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<meta name="keywords" content="C5561976, disease or syndrome, imd85, immunodeficiency 85 and autoimmunity, tom1, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Immunodeficiency-85 and autoimmunity (IMD85) is an autosomal dominant immunologic disorder characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life. Affected individuals also develop autoimmune enteropathy with vomiting, diarrhea, and poor overall growth. More variable features may include autoimmune oligoarthritis, interstitial pneumonitis, and EBV viremia. Laboratory studies show hypogammaglobulinemia and abnormal T-cell function, consistent with a combined immunodeficiency (Keskitalo et al., 2019)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1794186
|
||
ConceptID=C5561976
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Immunodeficiency 85 and autoimmunity<span class="h1sub">(IMD85)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794186</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C5561976</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>IMD85; IMMUNODEFICIENCY 85 AND AUTOIMMUNITY</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="TOM1 - ID: 10043 - NCBI Gene" href="/gene/10043" class="medgenPMinfo">TOM1</a> (22q12.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0030428" target="_blank">MONDO:0030428</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619510" target="_blank">619510</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Immunodeficiency-85 and autoimmunity (IMD85) is an autosomal dominant immunologic disorder characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life. Affected individuals also develop autoimmune enteropathy with vomiting, diarrhea, and poor overall growth. More variable features may include autoimmune oligoarthritis, interstitial pneumonitis, and EBV viremia. Laboratory studies show hypogammaglobulinemia and abnormal T-cell function, consistent with a combined immunodeficiency (Keskitalo et al., 2019). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_99124"><div><strong>Growth delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99124</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.">C0456070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deficiency or slowing down of growth pre- and postnatally.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99124">Feature record</a> | <a href="/medgen?term=%22Growth%20delay%22%5BClinical%20Features%5D%20OR%2099124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_358083"><div><strong>Failure to thrive in infancy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358083</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.">C1867873</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358083">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%20in%20infancy%22%5BClinical%20Features%5D%20OR%20358083%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8641"><div><strong>Tube feeding</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8641</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.">C0014327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Therapeutic or Preventive Procedure</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Feeding problem necessitating food and nutrient delivery via a tube.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Tube%20feeding%22%5BClinical%20Features%5D%20OR%208641%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_12124"><div><strong>Vomiting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12124</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.">C0042963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/12124">Feature record</a> | <a href="/medgen?term=%22Vomiting%22%5BClinical%20Features%5D%20OR%2012124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96036"><div><strong>Chronic diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96036</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0401151</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96036">Feature record</a> | <a href="/medgen?term=%22Chronic%20diarrhea%22%5BClinical%20Features%5D%20OR%2096036%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_154306"><div><strong>Villous atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154306</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.">C0554101</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The enteric villi are atrophic or absent.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154306">Feature record</a> | <a href="/medgen?term=%22Villous%20atrophy%22%5BClinical%20Features%5D%20OR%20154306%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_856143"><div><strong>Oligoarthritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>856143</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.">C3892044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of arthritis that affects up to four joints in the first six months of disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/856143">Feature record</a> | <a href="/medgen?term=%22Oligoarthritis%22%5BClinical%20Features%5D%20OR%20856143%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11028"><div><strong>Pulmonary fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11028</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.">C0034069</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Replacement of normal lung tissues by fibroblasts and collagen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11028">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20fibrosis%22%5BClinical%20Features%5D%20OR%2011028%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_812812"><div><strong>Recurrent respiratory infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812812</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3806482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/812812">Feature record</a> | <a href="/medgen?term=%22Recurrent%20respiratory%20infections%22%5BClinical%20Features%5D%20OR%20812812%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3767"><div><strong>Erythroderma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3767</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.">C0011606</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3767">Feature record</a> | <a href="/medgen?term=%22Erythroderma%22%5BClinical%20Features%5D%20OR%203767%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3968"><div><strong>Eczematoid dermatitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3968</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.">C0013595</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3968">Feature record</a> | <a href="/medgen?term=%22Eczematoid%20dermatitis%22%5BClinical%20Features%5D%20OR%203968%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7418"><div><strong>Lymphopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7418</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.">C0024312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced number of lymphocytes in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7418">Feature record</a> | <a href="/medgen?term=%22Lymphopenia%22%5BClinical%20Features%5D%20OR%207418%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57934"><div><strong>Decreased circulating IgA concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57934</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0162538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased levels of immunoglobulin A (IgA).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57934">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20IgA%20concentration%22%5BClinical%20Features%5D%20OR%2057934%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116095"><div><strong>Decreased circulating total IgM</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116095</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0239989</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased level of immunoglobulin M (IgM) in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116095">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20total%20IgM%22%5BClinical%20Features%5D%20OR%20116095%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1714318"><div><strong>Decreased circulating IgE concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1714318</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.">C0853668</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased level of immunoglobulin E (IgE) in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1714318">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20IgE%20concentration%22%5BClinical%20Features%5D%20OR%201714318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383765"><div><strong>Reduced natural killer cell count</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383765</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.">C1855767</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383765">Feature record</a> | <a href="/medgen?term=%22Reduced%20natural%20killer%20cell%20count%22%5BClinical%20Features%5D%20OR%20383765%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_419385"><div><strong>T lymphocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419385</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.">C2931322</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally low count of T cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419385">Feature record</a> | <a href="/medgen?term=%22T%20lymphocytopenia%22%5BClinical%20Features%5D%20OR%20419385%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_767466"><div><strong>Persistent EBV viremia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767466</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.">C3554552</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent presence of Epstein-Barr virus in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767466">Feature record</a> | <a href="/medgen?term=%22Persistent%20EBV%20viremia%22%5BClinical%20Features%5D%20OR%20767466%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_893145"><div><strong>Decreased proportion of memory B cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>893145</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.">C4072913</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/893145">Feature record</a> | <a href="/medgen?term=%22Decreased%20proportion%20of%20memory%20B%20cells%22%5BClinical%20Features%5D%20OR%20893145%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1720114"><div><strong>Decreased circulating IgG concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1720114</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5234937</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased level of immunoglobulin G (IgG) in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1720114">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20IgG%20concentration%22%5BClinical%20Features%5D%20OR%201720114%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1719772"><div><strong>Decreased proportion of CD4-positive helper T cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1719772</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.">C5235140</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1719772">Feature record</a> | <a href="/medgen?term=%22Decreased%20proportion%20of%20CD4-positive%20helper%20T%20cells%22%5BClinical%20Features%5D%20OR%201719772%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96036" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic diarrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8641" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tube feeding</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154306" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Villous atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vomiting</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57934" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating IgA concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1714318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating IgE concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1720114" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating IgG concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116095" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating total IgM</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1719772" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased proportion of CD4-positive helper T cells</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_893145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased proportion of memory B cells</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eczematoid dermatitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3767" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Erythroderma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7418" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphopenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_767466" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Persistent EBV viremia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383765" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced natural killer cell count</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_419385" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">T lymphocytopenia</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_856143" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oligoarthritis</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11028" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary fibrosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_812812" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent respiratory infections</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_358083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive in infancy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth delay</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36566372">Diagnosis and screening for anal intraepithelial neoplasia in Belgium: position statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roelandt P,
|
||
De Looze D,
|
||
De Schepper H,
|
||
Ledouble V,
|
||
Surmont M,
|
||
Cuming T</span><br />
|
||
<span class="medgenPMjournal">Acta Gastroenterol Belg</span>
|
||
2022 Oct-Dec;85(4):625-631.
|
||
doi: 10.51821/85.4.10820.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36566372" target="_blank">36566372</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27862144">Approach to the Management of Autoimmunity in Primary Immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Azizi G,
|
||
Ziaee V,
|
||
Tavakol M,
|
||
Alinia T,
|
||
Yazdai R,
|
||
Mohammadi H,
|
||
Abolhassani H,
|
||
Aghamohammadi A</span><br />
|
||
<span class="medgenPMjournal">Scand J Immunol</span>
|
||
2017 Jan;85(1):13-29.
|
||
doi: 10.1111/sji.12506.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27862144" target="_blank">27862144</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27763681">Selective IgA Deficiency: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yazdani R,
|
||
Azizi G,
|
||
Abolhassani H,
|
||
Aghamohammadi A</span><br />
|
||
<span class="medgenPMjournal">Scand J Immunol</span>
|
||
2017 Jan;85(1):3-12.
|
||
doi: 10.1111/sji.12499.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27763681" target="_blank">27763681</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(immunodeficiency%2085%20and%20autoimmunity)%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 (14)</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/38554594">Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vitale A,
|
||
Caggiano V,
|
||
Martin-Nares E,
|
||
Frassi M,
|
||
Dagna L,
|
||
Hissaria P,
|
||
Sfriso P,
|
||
Hernández-Rodríguez J,
|
||
Ruiz-Irastorza G,
|
||
Monti S,
|
||
Tufan A,
|
||
Piga M,
|
||
Giardini HAM,
|
||
Lopalco G,
|
||
Viapiana O,
|
||
De Paulis A,
|
||
Triggianese P,
|
||
Vitetta R,
|
||
de-la-Torre A,
|
||
Fonollosa A,
|
||
Caroni F,
|
||
Sota J,
|
||
Conticini E,
|
||
Sbalchiero J,
|
||
Renieri A,
|
||
Casamassima G,
|
||
Wiesik-Szewczyk E,
|
||
Yildirim D,
|
||
Hinojosa-Azaola A,
|
||
Crisafulli F,
|
||
Franceschini F,
|
||
Campochiaro C,
|
||
Tomelleri A,
|
||
Callisto A,
|
||
Beecher M,
|
||
Bindoli S,
|
||
Baggio C,
|
||
Gómez-Caverzaschi V,
|
||
Pelegrín L,
|
||
Soto-Peleteiro A,
|
||
Milanesi A,
|
||
Vasi I,
|
||
Cauli A,
|
||
Antonelli IPB,
|
||
Iannone F,
|
||
Bixio R,
|
||
Casa FD,
|
||
Mormile I,
|
||
Gurnari C,
|
||
Fiorenza A,
|
||
Mejia-Salgado G,
|
||
Kawakami-Campos PA,
|
||
Ragab G,
|
||
Ciccia F,
|
||
Ruscitti P,
|
||
Bocchia M,
|
||
Balistreri A,
|
||
Tosi GM,
|
||
Frediani B,
|
||
Cantarini L,
|
||
Fabiani C</span><br />
|
||
<span class="medgenPMjournal">Semin Arthritis Rheum</span>
|
||
2024 Jun;66:152430.
|
||
Epub 2024 Mar 18
|
||
doi: 10.1016/j.semarthrit.2024.152430.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38554594" target="_blank">38554594</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36528295">Alveolar echinococcosis in immunocompromised hosts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Autier B,
|
||
Gottstein B,
|
||
Millon L,
|
||
Ramharter M,
|
||
Gruener B,
|
||
Bresson-Hadni S,
|
||
Dion S,
|
||
Robert-Gangneux F</span><br />
|
||
<span class="medgenPMjournal">Clin Microbiol Infect</span>
|
||
2023 May;29(5):593-599.
|
||
Epub 2022 Dec 15
|
||
doi: 10.1016/j.cmi.2022.12.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36528295" target="_blank">36528295</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36566372">Diagnosis and screening for anal intraepithelial neoplasia in Belgium: position statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roelandt P,
|
||
De Looze D,
|
||
De Schepper H,
|
||
Ledouble V,
|
||
Surmont M,
|
||
Cuming T</span><br />
|
||
<span class="medgenPMjournal">Acta Gastroenterol Belg</span>
|
||
2022 Oct-Dec;85(4):625-631.
|
||
doi: 10.51821/85.4.10820.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36566372" target="_blank">36566372</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32621759">A meta-analysis of anal cancer incidence by risk group: Toward a unified anal cancer risk scale.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clifford GM,
|
||
Georges D,
|
||
Shiels MS,
|
||
Engels EA,
|
||
Albuquerque A,
|
||
Poynten IM,
|
||
de Pokomandy A,
|
||
Easson AM,
|
||
Stier EA</span><br />
|
||
<span class="medgenPMjournal">Int J Cancer</span>
|
||
2021 Jan 1;148(1):38-47.
|
||
Epub 2020 Jul 29
|
||
doi: 10.1002/ijc.33185.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32621759" target="_blank">32621759</a><a href="/pmc/articles/PMC7689909" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12924603">Treatment of autoimmune diseases in mice by a new method for allogeneic bone marrow transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ikehara S</span><br />
|
||
<span class="medgenPMjournal">Ther Apher Dial</span>
|
||
2003 Jun;7(3):292-7.
|
||
doi: 10.1046/j.1526-0968.2003.00060.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12924603" target="_blank">12924603</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2085%20and%20autoimmunity%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 (79)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38554594">Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vitale A,
|
||
Caggiano V,
|
||
Martin-Nares E,
|
||
Frassi M,
|
||
Dagna L,
|
||
Hissaria P,
|
||
Sfriso P,
|
||
Hernández-Rodríguez J,
|
||
Ruiz-Irastorza G,
|
||
Monti S,
|
||
Tufan A,
|
||
Piga M,
|
||
Giardini HAM,
|
||
Lopalco G,
|
||
Viapiana O,
|
||
De Paulis A,
|
||
Triggianese P,
|
||
Vitetta R,
|
||
de-la-Torre A,
|
||
Fonollosa A,
|
||
Caroni F,
|
||
Sota J,
|
||
Conticini E,
|
||
Sbalchiero J,
|
||
Renieri A,
|
||
Casamassima G,
|
||
Wiesik-Szewczyk E,
|
||
Yildirim D,
|
||
Hinojosa-Azaola A,
|
||
Crisafulli F,
|
||
Franceschini F,
|
||
Campochiaro C,
|
||
Tomelleri A,
|
||
Callisto A,
|
||
Beecher M,
|
||
Bindoli S,
|
||
Baggio C,
|
||
Gómez-Caverzaschi V,
|
||
Pelegrín L,
|
||
Soto-Peleteiro A,
|
||
Milanesi A,
|
||
Vasi I,
|
||
Cauli A,
|
||
Antonelli IPB,
|
||
Iannone F,
|
||
Bixio R,
|
||
Casa FD,
|
||
Mormile I,
|
||
Gurnari C,
|
||
Fiorenza A,
|
||
Mejia-Salgado G,
|
||
Kawakami-Campos PA,
|
||
Ragab G,
|
||
Ciccia F,
|
||
Ruscitti P,
|
||
Bocchia M,
|
||
Balistreri A,
|
||
Tosi GM,
|
||
Frediani B,
|
||
Cantarini L,
|
||
Fabiani C</span><br />
|
||
<span class="medgenPMjournal">Semin Arthritis Rheum</span>
|
||
2024 Jun;66:152430.
|
||
Epub 2024 Mar 18
|
||
doi: 10.1016/j.semarthrit.2024.152430.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38554594" target="_blank">38554594</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36528295">Alveolar echinococcosis in immunocompromised hosts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Autier B,
|
||
Gottstein B,
|
||
Millon L,
|
||
Ramharter M,
|
||
Gruener B,
|
||
Bresson-Hadni S,
|
||
Dion S,
|
||
Robert-Gangneux F</span><br />
|
||
<span class="medgenPMjournal">Clin Microbiol Infect</span>
|
||
2023 May;29(5):593-599.
|
||
Epub 2022 Dec 15
|
||
doi: 10.1016/j.cmi.2022.12.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36528295" target="_blank">36528295</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36566372">Diagnosis and screening for anal intraepithelial neoplasia in Belgium: position statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roelandt P,
|
||
De Looze D,
|
||
De Schepper H,
|
||
Ledouble V,
|
||
Surmont M,
|
||
Cuming T</span><br />
|
||
<span class="medgenPMjournal">Acta Gastroenterol Belg</span>
|
||
2022 Oct-Dec;85(4):625-631.
|
||
doi: 10.51821/85.4.10820.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36566372" target="_blank">36566372</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31111319">Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jamee M,
|
||
Moniri S,
|
||
Zaki-Dizaji M,
|
||
Olbrich P,
|
||
Yazdani R,
|
||
Jadidi-Niaragh F,
|
||
Aghamahdi F,
|
||
Abolhassani H,
|
||
Condliffe AM,
|
||
Aghamohammadi A,
|
||
Azizi G</span><br />
|
||
<span class="medgenPMjournal">Clin Rev Allergy Immunol</span>
|
||
2020 Dec;59(3):323-333.
|
||
doi: 10.1007/s12016-019-08738-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31111319" target="_blank">31111319</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27763681">Selective IgA Deficiency: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yazdani R,
|
||
Azizi G,
|
||
Abolhassani H,
|
||
Aghamohammadi A</span><br />
|
||
<span class="medgenPMjournal">Scand J Immunol</span>
|
||
2017 Jan;85(1):3-12.
|
||
doi: 10.1111/sji.12499.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27763681" target="_blank">27763681</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2085%20and%20autoimmunity%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (88)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38772678">Severe enterovirus infections in patients with immune-mediated inflammatory diseases receiving anti-CD20 monoclonal antibodies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martin de Frémont G,
|
||
Chabrolles H,
|
||
Mirand A,
|
||
L'Honneur AS,
|
||
Mélé N,
|
||
Dunogue B,
|
||
Boutboul D,
|
||
Farhat M,
|
||
Hachulla E,
|
||
Lazrek M,
|
||
Rieu V,
|
||
Mathian A,
|
||
Chaussade H,
|
||
Ruet A,
|
||
Burrel S,
|
||
Coury-Lucas F,
|
||
Schuffenecker I,
|
||
Lemaignen A,
|
||
Stefic K,
|
||
le Besnerais M,
|
||
Carrette M,
|
||
Mouthon L,
|
||
Avettand-Fenoel V,
|
||
Terrier B,
|
||
Hadjadj J</span><br />
|
||
<span class="medgenPMjournal">RMD Open</span>
|
||
2024 May 20;10(2)
|
||
doi: 10.1136/rmdopen-2023-004036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38772678" target="_blank">38772678</a><a href="/pmc/articles/PMC11328644" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38432067">Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bianchi C,
|
||
Margot H,
|
||
Fernandes H,
|
||
Pasquet M,
|
||
Priqueler L,
|
||
Roy-Peaud F,
|
||
Bauduer F,
|
||
Bayart S,
|
||
Garnier N,
|
||
Fain O,
|
||
Van Gils J,
|
||
Joly SB,
|
||
Rialland F,
|
||
Paillard C,
|
||
Deparis M,
|
||
Lambilliotte A,
|
||
Leblanc T,
|
||
Fahd M,
|
||
Leverger G,
|
||
Héritier S,
|
||
Geneviève D,
|
||
Rieux-Laucat F,
|
||
Picard C,
|
||
Neyraud C,
|
||
Aladjidi N</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2024 May;204(5):1899-1907.
|
||
Epub 2024 Mar 3
|
||
doi: 10.1111/bjh.19387.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38432067" target="_blank">38432067</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37487754">Clinical, Radiologic, and Immunologic Features of Patients With CTLA4 Deficiency With Neurologic Involvement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coustal C,
|
||
Goulabchand R,
|
||
Labauge P,
|
||
Guilpain P,
|
||
Carra-Dallière C,
|
||
Januel E,
|
||
Jeziorski E,
|
||
Salle V,
|
||
Viallard JF,
|
||
Boutboul D,
|
||
Fieschi C,
|
||
Gobert D,
|
||
Aladjidi N,
|
||
Rullier P,
|
||
Graveleau J,
|
||
Piel-Julian M,
|
||
Suarez F,
|
||
Neven B,
|
||
Mahlaoui N,
|
||
Ayrignac X</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Oct 10;101(15):e1560-e1566.
|
||
Epub 2023 Jul 24
|
||
doi: 10.1212/WNL.0000000000207609.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37487754" target="_blank">37487754</a><a href="/pmc/articles/PMC10585684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32621759">A meta-analysis of anal cancer incidence by risk group: Toward a unified anal cancer risk scale.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clifford GM,
|
||
Georges D,
|
||
Shiels MS,
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Engels EA,
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Albuquerque A,
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<div class="nl"><a target="_blank" href="/pubmed/12924603">Treatment of autoimmune diseases in mice by a new method for allogeneic bone marrow transplantation.</a></div>
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Engels EA,
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Stier EA</span><br />
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<div class="portlet_content ln"><span class="medgenPMauthor">Ikehara S</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2085%20and%20autoimmunity%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (42)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38657198">Comparative Study of Paraneoplastic and Nonparaneoplastic Autoimmune Encephalitis With GABA(B)R Antibodies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lamblin F,
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Kerstens J,
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Muñiz-Castrillo S,
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Vogrig A,
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Goncalves D,
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Rogemond V,
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Picard G,
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Villard M,
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Pinto AL,
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Van Coevorden-Hameete MH,
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De Bruijn MA,
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De Vries JM,
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Schreurs M,
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Tyvaert L,
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Hopes L,
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Aupy J,
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Marchal C,
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Psimaras D,
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Kremer L,
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Bourg V,
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Antoine JG,
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Wang A,
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Kahane P,
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Demeret S,
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Ahle G,
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Sempere VP,
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Timestit N,
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Nourredine M,
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Maureille A,
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Benaiteau M,
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Joubert B,
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Mignot E,
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Titulaer MJ,
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Honnorat J</span><br />
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<span class="medgenPMjournal">Neurol Neuroimmunol Neuroinflamm</span>
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2024 May;11(3):e200229.
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Epub 2024 Apr 24
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doi: 10.1212/NXI.0000000000200229.
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<span class="bold">PMID: </span><a href="/pubmed/38657198" target="_blank">38657198</a><a href="/pmc/articles/PMC11087025" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38554594">Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ludvigsson JF,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2085%20and%20autoimmunity%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 (42)</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/36252494">Immune checkpoint inhibitors plus chemotherapy versus chemotherapy alone as first-line therapy for advanced gastric and esophageal cancers: A systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Noori M,
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Mahjoubfar A,
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Azizi S,
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Fayyaz F,
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<span class="bold">PMID: </span><a href="/pubmed/36252494" target="_blank">36252494</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35151362">Immunogenicity of COVID-19 mRNA vaccines in immunocompromised patients: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mehrabi Nejad MM,
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Moosaie F,
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Dehghanbanadaki H,
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Haji Ghadery A,
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Shabani M,
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Tabary M,
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Aryannejad A,
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SeyedAlinaghi S,
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Rezaei N</span><br />
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2022 Feb 12;27(1):23.
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doi: 10.1186/s40001-022-00648-5.
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<span class="bold">PMID: </span><a href="/pubmed/35151362" target="_blank">35151362</a><a href="/pmc/articles/PMC8840778" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34942515">Long non-coding RNAs (lncRNAs) as prognostic and diagnostic biomarkers in multiple myeloma: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mardani M,
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||
Rashedi S,
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Keykhaei M,
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Farrokhpour H,
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Azadnajafabad S,
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Tavolinejad H,
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Rezaei N</span><br />
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<span class="medgenPMjournal">Pathol Res Pract</span>
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2022 Jan;229:153726.
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Epub 2021 Nov 29
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||
<span class="bold">PMID: </span><a href="/pubmed/34942515" target="_blank">34942515</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33963613">Clinical, immunological, and genetic features in 780 patients with autoimmune lymphoproliferative syndrome (ALPS) and ALPS-like diseases: A systematic review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Hafezi N,
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Zaki-Dizaji M,
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Nirouei M,
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Asadi G,
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Sharifinejad N,
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Jamee M,
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Erfan Rasouli S,
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Hamedifar H,
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Sabzevari A,
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Chavoshzadeh Z,
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Yazdani R,
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Abolhassani H,
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||
Aghamohammadi A,
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||
Azizi G</span><br />
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||
<span class="medgenPMjournal">Pediatr Allergy Immunol</span>
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2021 Oct;32(7):1519-1532.
|
||
Epub 2021 May 27
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||
doi: 10.1111/pai.13535.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33963613" target="_blank">33963613</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31111319">Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jamee M,
|
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Moniri S,
|
||
Zaki-Dizaji M,
|
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Olbrich P,
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Yazdani R,
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Jadidi-Niaragh F,
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Aghamahdi F,
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Abolhassani H,
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Condliffe AM,
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Aghamohammadi A,
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Azizi G</span><br />
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<span class="medgenPMjournal">Clin Rev Allergy Immunol</span>
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||
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||
<span class="bold">PMID: </span><a href="/pubmed/31111319" target="_blank">31111319</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2085%20and%20autoimmunity%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(immunodeficiency%2085%20and%20autoimmunity)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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