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<meta name="keywords" content="C5231402, disease or syndrome, imd64, immunodeficiency 64, immunodeficiency 64 with lymphoproliferation, rasgrp1, 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-64 with lymphoproliferation (IMD64) is an autosomal recessive primary immunodeficiency characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show variably decreased numbers of T cells, with lesser deficiencies of B and NK cells. There is impaired T-cell proliferation and activation; functional defects in B cells and NK cells may also be observed. Patients have increased susceptibility to EBV infection and may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity (summary by Salzer et al., 2016, Mao et al., 2018, and Winter et al., 2018)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Immunodeficiency 64 (Concept Id: C5231402)
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<!--
UID=1684716
ConceptID=C5231402
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Immunodeficiency 64<span class="h1sub">(IMD64)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684716</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)&#10;Click for more information."><span class="highlight" style="background-color:">C5231402</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>IMMUNODEFICIENCY 64 WITH LYMPHOPROLIFERATION</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="RASGRP1 - ID: 10125 - NCBI Gene" href="/gene/10125" class="medgenPMinfo">RASGRP1</a> (15q14)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0032803" target="_blank">MONDO:0032803</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/618534" target="_blank">618534</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<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-64 with lymphoproliferation (IMD64) is an autosomal recessive primary immunodeficiency characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show variably decreased numbers of T cells, with lesser deficiencies of B and NK cells. There is impaired T-cell proliferation and activation; functional defects in B cells and NK cells may also be observed. Patients have increased susceptibility to EBV infection and may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity (summary by Salzer et al., 2016, Mao et al., 2018, and Winter et al., 2018). [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)&#10;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_3129"><div><strong>Clubbing of fingers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3129</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)&#10;Click for more information.">C0009080</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Terminal broadening of the fingers (distal phalanges of the fingers).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3129">Feature record</a> | <a href="/medgen?term=%22Clubbing%20of%20fingers%22%5BClinical%20Features%5D%20OR%203129%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</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)&#10;Click for more information.">C2315100</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%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)&#10;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_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)&#10;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_756211"><div><strong>Recurrent lower respiratory tract infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>756211</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)&#10;Click for more information.">C3163798</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/756211">Feature record</a> | <a href="/medgen?term=%22Recurrent%20lower%20respiratory%20tract%20infections%22%5BClinical%20Features%5D%20OR%20756211%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1918"><div><strong>Autoimmune hemolytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1918</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)&#10;Click for more information.">C0002880</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An autoimmune form of hemolytic anemia.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1918">Feature record</a> | <a href="/medgen?term=%22Autoimmune%20hemolytic%20anemia%22%5BClinical%20Features%5D%20OR%201918%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)&#10;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_101792"><div><strong>Antinuclear antibody positivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101792</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)&#10;Click for more information.">C0151480</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 nuclei or nuclear components.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Antinuclear%20antibody%20positivity%22%5BClinical%20Features%5D%20OR%20101792%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66724"><div><strong>Cervical lymphadenopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66724</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)&#10;Click for more information.">C0235592</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Enlarged lymph nodes in the neck.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66724">Feature record</a> | <a href="/medgen?term=%22Cervical%20lymphadenopathy%22%5BClinical%20Features%5D%20OR%2066724%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66800"><div><strong>Increased circulating IgA concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66800</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)&#10;Click for more information.">C0239984</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally increased level of immunoglobulin A in blood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66800">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20IgA%20concentration%22%5BClinical%20Features%5D%20OR%2066800%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_65998"><div><strong>Recurrent infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65998</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)&#10;Click for more information.">C0239998</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Increased susceptibility to infections.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/65998">Feature record</a> | <a href="/medgen?term=%22Recurrent%20infections%22%5BClinical%20Features%5D%20OR%2065998%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_116621"><div><strong>Autoimmune thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116621</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)&#10;Click for more information.">C0242584</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/116621">Feature record</a> | <a href="/medgen?term=%22Autoimmune%20thrombocytopenia%22%5BClinical%20Features%5D%20OR%20116621%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_96929"><div><strong>Lymphadenopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96929</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)&#10;Click for more information.">C0497156</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Enlargement (swelling) of a lymph node.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/96929">Feature record</a> | <a href="/medgen?term=%22Lymphadenopathy%22%5BClinical%20Features%5D%20OR%2096929%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_333454"><div><strong>Increased circulating IgM level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333454</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)&#10;Click for more information.">C1839972</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally increased level of immunoglobulin M in blood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/333454">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20IgM%20level%22%5BClinical%20Features%5D%20OR%20333454%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_347032"><div><strong>Increased circulating IgG concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347032</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)&#10;Click for more information.">C1858977</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally increased level of immunoglobulin G in blood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/347032">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20IgG%20concentration%22%5BClinical%20Features%5D%20OR%20347032%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_868165"><div><strong>Defective T cell proliferation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868165</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)&#10;Click for more information.">C4022557</a></dd><dt><span class="dotprefix"></span></dt><dd>Cell or Molecular Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">A reduced ability of a T cell population to expand by cell division following T cell activation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/868165">Feature record</a> | <a href="/medgen?term=%22Defective%20T%20cell%20proliferation%22%5BClinical%20Features%5D%20OR%20868165%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1392952"><div><strong>Anti-thyroid peroxidase antibody positivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1392952</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)&#10;Click for more information.">C4476743</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 (immunoglobulins) in the serum that react against thyroid peroxidase.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Anti-thyroid%20peroxidase%20antibody%20positivity%22%5BClinical%20Features%5D%20OR%201392952%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1619994"><div><strong>Abnormal CD4:CD8 ratio</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1619994</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)&#10;Click for more information.">C4531154</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1619994">Feature record</a> | <a href="/medgen?term=%22Abnormal%20CD4%3ACD8%20ratio%22%5BClinical%20Features%5D%20OR%201619994%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1615224"><div><strong>Decreased lymphocyte proliferation in response to mitogen</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1615224</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)&#10;Click for more information.">C4531166</a></dd><dt><span class="dotprefix"></span></dt><dd>Cell or Molecular Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1615224">Feature record</a> | <a href="/medgen?term=%22Decreased%20lymphocyte%20proliferation%20in%20response%20to%20mitogen%22%5BClinical%20Features%5D%20OR%201615224%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1670955"><div><strong>Anti-thyroglobulin antibody positivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1670955</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)&#10;Click for more information.">C4732836</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1670955">Feature record</a> | <a href="/medgen?term=%22Anti-thyroglobulin%20antibody%20positivity%22%5BClinical%20Features%5D%20OR%201670955%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1698933"><div><strong>Decreased proportion of CD4-positive T cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1698933</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)&#10;Click for more information.">C5139203</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A reduction in the proportion of CD4-positive T cells relative to the total number of T cells.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1698933">Feature record</a> | <a href="/medgen?term=%22Decreased%20proportion%20of%20CD4-positive%20T%20cells%22%5BClinical%20Features%5D%20OR%201698933%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)&#10;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_1772613"><div><strong>Increased proportion autoreactive unresponsive CD21-/low B cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1772613</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)&#10;Click for more information.">C5421684</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1772613">Feature record</a> | <a href="/medgen?term=%22Increased%20proportion%20autoreactive%20unresponsive%20CD21-%2Flow%20B%20cells%22%5BClinical%20Features%5D%20OR%201772613%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_451062"><div><strong>Mediastinal lymphadenopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>451062</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)&#10;Click for more information.">C0520743</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/451062">Feature record</a> | <a href="/medgen?term=%22Mediastinal%20lymphadenopathy%22%5BClinical%20Features%5D%20OR%20451062%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3129" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clubbing of fingers</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_1619994" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal CD4:CD8 ratio</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1670955" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anti-thyroglobulin antibody positivity</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1392952" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anti-thyroid peroxidase antibody positivity</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101792" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Antinuclear antibody positivity</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1918" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune hemolytic anemia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116621" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune thrombocytopenia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66724" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cervical lymphadenopathy</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_1615224" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased lymphocyte proliferation in response to mitogen</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1698933" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased proportion of CD4-positive T cells</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868165" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Defective T cell proliferation</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66800" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating IgA concentration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347032" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating IgG concentration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating IgM level</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1772613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased proportion autoreactive unresponsive CD21-/low B cells</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96929" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphadenopathy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65998" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent infections</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_756211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent lower respiratory tract infections</a></span></li></ul></li><li><span class="TLline">Abnormality of the thoracic cavity</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_451062" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mediastinal lymphadenopathy</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</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/38997717">Metagenomic next-generation sequencing promotes diagnosis and treatment of Pneumocystis jirovecii pneumonia in non-HIV infected children: a retrospective study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Z,
Liu T,
Ming M,
Shen M,
Zhang Y,
Chen H,
Chen W,
Tao J,
Wang Y,
Liu J,
Zhou J,
Lu G,
Yan G</span><br />
<span class="medgenPMjournal">BMC Pulm Med</span>
2024 Jul 12;24(1):338.
doi: 10.1186/s12890-024-03135-1.
<span class="bold">PMID: </span><a href="/pubmed/38997717" target="_blank">38997717</a><a href="/pmc/articles/PMC11241876" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22immunodeficiency%2064%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/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/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/28941537">Immunoparalysis in Pediatric Critical Care.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hall MW,
Greathouse KC,
Thakkar RK,
Sribnick EA,
Muszynski JA</span><br />
<span class="medgenPMjournal">Pediatr Clin North Am</span>
2017 Oct;64(5):1089-1102.
Epub 2017 Aug 18
doi: 10.1016/j.pcl.2017.06.008.
<span class="bold">PMID: </span><a href="/pubmed/28941537" target="_blank">28941537</a><a href="/pmc/articles/PMC5724958" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22430715">Bacillus Calmette-Guérin (BCG) complications associated with primary immunodeficiency diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Norouzi S,
Aghamohammadi A,
Mamishi S,
Rosenzweig SD,
Rezaei N</span><br />
<span class="medgenPMjournal">J Infect</span>
2012 Jun;64(6):543-54.
Epub 2012 Mar 16
doi: 10.1016/j.jinf.2012.03.012.
<span class="bold">PMID: </span><a href="/pubmed/22430715" target="_blank">22430715</a><a href="/pmc/articles/PMC4792288" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3069166">A review of HIV-1 in Africa.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ronald AR,
Ndinya-Achola JO,
Plummer FA,
Simonsen JN,
Cameron DW,
Ngugi EN,
Pamba H</span><br />
<span class="medgenPMjournal">Bull N Y Acad Med</span>
1988 Jul-Aug;64(6):480-90.
<span class="bold">PMID: </span><a href="/pubmed/3069166" target="_blank">3069166</a><a href="/pmc/articles/PMC1630576" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2064%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 (7872)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35278261">Cartilage-hair hypoplasia with T-cell dysfunction.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tomomasa D,
Sato T,
Hasegawa T,
Morio T,
Kanegane H</span><br />
<span class="medgenPMjournal">Pediatr Int</span>
2022 Jan;64(1):e15080.
doi: 10.1111/ped.15080.
<span class="bold">PMID: </span><a href="/pubmed/35278261" target="_blank">35278261</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31111319">Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jamee M,
Moniri S,
Zaki-Dizaji M,
Olbrich P,
Yazdani R,
Jadidi-Niaragh F,
Aghamahdi F,
Abolhassani H,
Condliffe AM,
Aghamohammadi A,
Azizi G</span><br />
<span class="medgenPMjournal">Clin Rev Allergy Immunol</span>
2020 Dec;59(3):323-333.
doi: 10.1007/s12016-019-08738-9.
<span class="bold">PMID: </span><a href="/pubmed/31111319" target="_blank">31111319</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28941537">Immunoparalysis in Pediatric Critical Care.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hall MW,
Greathouse KC,
Thakkar RK,
Sribnick EA,
Muszynski JA</span><br />
<span class="medgenPMjournal">Pediatr Clin North Am</span>
2017 Oct;64(5):1089-1102.
Epub 2017 Aug 18
doi: 10.1016/j.pcl.2017.06.008.
<span class="bold">PMID: </span><a href="/pubmed/28941537" target="_blank">28941537</a><a href="/pmc/articles/PMC5724958" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27894451">Eczema and Urticaria as Manifestations of Undiagnosed and Rare Diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Youssef MJ,
Chiu YE</span><br />
<span class="medgenPMjournal">Pediatr Clin North Am</span>
2017 Feb;64(1):39-56.
doi: 10.1016/j.pcl.2016.08.004.
<span class="bold">PMID: </span><a href="/pubmed/27894451" target="_blank">27894451</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27892248">Human immunodeficiency virus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Skinner A</span><br />
<span class="medgenPMjournal">Nurs Stand</span>
2016 Nov 23;31(13):64-65.
doi: 10.7748/ns.31.13.64.s46.
<span class="bold">PMID: </span><a href="/pubmed/27892248" target="_blank">27892248</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2064%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 (4429)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38969098">Disparities in geography and race in hereditary angioedema: Analysis of 64 trials and 4354 patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mak HWF,
So SWM,
Longhurst HJ,
Maurer M,
Peter J,
Riedl M,
Li PH</span><br />
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
2024 Oct;12(10):2870-2872.e2.
Epub 2024 Jul 3
doi: 10.1016/j.jaip.2024.06.041.
<span class="bold">PMID: </span><a href="/pubmed/38969098" target="_blank">38969098</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36868261">Efficacy and safety of garadacimab, a factor XIIa inhibitor for hereditary angioedema prevention (VANGUARD): a global, multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Craig TJ,
Reshef A,
Li HH,
Jacobs JS,
Bernstein JA,
Farkas H,
Yang WH,
Stroes ESG,
Ohsawa I,
Tachdjian R,
Manning ME,
Lumry WR,
Saguer IM,
Aygören-Pürsün E,
Ritchie B,
Sussman GL,
Anderson J,
Kawahata K,
Suzuki Y,
Staubach P,
Treudler R,
Feuersenger H,
Glassman F,
Jacobs I,
Magerl M</span><br />
<span class="medgenPMjournal">Lancet</span>
2023 Apr 1;401(10382):1079-1090.
Epub 2023 Feb 28
doi: 10.1016/S0140-6736(23)00350-1.
<span class="bold">PMID: </span><a href="/pubmed/36868261" target="_blank">36868261</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30304148">Are women living with HIV prone to osteoporosis in postmenopause? A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cezarino PYA,
Simões RDS,
Baracat EC,
Soares Junior JM</span><br />
<span class="medgenPMjournal">Rev Assoc Med Bras (1992)</span>
2018 May;64(5):469-473.
doi: 10.1590/1806-9282.64.05.469.
<span class="bold">PMID: </span><a href="/pubmed/30304148" target="_blank">30304148</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22430715">Bacillus Calmette-Guérin (BCG) complications associated with primary immunodeficiency diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Norouzi S,
Aghamohammadi A,
Mamishi S,
Rosenzweig SD,
Rezaei N</span><br />
<span class="medgenPMjournal">J Infect</span>
2012 Jun;64(6):543-54.
Epub 2012 Mar 16
doi: 10.1016/j.jinf.2012.03.012.
<span class="bold">PMID: </span><a href="/pubmed/22430715" target="_blank">22430715</a><a href="/pmc/articles/PMC4792288" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9250266">The results of direct and indirect treatment comparisons in meta-analysis of randomized controlled trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bucher HC,
Guyatt GH,
Griffith LE,
Walter SD</span><br />
<span class="medgenPMjournal">J Clin Epidemiol</span>
1997 Jun;50(6):683-91.
doi: 10.1016/s0895-4356(97)00049-8.
<span class="bold">PMID: </span><a href="/pubmed/9250266" target="_blank">9250266</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2064%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 (4865)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37494044">Causes of Death Among Infants and Children in the Child Health and Mortality Prevention Surveillance (CHAMPS) Network.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bassat Q,
Blau DM,
Ogbuanu IU,
Samura S,
Kaluma E,
Bassey IA,
Sow S,
Keita AM,
Tapia MD,
Mehta A,
Kotloff KL,
Rahman A,
Islam KM,
Alam M,
El Arifeen S,
Gurley ES,
Baillie V,
Mutevedzi P,
Mahtab S,
Thwala BN,
Tippett Barr BA,
Onyango D,
Akelo V,
Rogena E,
Onyango P,
Omore R,
Mandomando I,
Ajanovic S,
Varo R,
Sitoe A,
Duran-Frigola M,
Assefa N,
Scott JAG,
Madrid L,
Tesfaye T,
Dessie Y,
Madewell ZJ,
Breiman RF,
Whitney CG,
Madhi SA;
Child Health and Mortality Prevention Surveillance (CHAMPS) Network</span><br />
<span class="medgenPMjournal">JAMA Netw Open</span>
2023 Jul 3;6(7):e2322494.
doi: 10.1001/jamanetworkopen.2023.22494.
<span class="bold">PMID: </span><a href="/pubmed/37494044" target="_blank">37494044</a><a href="/pmc/articles/PMC10372710" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35610524">Incidence and risk factors of atrial fibrillation and atrial arrhythmias in people living with HIV: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Park DY,
An S,
Romero ME,
Kaur A,
Ravi V,
Huang HD,
Vij A</span><br />
<span class="medgenPMjournal">J Interv Card Electrophysiol</span>
2022 Oct;65(1):183-191.
Epub 2022 May 24
doi: 10.1007/s10840-022-01233-w.
<span class="bold">PMID: </span><a href="/pubmed/35610524" target="_blank">35610524</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20731239">HIV/AIDS and aging.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Simon K,
Simon R,
Serafińska S</span><br />
<span class="medgenPMjournal">Przegl Epidemiol</span>
2010;64(2):287-92.
<span class="bold">PMID: </span><a href="/pubmed/20731239" target="_blank">20731239</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17132052">Projections of global mortality and burden of disease from 2002 to 2030.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mathers CD,
Loncar D</span><br />
<span class="medgenPMjournal">PLoS Med</span>
2006 Nov;3(11):e442.
doi: 10.1371/journal.pmed.0030442.
<span class="bold">PMID: </span><a href="/pubmed/17132052" target="_blank">17132052</a><a href="/pmc/articles/PMC1664601" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11969128">The pathology of HIV infection.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lucas S</span><br />
<span class="medgenPMjournal">Lepr Rev</span>
2002 Mar;73(1):64-71.
<span class="bold">PMID: </span><a href="/pubmed/11969128" target="_blank">11969128</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2064%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 (3244)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38365064">Factors associated with patient satisfaction with antiretroviral therapy in Japan: A cross-sectional, multicenter study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hikasa S,
Ishihara M,
Tsukiji M,
Kunimoto Y,
Nobori K,
Kimura T,
Onishi K,
Yamamoto Y,
Haruta K,
Kasiwabara Y,
Fujii K,
Kimura T</span><br />
<span class="medgenPMjournal">J Infect Chemother</span>
2024 Aug;30(8):746-751.
Epub 2024 Feb 15
doi: 10.1016/j.jiac.2024.02.012.
<span class="bold">PMID: </span><a href="/pubmed/38365064" target="_blank">38365064</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36800631">Prospective evaluation of radiographic manifestations of tuberculosis in relationship with CD4 count in patients with HIV/AIDS.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Frey V,
Phi Van VD,
Fehr JS,
Ledergerber B,
Sekaggya-Wiltshire C,
Castelnuovo B,
Kambugu A,
Bauer M,
Eberhard N,
Martini K,
Frauenfelder T</span><br />
<span class="medgenPMjournal">Medicine (Baltimore)</span>
2023 Feb 17;102(7):e32917.
doi: 10.1097/MD.0000000000032917.
<span class="bold">PMID: </span><a href="/pubmed/36800631" target="_blank">36800631</a><a href="/pmc/articles/PMC9935974" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36259166">iPS cells from Chediak-Higashi syndrome patients recapitulate the giant granules in myeloid cells.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Oh S,
Niwa A,
Nagahashi A,
Asaka I,
Nakahata T,
Saito MK</span><br />
<span class="medgenPMjournal">Pediatr Int</span>
2022 Jan;64(1):e15390.
doi: 10.1111/ped.15390.
<span class="bold">PMID: </span><a href="/pubmed/36259166" target="_blank">36259166</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34702119">Risk factors for severe infections in secondary immunodeficiency: a retrospective US administrative claims study in patients with hematological malignancies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jolles S,
Smith BD,
Vinh DC,
Mallick R,
Espinoza G,
DeKoven M,
Divino V</span><br />
<span class="medgenPMjournal">Leuk Lymphoma</span>
2022 Jan;63(1):64-73.
Epub 2021 Oct 26
doi: 10.1080/10428194.2021.1992761.
<span class="bold">PMID: </span><a href="/pubmed/34702119" target="_blank">34702119</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19488613">Oral complications of HIV disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leao JC,
Ribeiro CM,
Carvalho AA,
Frezzini C,
Porter S</span><br />
<span class="medgenPMjournal">Clinics (Sao Paulo)</span>
2009 May;64(5):459-70.
doi: 10.1590/s1807-59322009000500014.
<span class="bold">PMID: </span><a href="/pubmed/19488613" target="_blank">19488613</a><a href="/pmc/articles/PMC2694251" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2064%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 (3970)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/36921717">Prevalence of human immunodeficiency virus, syphilis, and hepatitis B and C virus infections in pregnant women: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wu S,
Wang J,
Guo Q,
Lan H,
Sun Y,
Ren M,
Liu Y,
Wang P,
Wang L,
Su R,
Zhang J,
Chen Y,
Li G</span><br />
<span class="medgenPMjournal">Clin Microbiol Infect</span>
2023 Aug;29(8):1000-1007.
Epub 2023 Mar 13
doi: 10.1016/j.cmi.2023.03.002.
<span class="bold">PMID: </span><a href="/pubmed/36921717" target="_blank">36921717</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35705116">Cannabis in Palliative Care: A Systematic Review of Current Evidence.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Doppen M,
Kung S,
Maijers I,
John M,
Dunphy H,
Townsley H,
Eathorne A,
Semprini A,
Braithwaite I</span><br />
<span class="medgenPMjournal">J Pain Symptom Manage</span>
2022 Nov;64(5):e260-e284.
Epub 2022 Jun 12
doi: 10.1016/j.jpainsymman.2022.06.002.
<span class="bold">PMID: </span><a href="/pubmed/35705116" target="_blank">35705116</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33212031">Estimates of the global burden of cervical cancer associated with HIV.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stelzle D,
Tanaka LF,
Lee KK,
Ibrahim Khalil A,
Baussano I,
Shah ASV,
McAllister DA,
Gottlieb SL,
Klug SJ,
Winkler AS,
Bray F,
Baggaley R,
Clifford GM,
Broutet N,
Dalal S</span><br />
<span class="medgenPMjournal">Lancet Glob Health</span>
2021 Feb;9(2):e161-e169.
Epub 2020 Nov 16
doi: 10.1016/S2214-109X(20)30459-9.
<span class="bold">PMID: </span><a href="/pubmed/33212031" target="_blank">33212031</a><a href="/pmc/articles/PMC7815633" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31111319">Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jamee M,
Moniri S,
Zaki-Dizaji M,
Olbrich P,
Yazdani R,
Jadidi-Niaragh F,
Aghamahdi F,
Abolhassani H,
Condliffe AM,
Aghamohammadi A,
Azizi G</span><br />
<span class="medgenPMjournal">Clin Rev Allergy Immunol</span>
2020 Dec;59(3):323-333.
doi: 10.1007/s12016-019-08738-9.
<span class="bold">PMID: </span><a href="/pubmed/31111319" target="_blank">31111319</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27063975">Idiopathic multicentric Castleman's disease: a systematic literature review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liu AY,
Nabel CS,
Finkelman BS,
Ruth JR,
Kurzrock R,
van Rhee F,
Krymskaya VP,
Kelleher D,
Rubenstein AH,
Fajgenbaum DC</span><br />
<span class="medgenPMjournal">Lancet Haematol</span>
2016 Apr;3(4):e163-75.
Epub 2016 Mar 17
doi: 10.1016/S2352-3026(16)00006-5.
<span class="bold">PMID: </span><a href="/pubmed/27063975" target="_blank">27063975</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2064%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 (322)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5231402%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
<li><a href="/gtr/tests?term=C5231402%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5231402%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
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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=(%22immunodeficiency%2064%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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