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<meta name="keywords" content="C5677005, disease or syndrome, imd105, immunodeficiency 105, immunodeficiency 105, severe combined, ptprc, scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, 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-105 (IMD105) is an autosomal recessive disorder characterized by onset of recurrent infections in early infancy. Manifestations may include pneumonia, dermatitis, and lymphadenopathy. B-cell lymphoma was reported in 1 patient. Laboratory studies show decreased or absent numbers of nonfunctional T cells, normal or increased levels of B cells, hypogammaglobulinemia, and normal or low NK cells. The disorder is caused by a deficiency of transmembrane protein CD45 (PTPRC) on leukocytes, which plays an important role in T- and B-cell development (Cale et al., 1997; Kung et al., 2000). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive SCID, see 601457." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1809425
|
||
ConceptID=C5677005
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Immunodeficiency 105<span class="h1sub">(IMD105)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809425</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:">C5677005</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>IMD105; Immunodeficiency 105, severe combined</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="PTPRC - ID: 5788 - NCBI Gene" href="/gene/5788" class="medgenPMinfo">PTPRC</a> (1q31.3-32.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0800104" target="_blank">MONDO:0800104</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619924" target="_blank">619924</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-105 (IMD105) is an autosomal recessive disorder characterized by onset of recurrent infections in early infancy. Manifestations may include pneumonia, dermatitis, and lymphadenopathy. B-cell lymphoma was reported in 1 patient. Laboratory studies show decreased or absent numbers of nonfunctional T cells, normal or increased levels of B cells, hypogammaglobulinemia, and normal or low NK cells. The disorder is caused by a deficiency of transmembrane protein CD45 (PTPRC) on leukocytes, which plays an important role in T- and B-cell development (Cale et al., 1997; Kung et al., 2000). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive SCID, see 601457. [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_86953"><div><strong>B-cell lymphoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>86953</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.">C0079731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of lymphoma that originates in B-cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/86953">Feature record</a> | <a href="/medgen?term=%22B-cell%20lymphoma%22%5BClinical%20Features%5D%20OR%2086953%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9225"><div><strong>Hepatosplenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9225</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.">C0019214</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Simultaneous enlargement of the liver and spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9225">Feature record</a> | <a href="/medgen?term=%22Hepatosplenomegaly%22%5BClinical%20Features%5D%20OR%209225%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_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_376112"><div><strong>Absence of lymph node germinal center</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376112</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.">C1847383</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376112">Feature record</a> | <a href="/medgen?term=%22Absence%20of%20lymph%20node%20germinal%20center%22%5BClinical%20Features%5D%20OR%20376112%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340780"><div><strong>B lymphocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340780</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.">C1855067</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal decrease from the normal count of B cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340780">Feature record</a> | <a href="/medgen?term=%22B%20lymphocytopenia%22%5BClinical%20Features%5D%20OR%20340780%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_349067"><div><strong>Increased B cell count</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349067</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.">C1858972</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal increase from the normal count of B cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349067">Feature record</a> | <a href="/medgen?term=%22Increased%20B%20cell%20count%22%5BClinical%20Features%5D%20OR%20349067%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_871152"><div><strong>Impaired lymphocyte transformation with phytohemagglutinin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871152</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.">C4025625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871152">Feature record</a> | <a href="/medgen?term=%22Impaired%20lymphocyte%20transformation%20with%20phytohemagglutinin%22%5BClinical%20Features%5D%20OR%20871152%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892481"><div><strong>Decreased circulating antibody concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892481</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.">C4048270</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased level of immunoglobulin in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892481">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20antibody%20concentration%22%5BClinical%20Features%5D%20OR%20892481%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_1830322"><div><strong>Skin rash</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830322</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.">C5779628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A red eruption of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1830322">Feature record</a> | <a href="/medgen?term=%22Skin%20rash%22%5BClinical%20Features%5D%20OR%201830322%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_9225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatosplenomegaly</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_376112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absence of lymph node germinal center</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">B lymphocytopenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892481" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating antibody concentration</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_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_871152" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired lymphocyte transformation with phytohemagglutinin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_349067" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased B cell count</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_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_1830322" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skin rash</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">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_86953" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">B-cell lymphoma</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/32278790">Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lorenzini T,
|
||
Fliegauf M,
|
||
Klammer N,
|
||
Frede N,
|
||
Proietti M,
|
||
Bulashevska A,
|
||
Camacho-Ordonez N,
|
||
Varjosalo M,
|
||
Kinnunen M,
|
||
de Vries E,
|
||
van der Meer JWM,
|
||
Ameratunga R,
|
||
Roifman CM,
|
||
Schejter YD,
|
||
Kobbe R,
|
||
Hautala T,
|
||
Atschekzei F,
|
||
Schmidt RE,
|
||
Schröder C,
|
||
Stepensky P,
|
||
Shadur B,
|
||
Pedroza LA,
|
||
van der Flier M,
|
||
Martínez-Gallo M,
|
||
Gonzalez-Granado LI,
|
||
Allende LM,
|
||
Shcherbina A,
|
||
Kuzmenko N,
|
||
Zakharova V,
|
||
Neves JF,
|
||
Svec P,
|
||
Fischer U,
|
||
Ip W,
|
||
Bartsch O,
|
||
Barış S,
|
||
Klein C,
|
||
Geha R,
|
||
Chou J,
|
||
Alosaimi M,
|
||
Weintraub L,
|
||
Boztug K,
|
||
Hirschmugl T,
|
||
Dos Santos Vilela MM,
|
||
Holzinger D,
|
||
Seidl M,
|
||
Lougaris V,
|
||
Plebani A,
|
||
Alsina L,
|
||
Piquer-Gibert M,
|
||
Deyà-Martínez A,
|
||
Slade CA,
|
||
Aghamohammadi A,
|
||
Abolhassani H,
|
||
Hammarström L,
|
||
Kuismin O,
|
||
Helminen M,
|
||
Allen HL,
|
||
Thaventhiran JE,
|
||
Freeman AF,
|
||
Cook M,
|
||
Bakhtiar S,
|
||
Christiansen M,
|
||
Cunningham-Rundles C,
|
||
Patel NC,
|
||
Rae W,
|
||
Niehues T,
|
||
Brauer N,
|
||
Syrjänen J,
|
||
Seppänen MRJ,
|
||
Burns SO,
|
||
Tuijnenburg P,
|
||
Kuijpers TW;
|
||
NIHR BioResource,
|
||
Warnatz K,
|
||
Grimbacher B;
|
||
NIHR BioResource</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2020 Oct;146(4):901-911.
|
||
Epub 2020 Apr 9
|
||
doi: 10.1016/j.jaci.2019.11.051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32278790" target="_blank">32278790</a><a href="/pmc/articles/PMC8246418" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28351785">British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hurst JR,
|
||
Verma N,
|
||
Lowe D,
|
||
Baxendale HE,
|
||
Jolles S,
|
||
Kelleher P,
|
||
Longhurst HJ,
|
||
Patel SY,
|
||
Renzoni EA,
|
||
Sander CR,
|
||
Avery GR,
|
||
Babar JL,
|
||
Buckland MS,
|
||
Burns S,
|
||
Egner W,
|
||
Gompels MM,
|
||
Gordins P,
|
||
Haddock JA,
|
||
Hart SP,
|
||
Hayman GR,
|
||
Herriot R,
|
||
Hoyles RK,
|
||
Huissoon AP,
|
||
Jacob J,
|
||
Nicholson AG,
|
||
Rassl DM,
|
||
Sargur RB,
|
||
Savic S,
|
||
Seneviratne SL,
|
||
Sheaff M,
|
||
Vaitla PM,
|
||
Walters GI,
|
||
Whitehouse JL,
|
||
Wright PA,
|
||
Condliffe AM</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2017 Jul-Aug;5(4):938-945.
|
||
Epub 2017 Mar 25
|
||
doi: 10.1016/j.jaip.2017.01.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28351785" target="_blank">28351785</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20001611">Lamivudine for the treatment of HIV.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar PN,
|
||
Patel P</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Drug Metab Toxicol</span>
|
||
2010 Jan;6(1):105-14.
|
||
doi: 10.1517/17425250903490418.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20001611" target="_blank">20001611</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(immunodeficiency%20105)%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 (210)</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/36328977">Psychiatric disorders in perinatally HIV-exposed, uninfected children: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ameri S,
|
||
Moseholm E,
|
||
Weis N</span><br />
|
||
<span class="medgenPMjournal">AIDS Care</span>
|
||
2024 Jan;36(1):70-79.
|
||
Epub 2022 Nov 3
|
||
doi: 10.1080/09540121.2022.2141185.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36328977" target="_blank">36328977</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32419033">Autoantibodies against cytokines: phenocopies of primary immunodeficiencies?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ku CL,
|
||
Chi CY,
|
||
von Bernuth H,
|
||
Doffinger R</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2020 Jun;139(6-7):783-794.
|
||
Epub 2020 May 17
|
||
doi: 10.1007/s00439-020-02180-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32419033" target="_blank">32419033</a><a href="/pmc/articles/PMC7272486" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30145037">Serological evolution in early syphilis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arando M,
|
||
Mota-Foix M,
|
||
Armegol P,
|
||
Barberá MJ,
|
||
Esperalba J,
|
||
Vall-Mayans M</span><br />
|
||
<span class="medgenPMjournal">Enferm Infecc Microbiol Clin (Engl Ed)</span>
|
||
2019 Mar;37(3):183-186.
|
||
Epub 2018 Aug 23
|
||
doi: 10.1016/j.eimc.2018.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30145037" target="_blank">30145037</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11763340">Characteristics of poliovirus strains from long-term excretors with primary immunodeficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Minor P</span><br />
|
||
<span class="medgenPMjournal">Dev Biol (Basel)</span>
|
||
2001;105:75-80.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11763340" target="_blank">11763340</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9750556">Coccidioidomycosis: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vaz A,
|
||
Pineda-Roman M,
|
||
Thomas AR,
|
||
Carlson RW</span><br />
|
||
<span class="medgenPMjournal">Hosp Pract (1995)</span>
|
||
1998 Sep 15;33(9):105-8, 113-5, 119-20.
|
||
doi: 10.3810/hp.1998.09.107.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9750556" target="_blank">9750556</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%20105%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 (1742)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31313072">WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heusinkveld LE,
|
||
Majumdar S,
|
||
Gao JL,
|
||
McDermott DH,
|
||
Murphy PM</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2019 Aug;39(6):532-556.
|
||
Epub 2019 Jul 16
|
||
doi: 10.1007/s10875-019-00665-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31313072" target="_blank">31313072</a><a href="/pmc/articles/PMC6698215" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28351785">British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hurst JR,
|
||
Verma N,
|
||
Lowe D,
|
||
Baxendale HE,
|
||
Jolles S,
|
||
Kelleher P,
|
||
Longhurst HJ,
|
||
Patel SY,
|
||
Renzoni EA,
|
||
Sander CR,
|
||
Avery GR,
|
||
Babar JL,
|
||
Buckland MS,
|
||
Burns S,
|
||
Egner W,
|
||
Gompels MM,
|
||
Gordins P,
|
||
Haddock JA,
|
||
Hart SP,
|
||
Hayman GR,
|
||
Herriot R,
|
||
Hoyles RK,
|
||
Huissoon AP,
|
||
Jacob J,
|
||
Nicholson AG,
|
||
Rassl DM,
|
||
Sargur RB,
|
||
Savic S,
|
||
Seneviratne SL,
|
||
Sheaff M,
|
||
Vaitla PM,
|
||
Walters GI,
|
||
Whitehouse JL,
|
||
Wright PA,
|
||
Condliffe AM</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2017 Jul-Aug;5(4):938-945.
|
||
Epub 2017 Mar 25
|
||
doi: 10.1016/j.jaip.2017.01.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28351785" target="_blank">28351785</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9750556">Coccidioidomycosis: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vaz A,
|
||
Pineda-Roman M,
|
||
Thomas AR,
|
||
Carlson RW</span><br />
|
||
<span class="medgenPMjournal">Hosp Pract (1995)</span>
|
||
1998 Sep 15;33(9):105-8, 113-5, 119-20.
|
||
doi: 10.3810/hp.1998.09.107.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9750556" target="_blank">9750556</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7937409">Oral and dermatologic manifestations of HIV infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jewell ME,
|
||
Sweet DE</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med</span>
|
||
1994 Oct;96(5):105-8, 111, 114-6.
|
||
doi: 10.1080/00325481.1994.11945910.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7937409" target="_blank">7937409</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1606055">Toxoplasmic encephalitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mariuz PR,
|
||
Luft BJ</span><br />
|
||
<span class="medgenPMjournal">AIDS Clin Rev</span>
|
||
1992:105-30.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1606055" target="_blank">1606055</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%20105%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 (1082)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36322475">Bioavailability of dissolved and crushed single tablets of bictegravir, emtricitabine, tenofovir alafenamide in healthy adults: the SOLUBIC randomized crossover study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hocqueloux L,
|
||
Lefeuvre S,
|
||
Bois J,
|
||
Brucato S,
|
||
Alix A,
|
||
Valentin C,
|
||
Peyro-Saint-Paul L,
|
||
Got L,
|
||
Fournel F,
|
||
Dargere S,
|
||
Prazuck T,
|
||
Fournier A,
|
||
Gregoire N,
|
||
McNicholl I,
|
||
Parienti JJ</span><br />
|
||
<span class="medgenPMjournal">J Antimicrob Chemother</span>
|
||
2022 Dec 23;78(1):161-168.
|
||
doi: 10.1093/jac/dkac369.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36322475" target="_blank">36322475</a><a href="/pmc/articles/PMC9780524" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30577072">Impact of maternal HIV exposure, feeding status, and microbiome on infant cellular immunity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dzanibe S,
|
||
Jaspan HB,
|
||
Zulu MZ,
|
||
Kiravu A,
|
||
Gray CM</span><br />
|
||
<span class="medgenPMjournal">J Leukoc Biol</span>
|
||
2019 Feb;105(2):281-289.
|
||
Epub 2018 Dec 21
|
||
doi: 10.1002/JLB.MR0318-120R.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30577072" target="_blank">30577072</a><a href="/pmc/articles/PMC6923687" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29150032">Thoracic Surgery in Patients with AIDS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jarrar D,
|
||
Song GY</span><br />
|
||
<span class="medgenPMjournal">Thorac Surg Clin</span>
|
||
2018 Feb;28(1):105-108.
|
||
doi: 10.1016/j.thorsurg.2017.09.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29150032" target="_blank">29150032</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25398490">IL-17 and infections.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ling Y,
|
||
Puel A</span><br />
|
||
<span class="medgenPMjournal">Actas Dermosifiliogr</span>
|
||
2014 Oct;105 Suppl 1:34-40.
|
||
doi: 10.1016/S0001-7310(14)70016-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25398490" target="_blank">25398490</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11223861">Adenosine deaminase: functional implications and different classes of inhibitors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cristalli G,
|
||
Costanzi S,
|
||
Lambertucci C,
|
||
Lupidi G,
|
||
Vittori S,
|
||
Volpini R,
|
||
Camaioni E</span><br />
|
||
<span class="medgenPMjournal">Med Res Rev</span>
|
||
2001 Mar;21(2):105-28.
|
||
doi: 10.1002/1098-1128(200103)21:2<105::aid-med1002>3.0.co;2-u.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11223861" target="_blank">11223861</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%20105%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 (1128)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36566079">Lenacapavir administered every 26 weeks or daily in combination with oral daily antiretroviral therapy for initial treatment of HIV: a randomised, open-label, active-controlled, phase 2 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta SK,
|
||
Berhe M,
|
||
Crofoot G,
|
||
Benson P,
|
||
Ramgopal M,
|
||
Sims J,
|
||
McDonald C,
|
||
Ruane P,
|
||
Sanchez WE,
|
||
Scribner A,
|
||
Liu SY,
|
||
VanderVeen LA,
|
||
Dvory-Sobol H,
|
||
Rhee MS,
|
||
Baeten JM,
|
||
Koenig E</span><br />
|
||
<span class="medgenPMjournal">Lancet HIV</span>
|
||
2023 Jan;10(1):e15-e23.
|
||
doi: 10.1016/S2352-3018(22)00291-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36566079" target="_blank">36566079</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35121225">Exploring the application of immunotherapy against HIV infection in the setting of malignancy: A detailed review article.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Makuku R,
|
||
Seyedmirzaei H,
|
||
Tantuoyir MM,
|
||
Rodríguez-Román E,
|
||
Albahash A,
|
||
Mohamed K,
|
||
Moyo E,
|
||
Ahmed AO,
|
||
Razi S,
|
||
Rezaei N</span><br />
|
||
<span class="medgenPMjournal">Int Immunopharmacol</span>
|
||
2022 Apr;105:108580.
|
||
Epub 2022 Feb 1
|
||
doi: 10.1016/j.intimp.2022.108580.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35121225" target="_blank">35121225</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34181569">Fatal Disseminated Strongyloidiasis with Periumbilical Purpura.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pivoto João GA,
|
||
Alves Antunes IF,
|
||
Mendes Dos Santos L</span><br />
|
||
<span class="medgenPMjournal">Am J Trop Med Hyg</span>
|
||
2021 Jun 28;105(4):860-861.
|
||
doi: 10.4269/ajtmh.21-0464.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34181569" target="_blank">34181569</a><a href="/pmc/articles/PMC8592155" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25790407">Mortality hazard and survival after tuberculosis treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller TL,
|
||
Wilson FA,
|
||
Pang JW,
|
||
Beavers S,
|
||
Hoger S,
|
||
Sharnprapai S,
|
||
Pagaoa M,
|
||
Katz DJ,
|
||
Weis SE</span><br />
|
||
<span class="medgenPMjournal">Am J Public Health</span>
|
||
2015 May;105(5):930-7.
|
||
Epub 2015 Mar 19
|
||
doi: 10.2105/AJPH.2014.302431.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25790407" target="_blank">25790407</a><a href="/pmc/articles/PMC4386531" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21144721">Chronic pediatric pulmonary disease and primary humoral antibody based immune disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dosanjh A</span><br />
|
||
<span class="medgenPMjournal">Respir Med</span>
|
||
2011 Apr;105(4):511-4.
|
||
Epub 2010 Dec 8
|
||
doi: 10.1016/j.rmed.2010.11.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21144721" target="_blank">21144721</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%20105%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 (731)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34082174">Cervical cancer screening uptake in Sub-Saharan Africa: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yimer NB,
|
||
Mohammed MA,
|
||
Solomon K,
|
||
Tadese M,
|
||
Grutzmacher S,
|
||
Meikena HK,
|
||
Alemnew B,
|
||
Sharew NT,
|
||
Habtewold TD</span><br />
|
||
<span class="medgenPMjournal">Public Health</span>
|
||
2021 Jun;195:105-111.
|
||
Epub 2021 May 31
|
||
doi: 10.1016/j.puhe.2021.04.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34082174" target="_blank">34082174</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30145037">Serological evolution in early syphilis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arando M,
|
||
Mota-Foix M,
|
||
Armegol P,
|
||
Barberá MJ,
|
||
Esperalba J,
|
||
Vall-Mayans M</span><br />
|
||
<span class="medgenPMjournal">Enferm Infecc Microbiol Clin (Engl Ed)</span>
|
||
2019 Mar;37(3):183-186.
|
||
Epub 2018 Aug 23
|
||
doi: 10.1016/j.eimc.2018.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30145037" target="_blank">30145037</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29756549">Family Functioning in Adolescents with Perinatal HIV Infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Louthrenoo O,
|
||
Aurpibul L,
|
||
Oberdorfer P,
|
||
Sirisanthana V</span><br />
|
||
<span class="medgenPMjournal">J Int Assoc Provid AIDS Care</span>
|
||
2018 Jan-Dec;17:2325958218774782.
|
||
doi: 10.1177/2325958218774782.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29756549" target="_blank">29756549</a><a href="/pmc/articles/PMC6748494" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28351785">British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hurst JR,
|
||
Verma N,
|
||
Lowe D,
|
||
Baxendale HE,
|
||
Jolles S,
|
||
Kelleher P,
|
||
Longhurst HJ,
|
||
Patel SY,
|
||
Renzoni EA,
|
||
Sander CR,
|
||
Avery GR,
|
||
Babar JL,
|
||
Buckland MS,
|
||
Burns S,
|
||
Egner W,
|
||
Gompels MM,
|
||
Gordins P,
|
||
Haddock JA,
|
||
Hart SP,
|
||
Hayman GR,
|
||
Herriot R,
|
||
Hoyles RK,
|
||
Huissoon AP,
|
||
Jacob J,
|
||
Nicholson AG,
|
||
Rassl DM,
|
||
Sargur RB,
|
||
Savic S,
|
||
Seneviratne SL,
|
||
Sheaff M,
|
||
Vaitla PM,
|
||
Walters GI,
|
||
Whitehouse JL,
|
||
Wright PA,
|
||
Condliffe AM</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2017 Jul-Aug;5(4):938-945.
|
||
Epub 2017 Mar 25
|
||
doi: 10.1016/j.jaip.2017.01.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28351785" target="_blank">28351785</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25398490">IL-17 and infections.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ling Y,
|
||
Puel A</span><br />
|
||
<span class="medgenPMjournal">Actas Dermosifiliogr</span>
|
||
2014 Oct;105 Suppl 1:34-40.
|
||
doi: 10.1016/S0001-7310(14)70016-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25398490" target="_blank">25398490</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%20105%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 (929)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36328977">Psychiatric disorders in perinatally HIV-exposed, uninfected children: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ameri S,
|
||
Moseholm E,
|
||
Weis N</span><br />
|
||
<span class="medgenPMjournal">AIDS Care</span>
|
||
2024 Jan;36(1):70-79.
|
||
Epub 2022 Nov 3
|
||
doi: 10.1080/09540121.2022.2141185.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36328977" target="_blank">36328977</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37879633">Systematic review and meta-analysis of the global prevalence of sexually transmitted infections in people living with HIV and associated risk factors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ebrahimi M,
|
||
Mehdizad N,
|
||
Yeganeh-Sefidan F,
|
||
Safarpour H,
|
||
Pagheh AS,
|
||
Pouremamali A,
|
||
Shiralizadeh S,
|
||
Ghodrati A,
|
||
Jafari S,
|
||
Shahrivar F,
|
||
Heidarzadeh S,
|
||
Montazeri M,
|
||
Yousef-Memar M,
|
||
Rodrigues-Oliveira SM,
|
||
de-Lourdes-Pereira M,
|
||
Beloukas A,
|
||
Hatam-Nahavandi K,
|
||
Barac A,
|
||
Shirvaliloo M,
|
||
Ahmadpour E</span><br />
|
||
<span class="medgenPMjournal">AIDS Rev</span>
|
||
2023;26(3):105-126.
|
||
doi: 10.24875/AIDSRev.23000008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37879633" target="_blank">37879633</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34082174">Cervical cancer screening uptake in Sub-Saharan Africa: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yimer NB,
|
||
Mohammed MA,
|
||
Solomon K,
|
||
Tadese M,
|
||
Grutzmacher S,
|
||
Meikena HK,
|
||
Alemnew B,
|
||
Sharew NT,
|
||
Habtewold TD</span><br />
|
||
<span class="medgenPMjournal">Public Health</span>
|
||
2021 Jun;195:105-111.
|
||
Epub 2021 May 31
|
||
doi: 10.1016/j.puhe.2021.04.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34082174" target="_blank">34082174</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28353537">Defining HIV-1 transmission clusters based on sequence data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hassan AS,
|
||
Pybus OG,
|
||
Sanders EJ,
|
||
Albert J,
|
||
Esbjörnsson J</span><br />
|
||
<span class="medgenPMjournal">AIDS</span>
|
||
2017 Jun 1;31(9):1211-1222.
|
||
doi: 10.1097/QAD.0000000000001470.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28353537" target="_blank">28353537</a><a href="/pmc/articles/PMC5482559" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26688556">Effectiveness of semen washing to prevent human immunodeficiency virus (HIV) transmission and assist pregnancy in HIV-discordant couples: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zafer M,
|
||
Horvath H,
|
||
Mmeje O,
|
||
van der Poel S,
|
||
Semprini AE,
|
||
Rutherford G,
|
||
Brown J</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2016 Mar;105(3):645-655.e2.
|
||
Epub 2015 Dec 11
|
||
doi: 10.1016/j.fertnstert.2015.11.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26688556" target="_blank">26688556</a><a href="/pmc/articles/PMC4779710" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%20105%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 (38)</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 -->
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||
<div class="rightCol mgCol">
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5677005%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C5677005%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5677005%5bDISCUI%5d" target="_blank">See all (2)</a></total></li>
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</ul></div>
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||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=619924" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Immunodeficiency%20105" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
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<div class="portlet mgSection" id="ID_121">
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<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>
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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%20105)%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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<div class="portlet mgSection" id="ID_115">
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<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>
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||
<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=151460" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=5788[geneid]" target="_blank">View PTPRC variations in ClinVar</a></li><li><a href="/nuccore/188219645" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=619924" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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</div>
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<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/immunodeficiency_105_severe_combined" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Immunodeficiency%20105" target="_blank">MedlinePlus</a></li></ul></div>
|
||
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<div class="portlet brieflink">
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||
<div class="portlet_head">
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<h3>Reviews</h3>
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<div class="portlet_content">
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<ul>
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<li>
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||
<a href="/pubmed/clinical?term=Immunodeficiency%20105" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
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||
<li>
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||
<a href="/pubmed?term=Immunodeficiency%20105%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>
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||
</div>
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||
</div>
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||
|
||
<!-- MedGen supplemental column ends here -->
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||
<div class="portlet brieflink">
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||
<div class="portlet_head">
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<div class="portlet_title">
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<h3>Related information</h3>
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||
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||
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<div class="portlet_content DiscoveryDbLinks">
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<ul>
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||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1809425" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1809425" ref="log$=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=C5677005[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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