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<meta name="keywords" content="C5848786, disease or syndrome, hies6, hyper-ige syndrome 6, autosomal dominant, with recurrent infections, stat6, 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="Hyper-IgE syndrome-6 with recurrent infections (HIES6) is an autosomal dominant immunologic disorder characterized by early-childhood onset of severe refractory atopic dermatitis, IgE-mediated food and drug allergies, asthma, and eosinophilic esophagitis. Laboratory studies show increased serum IgE levels and eosinophilia. Affected individuals are susceptible to life-threatening anaphylaxis. Additional features may include allergic rhinitis, recurrent secondary infections (bacterial, viral, fungal), and short stature. Rare patients show intracerebral vascular abnormalities, including the Circle of Willis, increased risk of ruptured aneurysm, and B-cell lymphoma. The disorder results from immune dysregulation with inappropriate activation of inflammatory signaling pathways associated with a Th2 phenotype. Treatment with an IL4 (147780)/IL13 (147683) inhibitor (dupilumab) or JAK inhibitor results in clinical improvement. Sharma et al. (2023) classified this disease as a 'primary atopic disorder' (PAD). For a discussion of genetic heterogeneity of hyper-IgE syndrome, see HIES1 (147060)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1851769
|
||
ConceptID=C5848786
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections<span class="h1sub">(HIES6)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1851769</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:">C5848786</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>HIES6</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="STAT6 - ID: 6778 - NCBI Gene" href="/gene/6778" class="medgenPMinfo">STAT6</a> (12q13.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0957807" target="_blank">MONDO:0957807</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620532" target="_blank">620532</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">Hyper-IgE syndrome-6 with recurrent infections (HIES6) is an autosomal dominant immunologic disorder characterized by early-childhood onset of severe refractory atopic dermatitis, IgE-mediated food and drug allergies, asthma, and eosinophilic esophagitis. Laboratory studies show increased serum IgE levels and eosinophilia. Affected individuals are susceptible to life-threatening anaphylaxis. Additional features may include allergic rhinitis, recurrent secondary infections (bacterial, viral, fungal), and short stature. Rare patients show intracerebral vascular abnormalities, including the Circle of Willis, increased risk of ruptured aneurysm, and B-cell lymphoma. The disorder results from immune dysregulation with inappropriate activation of inflammatory signaling pathways associated with a Th2 phenotype. Treatment with an IL4 (147780)/IL13 (147683) inhibitor (dupilumab) or JAK inhibitor results in clinical improvement. Sharma et al. (2023) classified this disease as a 'primary atopic disorder' (PAD). For a discussion of genetic heterogeneity of hyper-IgE syndrome, see HIES1 (147060). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</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_86953"><div><strong>B-cell lymphoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>86953</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0079731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of lymphoma that originates in B-cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/86953">Feature record</a> | <a href="/medgen?term=%22B-cell%20lymphoma%22%5BClinical%20Features%5D%20OR%2086953%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220382"><div><strong>Eosinophilic gastroenteritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220382</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.">C1262481</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220382">Feature record</a> | <a href="/medgen?term=%22Eosinophilic%20gastroenteritis%22%5BClinical%20Features%5D%20OR%20220382%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1368658"><div><strong>Gastroesophageal reflux</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1368658</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.">C4317146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1368658">Feature record</a> | <a href="/medgen?term=%22Gastroesophageal%20reflux%22%5BClinical%20Features%5D%20OR%201368658%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1637185"><div><strong>Eosinophilic infiltration of the esophagus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1637185</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.">C4703646</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1637185">Feature record</a> | <a href="/medgen?term=%22Eosinophilic%20infiltration%20of%20the%20esophagus%22%5BClinical%20Features%5D%20OR%201637185%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14535"><div><strong>Osteoporosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14535</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.">C0029456</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14535">Feature record</a> | <a href="/medgen?term=%22Osteoporosis%22%5BClinical%20Features%5D%20OR%2014535%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_2109"><div><strong>Asthma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2109</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.">C0004096</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2109">Feature record</a> | <a href="/medgen?term=%22Asthma%22%5BClinical%20Features%5D%20OR%202109%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41502"><div><strong>Atopic eczema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41502</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.">C0011615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atopic dermatitis (ATOD), also known as eczema, is a common chronic pruritic inflammatory skin disease with a strong genetic component. Onset typically occurs during the first 2 years of life (review by Soderhall et al., 2007). Genetic Heterogeneity of Atopic Dermatitis Many inflammatory diseases, such as atopic eczema, are genetically complex, with multiple alleles at several loci thought to be involved in their pathogenesis. Several susceptibility loci for atopic dermatitis have been identified: ATOD1 on chromosome 3q21, ATOD2 (605803) on chromosome 1q21, ATOD3 (605804) on chromosome 20p, ATOD4 (605805) on chromosome 17q25.3, ATOD5 (603165) on chromosome 13q12-q14, ATOD6 (605845) on chromosome 5q31-q33, ATOD7 (613064) on chromosome 11q13.5, ATOD8 (613518) on chromosome 4q22.1, and ATOD9 (613519) on chromosome 3p24.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41502">Feature record</a> | <a href="/medgen?term=%22Atopic%20eczema%22%5BClinical%20Features%5D%20OR%2041502%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41824"><div><strong>Eosinophilia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41824</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.">C0014457</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased count of eosinophils in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41824">Feature record</a> | <a href="/medgen?term=%22Eosinophilia%22%5BClinical%20Features%5D%20OR%2041824%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116018"><div><strong>Increased circulating IgE concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116018</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.">C0236175</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased overall level of immunoglobulin E in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116018">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20IgE%20concentration%22%5BClinical%20Features%5D%20OR%20116018%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332357"><div><strong>Recurrent viral infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332357</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.">C1837066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332357">Feature record</a> | <a href="/medgen?term=%22Recurrent%20viral%20infections%22%5BClinical%20Features%5D%20OR%20332357%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_377848"><div><strong>Recurrent skin infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377848</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.">C1853193</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infections of the skin that happen multiple times.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/377848">Feature record</a> | <a href="/medgen?term=%22Recurrent%20skin%20infections%22%5BClinical%20Features%5D%20OR%20377848%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1373755"><div><strong>Anaphylactic shock</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1373755</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.">C4316895</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An acute hypersensitivity reaction due to exposure to a previously encountered antigen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1373755">Feature record</a> | <a href="/medgen?term=%22Anaphylactic%20shock%22%5BClinical%20Features%5D%20OR%201373755%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1635115"><div><strong>Food allergy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1635115</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.">C4554344</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1635115">Feature record</a> | <a href="/medgen?term=%22Food%20allergy%22%5BClinical%20Features%5D%20OR%201635115%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 the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220382" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eosinophilic gastroenteritis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1637185" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eosinophilic infiltration of the esophagus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1368658" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastroesophageal reflux</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_1373755" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anaphylactic shock</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2109" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Asthma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41502" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atopic eczema</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41824" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eosinophilia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1635115" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Food allergy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116018" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating IgE concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_377848" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent skin infections</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332357" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent viral infections</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoporosis</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_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">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_86953" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">B-cell lymphoma</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
<div class="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/35734823">Clearance of atypical cutaneous manifestations of hyper-IgE syndrome with dupilumab.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nihal A,
|
||
Comstock JR,
|
||
Holland KE,
|
||
Singh AM,
|
||
Seroogy CM,
|
||
Arkin LM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2022 Nov;39(6):940-942.
|
||
Epub 2022 Jun 22
|
||
doi: 10.1111/pde.15072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35734823" target="_blank">35734823</a><a href="/pmc/articles/PMC10084161" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30878710">Spectrum of Pulmonary Aspergillosis in Hyper-IgE Syndrome with Autosomal-Dominant STAT3 Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duréault A,
|
||
Tcherakian C,
|
||
Poiree S,
|
||
Catherinot E,
|
||
Danion F,
|
||
Jouvion G,
|
||
Bougnoux ME,
|
||
Mahlaoui N,
|
||
Givel C,
|
||
Castelle M,
|
||
Picard C,
|
||
Chansdesris MO,
|
||
Lortholary O,
|
||
Lanternier F;
|
||
French Mycoses Study Group</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2019 Jul-Aug;7(6):1986-1995.e3.
|
||
Epub 2019 Mar 13
|
||
doi: 10.1016/j.jaip.2019.02.041.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30878710" target="_blank">30878710</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22751495">Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chandesris MO,
|
||
Melki I,
|
||
Natividad A,
|
||
Puel A,
|
||
Fieschi C,
|
||
Yun L,
|
||
Thumerelle C,
|
||
Oksenhendler E,
|
||
Boutboul D,
|
||
Thomas C,
|
||
Hoarau C,
|
||
Lebranchu Y,
|
||
Stephan JL,
|
||
Cazorla C,
|
||
Aladjidi N,
|
||
Micheau M,
|
||
Tron F,
|
||
Baruchel A,
|
||
Barlogis V,
|
||
Palenzuela G,
|
||
Mathey C,
|
||
Dominique S,
|
||
Body G,
|
||
Munzer M,
|
||
Fouyssac F,
|
||
Jaussaud R,
|
||
Bader-Meunier B,
|
||
Mahlaoui N,
|
||
Blanche S,
|
||
Debré M,
|
||
Le Bourgeois M,
|
||
Gandemer V,
|
||
Lambert N,
|
||
Grandin V,
|
||
Ndaga S,
|
||
Jacques C,
|
||
Harre C,
|
||
Forveille M,
|
||
Alyanakian MA,
|
||
Durandy A,
|
||
Bodemer C,
|
||
Suarez F,
|
||
Hermine O,
|
||
Lortholary O,
|
||
Casanova JL,
|
||
Fischer A,
|
||
Picard C</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2012 Jul;91(4):e1-e19.
|
||
doi: 10.1097/MD.0b013e31825f95b9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22751495" target="_blank">22751495</a><a href="/pmc/articles/PMC3680355" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19577286">Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al Khatib S,
|
||
Keles S,
|
||
Garcia-Lloret M,
|
||
Karakoc-Aydiner E,
|
||
Reisli I,
|
||
Artac H,
|
||
Camcioglu Y,
|
||
Cokugras H,
|
||
Somer A,
|
||
Kutukculer N,
|
||
Yilmaz M,
|
||
Ikinciogullari A,
|
||
Yegin O,
|
||
Yüksek M,
|
||
Genel F,
|
||
Kucukosmanoglu E,
|
||
Baki A,
|
||
Bahceciler NN,
|
||
Rambhatla A,
|
||
Nickerson DW,
|
||
McGhee S,
|
||
Barlan IB,
|
||
Chatila T</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2009 Aug;124(2):342-8, 348.e1-5.
|
||
Epub 2009 Jul 3
|
||
doi: 10.1016/j.jaci.2009.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19577286" target="_blank">19577286</a><a href="/pmc/articles/PMC2828264" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10053178">Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grimbacher B,
|
||
Holland SM,
|
||
Gallin JI,
|
||
Greenberg F,
|
||
Hill SC,
|
||
Malech HL,
|
||
Miller JA,
|
||
O'Connell AC,
|
||
Puck JM</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1999 Mar 4;340(9):692-702.
|
||
doi: 10.1056/NEJM199903043400904.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10053178" target="_blank">10053178</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyper-IgE%20syndrome%206%2C%20autosomal%20dominant%2C%20with%20recurrent%20infections%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37935849">Primary immunodeficiency diseases of adults: a review of pulmonary complication imaging findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grenier PA,
|
||
Brun AL,
|
||
Longchampt E,
|
||
Lipski M,
|
||
Mellot F,
|
||
Catherinot E</span><br />
|
||
<span class="medgenPMjournal">Eur Radiol</span>
|
||
2024 Jun;34(6):4142-4154.
|
||
Epub 2023 Nov 8
|
||
doi: 10.1007/s00330-023-10334-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37935849" target="_blank">37935849</a><a href="/pmc/articles/PMC11166740" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35734823">Clearance of atypical cutaneous manifestations of hyper-IgE syndrome with dupilumab.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nihal A,
|
||
Comstock JR,
|
||
Holland KE,
|
||
Singh AM,
|
||
Seroogy CM,
|
||
Arkin LM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2022 Nov;39(6):940-942.
|
||
Epub 2022 Jun 22
|
||
doi: 10.1111/pde.15072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35734823" target="_blank">35734823</a><a href="/pmc/articles/PMC10084161" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30878710">Spectrum of Pulmonary Aspergillosis in Hyper-IgE Syndrome with Autosomal-Dominant STAT3 Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duréault A,
|
||
Tcherakian C,
|
||
Poiree S,
|
||
Catherinot E,
|
||
Danion F,
|
||
Jouvion G,
|
||
Bougnoux ME,
|
||
Mahlaoui N,
|
||
Givel C,
|
||
Castelle M,
|
||
Picard C,
|
||
Chansdesris MO,
|
||
Lortholary O,
|
||
Lanternier F;
|
||
French Mycoses Study Group</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2019 Jul-Aug;7(6):1986-1995.e3.
|
||
Epub 2019 Mar 13
|
||
doi: 10.1016/j.jaip.2019.02.041.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30878710" target="_blank">30878710</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30732127">Hyper IgE syndrome associated with novel and recurrent STAT3 mutations: Two case reports.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deng Y,
|
||
Li T,
|
||
Xie X,
|
||
Xia D,
|
||
Ding L,
|
||
Xiang H,
|
||
Ma JJ,
|
||
Li W</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2019 Feb;98(6):e14003.
|
||
doi: 10.1097/MD.0000000000014003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30732127" target="_blank">30732127</a><a href="/pmc/articles/PMC6380800" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28197791">Clinical Manifestations and Genetic Analysis of 17 Patients with Autosomal Dominant Hyper-IgE Syndrome in Mainland China: New Reports and a Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu J,
|
||
Chen J,
|
||
Tian ZQ,
|
||
Zhang H,
|
||
Gong RL,
|
||
Chen TX,
|
||
Hong L</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2017 Feb;37(2):166-179.
|
||
Epub 2017 Feb 14
|
||
doi: 10.1007/s10875-017-0369-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28197791" target="_blank">28197791</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyper-IgE%20syndrome%206%2C%20autosomal%20dominant%2C%20with%20recurrent%20infections%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 (10)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36937610">A Young Woman with Autosomal Dominant Hyper Immunoglobulin E (job's) Syndrome Presenting with Acute Abdomen: a Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verras GG,
|
||
Mulita F,
|
||
Chlorogiannis DD,
|
||
Liolis E,
|
||
Perdikaris I,
|
||
Perdikaris P,
|
||
Bouchagie K,
|
||
Akrida I</span><br />
|
||
<span class="medgenPMjournal">Med Arch</span>
|
||
2022 Dec;76(6):476-479.
|
||
doi: 10.5455/medarh.2022.76.476-479.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36937610" target="_blank">36937610</a><a href="/pmc/articles/PMC10019861" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30878710">Spectrum of Pulmonary Aspergillosis in Hyper-IgE Syndrome with Autosomal-Dominant STAT3 Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duréault A,
|
||
Tcherakian C,
|
||
Poiree S,
|
||
Catherinot E,
|
||
Danion F,
|
||
Jouvion G,
|
||
Bougnoux ME,
|
||
Mahlaoui N,
|
||
Givel C,
|
||
Castelle M,
|
||
Picard C,
|
||
Chansdesris MO,
|
||
Lortholary O,
|
||
Lanternier F;
|
||
French Mycoses Study Group</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2019 Jul-Aug;7(6):1986-1995.e3.
|
||
Epub 2019 Mar 13
|
||
doi: 10.1016/j.jaip.2019.02.041.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30878710" target="_blank">30878710</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30732127">Hyper IgE syndrome associated with novel and recurrent STAT3 mutations: Two case reports.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deng Y,
|
||
Li T,
|
||
Xie X,
|
||
Xia D,
|
||
Ding L,
|
||
Xiang H,
|
||
Ma JJ,
|
||
Li W</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2019 Feb;98(6):e14003.
|
||
doi: 10.1097/MD.0000000000014003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30732127" target="_blank">30732127</a><a href="/pmc/articles/PMC6380800" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24402620">Bone density and fractures in autosomal dominant hyper IgE syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sowerwine KJ,
|
||
Shaw PA,
|
||
Gu W,
|
||
Ling JC,
|
||
Collins MT,
|
||
Darnell DN,
|
||
Anderson VL,
|
||
Davis J,
|
||
Hsu A,
|
||
Welch P,
|
||
Puck JM,
|
||
Holland SM,
|
||
Freeman AF</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2014 Feb;34(2):260-4.
|
||
Epub 2014 Jan 9
|
||
doi: 10.1007/s10875-013-9982-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24402620" target="_blank">24402620</a><a href="/pmc/articles/PMC4484798" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyper-IgE%20syndrome%206%2C%20autosomal%20dominant%2C%20with%20recurrent%20infections%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36937610">A Young Woman with Autosomal Dominant Hyper Immunoglobulin E (job's) Syndrome Presenting with Acute Abdomen: a Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verras GG,
|
||
Mulita F,
|
||
Chlorogiannis DD,
|
||
Liolis E,
|
||
Perdikaris I,
|
||
Perdikaris P,
|
||
Bouchagie K,
|
||
Akrida I</span><br />
|
||
<span class="medgenPMjournal">Med Arch</span>
|
||
2022 Dec;76(6):476-479.
|
||
doi: 10.5455/medarh.2022.76.476-479.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36937610" target="_blank">36937610</a><a href="/pmc/articles/PMC10019861" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22751495">Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chandesris MO,
|
||
Melki I,
|
||
Natividad A,
|
||
Puel A,
|
||
Fieschi C,
|
||
Yun L,
|
||
Thumerelle C,
|
||
Oksenhendler E,
|
||
Boutboul D,
|
||
Thomas C,
|
||
Hoarau C,
|
||
Lebranchu Y,
|
||
Stephan JL,
|
||
Cazorla C,
|
||
Aladjidi N,
|
||
Micheau M,
|
||
Tron F,
|
||
Baruchel A,
|
||
Barlogis V,
|
||
Palenzuela G,
|
||
Mathey C,
|
||
Dominique S,
|
||
Body G,
|
||
Munzer M,
|
||
Fouyssac F,
|
||
Jaussaud R,
|
||
Bader-Meunier B,
|
||
Mahlaoui N,
|
||
Blanche S,
|
||
Debré M,
|
||
Le Bourgeois M,
|
||
Gandemer V,
|
||
Lambert N,
|
||
Grandin V,
|
||
Ndaga S,
|
||
Jacques C,
|
||
Harre C,
|
||
Forveille M,
|
||
Alyanakian MA,
|
||
Durandy A,
|
||
Bodemer C,
|
||
Suarez F,
|
||
Hermine O,
|
||
Lortholary O,
|
||
Casanova JL,
|
||
Fischer A,
|
||
Picard C</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2012 Jul;91(4):e1-e19.
|
||
doi: 10.1097/MD.0b013e31825f95b9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22751495" target="_blank">22751495</a><a href="/pmc/articles/PMC3680355" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17881745">STAT3 mutations in the hyper-IgE syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holland SM,
|
||
DeLeo FR,
|
||
Elloumi HZ,
|
||
Hsu AP,
|
||
Uzel G,
|
||
Brodsky N,
|
||
Freeman AF,
|
||
Demidowich A,
|
||
Davis J,
|
||
Turner ML,
|
||
Anderson VL,
|
||
Darnell DN,
|
||
Welch PA,
|
||
Kuhns DB,
|
||
Frucht DM,
|
||
Malech HL,
|
||
Gallin JI,
|
||
Kobayashi SD,
|
||
Whitney AR,
|
||
Voyich JM,
|
||
Musser JM,
|
||
Woellner C,
|
||
Schäffer AA,
|
||
Puck JM,
|
||
Grimbacher B</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2007 Oct 18;357(16):1608-19.
|
||
Epub 2007 Sep 19
|
||
doi: 10.1056/NEJMoa073687.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17881745" target="_blank">17881745</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16704563">Critical aneurysmal dilatation of the thoracic aorta in young adolescents with variant hyperimmunoglobulin E syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der meer JW,
|
||
Weemaes CM,
|
||
van Krieken JH,
|
||
Blomjous CE,
|
||
van Die CE,
|
||
Netea MG,
|
||
Bredie SJ</span><br />
|
||
<span class="medgenPMjournal">J Intern Med</span>
|
||
2006 Jun;259(6):615-8.
|
||
doi: 10.1111/j.1365-2796.2006.01653.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16704563" target="_blank">16704563</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyper-IgE%20syndrome%206%2C%20autosomal%20dominant%2C%20with%20recurrent%20infections%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37935849">Primary immunodeficiency diseases of adults: a review of pulmonary complication imaging findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grenier PA,
|
||
Brun AL,
|
||
Longchampt E,
|
||
Lipski M,
|
||
Mellot F,
|
||
Catherinot E</span><br />
|
||
<span class="medgenPMjournal">Eur Radiol</span>
|
||
2024 Jun;34(6):4142-4154.
|
||
Epub 2023 Nov 8
|
||
doi: 10.1007/s00330-023-10334-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37935849" target="_blank">37935849</a><a href="/pmc/articles/PMC11166740" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28197791">Clinical Manifestations and Genetic Analysis of 17 Patients with Autosomal Dominant Hyper-IgE Syndrome in Mainland China: New Reports and a Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu J,
|
||
Chen J,
|
||
Tian ZQ,
|
||
Zhang H,
|
||
Gong RL,
|
||
Chen TX,
|
||
Hong L</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2017 Feb;37(2):166-179.
|
||
Epub 2017 Feb 14
|
||
doi: 10.1007/s10875-017-0369-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28197791" target="_blank">28197791</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22751495">Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chandesris MO,
|
||
Melki I,
|
||
Natividad A,
|
||
Puel A,
|
||
Fieschi C,
|
||
Yun L,
|
||
Thumerelle C,
|
||
Oksenhendler E,
|
||
Boutboul D,
|
||
Thomas C,
|
||
Hoarau C,
|
||
Lebranchu Y,
|
||
Stephan JL,
|
||
Cazorla C,
|
||
Aladjidi N,
|
||
Micheau M,
|
||
Tron F,
|
||
Baruchel A,
|
||
Barlogis V,
|
||
Palenzuela G,
|
||
Mathey C,
|
||
Dominique S,
|
||
Body G,
|
||
Munzer M,
|
||
Fouyssac F,
|
||
Jaussaud R,
|
||
Bader-Meunier B,
|
||
Mahlaoui N,
|
||
Blanche S,
|
||
Debré M,
|
||
Le Bourgeois M,
|
||
Gandemer V,
|
||
Lambert N,
|
||
Grandin V,
|
||
Ndaga S,
|
||
Jacques C,
|
||
Harre C,
|
||
Forveille M,
|
||
Alyanakian MA,
|
||
Durandy A,
|
||
Bodemer C,
|
||
Suarez F,
|
||
Hermine O,
|
||
Lortholary O,
|
||
Casanova JL,
|
||
Fischer A,
|
||
Picard C</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2012 Jul;91(4):e1-e19.
|
||
doi: 10.1097/MD.0b013e31825f95b9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22751495" target="_blank">22751495</a><a href="/pmc/articles/PMC3680355" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17881745">STAT3 mutations in the hyper-IgE syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holland SM,
|
||
DeLeo FR,
|
||
Elloumi HZ,
|
||
Hsu AP,
|
||
Uzel G,
|
||
Brodsky N,
|
||
Freeman AF,
|
||
Demidowich A,
|
||
Davis J,
|
||
Turner ML,
|
||
Anderson VL,
|
||
Darnell DN,
|
||
Welch PA,
|
||
Kuhns DB,
|
||
Frucht DM,
|
||
Malech HL,
|
||
Gallin JI,
|
||
Kobayashi SD,
|
||
Whitney AR,
|
||
Voyich JM,
|
||
Musser JM,
|
||
Woellner C,
|
||
Schäffer AA,
|
||
Puck JM,
|
||
Grimbacher B</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2007 Oct 18;357(16):1608-19.
|
||
Epub 2007 Sep 19
|
||
doi: 10.1056/NEJMoa073687.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17881745" target="_blank">17881745</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyper-IgE%20syndrome%206%2C%20autosomal%20dominant%2C%20with%20recurrent%20infections%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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||
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_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=620532" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hyper-IgE%20syndrome%206,%20autosomal%20dominant,%20with%20recurrent%20infections" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=601512" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6778[geneid]" target="_blank">View STAT6 variations in ClinVar</a></li><li><a href="/nuccore/296434305" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=620532" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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</div>
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<div class="portlet mgSection" id="ID_116">
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