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<meta name="keywords" content="C5436860, disease or syndrome, imd75, immunodeficiency 75, immunodeficiency 75 with lymphoproliferation, tet2, 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-75 with lymphoproliferation (IMD75) is an autosomal recessive immunologic disorder characterized by immunodeficiency, immune dysregulation, and the development of lymphoproliferative disorders, including lymphoma. Affected individuals usually present in infancy with severe and recurrent infections, mainly viral and affecting the respiratory tract. Some patients may have autoimmune cytopenias, anemia, or thrombocytopenia. Patients also develop hepatosplenomegaly, lymphadenopathy, lymphoproliferative disorders, and various types of T- or B-cell lymphomas. Immunologic work-up shows decreased class-switched B cells, impaired B-cell terminal differentiation, and hypo- or hypergammaglobulinemia. There is skewed differentiation and dysregulation of T cells, as well as possibly disrupted hematopoiesis. Additional features include failure to thrive and global developmental delay. The phenotype may be reminiscent of ALPS (601859), including laboratory evidence of impaired Fas-dependent T-cell apoptosis. Although hematopoietic stem cell transplantation may be effective treatment, many patients die in childhood (summary by Stremenova Spegarova et al., 2020)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1741014
|
||
ConceptID=C5436860
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Immunodeficiency 75<span class="h1sub">(IMD75)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1741014</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:">C5436860</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 75 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="TET2 - ID: 54790 - NCBI Gene" href="/gene/54790" class="medgenPMinfo">TET2</a> (4q24)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0030858" target="_blank">MONDO:0030858</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619126" target="_blank">619126</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-75 with lymphoproliferation (IMD75) is an autosomal recessive immunologic disorder characterized by immunodeficiency, immune dysregulation, and the development of lymphoproliferative disorders, including lymphoma. Affected individuals usually present in infancy with severe and recurrent infections, mainly viral and affecting the respiratory tract. Some patients may have autoimmune cytopenias, anemia, or thrombocytopenia. Patients also develop hepatosplenomegaly, lymphadenopathy, lymphoproliferative disorders, and various types of T- or B-cell lymphomas. Immunologic work-up shows decreased class-switched B cells, impaired B-cell terminal differentiation, and hypo- or hypergammaglobulinemia. There is skewed differentiation and dysregulation of T cells, as well as possibly disrupted hematopoiesis. Additional features include failure to thrive and global developmental delay. The phenotype may be reminiscent of ALPS (601859), including laboratory evidence of impaired Fas-dependent T-cell apoptosis. Although hematopoietic stem cell transplantation may be effective treatment, many patients die in childhood (summary by Stremenova Spegarova et al., 2020). [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">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_44223"><div><strong>Lymphoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44223</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.">C0024299</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44223">Feature record</a> | <a href="/medgen?term=%22Lymphoma%22%5BClinical%20Features%5D%20OR%2044223%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_500807"><div><strong>Moderate global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>500807</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.">C2237142</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/500807">Feature record</a> | <a href="/medgen?term=%22Moderate%20global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20500807%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14234"><div><strong>Bronchiectasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14234</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0006267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14234">Feature record</a> | <a href="/medgen?term=%22Bronchiectasis%22%5BClinical%20Features%5D%20OR%2014234%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_812812"><div><strong>Recurrent respiratory infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812812</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3806482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/812812">Feature record</a> | <a href="/medgen?term=%22Recurrent%20respiratory%20infections%22%5BClinical%20Features%5D%20OR%20812812%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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) 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_767466"><div><strong>Persistent EBV viremia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767466</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3554552</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent presence of Epstein-Barr virus in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767466">Feature record</a> | <a href="/medgen?term=%22Persistent%20EBV%20viremia%22%5BClinical%20Features%5D%20OR%20767466%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_863170"><div><strong>Follicular hyperplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863170</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.">C4014733</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863170">Feature record</a> | <a href="/medgen?term=%22Follicular%20hyperplasia%22%5BClinical%20Features%5D%20OR%20863170%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892709"><div><strong>Decreased proportion of class-switched memory B cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892709</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.">C4072925</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892709">Feature record</a> | <a href="/medgen?term=%22Decreased%20proportion%20of%20class-switched%20memory%20B%20cells%22%5BClinical%20Features%5D%20OR%20892709%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1788667"><div><strong>Decreased FasL-mediated apoptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1788667</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.">C5539888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Cell or Molecular Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1788667">Feature record</a> | <a href="/medgen?term=%22Decreased%20FasL-mediated%20apoptosis%22%5BClinical%20Features%5D%20OR%201788667%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">Abnormal cellular phenotype</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1788667" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased FasL-mediated apoptosis</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_892709" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased proportion of class-switched memory B cells</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_863170" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Follicular hyperplasia</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_767466" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Persistent EBV viremia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_500807" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Moderate global developmental delay</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_812812" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent respiratory infections</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44223" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">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/14978145">Viral encephalitis: causes, differential diagnosis, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kennedy PG</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2004 Mar;75 Suppl 1(Suppl 1):i10-5.
|
||
doi: 10.1136/jnnp.2003.034280.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14978145" target="_blank">14978145</a><a href="/pmc/articles/PMC1765650" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14978144">Neurological syndromes and the traveller: an approach to differential diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Day JN,
|
||
Lalloo DG</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2004 Mar;75 Suppl 1(Suppl 1):i2-9.
|
||
doi: 10.1136/jnnp.2003.034330.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14978144" target="_blank">14978144</a><a href="/pmc/articles/PMC1765648" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10708007">Clinical management and prevention of sexually transmitted diseases: a review focusing on women.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brabin L</span><br />
|
||
<span class="medgenPMjournal">Acta Trop</span>
|
||
2000 Feb 25;75(1):53-70.
|
||
doi: 10.1016/s0001-706x(99)00093-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10708007" target="_blank">10708007</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(immunodeficiency%2075)%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 (1025)</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/39369446">High malignancy rate in IgE-deficient children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uygun DFK,
|
||
Uygun V,
|
||
Başaran A,
|
||
Kocatepe G,
|
||
Kazlı T,
|
||
Bingöl A</span><br />
|
||
<span class="medgenPMjournal">Int J Cancer</span>
|
||
2025 Mar 1;156(5):964-968.
|
||
Epub 2024 Oct 6
|
||
doi: 10.1002/ijc.35213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39369446" target="_blank">39369446</a><a href="/pmc/articles/PMC11701383" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35594548">Susceptibility to Human Immunodeficiency Virus Type 1 Acquisition Linked to Malaria Exposure: A Case-Control Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kamau E,
|
||
Chaudhury S,
|
||
Bolton JS,
|
||
Slike BM,
|
||
Jian N,
|
||
Eller MA,
|
||
Eller LA,
|
||
Ake J,
|
||
Robb ML,
|
||
Krebs SJ,
|
||
Bergmann-Leitner ES</span><br />
|
||
<span class="medgenPMjournal">Clin Infect Dis</span>
|
||
2022 Nov 14;75(10):1834-1837.
|
||
doi: 10.1093/cid/ciac384.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35594548" target="_blank">35594548</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27188527">HIV infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deeks SG,
|
||
Overbaugh J,
|
||
Phillips A,
|
||
Buchbinder S</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2015 Oct 1;1:15035.
|
||
doi: 10.1038/nrdp.2015.35.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27188527" target="_blank">27188527</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11957193">Neutropenia associated with primary immunodeficiency syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cham B,
|
||
Bonilla MA,
|
||
Winkelstein J</span><br />
|
||
<span class="medgenPMjournal">Semin Hematol</span>
|
||
2002 Apr;39(2):107-12.
|
||
doi: 10.1053/shem.2002.31916.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11957193" target="_blank">11957193</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2075%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 (8834)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34980705">Assessment of the Proportion of Recent HIV-1 Infections in Newly-Diagnosed Cases in Ghana.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matsuoka S,
|
||
Adusei-Poku MA,
|
||
Abana CZ,
|
||
Duker EO,
|
||
Bonney EY,
|
||
Ofori SB,
|
||
Parbie PK,
|
||
Okazaki M,
|
||
Kawana-Tachikawa A,
|
||
Ishikawa K,
|
||
Ampofo WK,
|
||
Matano T</span><br />
|
||
<span class="medgenPMjournal">Jpn J Infect Dis</span>
|
||
2022 Jul 22;75(4):395-397.
|
||
Epub 2021 Dec 28
|
||
doi: 10.7883/yoken.JJID.2021.573.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34980705" target="_blank">34980705</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31239091">HIV Initial Assessment and Routine Follow-up: What Tests to Order and Why.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Solomon DA</span><br />
|
||
<span class="medgenPMjournal">Infect Dis Clin North Am</span>
|
||
2019 Sep;33(3):647-662.
|
||
Epub 2019 Jun 22
|
||
doi: 10.1016/j.idc.2019.05.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31239091" target="_blank">31239091</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25488532">Non-infectious respiratory disease in non-HIV immunocompromised patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jose RJ,
|
||
Faiz SA,
|
||
Dickey BF,
|
||
Brown JS</span><br />
|
||
<span class="medgenPMjournal">Br J Hosp Med (Lond)</span>
|
||
2014 Dec;75(12):691-7.
|
||
doi: 10.12968/hmed.2014.75.12.691.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25488532" target="_blank">25488532</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19584457">Crusted scabies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karthikeyan K</span><br />
|
||
<span class="medgenPMjournal">Indian J Dermatol Venereol Leprol</span>
|
||
2009 Jul-Aug;75(4):340-7.
|
||
doi: 10.4103/0378-6323.53128.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19584457" target="_blank">19584457</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3817465">Munchausen's/AIDS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baer JW</span><br />
|
||
<span class="medgenPMjournal">Gen Hosp Psychiatry</span>
|
||
1987 Jan;9(1):75-6.
|
||
doi: 10.1016/0163-8343(87)90106-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3817465" target="_blank">3817465</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2075%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 (4812)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38871570">Switching Human Immunodeficiency Virus Therapy: Basic Principles and Options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bacic Lima D,
|
||
Solomon DA</span><br />
|
||
<span class="medgenPMjournal">Infect Dis Clin North Am</span>
|
||
2024 Sep;38(3):409-422.
|
||
Epub 2024 Jun 12
|
||
doi: 10.1016/j.idc.2024.04.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38871570" target="_blank">38871570</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28870107">Safety and efficacy of cladribine tablets in patients with relapsing-remitting multiple sclerosis: Results from the randomized extension trial of the CLARITY study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giovannoni G,
|
||
Soelberg Sorensen P,
|
||
Cook S,
|
||
Rammohan K,
|
||
Rieckmann P,
|
||
Comi G,
|
||
Dangond F,
|
||
Adeniji AK,
|
||
Vermersch P</span><br />
|
||
<span class="medgenPMjournal">Mult Scler</span>
|
||
2018 Oct;24(12):1594-1604.
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<div class="nl"><a target="_blank" href="/pubmed/11249476">Nelfinavir mesylate.</a></div>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/29787596">Survival and predictors of mortality among children co-infected with tuberculosis and human immunodeficiency virus at University of Gondar Comprehensive Specialized Hospital, Northwest Ethiopia. A retrospective follow-up study.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20055767">Tuberculous meningitis.</a></div>
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2010 Aug;122(2):75-90.
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<div class="nl"><a target="_blank" href="/pubmed/18536891">Perinatal HIV.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Saharan S,
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Lodha R,
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Agarwal R,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2075%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 (3798)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39369446">High malignancy rate in IgE-deficient children.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Uygun DFK,
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Uygun V,
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|
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||
<div class="nl"><a target="_blank" href="/pubmed/37526898">The DoDo experience: an alternative antiretroviral 2-drug regimen of doravirine and dolutegravir.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sammet S,
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Touzeau-Römer V,
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Wolf E,
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Schenk-Westkamp P,
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Romano B,
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Gersbacher E,
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Kastenbauer U,
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<span class="bold">PMID: </span><a href="/pubmed/37526898" target="_blank">37526898</a><a href="/pmc/articles/PMC10665222" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35501264">Pathophysiological mechanism of non-HIV Pneumocystis jirovecii pneumonia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Asai N,
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Motojima S,
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Ohkuni Y,
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Matsunuma R,
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Nakashita T,
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Kaneko N,
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<div class="nl"><a target="_blank" href="/pubmed/28118533">Efficacy and Safety of Subcutaneous Belimumab in Systemic Lupus Erythematosus: A Fifty-Two-Week Randomized, Double-Blind, Placebo-Controlled Study.</a></div>
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Schwarting A,
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<div class="nl"><a target="_blank" href="/pubmed/11059473">Decision analysis with cumulative prospect theory.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bayoumi AM,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2075%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 (4687)</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/37498645">Safety and Efficacy of Long-Acting Injectable Agents for HIV-1: Systematic Review and Meta-Analysis.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang W,
|
||
Zhao S,
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||
Wu Y,
|
||
Duan W,
|
||
Li S,
|
||
Li Z,
|
||
Guo C,
|
||
Wang W,
|
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Zhang T,
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Wu H,
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||
Huang X</span><br />
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<span class="medgenPMjournal">JMIR Public Health Surveill</span>
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2023 Jul 27;9:e46767.
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||
doi: 10.2196/46767.
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||
<span class="bold">PMID: </span><a href="/pubmed/37498645" target="_blank">37498645</a><a href="/pmc/articles/PMC10415942" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33430786">HIV infection and multidrug resistant tuberculosis: a systematic review and meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Sultana ZZ,
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||
Hoque FU,
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||
Beyene J,
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||
Akhlak-Ul-Islam M,
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Khan MHR,
|
||
Ahmed S,
|
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Hawlader DH,
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Hossain A</span><br />
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<span class="medgenPMjournal">BMC Infect Dis</span>
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||
2021 Jan 11;21(1):51.
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||
doi: 10.1186/s12879-020-05749-2.
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||
<span class="bold">PMID: </span><a href="/pubmed/33430786" target="_blank">33430786</a><a href="/pmc/articles/PMC7802168" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30509777">Global and regional molecular epidemiology of HIV-1, 1990-2015: a systematic review, global survey, and trend analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hemelaar J,
|
||
Elangovan R,
|
||
Yun J,
|
||
Dickson-Tetteh L,
|
||
Fleminger I,
|
||
Kirtley S,
|
||
Williams B,
|
||
Gouws-Williams E,
|
||
Ghys PD;
|
||
WHO–UNAIDS Network for HIV Isolation Characterisation</span><br />
|
||
<span class="medgenPMjournal">Lancet Infect Dis</span>
|
||
2019 Feb;19(2):143-155.
|
||
Epub 2018 Nov 30
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||
doi: 10.1016/S1473-3099(18)30647-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30509777" target="_blank">30509777</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29074409">Global prevalence of injecting drug use and sociodemographic characteristics and prevalence of HIV, HBV, and HCV in people who inject drugs: a multistage systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Degenhardt L,
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||
Peacock A,
|
||
Colledge S,
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Leung J,
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||
Grebely J,
|
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Vickerman P,
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||
Stone J,
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||
Cunningham EB,
|
||
Trickey A,
|
||
Dumchev K,
|
||
Lynskey M,
|
||
Griffiths P,
|
||
Mattick RP,
|
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Hickman M,
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||
Larney S</span><br />
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||
<span class="medgenPMjournal">Lancet Glob Health</span>
|
||
2017 Dec;5(12):e1192-e1207.
|
||
Epub 2017 Oct 23
|
||
doi: 10.1016/S2214-109X(17)30375-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29074409" target="_blank">29074409</a><a href="/pmc/articles/PMC5683738" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27121755">Corticosteroids for managing tuberculous meningitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prasad K,
|
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Singh MB,
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||
Ryan H</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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2016 Apr 28;4(4):CD002244.
|
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||
<span class="bold">PMID: </span><a href="/pubmed/27121755" target="_blank">27121755</a><a href="/pmc/articles/PMC4916936" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2075%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 (305)</a></div></div>
|
||
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|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5436860%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
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<li><a href="/gtr/tests?term=C5436860%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
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<li><a href="/gtr/tests?term=C5436860%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5436860%5bDISCUI%5d" target="_blank">See all (8)</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=(immunodeficiency%2075)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Immunodeficiency%2075%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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