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<meta name="keywords" content="C5193072, bach2, brida, disease or syndrome, imd60, immunodeficiency 60, immunodeficiency 60 and autoimmunity, immunodeficiency and autoimmunity, bach2-related, 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-60 and autoimmunity (IMD60) is an autosomal dominant primary immunologic disorder characterized by inflammatory bowel disease and recurrent sinopulmonary infections. The age at symptom onset is highly variable, ranging from infancy to mid-adulthood. Laboratory studies show dysregulation of both B and T cells, with variably decreased immunoglobulin production, decreased T-regulatory cells, and overall impaired lymphocyte maturation (summary by Afzali et al., 2017)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1681890
|
||
ConceptID=C5193072
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Immunodeficiency 60<span class="h1sub">(BRIDA; IMD60)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1681890</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:">C5193072</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>IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMMUNODEFICIENCY AND AUTOIMMUNITY, BACH2-RELATED</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="BACH2 - ID: 60468 - NCBI Gene" href="/gene/60468" class="medgenPMinfo">BACH2</a> (6q15)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0032723" target="_blank">MONDO:0032723</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618394" target="_blank">618394</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>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Immunodeficiency-60 and autoimmunity (IMD60) is an autosomal dominant primary immunologic disorder characterized by inflammatory bowel disease and recurrent sinopulmonary infections. The age at symptom onset is highly variable, ranging from infancy to mid-adulthood. Laboratory studies show dysregulation of both B and T cells, with variably decreased immunoglobulin production, decreased T-regulatory cells, and overall impaired lymphocyte maturation (summary by Afzali et al., 2017). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_102">
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<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_40385"><div><strong>Colitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40385</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.">C0009319</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ulcerative colitis is a chronic disorder that affects the digestive system. This condition is characterized by abnormal inflammation of the inner surface (epithelium) of the rectum and colon. The rectum and colon make up most of the length of the large intestine. The inflammation usually causes open sores (ulcers) to develop in the large intestine. Ulcerative colitis usually appears between the age of 15 and 30, although it can develop at any age. The inflammation tends to flare up multiple times throughout a person's life, which causes recurring signs and symptoms.\n\nThe most common symptoms of ulcerative colitis are cramping abdominal pain and frequent diarrhea, often with blood, pus, or mucus in the stool. Other signs and symptoms include nausea, loss of appetite, bowel urgency, fatigue, and fevers. Chronic bleeding from the inflamed and ulcerated intestinal tissue can cause a shortage of red blood cells (anemia) in some affected individuals. People with this disorder have difficulty absorbing enough fluids and nutrients from their diet and often experience weight loss. Affected children usually grow more slowly than normal. Less commonly, ulcerative colitis causes problems with the skin, joints, eyes, kidneys, or liver, which are most likely due to abnormal inflammation.\n\nToxic megacolon is a rare complication of ulcerative colitis that can be life-threatening. Toxic megacolon involves a widening (dilation) of the colon and an overwhelming inflammatory response. Ulcerative colitis also increases the risk of developing colon cancer, especially in people whose entire colon is inflamed and in those who have had ulcerative colitis for 8 years or more.\n\nUlcerative colitis is one common form of inflammatory bowel disease (IBD). Another type of IBD, Crohn's disease, also causes chronic inflammation of the intestines. Unlike ulcerative colitis, which affects only the inner surface of the large intestine, Crohn's disease can cause inflammation in any part of the digestive system, and the inflammation extends deeper into the intestinal tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/40385">Feature record</a> | <a href="/medgen?term=%22Colitis%22%5BClinical%20Features%5D%20OR%2040385%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3532"><div><strong>Ulcerative colitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3532</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.">C0009324</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3532">Feature record</a> | <a href="/medgen?term=%22Ulcerative%20colitis%22%5BClinical%20Features%5D%20OR%203532%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3664"><div><strong>Crohn disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3664</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.">C0010346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3664">Feature record</a> | <a href="/medgen?term=%22Crohn%20disease%22%5BClinical%20Features%5D%20OR%203664%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_18281"><div><strong>Pancytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18281</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.">C0030312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18281">Feature record</a> | <a href="/medgen?term=%22Pancytopenia%22%5BClinical%20Features%5D%20OR%2018281%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14234"><div><strong>Bronchiectasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14234</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.">C0006267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14234">Feature record</a> | <a href="/medgen?term=%22Bronchiectasis%22%5BClinical%20Features%5D%20OR%2014234%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_116009"><div><strong>Pulmonary infiltrates</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116009</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.">C0235896</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116009">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20infiltrates%22%5BClinical%20Features%5D%20OR%20116009%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339549"><div><strong>Recurrent sinopulmonary infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339549</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.">C1846546</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339549">Feature record</a> | <a href="/medgen?term=%22Recurrent%20sinopulmonary%20infections%22%5BClinical%20Features%5D%20OR%20339549%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</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.">C0038002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%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_1630957"><div><strong>Decreased basophil count</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1630957</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.">C0855987</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally reduced count of basophils per volume in the blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1630957">Feature record</a> | <a href="/medgen?term=%22Decreased%20basophil%20count%22%5BClinical%20Features%5D%20OR%201630957%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_1696202"><div><strong>Perinuclear antineutrophil antibody positivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1696202</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.">C5139209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Laboratory or Test Result</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Perinuclear%20antineutrophil%20antibody%20positivity%22%5BClinical%20Features%5D%20OR%201696202%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_5169"><div><strong>Fever</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5169</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.">C0015967</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Body temperature elevated above the normal range.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5169">Feature record</a> | <a href="/medgen?term=%22Fever%22%5BClinical%20Features%5D%20OR%205169%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 blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18281" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancytopenia</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fever</a></span></li></ul></li><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_40385" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Colitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3664" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Crohn disease</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ulcerative colitis</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_1630957" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased basophil count</a></span></li><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_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_1696202" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perinuclear antineutrophil antibody positivity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</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_14234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bronchiectasis</a></span></li><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_116009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary infiltrates</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339549" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent sinopulmonary infections</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/38767403">Plasmablastic lymphoma: 2024 update on diagnosis, risk stratification, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramirez-Gamero A,
|
||
Martínez-Cordero H,
|
||
Beltrán BE,
|
||
Florindez J,
|
||
Malpica L,
|
||
Castillo JJ</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2024 Aug;99(8):1586-1594.
|
||
Epub 2024 May 20
|
||
doi: 10.1002/ajh.27376.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38767403" target="_blank">38767403</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27577878">Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stray-Pedersen A,
|
||
Sorte HS,
|
||
Samarakoon P,
|
||
Gambin T,
|
||
Chinn IK,
|
||
Coban Akdemir ZH,
|
||
Erichsen HC,
|
||
Forbes LR,
|
||
Gu S,
|
||
Yuan B,
|
||
Jhangiani SN,
|
||
Muzny DM,
|
||
Rødningen OK,
|
||
Sheng Y,
|
||
Nicholas SK,
|
||
Noroski LM,
|
||
Seeborg FO,
|
||
Davis CM,
|
||
Canter DL,
|
||
Mace EM,
|
||
Vece TJ,
|
||
Allen CE,
|
||
Abhyankar HA,
|
||
Boone PM,
|
||
Beck CR,
|
||
Wiszniewski W,
|
||
Fevang B,
|
||
Aukrust P,
|
||
Tjønnfjord GE,
|
||
Gedde-Dahl T,
|
||
Hjorth-Hansen H,
|
||
Dybedal I,
|
||
Nordøy I,
|
||
Jørgensen SF,
|
||
Abrahamsen TG,
|
||
Øverland T,
|
||
Bechensteen AG,
|
||
Skogen V,
|
||
Osnes LTN,
|
||
Kulseth MA,
|
||
Prescott TE,
|
||
Rustad CF,
|
||
Heimdal KR,
|
||
Belmont JW,
|
||
Rider NL,
|
||
Chinen J,
|
||
Cao TN,
|
||
Smith EA,
|
||
Caldirola MS,
|
||
Bezrodnik L,
|
||
Lugo Reyes SO,
|
||
Espinosa Rosales FJ,
|
||
Guerrero-Cursaru ND,
|
||
Pedroza LA,
|
||
Poli CM,
|
||
Franco JL,
|
||
Trujillo Vargas CM,
|
||
Aldave Becerra JC,
|
||
Wright N,
|
||
Issekutz TB,
|
||
Issekutz AC,
|
||
Abbott J,
|
||
Caldwell JW,
|
||
Bayer DK,
|
||
Chan AY,
|
||
Aiuti A,
|
||
Cancrini C,
|
||
Holmberg E,
|
||
West C,
|
||
Burstedt M,
|
||
Karaca E,
|
||
Yesil G,
|
||
Artac H,
|
||
Bayram Y,
|
||
Atik MM,
|
||
Eldomery MK,
|
||
Ehlayel MS,
|
||
Jolles S,
|
||
Flatø B,
|
||
Bertuch AA,
|
||
Hanson IC,
|
||
Zhang VW,
|
||
Wong LJ,
|
||
Hu J,
|
||
Walkiewicz M,
|
||
Yang Y,
|
||
Eng CM,
|
||
Boerwinkle E,
|
||
Gibbs RA,
|
||
Shearer WT,
|
||
Lyle R,
|
||
Orange JS,
|
||
Lupski JR</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2017 Jan;139(1):232-245.
|
||
Epub 2016 Jul 16
|
||
doi: 10.1016/j.jaci.2016.05.042.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27577878" target="_blank">27577878</a><a href="/pmc/articles/PMC5222743" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23978714">Non-cirrhotic portal hypertension - diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khanna R,
|
||
Sarin SK</span><br />
|
||
<span class="medgenPMjournal">J Hepatol</span>
|
||
2014 Feb;60(2):421-41.
|
||
Epub 2013 Aug 23
|
||
doi: 10.1016/j.jhep.2013.08.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23978714" target="_blank">23978714</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(immunodeficiency%2060)%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 (1276)</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/36413338">Spectrum and mortality of opportunistic infections among HIV/AIDS patients in southwestern China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meng S,
|
||
Tang Q,
|
||
Xie Z,
|
||
Wu N,
|
||
Qin Y,
|
||
Chen R,
|
||
Chen X,
|
||
Chen X,
|
||
Li Y,
|
||
Shi M,
|
||
Ye L,
|
||
Liang H,
|
||
Jiang J,
|
||
Zhou B,
|
||
Lin J</span><br />
|
||
<span class="medgenPMjournal">Eur J Clin Microbiol Infect Dis</span>
|
||
2023 Jan;42(1):113-120.
|
||
Epub 2022 Nov 21
|
||
doi: 10.1007/s10096-022-04528-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36413338" target="_blank">36413338</a><a href="/pmc/articles/PMC9816182" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36110980">Study on the Mental Health Service Behavior of Medical Staff Based on Electrocardiogram.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qin W,
|
||
Xia Y,
|
||
Li X,
|
||
Cheng M,
|
||
Yue L</span><br />
|
||
<span class="medgenPMjournal">Contrast Media Mol Imaging</span>
|
||
2022;2022:7580008.
|
||
Epub 2022 Aug 30
|
||
doi: 10.1155/2022/7580008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36110980" target="_blank">36110980</a><a href="/pmc/articles/PMC9448627" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35950061">Prevalence and Determinants of Opportunistic Infections in HIV Patients: A Cross-Sectional Study in the City of Semarang.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sutini,
|
||
Rahayu SR,
|
||
Saefurrohim MZ,
|
||
Al Ayubi MTA,
|
||
Wijayanti H,
|
||
Wandastuti AD,
|
||
Miarso D,
|
||
Susilastuti MS</span><br />
|
||
<span class="medgenPMjournal">Ethiop J Health Sci</span>
|
||
2022 Jul;32(4):809-816.
|
||
doi: 10.4314/ejhs.v32i4.18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35950061" target="_blank">35950061</a><a href="/pmc/articles/PMC9341011" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26454311">Common Variable Immunodeficiency: Diagnosis, Management, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abbott JK,
|
||
Gelfand EW</span><br />
|
||
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
|
||
2015 Nov;35(4):637-58.
|
||
Epub 2015 Sep 4
|
||
doi: 10.1016/j.iac.2015.07.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26454311" target="_blank">26454311</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8500775">HIV infection in older patients: when to suspect the unexpected.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wallace JI,
|
||
Paauw DS,
|
||
Spach DH</span><br />
|
||
<span class="medgenPMjournal">Geriatrics</span>
|
||
1993 Jun;48(6):61-4, 69-70.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8500775" target="_blank">8500775</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2060%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 (10994)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35442074">The Brief Case: Sister Fungi in a Patient with AIDS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Misra A,
|
||
Roiko M,
|
||
Abu Saleh O,
|
||
Morris H,
|
||
Pritt BS</span><br />
|
||
<span class="medgenPMjournal">J Clin Microbiol</span>
|
||
2022 Apr 20;60(4):e0114421.
|
||
doi: 10.1128/jcm.01144-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35442074" target="_blank">35442074</a><a href="/pmc/articles/PMC9020360" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27889361">Adult Patients With Bronchiectasis: A First Look at the US Bronchiectasis Research Registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aksamit TR,
|
||
O'Donnell AE,
|
||
Barker A,
|
||
Olivier KN,
|
||
Winthrop KL,
|
||
Daniels MLA,
|
||
Johnson M,
|
||
Eden E,
|
||
Griffith D,
|
||
Knowles M,
|
||
Metersky M,
|
||
Salathe M,
|
||
Thomashow B,
|
||
Tino G,
|
||
Turino G,
|
||
Carretta B,
|
||
Daley CL;
|
||
Bronchiectasis Research Registry Consortium</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
2017 May;151(5):982-992.
|
||
Epub 2016 Nov 23
|
||
doi: 10.1016/j.chest.2016.10.055.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27889361" target="_blank">27889361</a><a href="/pmc/articles/PMC6026266" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27577878">Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stray-Pedersen A,
|
||
Sorte HS,
|
||
Samarakoon P,
|
||
Gambin T,
|
||
Chinn IK,
|
||
Coban Akdemir ZH,
|
||
Erichsen HC,
|
||
Forbes LR,
|
||
Gu S,
|
||
Yuan B,
|
||
Jhangiani SN,
|
||
Muzny DM,
|
||
Rødningen OK,
|
||
Sheng Y,
|
||
Nicholas SK,
|
||
Noroski LM,
|
||
Seeborg FO,
|
||
Davis CM,
|
||
Canter DL,
|
||
Mace EM,
|
||
Vece TJ,
|
||
Allen CE,
|
||
Abhyankar HA,
|
||
Boone PM,
|
||
Beck CR,
|
||
Wiszniewski W,
|
||
Fevang B,
|
||
Aukrust P,
|
||
Tjønnfjord GE,
|
||
Gedde-Dahl T,
|
||
Hjorth-Hansen H,
|
||
Dybedal I,
|
||
Nordøy I,
|
||
Jørgensen SF,
|
||
Abrahamsen TG,
|
||
Øverland T,
|
||
Bechensteen AG,
|
||
Skogen V,
|
||
Osnes LTN,
|
||
Kulseth MA,
|
||
Prescott TE,
|
||
Rustad CF,
|
||
Heimdal KR,
|
||
Belmont JW,
|
||
Rider NL,
|
||
Chinen J,
|
||
Cao TN,
|
||
Smith EA,
|
||
Caldirola MS,
|
||
Bezrodnik L,
|
||
Lugo Reyes SO,
|
||
Espinosa Rosales FJ,
|
||
Guerrero-Cursaru ND,
|
||
Pedroza LA,
|
||
Poli CM,
|
||
Franco JL,
|
||
Trujillo Vargas CM,
|
||
Aldave Becerra JC,
|
||
Wright N,
|
||
Issekutz TB,
|
||
Issekutz AC,
|
||
Abbott J,
|
||
Caldwell JW,
|
||
Bayer DK,
|
||
Chan AY,
|
||
Aiuti A,
|
||
Cancrini C,
|
||
Holmberg E,
|
||
West C,
|
||
Burstedt M,
|
||
Karaca E,
|
||
Yesil G,
|
||
Artac H,
|
||
Bayram Y,
|
||
Atik MM,
|
||
Eldomery MK,
|
||
Ehlayel MS,
|
||
Jolles S,
|
||
Flatø B,
|
||
Bertuch AA,
|
||
Hanson IC,
|
||
Zhang VW,
|
||
Wong LJ,
|
||
Hu J,
|
||
Walkiewicz M,
|
||
Yang Y,
|
||
Eng CM,
|
||
Boerwinkle E,
|
||
Gibbs RA,
|
||
Shearer WT,
|
||
Lyle R,
|
||
Orange JS,
|
||
Lupski JR</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2017 Jan;139(1):232-245.
|
||
Epub 2016 Jul 16
|
||
doi: 10.1016/j.jaci.2016.05.042.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27577878" target="_blank">27577878</a><a href="/pmc/articles/PMC5222743" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26454311">Common Variable Immunodeficiency: Diagnosis, Management, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abbott JK,
|
||
Gelfand EW</span><br />
|
||
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
|
||
2015 Nov;35(4):637-58.
|
||
Epub 2015 Sep 4
|
||
doi: 10.1016/j.iac.2015.07.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26454311" target="_blank">26454311</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26183854">Oral manifestations of HIV disease: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aškinytė D,
|
||
Matulionytė R,
|
||
Rimkevičius A</span><br />
|
||
<span class="medgenPMjournal">Stomatologija</span>
|
||
2015;17(1):21-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26183854" target="_blank">26183854</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2060%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 (5940)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22284355">RNA-based therapeutics: current progress and future prospects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burnett JC,
|
||
Rossi JJ</span><br />
|
||
<span class="medgenPMjournal">Chem Biol</span>
|
||
2012 Jan 27;19(1):60-71.
|
||
doi: 10.1016/j.chembiol.2011.12.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22284355" target="_blank">22284355</a><a href="/pmc/articles/PMC3269031" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15226124">Improving topical microbicide applicators for use in resource-poor settings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vail JG,
|
||
Cohen JA,
|
||
Kelly KL</span><br />
|
||
<span class="medgenPMjournal">Am J Public Health</span>
|
||
2004 Jul;94(7):1089-92.
|
||
doi: 10.2105/ajph.94.7.1089.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15226124" target="_blank">15226124</a><a href="/pmc/articles/PMC1448402" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10414646">My needlestick.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwartz R</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
1999 Jul;60(1):329-31.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10414646" target="_blank">10414646</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2404527">Intravenous immunoglobulin for secondary immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yap PL</span><br />
|
||
<span class="medgenPMjournal">Blut</span>
|
||
1990 Jan;60(1):8-14.
|
||
doi: 10.1007/BF01720196.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2404527" target="_blank">2404527</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/775210">Transfer factor: a potential agent for cancer therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">LoBuglio AF,
|
||
Neidhart JA</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
1976 May;60(3):585-90.
|
||
doi: 10.1016/s0025-7125(16)31899-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/775210" target="_blank">775210</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2060%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7248)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35411666">Loss to follow-up of patients in HIV care in Burundi: A retrospective cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nshimirimana C,
|
||
Ndayizeye A,
|
||
Smekens T,
|
||
Vuylsteke B</span><br />
|
||
<span class="medgenPMjournal">Trop Med Int Health</span>
|
||
2022 Jun;27(6):574-582.
|
||
Epub 2022 Apr 21
|
||
doi: 10.1111/tmi.13753.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35411666" target="_blank">35411666</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35085400">Burden of Kaposi sarcoma according to HIV status: A systematic review and global analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ibrahim Khalil A,
|
||
Franceschi S,
|
||
de Martel C,
|
||
Bray F,
|
||
Clifford GM</span><br />
|
||
<span class="medgenPMjournal">Int J Cancer</span>
|
||
2022 Jun 15;150(12):1948-1957.
|
||
Epub 2022 Feb 16
|
||
doi: 10.1002/ijc.33951.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35085400" target="_blank">35085400</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27577878">Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stray-Pedersen A,
|
||
Sorte HS,
|
||
Samarakoon P,
|
||
Gambin T,
|
||
Chinn IK,
|
||
Coban Akdemir ZH,
|
||
Erichsen HC,
|
||
Forbes LR,
|
||
Gu S,
|
||
Yuan B,
|
||
Jhangiani SN,
|
||
Muzny DM,
|
||
Rødningen OK,
|
||
Sheng Y,
|
||
Nicholas SK,
|
||
Noroski LM,
|
||
Seeborg FO,
|
||
Davis CM,
|
||
Canter DL,
|
||
Mace EM,
|
||
Vece TJ,
|
||
Allen CE,
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Shamsoddin E,
|
||
Sharew MM,
|
||
Sharifi-Rad J,
|
||
Shetty JK,
|
||
Shivakumar KM,
|
||
Shobeiri P,
|
||
Shorofi SA,
|
||
Shrestha S,
|
||
Siddappa Malleshappa SK,
|
||
Singh P,
|
||
Singh JA,
|
||
Singh G,
|
||
Sinha DN,
|
||
Solomon Y,
|
||
Suleman M,
|
||
Suliankatchi Abdulkader R,
|
||
Taheri Abkenar Y,
|
||
Talaat IM,
|
||
Tan KK,
|
||
Tbakhi A,
|
||
Thiyagarajan A,
|
||
Tiyuri A,
|
||
Tovani-Palone MR,
|
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Unnikrishnan B,
|
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Vo B,
|
||
Volovat SR,
|
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Wang C,
|
||
Westerman R,
|
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Wickramasinghe ND,
|
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Xiao H,
|
||
Yu C,
|
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Yuce D,
|
||
Yunusa I,
|
||
Zadnik V,
|
||
Zare I,
|
||
Zhang ZJ,
|
||
Zoladl M,
|
||
Force LM,
|
||
Hugo FN</span><br />
|
||
<span class="medgenPMjournal">JAMA Oncol</span>
|
||
2023 Oct 1;9(10):1401-1416.
|
||
doi: 10.1001/jamaoncol.2023.2960.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37676656" target="_blank">37676656</a><a href="/pmc/articles/PMC10485745" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31677266">Herpes Zoster Risk in Immunocompromised Adults in the United States: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McKay SL,
|
||
Guo A,
|
||
Pergam SA,
|
||
Dooling K</span><br />
|
||
<span class="medgenPMjournal">Clin Infect Dis</span>
|
||
2020 Oct 23;71(7):e125-e134.
|
||
doi: 10.1093/cid/ciz1090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31677266" target="_blank">31677266</a><a href="/pmc/articles/PMC7195255" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30054765">Mindfulness-Based Interventions for Adults Living with HIV/AIDS: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scott-Sheldon LAJ,
|
||
Balletto BL,
|
||
Donahue ML,
|
||
Feulner MM,
|
||
Cruess DG,
|
||
Salmoirago-Blotcher E,
|
||
Wing RR,
|
||
Carey MP</span><br />
|
||
<span class="medgenPMjournal">AIDS Behav</span>
|
||
2019 Jan;23(1):60-75.
|
||
doi: 10.1007/s10461-018-2236-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30054765" target="_blank">30054765</a><a href="/pmc/articles/PMC6344266" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29660820">Human immunodeficiency virus in patients with tuberculous meningitis: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pormohammad A,
|
||
Nasiri MJ,
|
||
Riahi SM,
|
||
Fallah F</span><br />
|
||
<span class="medgenPMjournal">Trop Med Int Health</span>
|
||
2018 Jun;23(6):589-595.
|
||
Epub 2018 May 21
|
||
doi: 10.1111/tmi.13059.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29660820" target="_blank">29660820</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22348417">Candidiasis (oropharyngeal).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pankhurst CL</span><br />
|
||
<span class="medgenPMjournal">BMJ Clin Evid</span>
|
||
2012 Feb 20;2012
|
||
<span class="bold">PMID: </span><a href="/pubmed/22348417" target="_blank">22348417</a><a href="/pmc/articles/PMC4429411" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2060%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 (342)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5193072%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C5193072%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5193072%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=618394" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Immunodeficiency%2060" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(immunodeficiency%2060)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Immunodeficiency%2060%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=605394" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=60468[geneid]" target="_blank">View BACH2 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=618394" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/immunodeficiency_60_and_autoimmunity" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Immunodeficiency%2060" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Immunodeficiency%2060" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Immunodeficiency%2060%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1681890" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1681890" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5193072[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5193072[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1681890" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1681890" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1681890" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1681890" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1681890" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb5447b15b832ebc1131d5">Immunodeficiency 60</a>
|
||
<div class="ralinkpop offscreen_noflow">Immunodeficiency 60<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cb5444a68b6b5afc7f359d">C5193072[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb544384f3725e5942dd41">C4310803[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(209)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">C4310803[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
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