivity">Anti-plasminogen binding peptide antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1841771" ref="tree=MeSH" title="MedGen record for Anti-platelet antigen antibody positivity">Anti-platelet antigen antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814257" ref="tree=MeSH" title="MedGen record for Anti-platelet derived growth factor receptor">Anti-platelet derived growth factor receptor</a></span></li><li><span class="TLline"><a href="/medgen/1864043" ref="tree=MeSH" title="MedGen record for Anti-potassium channel tetramerization domain containing 16 antibody positivity">Anti-potassium channel tetramerization domain containing 16 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863876" ref="tree=MeSH" title="MedGen record for Anti-recoverin antibody positivity">Anti-recoverin antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1864365" ref="tree=MeSH" title="MedGen record for Anti-regulator of G protein signaling 8 antibody positivity">Anti-regulator of G protein signaling 8 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1785706" ref="tree=MeSH" title="MedGen record for Anti-reticulin antibody positivity">Anti-reticulin antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1800814" ref="tree=MeSH" title="MedGen record for Anti-Ri antibody">Anti-Ri antibody</a></span></li><li><span class="TLline"><a href="/medgen/1814243" ref="tree=MeSH" title="MedGen record for Anti-ribosome Po antibody positivity">Anti-ribosome Po antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1723290" ref="tree=MeSH" title="MedGen record for Anti-RNA-polymerase-III-autoantibody positivity">Anti-RNA-polymerase-III-autoantibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814259" ref="tree=MeSH" title="MedGen record for Anti-Ro52/TRIM21 antibody positivity">Anti-Ro52/TRIM21 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814256" ref="tree=MeSH" title="MedGen record for Anti-RuvBL1/2 antibody positivity">Anti-RuvBL1/2 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1813976" ref="tree=MeSH" title="MedGen record for Anti-ryanodine receptor antibody">Anti-ryanodine receptor antibody</a></span></li><li><span class="TLline"><a href="/medgen/1814233" ref="tree=MeSH" title="MedGen record for Anti-salivary protein antibody positivity">Anti-salivary protein antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814154" ref="tree=MeSH" title="MedGen record for Anti-Septin-5 antibody">Anti-Septin-5 antibody</a></span></li><li><span class="TLline"><a href="/medgen/1814155" ref="tree=MeSH" title="MedGen record for Anti-SEZ6L2 antibody">Anti-SEZ6L2 antibody</a></span></li><li><span class="TLline"><a href="/medgen/1814228" ref="tree=MeSH" title="MedGen record for Anti-side-chain cleavage enzyme antibody positivity">Anti-side-chain cleavage enzyme antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1778945" ref="tree=MeSH" title="MedGen record for Anti-signal recognition particle antibody positivity">Anti-signal recognition particle antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814159" ref="tree=MeSH" title="MedGen record for Anti-Sj/ITPR1 antibody">Anti-Sj/ITPR1 antibody</a></span></li><li><span class="TLline"><a href="/medgen/116117" ref="tree=MeSH" title="MedGen record for Anti-smooth muscle antibody positivity">Anti-smooth muscle antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863559" ref="tree=MeSH" title="MedGen record for Anti-soluble liver antigen/liver pancreas antibody positivity">Anti-soluble liver antigen/liver pancreas antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814156" ref="tree=MeSH" title="MedGen record for Anti-SOX1 antibody">Anti-SOX1 antibody</a></span></li><li><span class="TLline"><a href="/medgen/1814268" ref="tree=MeSH" title="MedGen record for Anti-sphingolipid antibody positivity">Anti-sphingolipid antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814232" ref="tree=MeSH" title="MedGen record for Anti-steroid 17alpha-hydroxylase antibody positivity">Anti-steroid 17alpha-hydroxylase antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814272" ref="tree=MeSH" title="MedGen record for Anti-Su antigen/argonaute 2 antibody positivity">Anti-Su antigen/argonaute 2 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814304" ref="tree=MeSH" title="MedGen record for Anti-SUMO-activating enzyme antibody positivity">Anti-SUMO-activating enzyme antibody positivity</a></span><ul><li><span class="TLline"><a href="/medgen/1814305" ref="tree=MeSH" title="MedGen record for Anti-SUMO-activating enzyme subunit 1 antibody positivity">Anti-SUMO-activating enzyme subunit 1 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814306" ref="tree=MeSH" title="MedGen record for Anti-SUMO-activating enzyme subunit 2 antibody positivity">Anti-SUMO-activating enzyme subunit 2 antibody positivity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814247" ref="tree=MeSH" title="MedGen record for Anti-Th/To antibody positivity">Anti-Th/To antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1864410" ref="tree=MeSH" title="MedGen record for Anti-thrombospondin type I domain-containing 7A antibody positivity">Anti-thrombospondin type I domain-containing 7A antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863561" ref="tree=MeSH" title="MedGen record for Anti-thyroid antibody positivity">Anti-thyroid antibody positivity</a></span><ul><li><span class="TLline"><a href="/medgen/1670955" ref="tree=MeSH" title="MedGen record for Anti-thyroglobulin antibody positivity">Anti-thyroglobulin antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1392952" ref="tree=MeSH" title="MedGen record for Anti-thyroid peroxidase antibody positivity">Anti-thyroid peroxidase antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814349" ref="tree=MeSH" title="MedGen record for Anti-thyroid-stimulating hormone receptor antibody positivity">Anti-thyroid-stimulating hormone receptor antibody positivity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1787623" ref="tree=MeSH" title="MedGen record for Anti-tissue transglutaminase antibody positivity">Anti-tissue transglutaminase antibody positivity</a></span><ul><li><span class="TLline"><a href="/medgen/1784889" ref="tree=MeSH" title="MedGen record for Anti-endomysial antibody positivity">Anti-endomysial antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1786411" ref="tree=MeSH" title="MedGen record for Anti-epidermal transglutaminase antibody positivity">Anti-epidermal transglutaminase antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1784435" ref="tree=MeSH" title="MedGen record for Anti-transglutaminase 6 antibody">Anti-transglutaminase 6 antibody</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814430" ref="tree=MeSH" title="MedGen record for Anti-titin antibody positivity">Anti-titin antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1813983" ref="tree=MeSH" title="MedGen record for Anti-Tr/DNER antibody">Anti-Tr/DNER antibody</a></span></li><li><span class="TLline"><a href="/medgen/1814271" ref="tree=MeSH" title="MedGen record for Anti-transcription intermediary factor-1gamma antibody positivity">Anti-transcription intermediary factor-1gamma antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814157" ref="tree=MeSH" title="MedGen record for Anti-TRIM46 antibody">Anti-TRIM46 antibody</a></span></li><li><span class="TLline"><a href="/medgen/1814158" ref="tree=MeSH" title="MedGen record for Anti-TRIM9/TRIM67 antibody">Anti-TRIM9/TRIM67 antibody</a></span></li><li><span class="TLline"><a href="/medgen/1778335" ref="tree=MeSH" title="MedGen record for Anti-type VII collagen antibody">Anti-type VII collagen antibody</a></span></li><li><span class="TLline"><a href="/medgen/1814253" ref="tree=MeSH" title="MedGen record for Anti-U11/U12 RNP antibody positivity">Anti-U11/U12 RNP antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814246" ref="tree=MeSH" title="MedGen record for Anti-U3 RNP antibody positivity">Anti-U3 RNP antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863598" ref="tree=MeSH" title="MedGen record for Anti-vinculin antibody positivity">Anti-vinculin antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1841965" ref="tree=MeSH" title="MedGen record for Anti-voltage-gated potassium channel antibody positivity">Anti-voltage-gated potassium channel antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1863817" ref="tree=MeSH" title="MedGen record for Anti-von Willebrand factor antibody positivity">Anti-von Willebrand factor antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814274" ref="tree=MeSH" title="MedGen record for Anti-Y-box protein-1 antibody positivity">Anti-Y-box protein-1 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814170" ref="tree=MeSH" title="MedGen record for Anti-Yo antibody positivity">Anti-Yo antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814431" ref="tree=MeSH" title="MedGen record for Anti-Zic4 antibody positivity">Anti-Zic4 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814234" ref="tree=MeSH" title="MedGen record for Anti-Zinc transporter 8 antibody positivity">Anti-Zinc transporter 8 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1788151" ref="tree=MeSH" title="MedGen record for Antigliadin antibody positivity">Antigliadin antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1787043" ref="tree=MeSH" title="MedGen record for Antilactoferrin antibody positivity">Antilactoferrin antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/866704" ref="tree=MeSH" title="MedGen record for Antimitochondrial antibody positivity">Antimitochondrial antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/395147" ref="tree=MeSH" title="MedGen record for Antineutrophil antibody positivity">Antineutrophil antibody positivity</a></span><ul><li><span class="TLline"><a href="/medgen/1690999" ref="tree=MeSH" title="MedGen record for Cytoplasmic antineutrophil antibody positivity">Cytoplasmic antineutrophil antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1696202" ref="tree=MeSH" title="MedGen record for Perinuclear antineutrophil antibody positivity">Perinuclear antineutrophil antibody positivity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/101792" ref="tree=MeSH" title="MedGen record for Antinuclear antibody positivity">Antinuclear antibody positivity</a></span><ul><li><span class="TLline"><a href="/medgen/904197" ref="tree=MeSH" title="MedGen record for Anti-centromere antibody positivity">Anti-centromere antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1782602" ref="tree=MeSH" title="MedGen record for Anti-dsDNA antibody positivity">Anti-dsDNA antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1787254" ref="tree=MeSH" title="MedGen record for Anti-histone antibody positivity">Anti-histone antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1788267" ref="tree=MeSH" title="MedGen record for Anti-Mi2 antibody positivity">Anti-Mi2 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1370942" ref="tree=MeSH" title="MedGen record for Anti-multiple nuclear dots antibody positivity">Anti-multiple nuclear dots antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1778982" ref="tree=MeSH" title="MedGen record for Anti-nucleoporin 62 antibody positivity">Anti-nucleoporin 62 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1783571" ref="tree=MeSH" title="MedGen record for Anti-PM-Scl antibody positivity">Anti-PM-Scl antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1785652" ref="tree=MeSH" title="MedGen record for Extractable nuclear antigen positivity">Extractable nuclear antigen positivity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1863988" ref="tree=MeSH" title="MedGen record for Antiparietal cell antibody positivity">Antiparietal cell antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/866404" ref="tree=MeSH" title="MedGen record for Antiphospholipid antibody positivity">Antiphospholipid antibody positivity</a></span><ul><li><span class="TLline"><a href="/medgen/1696853" ref="tree=MeSH" title="MedGen record for Anticardiolipin IgG antibody positivity">Anticardiolipin IgG antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1705352" ref="tree=MeSH" title="MedGen record for Anticardiolipin IgM antibody positivity">Anticardiolipin IgM antibody positivity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1864167" ref="tree=MeSH" title="MedGen record for Antisperm antibody positivity">Antisperm antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/927597" ref="tree=MeSH" title="MedGen record for C3 nephritic factor positivity">C3 nephritic factor positivity</a></span></li><li><span class="TLline"><a href="/medgen/1814398" ref="tree=MeSH" title="MedGen record for C4 nephritic factor positivity">C4 nephritic factor positivity</a></span></li><li><span class="TLline"><a href="/medgen/868185" ref="tree=MeSH" title="MedGen record for Calcium channel antibody positivity">Calcium channel antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1785445" ref="tree=MeSH" title="MedGen record for IgG4 autoimmune antibody positivity">IgG4 autoimmune antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1379583" ref="tree=MeSH" title="MedGen record for Insulin receptor antibody positivity">Insulin receptor antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/927586" ref="tree=MeSH" title="MedGen record for Liver kidney microsome type 1 antibody positivity">Liver kidney microsome type 1 antibody positivity</a></span></li><li><span class="TLline"><a href="/medgen/1370558" ref="tree=MeSH" title="MedGen record for Lupus anticoagulant">Lupus anticoagulant</a></span></li><li><span class="TLline"><a href="/medgen/1863712" ref="tree=MeSH" title="MedGen record for Myositis-specific autoantibody positivity">Myositis-specific autoantibody positivity</a></span><ul><li><span class="TLline"><a href="/medgen/1814317" ref="tree=MeSH" title="MedGen record for Anti-histidyl tRNA synthetase antibody positivity">Anti-histidyl tRNA synthetase antibody positivity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/349070" ref="tree=MeSH" title="MedGen record for Platelet antibody positive">Platelet antibody positive</a></span></li><li><span class="TLline"><a href="/medgen/56226" ref="tree=MeSH" title="MedGen record for Rheumatoid factor positive">Rheumatoid factor positive</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1918" ref="tree=MeSH" title="MedGen record for Autoimmune hemolytic anemia">Autoimmune hemolytic anemia</a></span><ul><li><span class="TLline"><a href="/medgen/450541" ref="tree=MeSH" title="MedGen record for Autoimmune hemolytic anemia, warm type">Autoimmune hemolytic anemia, warm type</a></span></li><li><span class="TLline"><a href="/medgen/580980" ref="tree=MeSH" title="MedGen record for Drug-induced autoimmune hemolytic anemia">Drug-induced autoimmune hemolytic anemia</a></span></li><li><span class="TLline"><a href="/medgen/75773" ref="tree=MeSH" title="MedGen record for Evans syndrome">Evans syndrome</a></span></li><li><span class="TLline"><a href="/medgen/930926" ref="tree=MeSH" title="MedGen record for Mixed-type autoimmune hemolytic anemia">Mixed-type autoimmune hemolytic anemia</a></span></li><li><span class="TLline"><a href="/medgen/863232" ref="tree=MeSH" title="MedGen record for STAT3-related early-onset multisystem autoimmune disease">STAT3-related early-onset multisystem autoimmune disease</a></span></li><li><span class="TLline"><a href="/medgen/1685970" ref="tree=MeSH" title="MedGen record for Warm Antibody Autoimmune Hemolytic Anemia">Warm Antibody Autoimmune Hemolytic Anemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/116621" ref="tree=MeSH" title="MedGen record for Autoimmune thrombocytopenia">Autoimmune thrombocytopenia</a></span><ul><li><span class="TLline"><a href="/medgen/584986" ref="tree=MeSH" title="MedGen record for Autoimmune thrombocytopenic purpura">Autoimmune thrombocytopenic purpura</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1696901" ref="tree=MeSH" title="MedGen record for CSF autoimmune antibody positivity">CSF autoimmune antibody positivity</a></span><ul><li><span class="TLline"><a href="/medgen/1699031" ref="tree=MeSH" title="MedGen record for CSF anti-NMDA receptor antibody positivity">CSF anti-NMDA receptor antibody positivity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/137947" ref="tree=MeSH" title="MedGen record for Neutropenia in presence of anti-neutropil antibodies">Neutropenia in presence of anti-neutropil antibodies</a></span></li><li><span class="TLline"><a href="/medgen/6146" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus">Systemic lupus erythematosus</a></span><ul><li><span class="TLline"><a href="/medgen/592738" ref="tree=MeSH" title="MedGen record for Bullous systemic lupus erythematosus">Bullous systemic lupus erythematosus</a></span></li><li><span class="TLline"><a href="/medgen/156265" ref="tree=MeSH" title="MedGen record for Central nervous system lupus">Central nervous system lupus</a></span></li><li><span class="TLline"><a href="/medgen/482373" ref="tree=MeSH" title="MedGen record for Childhood-Onset Systemic Lupus Erythematosus">Childhood-Onset Systemic Lupus Erythematosus</a></span></li><li><span class="TLline"><a href="/medgen/149262" ref="tree=MeSH" title="MedGen record for Lupus Encephalitis">Lupus Encephalitis</a></span></li><li><span class="TLline"><a href="/medgen/6147" ref="tree=MeSH" title="MedGen record for Lupus nephritis">Lupus nephritis</a></span><ul><li><span class="TLline"><a href="/medgen/885820" ref="tree=MeSH" title="MedGen record for Advanced sclerotic lupus nephritis">Advanced sclerotic lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/883248" ref="tree=MeSH" title="MedGen record for Diffuse lupus nephritis">Diffuse lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/891112" ref="tree=MeSH" title="MedGen record for Focal lupus nephritis">Focal lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/884707" ref="tree=MeSH" title="MedGen record for Membranous lupus nephritis">Membranous lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/882510" ref="tree=MeSH" title="MedGen record for Mesangial proliferative lupus nephritis">Mesangial proliferative lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/888809" ref="tree=MeSH" title="MedGen record for Minimal mesangial lupus nephritis">Minimal mesangial lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/890480" ref="tree=MeSH" title="MedGen record for Systemic Lupus Erythematosus Nephritis Class IV G">Systemic Lupus Erythematosus Nephritis Class IV G</a></span></li><li><span class="TLline"><a href="/medgen/882190" ref="tree=MeSH" title="MedGen record for Systemic Lupus Erythematosus Nephritis Class IV S">Systemic Lupus Erythematosus Nephritis Class IV S</a></span></li><li><span class="TLline"><a href="/medgen/887958" ref="tree=MeSH" title="MedGen record for Systemic Lupus Erythematosus Nephritis Class V">Systemic Lupus Erythematosus Nephritis Class V</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/101066" ref="tree=MeSH" title="MedGen record for Rash of systemic lupus erythematosus">Rash of systemic lupus erythematosus</a></span></li><li><span class="TLline"><a href="/medgen/355700" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 1">Systemic lupus erythematosus, susceptibility to, 1</a></span></li><li><span class="TLline"><a href="/medgen/343159" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 2">Systemic lupus erythematosus, susceptibility to, 2</a></span></li><li><span class="TLline"><a href="/medgen/381377" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 3">Systemic lupus erythematosus, susceptibility to, 3</a></span></li><li><span class="TLline"><a href="/medgen/374849" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 4">Systemic lupus erythematosus, susceptibility to, 4</a></span></li><li><span class="TLline"><a href="/medgen/322783" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 5">Systemic lupus erythematosus, susceptibility to, 5</a></span></li><li><span class="TLline"><a href="/medgen/332086" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 6">Systemic lupus erythematosus, susceptibility to, 6</a></span></li><li><span class="TLline"><a href="/medgen/355279" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 7">Systemic lupus erythematosus, susceptibility to, 7</a></span></li><li><span class="TLline"><a href="/medgen/355278" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 8">Systemic lupus erythematosus, susceptibility to, 8</a></span></li><li><span class="TLline"><a href="/medgen/369736" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 9">Systemic lupus erythematosus, susceptibility to, 9</a></span></li><li><span class="TLline"><a href="/medgen/436859" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 10">Systemic lupus erythematosus, susceptibility to, 10</a></span></li><li><span class="TLline"><a href="/medgen/393656" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 11">Systemic lupus erythematosus, susceptibility to, 11</a></span></li><li><span class="TLline"><a href="/medgen/436858" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 12">Systemic lupus erythematosus, susceptibility to, 12</a></span></li><li><span class="TLline"><a href="/medgen/382864" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 13">Systemic lupus erythematosus, susceptibility to, 13</a></span></li><li><span class="TLline"><a href="/medgen/413921" ref="tree=MeSH" title="MedGen record for Systemic lupus erythematosus, susceptibility to, 14">Systemic lupus erythematosus, susceptibility to, 14</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_2135"><div><strong>Autoimmune disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2135</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.">C0004364</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to his own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/2135">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_41522"><div><strong>Diabetes mellitus type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41522</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.">C0011854</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classic phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/41522">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_7764"><div><strong>Myasthenia gravis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7764</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.">C0026896</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myasthenia gravis (MG) is an autoimmune disease in which antibodies bind to acetylcholine receptors or to functionally related molecules in the postsynaptic membrane at the neuromuscular junction. The antibodies induce weakness of skeletal muscles, which is the sole disease manifestation. The weakness can be generalized or localized, is more proximal than distal, and nearly always includes eye muscles, with diplopia and ptosis. The pattern of involvement is usually symmetric, apart from the eye involvement, which is often markedly asymmetric and involves several eye muscles. The weakness typically increases with exercise and repetitive muscle use (fatigue) and varies over the course of a day and from day to day, often with nearly normal muscle strength in the morning (summary by Gilhus, 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7764">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_39017"><div><strong>Stiff-man syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39017</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.">C0085292</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The stiff-person syndrome (SPS) is most often an adult-onset sporadic acquired disorder characterized by progressive muscle stiffness with superimposed painful muscle spasms accompanied by electromyographic evidence of continuous motor activity at rest. SPS has been associated with autoimmune disorders, diabetes mellitus, thyrotoxicosis, and hypopituitarism with adrenal insufficiency (George et al., 1984). Approximately 60% of patients with SPS have antibodies to glutamic acid decarboxylase (GAD2, or GAD65; 138275), the rate-limiting enzyme in the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA), suggesting an immune-mediated pathogenesis (Folli et al., 1993). Approximately 10% of patients develop SPS as a paraneoplastic neurologic disorder associated with antibodies to amphiphysin (AMPH; 600418), an intracellular protein associated with neuronal synaptic vesicle endocytosis (Burns, 2005). See also congenital stiff-man syndrome, or hereditary hyperexplexia (149400), which is caused by mutations in subunits of the glycine receptor gene (GLRA1, 138491; GLRB, 138492). Meinck and Thompson (2002) provided a detailed review of stiff-person syndrome. They also discussed 2 possibly related conditions, progressive encephalomyelitis with rigidity (PERM), a more severe disorder with other neurologic features, and stiff-limb or stiff-leg syndrome, a focal disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39017">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82896"><div><strong>Polyagglutinable erythrocyte syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82896</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.">C0272137</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000). Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1; 610555), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82896">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_99306"><div><strong>Subcutaneous panniculitis-like T-cell lymphoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99306</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.">C0522624</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is an uncommon form of T-cell non-Hodgkin lymphoma in which cytotoxic CD8 (see 186910)+ T cells infiltrate adipose tissue forming subcutaneous nodules. Both children and adults can be affected, with a median age at diagnosis of 36 years and a female gender bias. Most patients have accompanying systemic features such as fever or flank pain. A subset (about 20%) of patients develop hemophagocytic lymphohistiocytosis (HLH), usually associated with CD8+ T cells rimming adipocytes in the bone marrow. An infectious agent is not identified, and the disorder is believed to result from improperly activated inflammation. Immunosuppressive therapy may be helpful; hematopoietic bone marrow transplantation is usually curative (summary by Gayden et al., 2018). For a general discussion of genetic heterogeneity of HLH, see HLH1 (267700).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99306">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_282890"><div><strong>Sjogren syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>282890</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.">C1527336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sjogren syndrome is an autoimmune disease that mainly affects the exocrine glands. It is clinically characterized by keratoconjunctivitis sicca and xerostomia (Goransson et al., 2006). See 200400 for association of Sjogren syndrome with achalasia in sisters.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/282890">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_372182"><div><strong>Immunoglobulin A deficiency 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>372182</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.">C1836032</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/372182">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375009"><div><strong>Spondyloenchondrodysplasia with immune dysregulation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375009</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.">C1842763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375009">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343610"><div><strong>Eosinophilopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343610</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.">C1851586</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally low level of eosinophils in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343610">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400208"><div><strong>Alopecia areata 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400208</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.">C1863094</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Alopecia areata is a genetically determined, immune-mediated disorder of the hair follicle with an estimated lifetime risk of approximately 2%, making it one of the most common human autoimmune diseases. It shows a spectrum of severity that ranges from patchy localized hair loss on the scalp to the complete absence of hair everywhere on the body (Gilhar and Kalish, 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400208">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_358227"><div><strong>Pemphigus vulgaris, familial</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358227</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.">C1868502</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pemphigus vulgaris (PV) is a rare, blistering autoimmune disease that affects the skin and mucous membranes. Patients have circulating antibody to an intercellular cement substance, and deposition in vivo of this antibody is a hallmark of the disease. The antibody appears to be pathogenetic, since newborn infants of mothers with pemphigus may have blisters, and newborn mice injected with the antibody from patients have clinical pemphigus. The disease is reported to have a particularly high incidence among Jews (summary by Ahmed et al., 1990).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358227">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_382434"><div><strong>Autoimmune lymphoproliferative syndrome type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382434</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.">C2674723</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">RAS-associated leukoproliferative disorder (RALD) is characterized by lymphadenopathy, splenomegaly, and variable autoimmune phenomena, including autoimmune hemolytic anemia, idiopathic thrombocytopenic purpura, and neutropenia. Laboratory studies show an expansion of lymphocytes due to defective apoptosis, as well as significant autoantibodies. Some patients have recurrent infections, and there may be an increased risk of hematologic malignancy (summary by Oliveira, 2013 and Niemela et al., 2010). The disorder shows significant overlap with autoimmune lymphoproliferative syndrome (ALPS; 601859) and was originally designated ALPS IV.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382434">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_403466"><div><strong>Hereditary angioedema type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>403466</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.">C2717906</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/403466">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419725"><div><strong>IgAD1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419725</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.">C2931161</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunoglobulin (Ig) A deficiency (IGAD) is characterized by decreased or absent levels of serum IgA in the presence of normal serum levels of IgG and IgM in a patient older than 4 years of age in whom other causes of hypogammaglobulinemia have been excluded. IgA in the dimeric form is the dominant immunoglobulin in luminal secretions, such as saliva, tears, bronchial secretions, nasal mucosal secretions, and mucous secretions of the small intestine. Individuals with selective IgA deficiency may be asymptomatic or have recurrent sinopulmonary and gastrointestinal infections, allergic disorders, and autoimmune disorders. The diagnosis of IgA deficiency depends on the measurement of monomeric IgA concentrations in serum; thus individuals with IgA deficiency may have IgA in mucosal systems, which may offer some protection (review by Yel, 2010). Genetic Heterogeneity of IgA Deficiency The IGAD1 locus maps to chromosome 6p21. See also IGAD2 (609529), which is caused by mutation in the TNFRSF13B gene (604907) on chromosome 17p11.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419725">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_461624"><div><strong>Complement component C1r/C1s deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461624</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.">C3150274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/461624">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_461704"><div><strong>Immunodeficiency, common variable, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461704</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.">C3150354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/461704">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_461999"><div><strong>Syndromic multisystem autoimmune disease due to ITCH deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461999</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.">C3150649</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/461999">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462252"><div><strong>C1Q deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462252</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.">C3150902</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">C1q deficiency (C1QD) is a rare autosomal recessive disorder characterized by recurrent skin lesions, chronic infections, and an increased risk of autoimmune diseases, particularly systemic lupus erythematosus (SLE; see 152700) or SLE-like diseases. It has also been associated with chronic glomerulonephritis and renal failure. C1q deficiency presents in 2 different forms, absent C1q protein or presence of a dysfunctional molecule (summary by Topaloglu et al., 1996 and Vassallo et al., 2007). Genetic Heterogeneity of C1q Deficiency See also C1q deficiency-2 (C1QD2; 620321), caused by mutation in the C1QB gene (120570), and C1q deficiency-3 (C1QD3; 620322), caused by mutation in the C1QC gene (120575).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462252">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_765548"><div><strong>Lymphoproliferative syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>765548</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.">C3552634</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012). For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/765548">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815662"><div><strong>TCR-alpha-beta-positive T-cell deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815662</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.">C3809332</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-7 (IMD7) is an autosomal recessive immunologic disorder characterized by onset of recurrent bacterial and viral infections in infancy or early childhood. Affected individuals may also have features of immune dysregulation, including lymphadenopathy and presence of autoantibodies. Laboratory studies show increased serum IgE, low numbers of T cells, low TCR-alpha/beta cells, and increased TCR-gamma/delta cells. The disorder often results in death in childhood, although bone marrow transplant is effective (summary by Morgan et al., 2011 and Rawat et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815662">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816258"><div><strong>Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816258</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.">C3809928</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013). For a general description and a discussion of genetic heterogeneity of ALPS, see 601859.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816258">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1381503"><div><strong>Diabetes mellitus, ketosis-prone</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1381503</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.">C3837958</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In addition to classic type 1 (see 222100) and type 2 (see 125853) diabetes mellitus, atypical presentations are seen, particularly in populations of African ancestry. Ketosis-prone diabetes, the most common atypical form, is characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding, and association with type 1 susceptibility HLA alleles is variable (Sobngwi et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1381503">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862670"><div><strong>Severe combined immunodeficiency due to LCK deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862670</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.">C4014233</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-22 (IMD22) is an autosomal recessive disorder characterized by the onset of recurrent bacterial, viral, and fungal respiratory, gastrointestinal, and skin infections in infancy or early childhood. Immunologic workup shows severe T-cell lymphopenia, particularly affecting the CD4+ subset, and impaired proximal TCR intracellular signaling and activation. Although NK cells and B cells are normal, some patients may have hypogammaglobulinemia secondary to the T-cell defect. There are variable manifestations, likely due to the severity of the particular LCK mutation: patients may develop prominent skin lesions resembling epidermodysplasia verruciformis, gastrointestinal inflammation, and virus-induced malignancy. The disease can be fatal in childhood, but hematopoietic stem cell transplant (HSCT) may be curative (Hauck et al., 2012; Li et al., 2016; Keller et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862670">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863232"><div><strong>STAT3-related early-onset multisystem autoimmune disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863232</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.">C4014795</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune Disease See also ADMIO2 (617006), caused by mutation in the ZAP70 gene (176947) on chromosome 2q12, and ADMIO3 (620430), caused by mutation in the CBLB gene (604491) on chromosome 3q13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863232">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863371"><div><strong>Immunodeficiency 36</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863371</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.">C4014934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Activated PI3K delta syndrome (APDS) is characterized by a spectrum of clinical manifestations involving the immune system leading to increased susceptibility to infections (e.g., otitis media, sinusitis, bronchitis, and pneumonia), autoimmune/autoinflammatory manifestations including autoimmune cytopenias, gastrointestinal manifestations resembling Crohn-like colitis, intussusception, and lymphoproliferation (e.g., lymphadenopathy, hepatosplenomegaly, and nodular lymphoid hyperplasia), and an increased risk of developing B-cell lymphomas and other malignancies. Short stature, growth delays, and neurodevelopmental delays are also reported. APDS type 1 (APDS1) is caused by a heterozygous pathogenic gain-of-function variant in PIK3CD, and APDS type 2 (APDS2) is caused by a heterozygous loss-of-function pathogenic variant in PIK3R1. The key clinical differences between APDS1 and APDS2 include short stature, frequency of gastrointestinal infections, and characteristic dental findings, which are more prominent in APDS2.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863371">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934735"><div><strong>Autoimmune disease, multisystem, infantile-onset, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934735</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.">C4310768</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934735">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1615364"><div><strong>Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1615364</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.">C4540434</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1615364">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1642148"><div><strong>Ehlers-Danlos syndrome, periodontal type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642148</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.">C4551499</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Periodontal Ehlers-Danlos syndrome (pEDS) is characterized by distinct oral manifestations. Periodontal tissue breakdown beginning in the teens results in premature loss of teeth. Lack of attached gingiva and thin and fragile gums lead to gingival recession. Connective tissue abnormalities of pEDS typically include easy bruising, pretibial plaques, distal joint hypermobility, hoarse voice, and less commonly manifestations such as organ or vessel rupture. Since the first descriptions of pEDS in the 1970s, 148 individuals have been reported in the literature; however, future in-depth descriptions of non-oral manifestations in newly diagnosed individuals with a molecularly confirmed diagnosis of pEDS will be important to further define the clinical features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1642148">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648410"><div><strong>Combined immunodeficiency due to DOCK8 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648410</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.">C4722305</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Hyper-IgE syndrome-2 with recurrent infections (HIES2) is an autosomal recessive immunologic disorder characterized by recurrent staphylococcal infections of the skin and respiratory tract, eczema, elevated serum immunoglobulin E, and hypereosinophilia. It is distinguished from autosomal dominant HIES1 (147060) by the lack of connective tissue and skeletal involvement (Renner et al., 2004). For a discussion of genetic heterogeneity of hyper-IgE syndrome, see 147060. See also TYK2 deficiency (611521), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES2 and mendelian susceptibility to mycobacterial disease (MSMD; 209950) (Minegishi et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648410">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1682943"><div><strong>Immunodeficiency 63 with lymphoproliferation and autoimmunity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1682943</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.">C5193126</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-63 with lymphoproliferation and autoimmunity (IMD63) is an autosomal recessive disorder characterized by immune dysregulation. Affected individuals present in infancy with features of both abnormal activation of certain immune signaling pathways, resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia, as well as features of immunodeficiency, such as recurrent infections and increased susceptibility to viral infections, especially CMV. Laboratory studies show increased NK cells that show impaired differentiation, as well as abnormal T cell populations or responses. Some patients may die in childhood; hematopoietic bone marrow transplantation is curative (summary by Zhang et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1682943">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794251"><div><strong>Loeys-Dietz syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794251</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.">C5562041</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794251">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1806192"><div><strong>Gastrointestinal defects and immunodeficiency syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1806192</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.">C5680044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) is characterized by multiple intestinal atresia, in which atresia occurs at various levels throughout the small and large intestines. Surgical outcomes are poor, and the condition is usually fatal within the first month of life. Some patients exhibit inflammatory bowel disease (IBD), with or without intestinal atresia, and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency (Samuels et al., 2013; Avitzur et al., 2014; Lemoine et al., 2014). Genetic Heterogeneity of GIDID See also GIDID2 (619708), caused by mutation in the PI4KA gene (600286) on chromosome 22q11.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1806192">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1855512"><div><strong>Autoinflammation with arthritis and vasculitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1855512</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.">C5935634</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autoinflammation with arthritis and vasculitis (AIARV) is an autosomal recessive complex immunologic disorder with onset of symptoms in infancy or early childhood. Affected individuals have recurrent fever, erythematous skin rashes, vasculitis, oral aphthous lesions, and polyarthritis. Laboratory studies are consistent with an inflammatory state. Although patients may have recurrent infections, the infections are not severe. Additional features may include poor overall growth, microcytic anemia, mildly impaired intellectual development, seizures, and variable brain imaging abnormalities. Treatment with TNF (191160) inhibitors may result in clinical improvement (Taft et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1855512">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400208" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alopecia areata 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_2135" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune disease</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune disease, multisystem, infantile-onset, 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382434" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune lymphoproliferative syndrome type 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816258" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (34)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1855512" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoinflammation with arthritis and vasculitis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462252" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">C1Q deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1615364" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648410" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined immunodeficiency due to DOCK8 deficiency</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Complement component C1r/C1s deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_41522" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diabetes mellitus type 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1381503" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diabetes mellitus, ketosis-prone</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1642148" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, periodontal type 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343610" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eosinophilopenia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1806192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrointestinal defects and immunodeficiency syndrome 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_403466" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary angioedema type 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419725" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">IgAD1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863371" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 36</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1682943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 63 with lymphoproliferation and autoimmunity</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency, common variable, 2</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_372182" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunoglobulin A deficiency 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794251" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loeys-Dietz syndrome 6</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_765548" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphoproliferative syndrome 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7764" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myasthenia gravis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358227" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pemphigus vulgaris, familial</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82896" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyagglutinable erythrocyte syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe combined immunodeficiency due to LCK deficiency</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_282890" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sjogren syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloenchondrodysplasia with immune dysregulation</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">STAT3-related early-onset multisystem autoimmune disease</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_39017" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stiff-man syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_99306" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subcutaneous panniculitis-like T-cell lymphoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461999" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndromic multisystem autoimmune disease due to ITCH deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815662" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">TCR-alpha-beta-positive T-cell deficiency</a></div></span></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/34454714">AGA Clinical Practice Update on the Diagnosis and Management of Atrophic Gastritis: Expert Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah SC,
|
||
Piazuelo MB,
|
||
Kuipers EJ,
|
||
Li D</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2021 Oct;161(4):1325-1332.e7.
|
||
Epub 2021 Aug 26
|
||
doi: 10.1053/j.gastro.2021.06.078.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34454714" target="_blank">34454714</a><a href="/pmc/articles/PMC8740554" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32260219">Update on the Pathomechanism, Diagnosis, and Treatment Options for Rheumatoid Arthritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin YJ,
|
||
Anzaghe M,
|
||
Schülke S</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2020 Apr 3;9(4)
|
||
doi: 10.3390/cells9040880.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32260219" target="_blank">32260219</a><a href="/pmc/articles/PMC7226834" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32017656">Vitiligo: Mechanisms of Pathogenesis and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frisoli ML,
|
||
Essien K,
|
||
Harris JE</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Immunol</span>
|
||
2020 Apr 26;38:621-648.
|
||
Epub 2020 Feb 4
|
||
doi: 10.1146/annurev-immunol-100919-023531.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32017656" target="_blank">32017656</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22autoimmunity%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 (1023)</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/37686873">Infections and Autoimmunity-The Immune System and Vitamin D: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wimalawansa SJ</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2023 Sep 2;15(17)
|
||
doi: 10.3390/nu15173842.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37686873" target="_blank">37686873</a><a href="/pmc/articles/PMC10490553" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37165096">Pathogenesis of autoimmune disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pisetsky DS</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2023 Aug;19(8):509-524.
|
||
Epub 2023 May 10
|
||
doi: 10.1038/s41581-023-00720-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37165096" target="_blank">37165096</a><a href="/pmc/articles/PMC10171171" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36446151">The increasing prevalence of autoimmunity and autoimmune diseases: an urgent call to action for improved understanding, diagnosis, treatment, and prevention.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller FW</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Immunol</span>
|
||
2023 Feb;80:102266.
|
||
Epub 2022 Nov 26
|
||
doi: 10.1016/j.coi.2022.102266.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36446151" target="_blank">36446151</a><a href="/pmc/articles/PMC9918670" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31192812">Complement, infection, and autoimmunity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Conigliaro P,
|
||
Triggianese P,
|
||
Ballanti E,
|
||
Perricone C,
|
||
Perricone R,
|
||
Chimenti MS</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Rheumatol</span>
|
||
2019 Sep;31(5):532-541.
|
||
doi: 10.1097/BOR.0000000000000633.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31192812" target="_blank">31192812</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26212387">Human autoimmune diseases: a comprehensive update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang L,
|
||
Wang FS,
|
||
Gershwin ME</span><br />
|
||
<span class="medgenPMjournal">J Intern Med</span>
|
||
2015 Oct;278(4):369-95.
|
||
Epub 2015 Jul 25
|
||
doi: 10.1111/joim.12395.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26212387" target="_blank">26212387</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autoimmunity%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 (12332)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37165096">Pathogenesis of autoimmune disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pisetsky DS</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2023 Aug;19(8):509-524.
|
||
Epub 2023 May 10
|
||
doi: 10.1038/s41581-023-00720-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37165096" target="_blank">37165096</a><a href="/pmc/articles/PMC10171171" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36446151">The increasing prevalence of autoimmunity and autoimmune diseases: an urgent call to action for improved understanding, diagnosis, treatment, and prevention.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller FW</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Immunol</span>
|
||
2023 Feb;80:102266.
|
||
Epub 2022 Nov 26
|
||
doi: 10.1016/j.coi.2022.102266.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36446151" target="_blank">36446151</a><a href="/pmc/articles/PMC9918670" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34886561">Intestinal Barrier in Human Health and Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Tommaso N,
|
||
Gasbarrini A,
|
||
Ponziani FR</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2021 Dec 6;18(23)
|
||
doi: 10.3390/ijerph182312836.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34886561" target="_blank">34886561</a><a href="/pmc/articles/PMC8657205" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32017656">Vitiligo: Mechanisms of Pathogenesis and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frisoli ML,
|
||
Essien K,
|
||
Harris JE</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Immunol</span>
|
||
2020 Apr 26;38:621-648.
|
||
Epub 2020 Feb 4
|
||
doi: 10.1146/annurev-immunol-100919-023531.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32017656" target="_blank">32017656</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26212387">Human autoimmune diseases: a comprehensive update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang L,
|
||
Wang FS,
|
||
Gershwin ME</span><br />
|
||
<span class="medgenPMjournal">J Intern Med</span>
|
||
2015 Oct;278(4):369-95.
|
||
Epub 2015 Jul 25
|
||
doi: 10.1111/joim.12395.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26212387" target="_blank">26212387</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autoimmunity%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 (9778)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38542128">Autoimmune Thyroiditis and Vitamin D.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Durá-Travé T,
|
||
Gallinas-Victoriano F</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Mar 9;25(6)
|
||
doi: 10.3390/ijms25063154.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38542128" target="_blank">38542128</a><a href="/pmc/articles/PMC10969999" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32007707">CTLA-4: From mechanism to autoimmune therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hosseini A,
|
||
Gharibi T,
|
||
Marofi F,
|
||
Babaloo Z,
|
||
Baradaran B</span><br />
|
||
<span class="medgenPMjournal">Int Immunopharmacol</span>
|
||
2020 Mar;80:106221.
|
||
Epub 2020 Jan 30
|
||
doi: 10.1016/j.intimp.2020.106221.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32007707" target="_blank">32007707</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31073084">Airway inflammation in COPD: progress to precision medicine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brightling C,
|
||
Greening N</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2019 Aug;54(2)
|
||
Epub 2019 Aug 1
|
||
doi: 10.1183/13993003.00651-2019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31073084" target="_blank">31073084</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23857223">Vitamin D and immune function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prietl B,
|
||
Treiber G,
|
||
Pieber TR,
|
||
Amrein K</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2013 Jul 5;5(7):2502-21.
|
||
doi: 10.3390/nu5072502.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23857223" target="_blank">23857223</a><a href="/pmc/articles/PMC3738984" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16096015">DNA vaccine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cui Z</span><br />
|
||
<span class="medgenPMjournal">Adv Genet</span>
|
||
2005;54:257-89.
|
||
doi: 10.1016/S0065-2660(05)54011-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16096015" target="_blank">16096015</a><a href="/pmc/articles/PMC7119308" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autoimmunity%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 (8434)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34967848">Cancer Incidence, Mortality, Years of Life Lost, Years Lived With Disability, and Disability-Adjusted Life Years for 29 Cancer Groups From 2010 to 2019: A Systematic Analysis for the Global Burden of Disease Study 2019.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Global Burden of Disease 2019 Cancer Collaboration,
|
||
Kocarnik JM,
|
||
Compton K,
|
||
Dean FE,
|
||
Fu W,
|
||
Gaw BL,
|
||
Harvey JD,
|
||
Henrikson HJ,
|
||
Lu D,
|
||
Pennini A,
|
||
Xu R,
|
||
Ababneh E,
|
||
Abbasi-Kangevari M,
|
||
Abbastabar H,
|
||
Abd-Elsalam SM,
|
||
Abdoli A,
|
||
Abedi A,
|
||
Abidi H,
|
||
Abolhassani H,
|
||
Adedeji IA,
|
||
Adnani QES,
|
||
Advani SM,
|
||
Afzal MS,
|
||
Aghaali M,
|
||
Ahinkorah BO,
|
||
Ahmad S,
|
||
Ahmad T,
|
||
Ahmadi A,
|
||
Ahmadi S,
|
||
Ahmed Rashid T,
|
||
Ahmed Salih Y,
|
||
Akalu GT,
|
||
Aklilu A,
|
||
Akram T,
|
||
Akunna CJ,
|
||
Al Hamad H,
|
||
Alahdab F,
|
||
Al-Aly Z,
|
||
Ali S,
|
||
Alimohamadi Y,
|
||
Alipour V,
|
||
Aljunid SM,
|
||
Alkhayyat M,
|
||
Almasi-Hashiani A,
|
||
Almasri NA,
|
||
Al-Maweri SAA,
|
||
Almustanyir S,
|
||
Alonso N,
|
||
Alvis-Guzman N,
|
||
Amu H,
|
||
Anbesu EW,
|
||
Ancuceanu R,
|
||
Ansari F,
|
||
Ansari-Moghaddam A,
|
||
Antwi MH,
|
||
Anvari D,
|
||
Anyasodor AE,
|
||
Aqeel M,
|
||
Arabloo J,
|
||
Arab-Zozani M,
|
||
Aremu O,
|
||
Ariffin H,
|
||
Aripov T,
|
||
Arshad M,
|
||
Artaman A,
|
||
Arulappan J,
|
||
Asemi Z,
|
||
Asghari Jafarabadi M,
|
||
Ashraf T,
|
||
Atorkey P,
|
||
Aujayeb A,
|
||
Ausloos M,
|
||
Awedew AF,
|
||
Ayala Quintanilla BP,
|
||
Ayenew T,
|
||
Azab MA,
|
||
Azadnajafabad S,
|
||
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autoimmunity%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 (6241)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34454714">AGA Clinical Practice Update on the Diagnosis and Management of Atrophic Gastritis: Expert Review.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32655543">The Changing Landscape of Autoimmune Hemolytic Anemia.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28515156">Anti-Glomerular Basement Membrane Disease.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28446601">Diffuse parenchymal lung disease.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20162249">Heparin-induced thrombocytopenia.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autoimmunity%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 (9074)</a></div></div>
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</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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<span class="bold">PMID: </span><a href="/pubmed/37686873" target="_blank">37686873</a><a href="/pmc/articles/PMC10490553" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36971966">Microbiota and Thyroid Disease: An Updated Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cheng CY,
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|
||
Park EK,
|
||
Pashazadeh Kan F,
|
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Patel HK,
|
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Patel JR,
|
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Pati S,
|
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Pattanshetty SM,
|
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Paudel U,
|
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Pereira DM,
|
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Pereira RB,
|
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|
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Pillay JD,
|
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|
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|
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Podder I,
|
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Prashant A,
|
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Preotescu L,
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Rabiee M,
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|
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Radfar A,
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|
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|
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|
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Rahim F,
|
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|
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Rahmani AM,
|
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|
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Rajesh A,
|
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|
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Ram P,
|
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|
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Ranabhat K,
|
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|
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|
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|
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Renzaho AMN,
|
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Rezaei N,
|
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Rezaei N,
|
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Rezapour A,
|
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Roberts TJ,
|
||
Rodriguez JAB,
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|
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|
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|
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|
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|
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|
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Salimzadeh H,
|
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|
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Sanabria J,
|
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|
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|
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Sheikhbahaei S,
|
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|
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|
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|
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|
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|
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|
||
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|
||
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|
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|
||
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|
||
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|
||
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|
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|
||
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|
||
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|
||
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|
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|
||
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|
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|
||
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|
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|
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|
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|
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|
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|
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|
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|
||
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|
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|
||
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|
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|
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|
||
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|
||
Tehrani-Banihashemi A,
|
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|
||
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|
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Tessema GA,
|
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Thapar R,
|
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Thavamani A,
|
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Thoguluva Chandrasekar V,
|
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|
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|
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|
||
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|
||
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|
||
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|
||
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|
||
Tripathy JP,
|
||
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|
||
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
||
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|
||
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|
||
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|
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|
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|
||
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|
||
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|
||
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|
||
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|
||
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|
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|
||
Zhang J,
|
||
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|
||
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|
||
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|
||
Ziapour A,
|
||
Zimmermann IR,
|
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|
||
Murray CJL,
|
||
Force LM</span><br />
|
||
<span class="medgenPMjournal">JAMA Oncol</span>
|
||
2022 Mar 1;8(3):420-444.
|
||
doi: 10.1001/jamaoncol.2021.6987.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34967848" target="_blank">34967848</a><a href="/pmc/articles/PMC8719276" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27373108">COGAN'S SYNDROME.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iliescu DA,
|
||
Timaru CM,
|
||
Batras M,
|
||
De Simone A,
|
||
Stefan C</span><br />
|
||
<span class="medgenPMjournal">Rom J Ophthalmol</span>
|
||
2015 Jan-Mar;59(1):6-13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27373108" target="_blank">27373108</a><a href="/pmc/articles/PMC5729811" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autoimmunity%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 (398)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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||
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||
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||
<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0004368%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C0004368%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (13)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0004368%5bDISCUI%5d" target="_blank">See all (13)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Autoimmunity" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22autoimmunity%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Autoimmunity%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Autoimmunity" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Autoimmunity" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Autoimmunity%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=2136" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0004368[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0004368[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=2136" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=2136" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=2136" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d0bb8184f3725e59d9637b">Autoimmunity</a>
|
||
<div class="ralinkpop offscreen_noflow">Autoimmunity<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
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