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<!--
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||
UID=867388
|
||
ConceptID=C4021753
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the immune system</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867388</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.">C4021753</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Immunological abnormality</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:0002715">HP:0002715</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>
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||
<div class="portlet_content ln">An abnormality of the immune system. [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>
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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=C4021753[DISCUI]&test_type=Clinical" ref="ncbi_uid=867388">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=867388" ref="ncbi_uid=867388">V</a></span></span><span class="TLline">Abnormality of the immune system</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="matched_ds">Abnormality of the immune system</span><ul><li><span class="TLline"><a href="/medgen/1702861" ref="tree=MeSH" title="MedGen record for Abnormal immune system morphology">Abnormal immune system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869190" ref="tree=MeSH" title="MedGen record for Abnormal cellular immune system morphology">Abnormal cellular immune system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/508852" ref="tree=MeSH" title="MedGen record for Abnormal leukocyte morphology">Abnormal leukocyte morphology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1684" ref="tree=MeSH" title="MedGen record for Abscess">Abscess</a></span><ul><li><span class="TLline"><a href="/medgen/67033" ref="tree=MeSH" title="MedGen record for Abdominal abscess">Abdominal abscess</a></span></li><li><span class="TLline"><a href="/medgen/214713" ref="tree=MeSH" title="MedGen record for Abscess of adrenal gland">Abscess of adrenal gland</a></span></li><li><span class="TLline"><a href="/medgen/75509" ref="tree=MeSH" title="MedGen record for Abscess of axilla">Abscess of axilla</a></span></li><li><span class="TLline"><a href="/medgen/90973" ref="tree=MeSH" title="MedGen record for Abscess of thyroid">Abscess of thyroid</a></span></li><li><span class="TLline"><a href="/medgen/540787" ref="tree=MeSH" title="MedGen record for Anorectal abscess">Anorectal abscess</a></span></li><li><span class="TLline"><a href="/medgen/2335" ref="tree=MeSH" title="MedGen record for Brain abscess">Brain abscess</a></span></li><li><span class="TLline"><a href="/medgen/56351" ref="tree=MeSH" title="MedGen record for Corneal abscess">Corneal abscess</a></span></li><li><span class="TLline"><a href="/medgen/83075" ref="tree=MeSH" title="MedGen record for Crypt abscess">Crypt abscess</a></span></li><li><span class="TLline"><a href="/medgen/450991" ref="tree=MeSH" title="MedGen record for Cutaneous abscess">Cutaneous abscess</a></span></li><li><span class="TLline"><a href="/medgen/1863505" ref="tree=MeSH" title="MedGen record for Deep neck abscess">Deep neck abscess</a></span></li><li><span class="TLline"><a href="/medgen/82848" ref="tree=MeSH" title="MedGen record for Epidural abscess">Epidural abscess</a></span></li><li><span class="TLline"><a href="/medgen/38999" ref="tree=MeSH" title="MedGen record for Iliopsoas abscess">Iliopsoas abscess</a></span></li><li><span class="TLline"><a href="/medgen/537636" ref="tree=MeSH" title="MedGen record for Inguinal abscess">Inguinal abscess</a></span></li><li><span class="TLline"><a href="/medgen/9529" ref="tree=MeSH" title="MedGen record for Intracranial abscess">Intracranial abscess</a></span></li><li><span class="TLline"><a href="/medgen/508762" ref="tree=MeSH" title="MedGen record for Intrarenal abscess">Intrarenal abscess</a></span></li><li><span class="TLline"><a href="/medgen/636717" ref="tree=MeSH" title="MedGen record for Intratesticular abscess">Intratesticular abscess</a></span></li><li><span class="TLline"><a href="/medgen/6124" ref="tree=MeSH" title="MedGen record for Liver abscess">Liver abscess</a></span></li><li><span class="TLline"><a href="/medgen/7397" ref="tree=MeSH" title="MedGen record for Lung abscess">Lung abscess</a></span></li><li><span class="TLline"><a href="/medgen/473016" ref="tree=MeSH" title="MedGen record for Lymph node abscess">Lymph node abscess</a></span></li><li><span class="TLline"><a href="/medgen/540938" ref="tree=MeSH" title="MedGen record for Mesenteric abscess">Mesenteric abscess</a></span></li><li><span class="TLline"><a href="/medgen/473043" ref="tree=MeSH" title="MedGen record for Microabscess">Microabscess</a></span></li><li><span class="TLline"><a href="/medgen/536797" ref="tree=MeSH" title="MedGen record for Pancreatic abscess">Pancreatic abscess</a></span></li><li><span class="TLline"><a href="/medgen/510105" ref="tree=MeSH" title="MedGen record for Parapharyngeal abscess">Parapharyngeal abscess</a></span></li><li><span class="TLline"><a href="/medgen/205116" ref="tree=MeSH" title="MedGen record for Parathyroid Gland Abscess">Parathyroid Gland Abscess</a></span></li><li><span class="TLline"><a href="/medgen/508024" ref="tree=MeSH" title="MedGen record for Pelvic abscess">Pelvic abscess</a></span></li><li><span class="TLline"><a href="/medgen/14677" ref="tree=MeSH" title="MedGen record for Perianal abscess">Perianal abscess</a></span></li><li><span class="TLline"><a href="/medgen/923333" ref="tree=MeSH" title="MedGen record for Perihepatic Abscess">Perihepatic Abscess</a></span></li><li><span class="TLline"><a href="/medgen/536780" ref="tree=MeSH" title="MedGen record for Perinephric abscess">Perinephric abscess</a></span></li><li><span class="TLline"><a href="/medgen/14687" ref="tree=MeSH" title="MedGen record for Periodontal abscess">Periodontal abscess</a></span></li><li><span class="TLline"><a href="/medgen/451031" ref="tree=MeSH" title="MedGen record for Peritoneal abscess">Peritoneal abscess</a></span></li><li><span class="TLline"><a href="/medgen/45819" ref="tree=MeSH" title="MedGen record for Peritonsillar abscess">Peritonsillar abscess</a></span></li><li><span class="TLline"><a href="/medgen/925906" ref="tree=MeSH" title="MedGen record for Prevertebral Abscess">Prevertebral Abscess</a></span></li><li><span class="TLline"><a href="/medgen/19600" ref="tree=MeSH" title="MedGen record for Pyoureter">Pyoureter</a></span></li><li><span class="TLline"><a href="/medgen/57700" ref="tree=MeSH" title="MedGen record for Rectal abscess">Rectal abscess</a></span></li><li><span class="TLline"><a href="/medgen/510215" ref="tree=MeSH" title="MedGen record for Renal and perinephric abscess">Renal and perinephric abscess</a></span></li><li><span class="TLline"><a href="/medgen/536744" ref="tree=MeSH" title="MedGen record for Retroperitoneal abscess">Retroperitoneal abscess</a></span></li><li><span class="TLline"><a href="/medgen/57614" ref="tree=MeSH" title="MedGen record for Retropharyngeal abscess">Retropharyngeal abscess</a></span></li><li><span class="TLline"><a href="/medgen/68667" ref="tree=MeSH" title="MedGen record for Spinal epidural abscess">Spinal epidural abscess</a></span></li><li><span class="TLline"><a href="/medgen/124428" ref="tree=MeSH" title="MedGen record for Splenic abscess">Splenic abscess</a></span></li><li><span class="TLline"><a href="/medgen/639046" ref="tree=MeSH" title="MedGen record for Sterile abscess">Sterile abscess</a></span></li><li><span class="TLline"><a href="/medgen/20987" ref="tree=MeSH" title="MedGen record for Subdiaphragmatic abscess">Subdiaphragmatic abscess</a></span></li><li><span class="TLline"><a href="/medgen/1864345" ref="tree=MeSH" title="MedGen record for Sulfur-containing abscess">Sulfur-containing abscess</a></span></li><li><span class="TLline"><a href="/medgen/10652" ref="tree=MeSH" title="MedGen record for Suppurative periapical periodontitis">Suppurative periapical periodontitis</a></span></li><li><span class="TLline"><a href="/medgen/99235" ref="tree=MeSH" title="MedGen record for Tooth abscess">Tooth abscess</a></span></li><li><span class="TLline"><a href="/medgen/508243" ref="tree=MeSH" title="MedGen record for Tubo-ovarian abscess">Tubo-ovarian abscess</a></span></li><li><span class="TLline"><a href="/medgen/155449" ref="tree=MeSH" title="MedGen record for Vaginal Abscess">Vaginal Abscess</a></span></li><li><span class="TLline"><a href="/medgen/537453" ref="tree=MeSH" title="MedGen record for Vulvar abscess">Vulvar abscess</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5376" ref="tree=MeSH" title="MedGen record for Granuloma">Granuloma</a></span><ul><li><span class="TLline"><a href="/medgen/1053878" ref="tree=MeSH" title="MedGen record for Breast granuloma">Breast granuloma</a></span></li><li><span class="TLline"><a href="/medgen/137683" ref="tree=MeSH" title="MedGen record for Cholesterol granuloma">Cholesterol granuloma</a></span></li><li><span class="TLline"><a href="/medgen/101797" ref="tree=MeSH" title="MedGen record for Cutaneous granuloma">Cutaneous granuloma</a></span></li><li><span class="TLline"><a href="/medgen/4979" ref="tree=MeSH" title="MedGen record for Eosinophilic granuloma">Eosinophilic granuloma</a></span></li><li><span class="TLline"><a href="/medgen/3088" ref="tree=MeSH" title="MedGen record for Eosinophilic granulomatosis with polyangiitis">Eosinophilic granulomatosis with polyangiitis</a></span></li><li><span class="TLline"><a href="/medgen/6672" ref="tree=MeSH" title="MedGen record for Foreign body granuloma">Foreign body granuloma</a></span></li><li><span class="TLline"><a href="/medgen/6673" ref="tree=MeSH" title="MedGen record for Giant cell granuloma">Giant cell granuloma</a></span></li><li><span class="TLline"><a href="/medgen/88319" ref="tree=MeSH" title="MedGen record for Granuloma annulare">Granuloma annulare</a></span></li><li><span class="TLline"><a href="/medgen/232257" ref="tree=MeSH" title="MedGen record for Granuloma by Site">Granuloma by Site</a></span></li><li><span class="TLline"><a href="/medgen/6675" ref="tree=MeSH" title="MedGen record for Granuloma, Respiratory Tract">Granuloma, Respiratory Tract</a></span></li><li><span class="TLline"><a href="/medgen/109001" ref="tree=MeSH" title="MedGen record for Infective granuloma">Infective granuloma</a></span></li><li><span class="TLline"><a href="/medgen/316438" ref="tree=MeSH" title="MedGen record for Lipogranulomatosis">Lipogranulomatosis</a></span></li><li><span class="TLline"><a href="/medgen/266158" ref="tree=MeSH" title="MedGen record for Necrobiotic xanthogranuloma">Necrobiotic xanthogranuloma</a></span></li><li><span class="TLline"><a href="/medgen/507852" ref="tree=MeSH" title="MedGen record for Necrotizing granulomatous inflammation">Necrotizing granulomatous inflammation</a></span></li><li><span class="TLline"><a href="/medgen/569107" ref="tree=MeSH" title="MedGen record for Non-necrotizing granuloma">Non-necrotizing granuloma</a></span></li><li><span class="TLline"><a href="/medgen/42293" ref="tree=MeSH" title="MedGen record for Plasma cell granuloma">Plasma cell granuloma</a></span></li><li><span class="TLline"><a href="/medgen/39085" ref="tree=MeSH" title="MedGen record for Pyogenic granuloma">Pyogenic granuloma</a></span></li><li><span class="TLline"><a href="/medgen/297" ref="tree=MeSH" title="MedGen record for Skin epithelioid hemangioma">Skin epithelioid hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/87167" ref="tree=MeSH" title="MedGen record for Spermatogenic granuloma">Spermatogenic granuloma</a></span></li><li><span class="TLline"><a href="/medgen/854516" ref="tree=MeSH" title="MedGen record for Suppurative Granuloma">Suppurative Granuloma</a></span></li></ul></li></ul></li><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="TLline"><a href="/medgen/869118" ref="tree=MeSH" title="MedGen record for Abnormal immune serum protein physiology">Abnormal immune serum protein physiology</a></span><ul><li><span class="TLline"><a href="/medgen/869117" ref="tree=MeSH" title="MedGen record for Abnormal circulating cytokine concentration">Abnormal circulating cytokine concentration</a></span></li><li><span class="TLline"><a href="/medgen/1627114" ref="tree=MeSH" title="MedGen record for Abnormal cytokine signaling">Abnormal cytokine signaling</a></span></li><li><span class="TLline"><a href="/medgen/869116" ref="tree=MeSH" title="MedGen record for Abnormality of cytokine secretion">Abnormality of cytokine secretion</a></span></li><li><span class="TLline"><a href="/medgen/1863818" ref="tree=MeSH" title="MedGen record for Elevated circulating interleukin 1 receptor antagonist concentration">Elevated circulating interleukin 1 receptor antagonist concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868411" ref="tree=MeSH" title="MedGen record for Abnormal inflammatory response">Abnormal inflammatory response</a></span><ul><li><span class="TLline"><a href="/medgen/868410" ref="tree=MeSH" title="MedGen record for Decreased inflammatory response">Decreased inflammatory response</a></span></li><li><span class="TLline"><a href="/medgen/868409" ref="tree=MeSH" title="MedGen record for Increased inflammatory response">Increased inflammatory response</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1780121" ref="tree=MeSH" title="MedGen record for Abnormal leukocyte physiology">Abnormal leukocyte physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1627345" ref="tree=MeSH" title="MedGen record for Abnormal lymphocyte physiology">Abnormal lymphocyte physiology</a></span></li><li><span class="TLline"><a href="/medgen/1788791" ref="tree=MeSH" title="MedGen record for Leukocyte migration defect">Leukocyte migration defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1627791" ref="tree=MeSH" title="MedGen record for Abnormal lymphocyte surface marker expression">Abnormal lymphocyte surface marker expression</a></span><ul><li><span class="TLline"><a href="/medgen/867397" ref="tree=MeSH" title="MedGen record for Reduced lymphocyte surface expression of CD43">Reduced lymphocyte surface expression of CD43</a></span></li><li><span class="TLline"><a href="/medgen/1625346" ref="tree=MeSH" title="MedGen record for Reduced T cell CD40 expression">Reduced T cell CD40 expression</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1057089" ref="tree=MeSH" title="MedGen record for Abnormal MHC surface expression">Abnormal MHC surface expression</a></span><ul><li><span class="TLline"><a href="/medgen/1624343" ref="tree=MeSH" title="MedGen record for Abnormal MHC II cell surface expression">Abnormal MHC II cell surface expression</a></span></li><li><span class="TLline"><a href="/medgen/1056560" ref="tree=MeSH" title="MedGen record for Reduced MHC I cell surface expression">Reduced MHC I cell surface expression</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1684797" ref="tree=MeSH" title="MedGen record for Abnormal phagocytosis">Abnormal phagocytosis</a></span><ul><li><span class="TLline"><a href="/medgen/375405" ref="tree=MeSH" title="MedGen record for Absence of bactericidal oxidative respiratory burst in phagocytes">Absence of bactericidal oxidative respiratory burst in phagocytes</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/461860" ref="tree=MeSH" title="MedGen record for Abnormality of humoral immunity">Abnormality of humoral immunity</a></span><ul><li><span class="TLline"><a href="/medgen/870756" ref="tree=MeSH" title="MedGen record for Abnormality of complement system">Abnormality of complement system</a></span></li><li><span class="TLline"><a href="/medgen/854473" ref="tree=MeSH" title="MedGen record for Circulating immune complexes">Circulating immune complexes</a></span></li><li><span class="TLline"><a href="/medgen/3673" ref="tree=MeSH" title="MedGen record for Cryoglobulinemia">Cryoglobulinemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2136" ref="tree=MeSH" title="MedGen record for Autoimmunity">Autoimmunity</a></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></li><li><span class="TLline"><a href="/medgen/1918" ref="tree=MeSH" title="MedGen record for Autoimmune hemolytic anemia">Autoimmune hemolytic anemia</a></span></li><li><span class="TLline"><a href="/medgen/116621" ref="tree=MeSH" title="MedGen record for Autoimmune thrombocytopenia">Autoimmune thrombocytopenia</a></span></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></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></li></ul></li><li><span class="TLline"><a href="/medgen/335001" ref="tree=MeSH" title="MedGen record for Immune dysregulation">Immune dysregulation</a></span></li><li><span class="TLline"><a href="/medgen/7034" ref="tree=MeSH" title="MedGen record for Immunodeficiency">Immunodeficiency</a></span><ul><li><span class="TLline"><a href="/medgen/168" ref="tree=MeSH" title="MedGen record for Agammaglobulinemia">Agammaglobulinemia</a></span></li><li><span class="TLline"><a href="/medgen/481620" ref="tree=MeSH" title="MedGen record for Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome">Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1641265" ref="tree=MeSH" title="MedGen record for BENTA disease">BENTA disease</a></span></li><li><span class="TLline"><a href="/medgen/384935" ref="tree=MeSH" title="MedGen record for CD40 Ligand Deficiency">CD40 Ligand Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/344444" ref="tree=MeSH" title="MedGen record for Cellular immunodeficiency">Cellular immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/1783688" ref="tree=MeSH" title="MedGen record for Combined Immunodeficiencies Associated with Syndromic Features">Combined Immunodeficiencies Associated with Syndromic Features</a></span></li><li><span class="TLline"><a href="/medgen/751396" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency">Combined immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/40407" ref="tree=MeSH" title="MedGen record for Common variable immunodeficiency">Common variable immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/232098" ref="tree=MeSH" title="MedGen record for Congenital Disorder of Natural Immunity">Congenital Disorder of Natural Immunity</a></span></li><li><span class="TLline"><a href="/medgen/9320" ref="tree=MeSH" title="MedGen record for Deltaretrovirus infections">Deltaretrovirus infections</a></span></li><li><span class="TLline"><a href="/medgen/901370" ref="tree=MeSH" title="MedGen record for DOCK2 deficiency">DOCK2 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/41679" ref="tree=MeSH" title="MedGen record for Dysgammaglobulinemia">Dysgammaglobulinemia</a></span></li><li><span class="TLline"><a href="/medgen/375786" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia and immune deficiency">Ectodermal dysplasia and immune deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1648396" ref="tree=MeSH" title="MedGen record for Epidermodysplasia verruciformis, susceptibility to, 4">Epidermodysplasia verruciformis, susceptibility to, 4</a></span></li><li><span class="TLline"><a href="/medgen/5583" ref="tree=MeSH" title="MedGen record for Human immunodeficiency virus infection">Human immunodeficiency virus infection</a></span></li><li><span class="TLline"><a href="/medgen/101091" ref="tree=MeSH" title="MedGen record for Humoral immune defect">Humoral immune defect</a></span></li><li><span class="TLline"><a href="/medgen/1616160" ref="tree=MeSH" title="MedGen record for Humoral immunodeficiency">Humoral immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/124420" ref="tree=MeSH" title="MedGen record for Hyperimmunoglobulin M syndrome">Hyperimmunoglobulin M syndrome</a></span></li><li><span class="TLline"><a href="/medgen/926467" ref="tree=MeSH" title="MedGen record for Hypomorphic RAG1 Deficiency">Hypomorphic RAG1 Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/926459" ref="tree=MeSH" title="MedGen record for IFN-gamma receptor 1 deficiency">IFN-gamma receptor 1 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1786515" ref="tree=MeSH" title="MedGen record for Immunodeficiencies Affecting Cellular and Humoral Immunity - Combined Immune Deficiency">Immunodeficiencies Affecting Cellular and Humoral Immunity - Combined Immune Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1780796" ref="tree=MeSH" title="MedGen record for Immunodeficiencies Affecting Cellular and Humoral Immunity - Severe Combined Immune Deficiency">Immunodeficiencies Affecting Cellular and Humoral Immunity - Severe Combined Immune Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1627819" ref="tree=MeSH" title="MedGen record for Immunodeficiency 11b with atopic dermatitis">Immunodeficiency 11b with atopic dermatitis</a></span></li><li><span class="TLline"><a href="/medgen/811535" ref="tree=MeSH" title="MedGen record for Immunodeficiency 14">Immunodeficiency 14</a></span></li><li><span class="TLline"><a href="/medgen/862808" ref="tree=MeSH" title="MedGen record for Immunodeficiency 23">Immunodeficiency 23</a></span></li><li><span class="TLline"><a href="/medgen/860386" ref="tree=MeSH" title="MedGen record for Immunodeficiency 27A">Immunodeficiency 27A</a></span></li><li><span class="TLline"><a href="/medgen/862384" ref="tree=MeSH" title="MedGen record for Immunodeficiency 28">Immunodeficiency 28</a></span></li><li><span class="TLline"><a href="/medgen/863371" ref="tree=MeSH" title="MedGen record for Immunodeficiency 36">Immunodeficiency 36</a></span></li><li><span class="TLline"><a href="/medgen/1780510" ref="tree=MeSH" title="MedGen record for Immunodeficiency due to Functional Defects">Immunodeficiency due to Functional Defects</a></span></li><li><span class="TLline"><a href="/medgen/1781353" ref="tree=MeSH" title="MedGen record for Immunodeficiency due to Quantitative Defects">Immunodeficiency due to Quantitative Defects</a></span></li><li><span class="TLline"><a href="/medgen/926446" ref="tree=MeSH" title="MedGen record for Immunodeficiency of Unknown Origin">Immunodeficiency of Unknown Origin</a></span></li><li><span class="TLline"><a href="/medgen/585013" ref="tree=MeSH" title="MedGen record for Inborn error of immunity">Inborn error of immunity</a></span></li><li><span class="TLline"><a href="/medgen/1785891" ref="tree=MeSH" title="MedGen record for Interferon Regulatory Factor 8 Deficiency">Interferon Regulatory Factor 8 Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/7418" ref="tree=MeSH" title="MedGen record for Lymphopenia">Lymphopenia</a></span></li><li><span class="TLline"><a href="/medgen/924384" ref="tree=MeSH" title="MedGen record for Lymphoproliferative Syndrome 1">Lymphoproliferative Syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/862386" ref="tree=MeSH" title="MedGen record for Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency">Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/481660" ref="tree=MeSH" title="MedGen record for Monocytopenia with susceptibility to infections">Monocytopenia with susceptibility to infections</a></span></li><li><span class="TLline"><a href="/medgen/5130" ref="tree=MeSH" title="MedGen record for Myalgic encephalomeyelitis/chronic fatigue syndrome">Myalgic encephalomeyelitis/chronic fatigue syndrome</a></span></li><li><span class="TLline"><a href="/medgen/925941" ref="tree=MeSH" title="MedGen record for Perforin Deficiency">Perforin Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/14713" ref="tree=MeSH" title="MedGen record for Phagocyte bactericidal dysfunction">Phagocyte bactericidal dysfunction</a></span></li><li><span class="TLline"><a href="/medgen/1778857" ref="tree=MeSH" title="MedGen record for Predominantly Antibody Deficiencies">Predominantly Antibody Deficiencies</a></span></li><li><span class="TLline"><a href="/medgen/351256" ref="tree=MeSH" title="MedGen record for Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency">Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency</a></span></li><li><span class="TLline"><a href="/medgen/82898" ref="tree=MeSH" title="MedGen record for Reduced circulating complement concentration">Reduced circulating complement concentration</a></span></li><li><span class="TLline"><a href="/medgen/862670" ref="tree=MeSH" title="MedGen record for Severe combined immunodeficiency due to LCK deficiency">Severe combined immunodeficiency due to LCK deficiency</a></span></li><li><span class="TLline"><a href="/medgen/925792" ref="tree=MeSH" title="MedGen record for STXBP2 Deficiency">STXBP2 Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/226894" ref="tree=MeSH" title="MedGen record for T-cell immunodeficiency">T-cell immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/925674" ref="tree=MeSH" title="MedGen record for TERC Deficiency">TERC Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/925673" ref="tree=MeSH" title="MedGen record for TERT Deficiency">TERT Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/925612" ref="tree=MeSH" title="MedGen record for UNC13D Deficiency">UNC13D Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/477076" ref="tree=MeSH" title="MedGen record for X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia">X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia</a></span></li><li><span class="TLline"><a href="/medgen/107498" ref="tree=MeSH" title="MedGen record for X-linked lymphoproliferative syndrome">X-linked lymphoproliferative syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419767" ref="tree=MeSH" title="MedGen record for ZAP70-Related Severe Combined Immunodeficiency">ZAP70-Related Severe Combined Immunodeficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/451006" ref="tree=MeSH" title="MedGen record for Immunologic hypersensitivity">Immunologic hypersensitivity</a></span><ul><li><span class="TLline"><a href="/medgen/1691626" ref="tree=MeSH" title="MedGen record for Airborn particle hypersensitivity">Airborn particle hypersensitivity</a></span></li><li><span class="TLline"><a href="/medgen/9370" ref="tree=MeSH" title="MedGen record for Allergy">Allergy</a></span></li><li><span class="TLline"><a href="/medgen/1373755" ref="tree=MeSH" title="MedGen record for Anaphylactic shock">Anaphylactic shock</a></span></li><li><span class="TLline"><a href="/medgen/2109" ref="tree=MeSH" title="MedGen record for Asthma">Asthma</a></span></li><li><span class="TLline"><a href="/medgen/3291" ref="tree=MeSH" title="MedGen record for Celiac disease">Celiac disease</a></span></li><li><span class="TLline"><a href="/medgen/1688804" ref="tree=MeSH" title="MedGen record for Immediate-type hypersensitivity drug reaction">Immediate-type hypersensitivity drug reaction</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1618415" ref="tree=MeSH" title="MedGen record for Impaired antigen-specific response">Impaired antigen-specific response</a></span><ul><li><span class="TLline"><a href="/medgen/1747183" ref="tree=MeSH" title="MedGen record for Decreased circulating level of specific antibody">Decreased circulating level of specific antibody</a></span></li><li><span class="TLline"><a href="/medgen/1619722" ref="tree=MeSH" title="MedGen record for Impaired pathogen-specific CD8 cytoxicity">Impaired pathogen-specific CD8 cytoxicity</a></span></li><li><span class="TLline"><a href="/medgen/1621145" ref="tree=MeSH" title="MedGen record for Reduced antigen-specific T cell proliferation">Reduced antigen-specific T cell proliferation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/48626" ref="tree=MeSH" title="MedGen record for Sepsis">Sepsis</a></span><ul><li><span class="TLline"><a href="/medgen/1636613" ref="tree=MeSH" title="MedGen record for Maternal Sepsis">Maternal Sepsis</a></span></li><li><span class="TLline"><a href="/medgen/96816" ref="tree=MeSH" title="MedGen record for Neonatal sepsis">Neonatal sepsis</a></span></li><li><span class="TLline"><a href="/medgen/509045" ref="tree=MeSH" title="MedGen record for Salmonella Septicemia">Salmonella Septicemia</a></span></li><li><span class="TLline"><a href="/medgen/318553" ref="tree=MeSH" title="MedGen record for Severe Sepsis">Severe Sepsis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1685049" ref="tree=MeSH" title="MedGen record for Unusual infection">Unusual infection</a></span><ul><li><span class="TLline"><a href="/medgen/508751" ref="tree=MeSH" title="MedGen record for Chronic infection">Chronic infection</a></span></li><li><span class="TLline"><a href="/medgen/1698576" ref="tree=MeSH" title="MedGen record for Infection following live vaccination">Infection following live vaccination</a></span></li><li><span class="TLline"><a href="/medgen/18177" ref="tree=MeSH" title="MedGen record for Opportunistic infection">Opportunistic infection</a></span></li><li><span class="TLline"><a href="/medgen/65998" ref="tree=MeSH" title="MedGen record for Recurrent infections">Recurrent infections</a></span></li><li><span class="TLline"><a href="/medgen/1700844" ref="tree=MeSH" title="MedGen record for Severe infection">Severe infection</a></span></li><li><span class="TLline"><a href="/medgen/1693742" ref="tree=MeSH" title="MedGen record for Unusual fungal infection">Unusual fungal infection</a></span></li><li><span class="TLline"><a href="/medgen/1697275" ref="tree=MeSH" title="MedGen record for Unusual helminthic infection">Unusual helminthic infection</a></span></li><li><span class="TLline"><a href="/medgen/1691884" ref="tree=MeSH" title="MedGen record for Unusual infection by anatomical site">Unusual infection by anatomical site</a></span></li><li><span class="TLline"><a href="/medgen/1707246" ref="tree=MeSH" title="MedGen record for Unusual parasitic infection">Unusual parasitic infection</a></span></li><li><span class="TLline"><a href="/medgen/1686599" ref="tree=MeSH" title="MedGen record for Unusual protozoan infection">Unusual protozoan infection</a></span></li><li><span class="TLline"><a href="/medgen/1815069" ref="tree=MeSH" title="MedGen record for Unusual viral infection">Unusual viral infection</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/892707" ref="tree=MeSH" title="MedGen record for Abnormality of the lymphatic system">Abnormality of the lymphatic system</a></span><ul><li><span class="TLline"><a href="/medgen/852420" ref="tree=MeSH" title="MedGen record for Abnormal lymph node morphology">Abnormal lymph node morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1841837" ref="tree=MeSH" title="MedGen record for Abnormal lymph node cell composition">Abnormal lymph node cell composition</a></span></li><li><span class="TLline"><a href="/medgen/1369876" ref="tree=MeSH" title="MedGen record for Abnormality of mesenteric lymph nodes">Abnormality of mesenteric lymph nodes</a></span></li><li><span class="TLline"><a href="/medgen/376112" ref="tree=MeSH" title="MedGen record for Absence of lymph node germinal center">Absence of lymph node germinal center</a></span></li><li><span class="TLline"><a href="/medgen/1780141" ref="tree=MeSH" title="MedGen record for Absent peripheral lymph nodes in presence of infection">Absent peripheral lymph nodes in presence of infection</a></span></li><li><span class="TLline"><a href="/medgen/1052411" ref="tree=MeSH" title="MedGen record for Eggshell calcification of lymph nodes">Eggshell calcification of lymph nodes</a></span></li><li><span class="TLline"><a href="/medgen/1700647" ref="tree=MeSH" title="MedGen record for Increased number of lymph nodes">Increased number of lymph nodes</a></span></li><li><span class="TLline"><a href="/medgen/892318" ref="tree=MeSH" title="MedGen record for Lymph node hypoplasia">Lymph node hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/1841943" ref="tree=MeSH" title="MedGen record for Lymph node necrosis">Lymph node necrosis</a></span></li><li><span class="TLline"><a href="/medgen/1841856" ref="tree=MeSH" title="MedGen record for Lymph node xanthomatosis">Lymph node xanthomatosis</a></span></li><li><span class="TLline"><a href="/medgen/96929" ref="tree=MeSH" title="MedGen record for Lymphadenopathy">Lymphadenopathy</a></span></li><li><span class="TLline"><a href="/medgen/1053564" ref="tree=MeSH" title="MedGen record for Mediastinal lymph node calcification">Mediastinal lymph node calcification</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867589" ref="tree=MeSH" title="MedGen record for Abnormal lymphatic vessel morphology">Abnormal lymphatic vessel morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1611285" ref="tree=MeSH" title="MedGen record for Abnormal thoracic duct morphology">Abnormal thoracic duct morphology</a></span></li><li><span class="TLline"><a href="/medgen/868013" ref="tree=MeSH" title="MedGen record for Aplasia of lymphatic vessels">Aplasia of lymphatic vessels</a></span></li><li><span class="TLline"><a href="/medgen/871105" ref="tree=MeSH" title="MedGen record for Hypoplasia of lymphatic vessels">Hypoplasia of lymphatic vessels</a></span></li><li><span class="TLline"><a href="/medgen/9827" ref="tree=MeSH" title="MedGen record for Lymphangiectasis">Lymphangiectasis</a></span></li><li><span class="TLline"><a href="/medgen/64616" ref="tree=MeSH" title="MedGen record for Lymphatic vessel neoplasm">Lymphatic vessel neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/1788937" ref="tree=MeSH" title="MedGen record for Tortuous lymphatic vessels">Tortuous lymphatic vessels</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870577" ref="tree=MeSH" title="MedGen record for Abnormal pulmonary lymphatics">Abnormal pulmonary lymphatics</a></span></li><li><span class="TLline"><a href="/medgen/852464" ref="tree=MeSH" title="MedGen record for Abnormal thymus morphology">Abnormal thymus morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892728" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the thymus">Aplasia/Hypoplasia of the thymus</a></span></li><li><span class="TLline"><a href="/medgen/869369" ref="tree=MeSH" title="MedGen record for Ectopic thymus tissue">Ectopic thymus tissue</a></span></li><li><span class="TLline"><a href="/medgen/21164" ref="tree=MeSH" title="MedGen record for Thymic cyst">Thymic cyst</a></span></li><li><span class="TLline"><a href="/medgen/341815" ref="tree=MeSH" title="MedGen record for Thymic hormone decreased">Thymic hormone decreased</a></span></li><li><span class="TLline"><a href="/medgen/11809" ref="tree=MeSH" title="MedGen record for Thymus hyperplasia">Thymus hyperplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871264" ref="tree=MeSH" title="MedGen record for Abnormality of the spleen">Abnormality of the spleen</a></span><ul><li><span class="TLline"><a href="/medgen/1382891" ref="tree=MeSH" title="MedGen record for Abnormal spleen morphology">Abnormal spleen morphology</a></span></li><li><span class="TLline"><a href="/medgen/1372718" ref="tree=MeSH" title="MedGen record for Abnormal spleen physiology">Abnormal spleen physiology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867590" ref="tree=MeSH" title="MedGen record for Abnormality of the tonsils">Abnormality of the tonsils</a></span><ul><li><span class="TLline"><a href="/medgen/892897" ref="tree=MeSH" title="MedGen record for Abnormal nasopharyngeal adenoid morphology">Abnormal nasopharyngeal adenoid morphology</a></span></li><li><span class="TLline"><a href="/medgen/892833" ref="tree=MeSH" title="MedGen record for Abnormality of lingual tonsil">Abnormality of lingual tonsil</a></span></li><li><span class="TLline"><a href="/medgen/154366" ref="tree=MeSH" title="MedGen record for Absent tonsils">Absent tonsils</a></span></li><li><span class="TLline"><a href="/medgen/78800" ref="tree=MeSH" title="MedGen record for Enlarged tonsils">Enlarged tonsils</a></span></li><li><span class="TLline"><a href="/medgen/909769" ref="tree=MeSH" title="MedGen record for Orange discolored tonsils">Orange discolored tonsils</a></span></li><li><span class="TLline"><a href="/medgen/1781351" ref="tree=MeSH" title="MedGen record for Recurrent tonsillitis">Recurrent tonsillitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6153" ref="tree=MeSH" title="MedGen record for Lymphangioma">Lymphangioma</a></span><ul><li><span class="TLline"><a href="/medgen/104729" ref="tree=MeSH" title="MedGen record for Cavernous lymphangioma">Cavernous lymphangioma</a></span></li><li><span class="TLline"><a href="/medgen/1788893" ref="tree=MeSH" title="MedGen record for Conjunctival Lymphangioma">Conjunctival Lymphangioma</a></span></li><li><span class="TLline"><a href="/medgen/60195" ref="tree=MeSH" title="MedGen record for Cystic hygroma">Cystic hygroma</a></span></li><li><span class="TLline"><a href="/medgen/825766" ref="tree=MeSH" title="MedGen record for Diffuse lymphatic malformation">Diffuse lymphatic malformation</a></span></li><li><span class="TLline"><a href="/medgen/232546" ref="tree=MeSH" title="MedGen record for Gastric Lymphangioma">Gastric Lymphangioma</a></span></li><li><span class="TLline"><a href="/medgen/45248" ref="tree=MeSH" title="MedGen record for Gorham-Stout disease">Gorham-Stout disease</a></span></li><li><span class="TLline"><a href="/medgen/90804" ref="tree=MeSH" title="MedGen record for Hemolymphangioma">Hemolymphangioma</a></span></li><li><span class="TLline"><a href="/medgen/272766" ref="tree=MeSH" title="MedGen record for Intra-Abdominal Lymphangioma">Intra-Abdominal Lymphangioma</a></span></li><li><span class="TLline"><a href="/medgen/1702492" ref="tree=MeSH" title="MedGen record for Kidney Lymphangioma">Kidney Lymphangioma</a></span></li><li><span class="TLline"><a href="/medgen/7411" ref="tree=MeSH" title="MedGen record for Lymphangioendothelioma">Lymphangioendothelioma</a></span></li><li><span class="TLline"><a href="/medgen/87471" ref="tree=MeSH" title="MedGen record for Lymphangioma Circumscriptum">Lymphangioma Circumscriptum</a></span></li><li><span class="TLline"><a href="/medgen/734711" ref="tree=MeSH" title="MedGen record for Lymphangioma of the orbit">Lymphangioma of the orbit</a></span></li><li><span class="TLline"><a href="/medgen/462225" ref="tree=MeSH" title="MedGen record for Lymphedema-posterior choanal atresia syndrome">Lymphedema-posterior choanal atresia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/898684" ref="tree=MeSH" title="MedGen record for Mediastinal cystic lymphangioma">Mediastinal cystic lymphangioma</a></span></li><li><span class="TLline"><a href="/medgen/233684" ref="tree=MeSH" title="MedGen record for Mediastinal Lymphangioma">Mediastinal Lymphangioma</a></span></li><li><span class="TLline"><a href="/medgen/1804470" ref="tree=MeSH" title="MedGen record for Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome">Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/235466" ref="tree=MeSH" title="MedGen record for Parotid Gland Lymphangioma">Parotid Gland Lymphangioma</a></span></li><li><span class="TLline"><a href="/medgen/232399" ref="tree=MeSH" title="MedGen record for Skin lymphangioma">Skin lymphangioma</a></span></li><li><span class="TLline"><a href="/medgen/1651906" ref="tree=MeSH" title="MedGen record for Thyroid Gland Lymphangioma">Thyroid Gland Lymphangioma</a></span></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="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_6915"><div><strong>Hereditary insensitivity to pain with anhidrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6915</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.">C0020074</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">NTRK1 congenital insensitivity to pain with anhidrosis (NTRK1-CIPA) is characterized by insensitivity to pain, anhidrosis (the inability to sweat), and intellectual disability. The ability to sense all pain (including visceral pain) is absent, resulting in repeated injuries including: oral self-mutilation (biting of tongue, lips, and buccal mucosa); biting of fingertips; bruising, scarring, and infection of the skin; multiple bone fractures (many of which fail to heal properly); and recurrent joint dislocations resulting in joint deformity. Sense of touch, vibration, and position are normal. Anhidrosis predisposes to recurrent febrile episodes that are often the initial manifestation of NTRK1-CIPA. Hypothermia in cold environments also occurs. Intellectual disability of varying degree is observed in most affected individuals; hyperactivity and emotional lability are common.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/6915">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>
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<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>
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<div class="spaceAbove nowrap">See: <a href="/medgen/7764">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_64430"><div><strong>Roussy-Lévy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>64430</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.">C0205713</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Roussy-Levy syndrome is an autosomal dominant disorder characterized by early onset of prominent ataxia followed by late onset of mild motor involvement. Symptoms progress very slowly, and affected individuals may remain ambulatory throughout life (Auer-Grumbach et al., 1998; Plante-Bordeneuve et al., 1999).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/64430">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_96015"><div><strong>Myeloperoxidase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96015</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.">C0398595</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 rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/96015">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_162881"><div><strong>Smith-Magenis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162881</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.">C0795864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. Toileting difficulties are common. Significant anxiety is common as are problems with executive functioning, including inattention, distractibility, hyperactivity, and impulsivity. Maladaptive behaviors include frequent outbursts / temper tantrums, attention-seeking behaviors, opposition, aggression, and self-injurious behaviors including self-hitting, self-biting, skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. An underlying developmental asynchrony, specifically emotional maturity delayed beyond intellectual functioning, may also contribute to maladaptive behaviors in people with SMS.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/162881">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_164212"><div><strong>SHORT syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>164212</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.">C0878684</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">SHORT syndrome is a mnemonic for short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay. It is now recognized that the features most consistently observed in SHORT syndrome are mild intrauterine growth restriction (IUGR); mild to moderate short stature; partial lipodystrophy (evident in the face, and later in the chest and upper extremities, often sparing the buttocks and legs); and a characteristic facial gestalt. Insulin resistance may be evident in mid-childhood or adolescence, although diabetes mellitus typically does not develop until early adulthood. Other frequent features include Axenfeld-Rieger anomaly or related ocular anterior chamber dysgenesis, delayed dentition and other dental issues, and sensorineural hearing loss.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/164212">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_332086"><div><strong>Systemic lupus erythematosus, susceptibility to, 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332086</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.">C1835919</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">SLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of cells involved in clotting (platelets), which leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.\n\nSystemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs.\n\nAbout a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE.\n\nPeople with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/332086">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_333311"><div><strong>Radiation sensitivity of natural killer activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333311</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.">C1839408</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/333311">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_326692"><div><strong>Immune suppression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326692</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.">C1840264</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/326692">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_330741"><div><strong>Globulin anomaly involving beta (2A)-globulin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330741</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.">C1842009</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/330741">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_338806"><div><strong>Echo virus 11 sensitivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338806</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.">C1851888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/338806">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_344562"><div><strong>Inosine phosphorylase deficiency, immune defect due to</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344562</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.">C1855737</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/344562">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_344569"><div><strong>Immunoglobulin d level in plasma, low</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344569</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.">C1855761</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/344569">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_368500"><div><strong>Leprosy, susceptibility to, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>368500</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.">C1968668</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">In any form of leprosy, episodes called reactions can occur, and can lead to further nerve damage. These episodes can include reversal reactions, which involve pain and swelling of the skin lesions and the nerves in the hands and feet. People with the more severe forms of leprosy can develop a type of reaction called erythema nodosum leprosum (ENL). These episodes involve fever and painful skin nodules. In addition, painful, swollen nerves can occur. ENL can also lead to inflammation of the joints, eyes, and the testicles in men.\n\nLeprosy has long been stigmatized because of its infectious nature and the disfigurement it can cause. This stigma can cause social and emotional problems for affected individuals. However, modern treatments can prevent leprosy from getting worse and spreading to other people. While the infection is curable, nerve and tissue damage that occurred before treatment is generally permanent.\n\nPaucibacillary leprosy typically involves a small number of surface lesions on the skin. There is generally loss of sensation in these areas, but the other signs and symptoms that occur in multibacillary leprosy are less likely to develop in this form of the disorder.\n\nMultibacillary leprosy usually involves a large number of cutaneous lesions, including both surface damage and lumps under the skin (nodules). The moist tissues that line body openings such as the eyelids and the inside of the nose and mouth (mucous membranes) can also be affected, which can lead to vision loss, destruction of nasal tissue, or impaired speech. Some affected individuals have damage to internal organs and tissues. The nerve damage that occurs in multibacillary leprosy often results in a lack of sensation in the hands and feet. Repeated injuries that go unnoticed and untreated because of this lack of sensation can lead to reabsorption of affected fingers or toes by the body, resulting in the shortening or loss of these digits.\n\nLeprosy affects the skin and the peripheral nerves, which connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, and heat. Most affected individuals have areas of skin damage (cutaneous lesions) and problems with nerve function (peripheral neuropathy); however, the severity and extent of the problems vary widely. Leprosy occurs on a spectrum, in which the most severe form is called multibacillary or lepromatous, and the least severe form is called paucibacillary or tuberculoid. Patterns of signs and symptoms intermediate between these forms are sometimes called borderline forms.\n\nLeprosy, also called Hansen disease, is a disorder known since ancient times. It is caused by bacteria called Mycobacterium leprae and is contagious, which means that it can be passed from person to person. It is usually contracted by breathing airborne droplets from affected individuals' coughs and sneezes, or by coming into contact with their nasal fluids. However, it is not highly transmissible, and approximately 95 percent of individuals who are exposed to Mycobacterium leprae never develop leprosy. The infection can be contracted at any age, and signs and symptoms can take anywhere from several months to 20 years to appear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/368500">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_382634"><div><strong>Familial acute necrotizing encephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382634</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.">C2675556</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acute necrotizing encephalopathy type 1, also known as susceptibility to infection-induced acute encephalopathy 3 or IIAE3, is a rare type of brain disease (encephalopathy) that occurs following a viral infection such as the flu.\n\nAcute necrotizing encephalopathy type 1 typically appears in infancy or early childhood, although some people do not develop the condition until adolescence or adulthood. People with this condition usually show typical symptoms of an infection, such as fever, cough, congestion, vomiting, and diarrhea, for a few days. Following these flu-like symptoms, affected individuals develop neurological problems, such as seizures, hallucinations, difficulty coordinating movements (ataxia), or abnormal muscle tone. Eventually, most affected individuals go into a coma, which usually lasts for a number of weeks. The condition is described as "acute" because the episodes of illness are time-limited.\n\nPeople with acute necrotizing encephalopathy type 1 develop areas of damage (lesions) in certain regions of the brain. As the condition progresses, these brain regions develop swelling (edema), bleeding (hemorrhage), and then tissue death (necrosis). The progressive brain damage and tissue loss results in encephalopathy.\n\nApproximately one-third of individuals with acute necrotizing encephalopathy type 1 do not survive their illness and subsequent neurological decline. Of those who do survive, about half have permanent brain damage due to tissue necrosis, resulting in impairments in walking, speech, and other basic functions. Over time, many of these skills may be regained, but the loss of brain tissue is permanent. Other individuals who survive their illness appear to recover completely.\n\nIt is estimated that half of individuals with acute necrotizing encephalopathy type 1 are susceptible to recurrent episodes and will have another infection that results in neurological decline; some people may have numerous episodes throughout their lives. Neurological function worsens following each episode as more brain tissue is damaged.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382634">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_479932"><div><strong>Allergic bronchopulmonary aspergillosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>479932</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.">C3278302</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare immunologic pulmonary disorder caused by hypersensitivity to <i>Aspergillus fumigatus</i>, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/479932">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_479932" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Allergic bronchopulmonary aspergillosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338806" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Echo virus 11 sensitivity</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382634" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial acute necrotizing encephalopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_330741" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Globulin anomaly involving beta (2A)-globulin</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6915" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary insensitivity to pain with anhidrosis</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (16)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326692" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immune suppression</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344569" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunoglobulin d level in plasma, low</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344562" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inosine phosphorylase deficiency, immune defect due to</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_368500" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leprosy, susceptibility to, 3</a></div>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myeloperoxidase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333311" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Radiation sensitivity of natural killer activity</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_64430" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Roussy-Lévy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_164212" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">SHORT syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smith-Magenis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332086" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Systemic lupus erythematosus, susceptibility to, 6</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/33092426">Tumor Necrosis Factor-alpha (TNF-α) -238 G/A Polymorphism Is Associated with the Treatment Resistance and Attempted Suicide in Schizophrenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aytac HM,
|
||
Ozdilli K,
|
||
Tuncel FC,
|
||
Pehlivan M,
|
||
Pehlivan S</span><br />
|
||
<span class="medgenPMjournal">Immunol Invest</span>
|
||
2022 Feb;51(2):368-380.
|
||
Epub 2020 Oct 22
|
||
doi: 10.1080/08820139.2020.1832115.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33092426" target="_blank">33092426</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22abnormality%20of%20the%20immune%20system%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 (1)</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/38228406">Primary and secondary defects of the thymus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dinges SS,
|
||
Amini K,
|
||
Notarangelo LD,
|
||
Delmonte OM</span><br />
|
||
<span class="medgenPMjournal">Immunol Rev</span>
|
||
2024 Mar;322(1):178-211.
|
||
Epub 2024 Jan 16
|
||
doi: 10.1111/imr.13306.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38228406" target="_blank">38228406</a><a href="/pmc/articles/PMC10950553" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34118406">Pregnancy and viral infections: Mechanisms of fetal damage, diagnosis and prevention of neonatal adverse outcomes from cytomegalovirus to SARS-CoV-2 and Zika virus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Auriti C,
|
||
De Rose DU,
|
||
Santisi A,
|
||
Martini L,
|
||
Piersigilli F,
|
||
Bersani I,
|
||
Ronchetti MP,
|
||
Caforio L</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta Mol Basis Dis</span>
|
||
2021 Oct 1;1867(10):166198.
|
||
Epub 2021 Jun 10
|
||
doi: 10.1016/j.bbadis.2021.166198.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34118406" target="_blank">34118406</a><a href="/pmc/articles/PMC8883330" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29214588">Immunological Rare Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baldovino S,
|
||
Menegatti E,
|
||
Roccatello D,
|
||
Sciascia S</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2017;1031:497-509.
|
||
doi: 10.1007/978-3-319-67144-4_26.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29214588" target="_blank">29214588</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22990615">Side effects of long-term glutamine supplementation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holecek M</span><br />
|
||
<span class="medgenPMjournal">JPEN J Parenter Enteral Nutr</span>
|
||
2013 Sep;37(5):607-16.
|
||
Epub 2012 Sep 18
|
||
doi: 10.1177/0148607112460682.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22990615" target="_blank">22990615</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18349599">Vascular malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arneja JS,
|
||
Gosain AK</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
2008 Apr;121(4):195e-206e.
|
||
doi: 10.1097/01.prs.0000304607.29622.3c.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18349599" target="_blank">18349599</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20immune%20system%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 (11170)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34118406">Pregnancy and viral infections: Mechanisms of fetal damage, diagnosis and prevention of neonatal adverse outcomes from cytomegalovirus to SARS-CoV-2 and Zika virus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Auriti C,
|
||
De Rose DU,
|
||
Santisi A,
|
||
Martini L,
|
||
Piersigilli F,
|
||
Bersani I,
|
||
Ronchetti MP,
|
||
Caforio L</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta Mol Basis Dis</span>
|
||
2021 Oct 1;1867(10):166198.
|
||
Epub 2021 Jun 10
|
||
doi: 10.1016/j.bbadis.2021.166198.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34118406" target="_blank">34118406</a><a href="/pmc/articles/PMC8883330" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29159871">Immunodeficiency in CHARGE syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mehr S,
|
||
Hsu P,
|
||
Campbell D</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2017 Dec;175(4):516-523.
|
||
Epub 2017 Nov 21
|
||
doi: 10.1002/ajmg.c.31594.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29159871" target="_blank">29159871</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27514587">Plastic Bronchitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rubin BK</span><br />
|
||
<span class="medgenPMjournal">Clin Chest Med</span>
|
||
2016 Sep;37(3):405-8.
|
||
Epub 2016 Jun 15
|
||
doi: 10.1016/j.ccm.2016.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27514587" target="_blank">27514587</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12218787">CATCH 22 Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yonehara Y,
|
||
Nakatsuka T,
|
||
Ichioka S,
|
||
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<div class="nl"><a target="_blank" href="/pubmed/33407739">NK cell-based cancer immunotherapy: from basic biology to clinical development.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27346637">Biliary atresia: A comprehensive review.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34118406">Pregnancy and viral infections: Mechanisms of fetal damage, diagnosis and prevention of neonatal adverse outcomes from cytomegalovirus to SARS-CoV-2 and Zika virus.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Auriti C,
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De Rose DU,
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Santisi A,
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<div class="nl"><a target="_blank" href="/pubmed/27526622">The Combined Usefulness of the Neutrophil-to-Lymphocyte and Platelet-to-Lymphocyte Ratios in Predicting Intravenous Immunoglobulin Resistance with Kawasaki Disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chatterjee T,
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Choudhry VP</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/23912822" target="_blank">23912822</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20immune%20system%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 (10183)</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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<div class="nl"><a target="_blank" href="/pubmed/37094824">Fecal transplantation for treatment of inflammatory bowel disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Imdad A,
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Pandit NG,
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Zaman M,
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Minkoff NZ,
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Tanner-Smith EE,
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Gomez-Duarte OG,
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Acra S,
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Nicholson MR</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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<span class="bold">PMID: </span><a href="/pubmed/37094824" target="_blank">37094824</a><a href="/pmc/articles/PMC10133790" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31260048">The association between endometriosis and autoimmune diseases: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Shigesi N,
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Kvaskoff M,
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Kirtley S,
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Feng Q,
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Fang H,
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Knight JC,
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Missmer SA,
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Rahmioglu N,
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Zondervan KT,
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<span class="medgenPMjournal">Hum Reprod Update</span>
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<span class="bold">PMID: </span><a href="/pubmed/31260048" target="_blank">31260048</a><a href="/pmc/articles/PMC6601386" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29153763">Prevalence of adenoid hypertrophy: A systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pereira L,
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Monyror J,
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Almeida FT,
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Almeida FR,
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Guerra E,
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Flores-Mir C,
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Pachêco-Pereira C</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/29153763" target="_blank">29153763</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28063304">Splenic irradiation for splenomegaly: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zaorsky NG,
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Williams GR,
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Barta SK,
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Esnaola NF,
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Kropf PL,
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Meyer JE</span><br />
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<span class="medgenPMjournal">Cancer Treat Rev</span>
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Epub 2016 Dec 22
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<span class="bold">PMID: </span><a href="/pubmed/28063304" target="_blank">28063304</a><a href="/pmc/articles/PMC7537354" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/27846819">Clinical features, treatment and outcome in neurosarcoidosis: systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fritz D,
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van de Beek D,
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<span class="bold">PMID: </span><a href="/pubmed/27846819" target="_blank">27846819</a><a href="/pmc/articles/PMC5109654" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20immune%20system%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 (123)</a></div></div>
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4021753%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
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<li><a href="/gtr/tests?term=C4021753%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4021753%5bDISCUI%5d" target="_blank">See all (4)</a></total></li>
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