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<meta name="keywords" content="C1970879, atypical mycobacteriosis, familial, x-linked 1, disease or syndrome, familial x-linked 1 atypical mycobacteriosis, ikbkg, ikbkg invasive pneumococcal disease, recurrent isolated, ikbkg x-linked mendelian susceptibility to mycobacterial diseases, imd33, immunodeficiency 33, immunodeficiency 33, mycobacteriosis, x-linked, immunodeficiency 33, x-linked recessive, immunodeficiency type 33, immunodeficiency without anhidrotic ectodermal dysplasia, immunodeficiency, isolated, immunodeficiency, pure, invasive pneumococcal disease, recurrent isolated caused by mutation in ikbkg, invasive pneumococcal disease, recurrent isolated, 2, invasive pneumococcal disease, recurrent isolated, 2, formerly, invasive pneumococcal disease, recurrent isolated, type 2, ipd2, ipd2, formerly, nemo deficiency syndrome, nf-kappa b essential modulator deficiency, x-linked mendelian susceptibility to mycobacterial diseases caused by mutation in ikbkg, x-linked mendelian susceptibility to mycobacterial diseases due to ikbkg deficiency, x-linked mendelian susceptibility to mycobacterial diseases due to nemo deficiency, x-linked msmd due to ikbkg deficiency, x-linked msmd due to nemo deficiency, 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-33 (IMD33) is an X-linked recessive disorder that affects only males. It is characterized by early-onset severe infections, usually due to pneumococcus, H. influenzae, and atypical mycobacteria, although other organisms have also been detected. Immunologic investigations may show variable abnormalities or may be normal. Disturbances include dysgammaglobulinemia with hypogammaglobulinemia, decreased IgG2, aberrant levels of IgM and IgA, and decreased class-switched memory B cells. There is often poor, but variable, response to vaccination; in particular, most patients do not develop antibodies to certain polysaccharide vaccines, notably pneumococcus. Other immunologic abnormalities may include impaired NK cytotoxic function, impaired cytokine production upon stimulation with IL1B (147720) or TNFA (191160), low IL6 (147620), low IL12 (see 161561), and decreased IFNG (147570). Patients do not have overt abnormalities of T-cell proliferation, although signaling pathways, such as CD40LG (300386)/CD40 (109535), may be disturbed. There is heterogeneity in the immunologic phenotype, resulting in highly variable clinical courses, most likely due to the different effects of hypomorphic mutations. Treatment with antibiotics and IVIg is usually beneficial; hematopoietic stem cell transplantation may not be necessary, but can be effective. Features of hypohidrotic ectodermal dysplasia are generally not present, although some patients may have conical teeth or hypodontia (summary by Orange et al., 2004, Filipe-Santos et al., 2006, Salt et al., 2008, Heller et al., 2020)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=370376
|
||
ConceptID=C1970879
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Immunodeficiency 33<span class="h1sub">(IMD33)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370376</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.">C1970879</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>IMD33; Immunodeficiency without anhidrotic ectodermal dysplasia; X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency</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="IKBKG - ID: 8517 - NCBI Gene" href="/gene/8517" class="medgenPMinfo">IKBKG</a> (Xq28)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010386" target="_blank">MONDO:0010386</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/300636" target="_blank">300636</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-33 (IMD33) is an X-linked recessive disorder that affects only males. It is characterized by early-onset severe infections, usually due to pneumococcus, H. influenzae, and atypical mycobacteria, although other organisms have also been detected. Immunologic investigations may show variable abnormalities or may be normal. Disturbances include dysgammaglobulinemia with hypogammaglobulinemia, decreased IgG2, aberrant levels of IgM and IgA, and decreased class-switched memory B cells. There is often poor, but variable, response to vaccination; in particular, most patients do not develop antibodies to certain polysaccharide vaccines, notably pneumococcus. Other immunologic abnormalities may include impaired NK cytotoxic function, impaired cytokine production upon stimulation with IL1B (147720) or TNFA (191160), low IL6 (147620), low IL12 (see 161561), and decreased IFNG (147570). Patients do not have overt abnormalities of T-cell proliferation, although signaling pathways, such as CD40LG (300386)/CD40 (109535), may be disturbed. There is heterogeneity in the immunologic phenotype, resulting in highly variable clinical courses, most likely due to the different effects of hypomorphic mutations. Treatment with antibiotics and IVIg is usually beneficial; hematopoietic stem cell transplantation may not be necessary, but can be effective. Features of hypohidrotic ectodermal dysplasia are generally not present, although some patients may have conical teeth or hypodontia (summary by Orange et al., 2004, Filipe-Santos et al., 2006, Salt et al., 2008, Heller et al., 2020). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_7034"><div><strong>Immunodeficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7034</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.">C0021051</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7034">Feature record</a> | <a href="/medgen?term=%22Immunodeficiency%22%5BClinical%20Features%5D%20OR%207034%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) 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_116095"><div><strong>Decreased circulating total IgM</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116095</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0239989</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased level of immunoglobulin M (IgM) in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116095">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20total%20IgM%22%5BClinical%20Features%5D%20OR%20116095%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_777048"><div><strong>Pneumocystosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>777048</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.">C1535939</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/777048">Feature record</a> | <a href="/medgen?term=%22Pneumocystosis%22%5BClinical%20Features%5D%20OR%20777048%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334943"><div><strong>Recurrent bacterial infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334943</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.">C1844383</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334943">Feature record</a> | <a href="/medgen?term=%22Recurrent%20bacterial%20infections%22%5BClinical%20Features%5D%20OR%20334943%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1687715"><div><strong>Disseminated nontuberculous mycobacterial infection</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1687715</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.">C5139240</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1687715">Feature record</a> | <a href="/medgen?term=%22Disseminated%20nontuberculous%20mycobacterial%20infection%22%5BClinical%20Features%5D%20OR%201687715%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43794"><div><strong>Hypodontia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43794</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.">C0020608</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see 114600 and 302400. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978). Genetic Heterogeneity of Selective Tooth Agenesis Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by mutation in the WNT10A gene (606268) on chromosome 2q35; STHAG5 (610926), mapped to chromosome 10q11; STHAG7 (616724), caused by mutation in the LRP6 gene (603507) on chromosome 12p13; STHAG8 (617073), caused by mutation in the WNT10B gene (601906) on chromosome 12q13; STHAG9 (617275), caused by mutation in the GREM2 gene (608832) on chromosome 1q43; STHAG10 (620173), caused by mutation in the TSPEAR gene (612920) on chromosome 21q22; and STHAGX1 (313500), caused by mutation in the EDA gene (300451) on chromosome Xq13. A type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; 601216). Of 34 unrelated patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. Genotype-Phenotype Correlations Yu et al. (2016) observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43794">Feature record</a> | <a href="/medgen?term=%22Hypodontia%22%5BClinical%20Features%5D%20OR%2043794%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68678"><div><strong>Delayed eruption of teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68678</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.">C0239174</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68678">Feature record</a> | <a href="/medgen?term=%22Delayed%20eruption%20of%20teeth%22%5BClinical%20Features%5D%20OR%2068678%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82730"><div><strong>Conical tooth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82730</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.">C0266037</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82730">Feature record</a> | <a href="/medgen?term=%22Conical%20tooth%22%5BClinical%20Features%5D%20OR%2082730%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Conical tooth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68678" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed eruption of teeth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypodontia</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_116095" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating total IgM</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1687715" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Disseminated nontuberculous mycobacterial infection</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency</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_777048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pneumocystosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent bacterial infections</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31255384">Management of Virologic Failure and HIV Drug Resistance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McCluskey SM,
|
||
Siedner MJ,
|
||
Marconi VC</span><br />
|
||
<span class="medgenPMjournal">Infect Dis Clin North Am</span>
|
||
2019 Sep;33(3):707-742.
|
||
Epub 2019 Jun 27
|
||
doi: 10.1016/j.idc.2019.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31255384" target="_blank">31255384</a><a href="/pmc/articles/PMC6688946" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30945360">Position statement: LEPROSY: Diagnosis, treatment and follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alemu Belachew W,
|
||
Naafs B</span><br />
|
||
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
|
||
2019 Jul;33(7):1205-1213.
|
||
Epub 2019 Apr 3
|
||
doi: 10.1111/jdv.15569.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30945360" target="_blank">30945360</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24907868">HIV infection: epidemiology, pathogenesis, treatment, and prevention.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maartens G,
|
||
Celum C,
|
||
Lewin SR</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2014 Jul 19;384(9939):258-71.
|
||
Epub 2014 Jun 5
|
||
doi: 10.1016/S0140-6736(14)60164-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24907868" target="_blank">24907868</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(immunodeficiency%2033)%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 (1485)</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/36228738">Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leiding JW,
|
||
Vogel TP,
|
||
Santarlas VGJ,
|
||
Mhaskar R,
|
||
Smith MR,
|
||
Carisey A,
|
||
Vargas-Hernández A,
|
||
Silva-Carmona M,
|
||
Heeg M,
|
||
Rensing-Ehl A,
|
||
Neven B,
|
||
Hadjadj J,
|
||
Hambleton S,
|
||
Ronan Leahy T,
|
||
Meesilpavikai K,
|
||
Cunningham-Rundles C,
|
||
Dutmer CM,
|
||
Sharapova SO,
|
||
Taskinen M,
|
||
Chua I,
|
||
Hague R,
|
||
Klemann C,
|
||
Kostyuchenko L,
|
||
Morio T,
|
||
Thatayatikom A,
|
||
Ozen A,
|
||
Scherbina A,
|
||
Bauer CS,
|
||
Flanagan SE,
|
||
Gambineri E,
|
||
Giovannini-Chami L,
|
||
Heimall J,
|
||
Sullivan KE,
|
||
Allenspach E,
|
||
Romberg N,
|
||
Deane SG,
|
||
Prince BT,
|
||
Rose MJ,
|
||
Bohnsack J,
|
||
Mousallem T,
|
||
Jesudas R,
|
||
Santos Vilela MMD,
|
||
O'Sullivan M,
|
||
Pachlopnik Schmid J,
|
||
Průhová Š,
|
||
Klocperk A,
|
||
Rees M,
|
||
Su H,
|
||
Bahna S,
|
||
Baris S,
|
||
Bartnikas LM,
|
||
Chang Berger A,
|
||
Briggs TA,
|
||
Brothers S,
|
||
Bundy V,
|
||
Chan AY,
|
||
Chandrakasan S,
|
||
Christiansen M,
|
||
Cole T,
|
||
Cook MC,
|
||
Desai MM,
|
||
Fischer U,
|
||
Fulcher DA,
|
||
Gallo S,
|
||
Gauthier A,
|
||
Gennery AR,
|
||
Gonçalo Marques J,
|
||
Gottrand F,
|
||
Grimbacher B,
|
||
Grunebaum E,
|
||
Haapaniemi E,
|
||
Hämäläinen S,
|
||
Heiskanen K,
|
||
Heiskanen-Kosma T,
|
||
Hoffman HM,
|
||
Gonzalez-Granado LI,
|
||
Guerrerio AL,
|
||
Kainulainen L,
|
||
Kumar A,
|
||
Lawrence MG,
|
||
Levin C,
|
||
Martelius T,
|
||
Neth O,
|
||
Olbrich P,
|
||
Palma A,
|
||
Patel NC,
|
||
Pozos T,
|
||
Preece K,
|
||
Lugo Reyes SO,
|
||
Russell MA,
|
||
Schejter Y,
|
||
Seroogy C,
|
||
Sinclair J,
|
||
Skevofilax E,
|
||
Suan D,
|
||
Suez D,
|
||
Szabolcs P,
|
||
Velasco H,
|
||
Warnatz K,
|
||
Walkovich K,
|
||
Worth A;
|
||
STAT3 GOF Working Group members,
|
||
Seppänen MRJ,
|
||
Torgerson TR,
|
||
Sogkas G,
|
||
Ehl S,
|
||
Tangye SG,
|
||
Cooper MA,
|
||
Milner JD,
|
||
Forbes Satter LR</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2023 Apr;151(4):1081-1095.
|
||
Epub 2022 Oct 11
|
||
doi: 10.1016/j.jaci.2022.09.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36228738" target="_blank">36228738</a><a href="/pmc/articles/PMC10081938" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30800120">The Expanding Field of Secondary Antibody Deficiency: Causes, Diagnosis, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel SY,
|
||
Carbone J,
|
||
Jolles S</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2019;10:33.
|
||
Epub 2019 Feb 8
|
||
doi: 10.3389/fimmu.2019.00033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30800120" target="_blank">30800120</a><a href="/pmc/articles/PMC6376447" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26829289">Microbicide vaginal rings: Technological challenges and clinical development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malcolm RK,
|
||
Boyd PJ,
|
||
McCoy CF,
|
||
Murphy DJ</span><br />
|
||
<span class="medgenPMjournal">Adv Drug Deliv Rev</span>
|
||
2016 Aug 1;103:33-56.
|
||
Epub 2016 Jan 30
|
||
doi: 10.1016/j.addr.2016.01.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26829289" target="_blank">26829289</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25706097">The immunology of Epstein-Barr virus-induced disease.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23337065">The overlap of bronchiectasis and immunodeficiency with asthma.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25706097">The immunology of Epstein-Barr virus-induced disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Taylor GS,
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Long HM,
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Brooks JM,
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<div class="nl"><a target="_blank" href="/pubmed/8929954">Nijmegen breakage syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">van der Burgt I,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2033%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 (6997)</a></div><h3 class="subhead">Therapy</h3>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/37676656">The Global, Regional, and National Burden of Adult Lip, Oral, and Pharyngeal Cancer in 204 Countries and Territories: A Systematic Analysis for the Global Burden of Disease Study 2019.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">GBD 2019 Lip, Oral, and Pharyngeal Cancer Collaborators,
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Cunha ARD,
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Mishra R,
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<span class="medgenPMjournal">JAMA Oncol</span>
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2023 Oct 1;9(10):1401-1416.
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doi: 10.1001/jamaoncol.2023.2960.
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<span class="bold">PMID: </span><a href="/pubmed/37676656" target="_blank">37676656</a><a href="/pmc/articles/PMC10485745" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<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,
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Zhao S,
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Wu Y,
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Duan W,
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Li S,
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Li Z,
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Guo C,
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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/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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wu S,
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Wang J,
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Guo Q,
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Lan H,
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Sun Y,
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Ren M,
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Liu Y,
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Wang P,
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Wang L,
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Su R,
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Zhang J,
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Chen Y,
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Li G</span><br />
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<span class="medgenPMjournal">Clin Microbiol Infect</span>
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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/33212031">Estimates of the global burden of cervical cancer associated with HIV.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Stelzle D,
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Tanaka LF,
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Lee KK,
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Ibrahim Khalil A,
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Baussano I,
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Bray F,
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Baggaley R,
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Dalal S</span><br />
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<span class="medgenPMjournal">Lancet Glob Health</span>
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2021 Feb;9(2):e161-e169.
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Epub 2020 Nov 16
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doi: 10.1016/S2214-109X(20)30459-9.
|
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<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/30624309">High Global Burden and Costs of Bacterial Vaginosis: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peebles K,
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Velloza J,
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Balkus JE,
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McClelland RS,
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Barnabas RV</span><br />
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<span class="medgenPMjournal">Sex Transm Dis</span>
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2019 May;46(5):304-311.
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<span class="bold">PMID: </span><a href="/pubmed/30624309" target="_blank">30624309</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2033%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 (470)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1970879%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C1970879%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C1970879%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1970879%5bDISCUI%5d" target="_blank">See all (23)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=300636" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Immunodeficiency%2033" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(immunodeficiency%2033)%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%2033%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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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Immunodeficiency+without+anhidrotic+ectodermal+dysplasia/3781" target="_blank">Genetic Alliance</a></li><li><a href="http://www.diseaseinfosearch.org/X-linked+familial+atypical+mycobacteriosis%2C+type+1/9486" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/immunodeficiency_33" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Immunodeficiency%2033" target="_blank">MedlinePlus</a></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d62e6f84f3725e59560aac">Immunodeficiency 33</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d62e692f30673f7b1f4347">Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive</a>
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<div class="ralinkpop offscreen_noflow">Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d62e6684f3725e5955ecbb">Ectodermal dysplasia and immunodeficiency 1</a>
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<div class="ralinkpop offscreen_noflow">Ectodermal dysplasia and immunodeficiency 1<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d62e61cde49f3df704370b">Ectodermal dysplasia and immunodeficiency 2</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d62e5c2f30673f7b1f0bf2">Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant</a>
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<div class="ralinkpop offscreen_noflow">Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant<div class="brieflinkpopdesc"></div></div>
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