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<meta name="keywords" content="C2936739, ad hyperimmunoglobulin e syndrome, ad-hies, autosomal dominant hies, autosomal dominant hiess, autosomal dominant hyper ige syndrome, autosomal dominant hyper-ige syndrome, autosomal dominant hyperimmunoglobulin e syndrome, buckley syndrome, disease or syndrome, hies autosomal dominant, hies, autosomal dominant, hiess, autosomal dominant, hyper ig e syndrome, autosomal dominant, hyper ige syndrome, autosomal dominant, hyper immunoglobulin e syndrome, autosomal dominant, hyper-ige recurrent infection syndrome, hyper-ige recurrent infection syndrome 1, hyper-ige recurrent infection syndrome 1, autosomal dominant, hyper-ige recurrent infection syndrome, autosomal dominant, hyper-ige syndrome 1, autosomal dominant, with recurrent infections, hyper-ige syndrome, autosomal dominant, hyper-immunoglobulin e syndrome, autosomal dominant, hyperimmunoglobulin e recurrent infection syndrome, autosomal dominant, hyperimmunoglobulin e syndrome type 1, hyperimmunoglobulin e-recurrent infection syndrome, immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist, job syndrome, job syndrome autosomal dominant, job's syndrome, stat3, stat3 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="STAT3 hyper IgE syndrome (STAT3-HIES) is a primary immune deficiency syndrome characterized by elevated serum IgE, eczema, and recurrent skin and respiratory tract infections, together with several nonimmune features. This disorder typically manifests in the newborn period with a rash (often diagnosed as eosinophilic pustulosis) that subsequently evolves into an eczematoid dermatitis. Recurrent staphylococcal skin boils and bacterial pneumonias usually manifest in the first years of life. Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias. Mucocutaneous candidiasis is common. Nonimmune features may include retained primary teeth, scoliosis, bone fractures following minimal trauma, joint hyperextensibility, and characteristic facial appearance, which typically emerges in adolescence. Vascular abnormalities have been described and include middle-sized artery tortuosity and aneurysms, with infrequent clinical sequelae of myocardial infarction and subarachnoid hemorrhage. Gastrointestinal (GI) manifestations include gastroesophageal reflux disease, esophageal dysmotility, and spontaneous intestinal perforations (some of which are associated with diverticuli). Fungal infections of the GI tract (typically histoplasmosis, Cryptococcus, and Coccidioides) also occur infrequently. Survival is typically into adulthood, with most individuals now living into or past the sixth decade. Most deaths are associated with gram-negative (Pseudomonas) or filamentous fungal pneumonias resulting in hemoptysis. Lymphomas occur at an increased frequency." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=445391
|
||
ConceptID=C2936739
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyper-IgE recurrent infection syndrome 1, autosomal dominant</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>445391</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:">C2936739</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>AD hyperimmunoglobulin E syndrome; Autosomal Dominant Hyper IgE Syndrome; HIES autosomal dominant; Hyper Ig E syndrome, autosomal dominant; Hyper-IgE recurrent infection syndrome 1; HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS; Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant; JOB SYNDROME; Job's Syndrome</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></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="STAT3 - ID: 6774 - NCBI Gene" href="/gene/6774" class="medgenPMinfo">STAT3</a> (17q21.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007818" target="_blank">MONDO:0007818</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/147060" target="_blank">147060</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2314">ORPHA2314</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_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK25507" target="_blank">STAT3 Hyper IgE Syndrome</a></div><div>STAT3 hyper IgE syndrome (STAT3-HIES) is a primary immune deficiency syndrome characterized by elevated serum IgE, eczema, and recurrent skin and respiratory tract infections, together with several nonimmune features. This disorder typically manifests in the newborn period with a rash (often diagnosed as eosinophilic pustulosis) that subsequently evolves into an eczematoid dermatitis. Recurrent staphylococcal skin boils and bacterial pneumonias usually manifest in the first years of life. Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias. Mucocutaneous candidiasis is common. Nonimmune features may include retained primary teeth, scoliosis, bone fractures following minimal trauma, joint hyperextensibility, and characteristic facial appearance, which typically emerges in adolescence. Vascular abnormalities have been described and include middle-sized artery tortuosity and aneurysms, with infrequent clinical sequelae of myocardial infarction and subarachnoid hemorrhage. Gastrointestinal (GI) manifestations include gastroesophageal reflux disease, esophageal dysmotility, and spontaneous intestinal perforations (some of which are associated with diverticuli). Fungal infections of the GI tract (typically histoplasmosis, Cryptococcus, and Coccidioides) also occur infrequently. Survival is typically into adulthood, with most individuals now living into or past the sixth decade. Most deaths are associated with gram-negative (Pseudomonas) or filamentous fungal pneumonias resulting in hemoptysis. Lymphomas occur at an increased frequency. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK25507#higes.Summary" target="NBK25507">Summary</a> | <a class="medgenPMinfo" href="/books/NBK25507#higes.Diagnosis" target="NBK25507">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK25507#higes.Clinical_Characteristics" target="NBK25507">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK25507#higes.Genetically_Related_Allelic_Disord" target="NBK25507">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK25507#higes.Differential_Diagnosis" target="NBK25507">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK25507#higes.Management" target="NBK25507">Management</a> | <a class="medgenPMinfo" href="/books/NBK25507#higes.Genetic_Counseling" target="NBK25507">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK25507#higes.Resources" target="NBK25507">Resources</a> | <a class="medgenPMinfo" href="/books/NBK25507#higes.Molecular_Genetics" target="NBK25507">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK25507#higes.References" target="NBK25507">References</a> | <a class="medgenPMinfo" href="/books/NBK25507#higes.Chapter_Notes" target="NBK25507">Chapter Notes</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Amy P Hsu | Joie Davis | Jennifer M Puck<i>, et. al.</i> <a href="/books/NBK25507" target="NBK25507" title="NCBI Bookshelf: STAT3 Hyper IgE Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Hyper-IgE syndrome-1 with recurrent infections (HIES1) is an autosomal dominant immunologic disorder characterized by chronic eczema (atopy), recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Other more variable immunologic abnormalities include defective granulocyte chemotaxis, abnormalities in T-lymphocyte subgroups, impaired antibody production, and decreased production of or response to certain cytokines. Importantly, the same immune system defects are not found in all patients. Some patients may have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).
|
||
Genetic Heterogeneity of Hyper-IgE Syndrome
|
||
See also HIES2 (243700), caused by mutation in the DOCK8 gene (611432); HIES3 (618282), caused by mutation in the ZNF341 gene (618269); HIES4A (619752) and HIES4B (618523), both caused by mutation in the IL6ST gene (600694); HIES5 (618944), caused by mutation in the IL6R gene (147880); and HIES6 (620532), caused by mutation in the STAT6 gene (601512). <a target="_blank" href="http://www.omim.org/entry/147060">http://www.omim.org/entry/147060</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Autosomal dominant hyper-IgE syndrome (AD-HIES), formerly known as Job syndrome, is a condition that affects several body systems, particularly the immune system. Recurrent infections are common in people with this condition. Affected individuals tend to have frequent bouts of pneumonia, which are caused by certain kinds of bacteria that infect the lungs and cause inflammation. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, excessive inflammation can damage body tissues. Recurring pneumonia often results in the formation of air-filled cysts (pneumatoceles) in the lungs. Frequent skin infections and an inflammatory skin disorder called eczema are also very common in AD-HIES. These skin problems cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling.<br /><br />For unknown reasons, people with AD-HIES have abnormally high levels of an immune system protein called immunoglobulin E (IgE) in the blood. IgE normally triggers an immune response against foreign invaders in the body, particularly parasitic worms, and is involved in allergies. However, IgE is not needed for these roles in people with AD-HIES, and it is unclear why affected individuals have such high levels of the protein without having allergies.<br /><br />AD-HIES also affects other parts of the body, including the bones and teeth. Many people with AD-HIES have skeletal abnormalities such as an unusually large range of joint movement (hyperextensibility), an abnormal curvature of the spine (scoliosis), reduced bone density (osteopenia), and a tendency for bones to fracture easily. A common dental abnormality in this condition is that the primary (baby) teeth do not fall out at the usual time during childhood but are retained as the adult teeth grow in. Other signs and symptoms of AD-HIES can include abnormalities of the arteries that supply blood to the heart muscle (coronary arteries), distinctive facial features, and structural abnormalities of the brain, which do not affect a person's intelligence. <a target="_blank" href="https://medlineplus.gov/genetics/condition/autosomal-dominant-hyper-ige-syndrome">https://medlineplus.gov/genetics/condition/autosomal-dominant-hyper-ige-syndrome</a></div></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>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_7803"><div><strong>Abdominal pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7803</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.">C0000737</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7803">Feature record</a> | <a href="/medgen?term=%22Abdominal%20pain%22%5BClinical%20Features%5D%20OR%207803%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2992"><div><strong>Chest pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2992</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.">C0008031</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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||
<div class="spaceAbove">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/2992">Feature record</a> | <a href="/medgen?term=%22Chest%20pain%22%5BClinical%20Features%5D%20OR%202992%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1101"><div><strong>Constipation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1101</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.">C0009806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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||
<div class="spaceAbove">Infrequent or difficult evacuation of feces.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1101">Feature record</a> | <a href="/medgen?term=%22Constipation%22%5BClinical%20Features%5D%20OR%201101%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_41440"><div><strong>Dysphagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41440</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.">C0011168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Difficulty in swallowing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41440">Feature record</a> | <a href="/medgen?term=%22Dysphagia%22%5BClinical%20Features%5D%20OR%2041440%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_8360"><div><strong>Diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8360</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.">C0011991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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||
<div class="spaceAbove">Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/8360">Feature record</a> | <a href="/medgen?term=%22Diarrhea%22%5BClinical%20Features%5D%20OR%208360%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_3878"><div><strong>Colonic diverticula</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3878</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.">C0012819</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The presence of multiple diverticula of the colon.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3878">Feature record</a> | <a href="/medgen?term=%22Colonic%20diverticula%22%5BClinical%20Features%5D%20OR%203878%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41670"><div><strong>Duodenal ulcer</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41670</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.">C0013295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An erosion of the mucous membrane in a portion of the duodenum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41670">Feature record</a> | <a href="/medgen?term=%22Duodenal%20ulcer%22%5BClinical%20Features%5D%20OR%2041670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5025"><div><strong>Esophageal diverticulum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5025</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.">C0014854</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a diverticulum of the esophagus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5025">Feature record</a> | <a href="/medgen?term=%22Esophageal%20diverticulum%22%5BClinical%20Features%5D%20OR%205025%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9525"><div><strong>Intestinal perforation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9525</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.">C0021845</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A hole (perforation) in the wall of the intestine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9525">Feature record</a> | <a href="/medgen?term=%22Intestinal%20perforation%22%5BClinical%20Features%5D%20OR%209525%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10196"><div><strong>Nausea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10196</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.">C0027497</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A sensation of unease in the stomach together with an urge to vomit.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10196">Feature record</a> | <a href="/medgen?term=%22Nausea%22%5BClinical%20Features%5D%20OR%2010196%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11151"><div><strong>Rectal prolapse</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11151</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.">C0034888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Protrusion of the rectal mucous membrane through the anus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11151">Feature record</a> | <a href="/medgen?term=%22Rectal%20prolapse%22%5BClinical%20Features%5D%20OR%2011151%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21330"><div><strong>Gastric ulcer</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21330</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.">C0038358</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An ulcer, that is, an erosion of an area of the gastric mucous membrane.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21330">Feature record</a> | <a href="/medgen?term=%22Gastric%20ulcer%22%5BClinical%20Features%5D%20OR%2021330%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56254"><div><strong>Esophageal ulceration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56254</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.">C0151970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56254">Feature record</a> | <a href="/medgen?term=%22Esophageal%20ulceration%22%5BClinical%20Features%5D%20OR%2056254%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_526172"><div><strong>Odynophagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>526172</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.">C0221150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pain experienced with swallowing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/526172">Feature record</a> | <a href="/medgen?term=%22Odynophagia%22%5BClinical%20Features%5D%20OR%20526172%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_536892"><div><strong>Early satiety</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>536892</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.">C0239233</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/536892">Feature record</a> | <a href="/medgen?term=%22Early%20satiety%22%5BClinical%20Features%5D%20OR%20536892%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120598"><div><strong>Eosinophilic gastritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120598</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.">C0267154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120598">Feature record</a> | <a href="/medgen?term=%22Eosinophilic%20gastritis%22%5BClinical%20Features%5D%20OR%20120598%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1651762"><div><strong>Esophageal food impaction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1651762</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.">C1695984</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A piece of food that has gotten stuck in the esophagus and prevents further swallowing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1651762">Feature record</a> | <a href="/medgen?term=%22Esophageal%20food%20impaction%22%5BClinical%20Features%5D%20OR%201651762%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_1382460"><div><strong>Increased hepatic echogenicity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1382460</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.">C4477000</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1382460">Feature record</a> | <a href="/medgen?term=%22Increased%20hepatic%20echogenicity%22%5BClinical%20Features%5D%20OR%201382460%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1637009"><div><strong>Esophageal stricture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1637009</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.">C4551650</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1637009">Feature record</a> | <a href="/medgen?term=%22Esophageal%20stricture%22%5BClinical%20Features%5D%20OR%201637009%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1647993"><div><strong>Esophageal furrows</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647993</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.">C4703578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1647993">Feature record</a> | <a href="/medgen?term=%22Esophageal%20furrows%22%5BClinical%20Features%5D%20OR%201647993%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_1163"><div><strong>Craniosynostosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1163</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.">C0010278</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1163">Feature record</a> | <a href="/medgen?term=%22Craniosynostosis%20syndrome%22%5BClinical%20Features%5D%20OR%201163%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42094"><div><strong>Recurrent fractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42094</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.">C0016655</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Injury or Poisoning</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Recurrent%20fractures%22%5BClinical%20Features%5D%20OR%2042094%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18222"><div><strong>Osteopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18222</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.">C0029453</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18222">Feature record</a> | <a href="/medgen?term=%22Osteopenia%22%5BClinical%20Features%5D%20OR%2018222%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_67453"><div><strong>Frontal bossing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67453</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.">C0221354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67453">Feature record</a> | <a href="/medgen?term=%22Frontal%20bossing%22%5BClinical%20Features%5D%20OR%2067453%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336793"><div><strong>Joint hypermobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336793</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.">C1844820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336793">Feature record</a> | <a href="/medgen?term=%22Joint%20hypermobility%22%5BClinical%20Features%5D%20OR%20336793%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4928"><div><strong>Pleural empyema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4928</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.">C0014013</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Accumulation of pus in the pleural cavity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4928">Feature record</a> | <a href="/medgen?term=%22Pleural%20empyema%22%5BClinical%20Features%5D%20OR%204928%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107790"><div><strong>Pulmonary cyst</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107790</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.">C0546483</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107790">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20cyst%22%5BClinical%20Features%5D%20OR%20107790%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_154380"><div><strong>Recurrent upper respiratory tract infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154380</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.">C0581381</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154380">Feature record</a> | <a href="/medgen?term=%22Recurrent%20upper%20respiratory%20tract%20infections%22%5BClinical%20Features%5D%20OR%20154380%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195802"><div><strong>Recurrent pneumonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195802</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.">C0694550</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195802">Feature record</a> | <a href="/medgen?term=%22Recurrent%20pneumonia%22%5BClinical%20Features%5D%20OR%20195802%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339549"><div><strong>Recurrent sinopulmonary infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339549</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.">C1846546</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339549">Feature record</a> | <a href="/medgen?term=%22Recurrent%20sinopulmonary%20infections%22%5BClinical%20Features%5D%20OR%20339549%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2426"><div><strong>Chronic mucocutaneous candidiasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2426</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.">C0006845</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2426">Feature record</a> | <a href="/medgen?term=%22Chronic%20mucocutaneous%20candidiasis%22%5BClinical%20Features%5D%20OR%202426%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3968"><div><strong>Eczematoid dermatitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3968</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.">C0013595</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3968">Feature record</a> | <a href="/medgen?term=%22Eczematoid%20dermatitis%22%5BClinical%20Features%5D%20OR%203968%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_450991"><div><strong>Cutaneous abscess</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>450991</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.">C0149777</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A circumscribed area of pus or necrotic debris in the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/450991">Feature record</a> | <a href="/medgen?term=%22Cutaneous%20abscess%22%5BClinical%20Features%5D%20OR%20450991%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_66784"><div><strong>Esophageal candidiasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66784</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.">C0239295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66784">Feature record</a> | <a href="/medgen?term=%22Esophageal%20candidiasis%22%5BClinical%20Features%5D%20OR%2066784%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336166"><div><strong>Recurrent fungal infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336166</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.">C1844384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336166">Feature record</a> | <a href="/medgen?term=%22Recurrent%20fungal%20infections%22%5BClinical%20Features%5D%20OR%20336166%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_392925"><div><strong>Recurrent Staphylococcus aureus infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>392925</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.">C2673462</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/392925">Feature record</a> | <a href="/medgen?term=%22Recurrent%20Staphylococcus%20aureus%20infections%22%5BClinical%20Features%5D%20OR%20392925%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867572"><div><strong>Recurrent cutaneous abscess formation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867572</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.">C4021957</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867572">Feature record</a> | <a href="/medgen?term=%22Recurrent%20cutaneous%20abscess%20formation%22%5BClinical%20Features%5D%20OR%20867572%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870166"><div><strong>Chronic oral candidiasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870166</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.">C4024599</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870166">Feature record</a> | <a href="/medgen?term=%22Chronic%20oral%20candidiasis%22%5BClinical%20Features%5D%20OR%20870166%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1830322"><div><strong>Skin rash</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830322</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5779628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A red eruption of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1830322">Feature record</a> | <a href="/medgen?term=%22Skin%20rash%22%5BClinical%20Features%5D%20OR%201830322%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</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.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75597"><div><strong>Persistence of primary teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75597</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.">C0266050</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75597">Feature record</a> | <a href="/medgen?term=%22Persistence%20of%20primary%20teeth%22%5BClinical%20Features%5D%20OR%2075597%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140869"><div><strong>Wide nose</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140869</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.">C0426421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140869">Feature record</a> | <a href="/medgen?term=%22Wide%20nose%22%5BClinical%20Features%5D%20OR%20140869%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373291"><div><strong>Prominent forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373291</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.">C1837260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Forward prominence of the entire forehead, due to protrusion of the frontal bone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373291">Feature record</a> | <a href="/medgen?term=%22Prominent%20forehead%22%5BClinical%20Features%5D%20OR%20373291%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335284"><div><strong>Coarse facial features</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335284</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.">C1845847</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335284">Feature record</a> | <a href="/medgen?term=%22Coarse%20facial%20features%22%5BClinical%20Features%5D%20OR%20335284%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11999"><div><strong>Erythema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11999</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.">C0041834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11999">Feature record</a> | <a href="/medgen?term=%22Erythema%22%5BClinical%20Features%5D%20OR%2011999%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</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.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%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_335284" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coarse facial features</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75597" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Persistence of primary teeth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373291" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent forehead</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140869" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wide nose</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3878" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Colonic diverticula</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Constipation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diarrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Duodenal ulcer</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysphagia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_536892" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Early satiety</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eosinophilic gastritis</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_5025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Esophageal diverticulum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1651762" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Esophageal food impaction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1647993" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Esophageal furrows</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1637009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Esophageal stricture</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56254" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Esophageal ulceration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21330" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastric ulcer</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1382460" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased hepatic echogenicity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9525" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intestinal perforation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10196" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nausea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_526172" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Odynophagia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11151" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rectal prolapse</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</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_2426" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic mucocutaneous candidiasis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic oral candidiasis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_450991" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutaneous abscess</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eczematoid dermatitis</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_66784" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Esophageal candidiasis</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_867572" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent cutaneous abscess formation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent fungal infections</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_392925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent Staphylococcus aureus infections</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1830322" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skin rash</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11999" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Erythema</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_1163" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniosynostosis syndrome</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontal bossing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint hypermobility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteopenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42094" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent fractures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</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_4928" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pleural empyema</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107790" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary cyst</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent pneumonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339549" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent sinopulmonary infections</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154380" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent upper respiratory tract infections</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7803" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abdominal pain</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2992" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chest pain</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2936739[DISCUI]&test_type=Clinical" ref="ncbi_uid=445391">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=445391" target="_blank" href="/omim/147060">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK25507/" ref="ncbi_uid=445391">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=445391" ref="ncbi_uid=445391">V</a></span></span><span class="TLline">Hyper-IgE recurrent infection syndrome 1, autosomal dominant</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="TLline"><a href="/medgen/272730" ref="tree=MeSH" title="MedGen record for Hyperimmunoglobulin syndrome">Hyperimmunoglobulin syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/854488" ref="tree=MeSH" title="MedGen record for Hyper-IgE syndrome">Hyper-IgE syndrome</a></span><ul><li><span class="matched_ds">Hyper-IgE recurrent infection syndrome 1, autosomal dominant</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></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/36917542">Germline Mosaicism in STAT3: A Pitfall for Genetic Diagnosis, Counseling, and Therapy of Hyper-IgE Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sabbagh Q,
|
||
Cohen JD,
|
||
Mortreux J,
|
||
Raymond L,
|
||
Geromel V,
|
||
Boursier G,
|
||
Jeziorski E,
|
||
Le Moing V,
|
||
Bessis D,
|
||
Geneviève D</span><br />
|
||
<span class="medgenPMjournal">Dermatitis</span>
|
||
2023 Nov-Dec;34(6):561-563.
|
||
Epub 2023 Jan 19
|
||
doi: 10.1089/derm.2022.0057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36917542" target="_blank">36917542</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35085810">Treatment of STAT3-deficient hyper-immunoglobulin E syndrome with monoclonal antibodies targeting allergic inflammation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">James AE,
|
||
West L,
|
||
Schloss K,
|
||
Nataraj P,
|
||
Urban A,
|
||
Hirsch A,
|
||
Krausz M,
|
||
Kumar S,
|
||
Raasch J,
|
||
Risma K,
|
||
Church JA,
|
||
Grimbacher B,
|
||
Bergerson JRE,
|
||
Chong H,
|
||
Freeman AF</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2022 May;10(5):1367-1370.e1.
|
||
Epub 2022 Jan 24
|
||
doi: 10.1016/j.jaip.2022.01.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35085810" target="_blank">35085810</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26743515">Autosomal Dominant Hyper IgE Syndrome--Treatment Strategies and Clinical Outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flinn AM,
|
||
Cant A,
|
||
Leahy TR,
|
||
Butler KM,
|
||
Gennery AR</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2016 Feb;36(2):107-9.
|
||
Epub 2016 Jan 7
|
||
doi: 10.1007/s10875-015-0231-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26743515" target="_blank">26743515</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hyper-ige%20recurrent%20infection%20syndrome%201%2C%20autosomal%20dominant)%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 (89)</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/38394983">Job satisfaction and burnout syndrome among intensive-care unit nurses: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quesada-Puga C,
|
||
Izquierdo-Espin FJ,
|
||
Membrive-Jiménez MJ,
|
||
Aguayo-Estremera R,
|
||
Cañadas-De La Fuente GA,
|
||
Romero-Béjar JL,
|
||
Gómez-Urquiza JL</span><br />
|
||
<span class="medgenPMjournal">Intensive Crit Care Nurs</span>
|
||
2024 Jun;82:103660.
|
||
Epub 2024 Feb 22
|
||
doi: 10.1016/j.iccn.2024.103660.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38394983" target="_blank">38394983</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35351598">Hyper IgE syndromes: A clinical approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gharehzadehshirazi A,
|
||
Amini A,
|
||
Rezaei N</span><br />
|
||
<span class="medgenPMjournal">Clin Immunol</span>
|
||
2022 Apr;237:108988.
|
||
Epub 2022 Mar 26
|
||
doi: 10.1016/j.clim.2022.108988.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35351598" target="_blank">35351598</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33932191">STAT3 Hyper-IgE Syndrome-an Update and Unanswered Questions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsilifis C,
|
||
Freeman AF,
|
||
Gennery AR</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2021 Jul;41(5):864-880.
|
||
Epub 2021 May 1
|
||
doi: 10.1007/s10875-021-01051-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33932191" target="_blank">33932191</a><a href="/pmc/articles/PMC8249299" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30264496">Hyper IgE syndromes: clinical and molecular characteristics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Shaikhly T,
|
||
Ochs HD</span><br />
|
||
<span class="medgenPMjournal">Immunol Cell Biol</span>
|
||
2019 Apr;97(4):368-379.
|
||
Epub 2018 Nov 19
|
||
doi: 10.1111/imcb.12209.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30264496" target="_blank">30264496</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29183877">Burnout syndrome among healthcare professionals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bridgeman PJ,
|
||
Bridgeman MB,
|
||
Barone J</span><br />
|
||
<span class="medgenPMjournal">Am J Health Syst Pharm</span>
|
||
2018 Feb 1;75(3):147-152.
|
||
Epub 2017 Nov 28
|
||
doi: 10.2146/ajhp170460.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29183877" target="_blank">29183877</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyper-IgE%20recurrent%20infection%20syndrome%201%2C%20autosomal%20dominant%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 (1099)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37702167">Hyper IgE Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gracci S,
|
||
Novelli T,
|
||
D'Elios S,
|
||
Bernardini R,
|
||
Peroni D</span><br />
|
||
<span class="medgenPMjournal">Curr Pediatr Rev</span>
|
||
2024;20(3):253-264.
|
||
doi: 10.2174/1573396320666230912103124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37702167" target="_blank">37702167</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35351598">Hyper IgE syndromes: A clinical approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gharehzadehshirazi A,
|
||
Amini A,
|
||
Rezaei N</span><br />
|
||
<span class="medgenPMjournal">Clin Immunol</span>
|
||
2022 Apr;237:108988.
|
||
Epub 2022 Mar 26
|
||
doi: 10.1016/j.clim.2022.108988.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35351598" target="_blank">35351598</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31848865">Prevalence, Predictors, and Treatment of Impostor Syndrome: a Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bravata DM,
|
||
Watts SA,
|
||
Keefer AL,
|
||
Madhusudhan DK,
|
||
Taylor KT,
|
||
Clark DM,
|
||
Nelson RS,
|
||
Cokley KO,
|
||
Hagg HK</span><br />
|
||
<span class="medgenPMjournal">J Gen Intern Med</span>
|
||
2020 Apr;35(4):1252-1275.
|
||
Epub 2019 Dec 17
|
||
doi: 10.1007/s11606-019-05364-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31848865" target="_blank">31848865</a><a href="/pmc/articles/PMC7174434" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30264496">Hyper IgE syndromes: clinical and molecular characteristics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Shaikhly T,
|
||
Ochs HD</span><br />
|
||
<span class="medgenPMjournal">Immunol Cell Biol</span>
|
||
2019 Apr;97(4):368-379.
|
||
Epub 2018 Nov 19
|
||
doi: 10.1111/imcb.12209.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30264496" target="_blank">30264496</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29183877">Burnout syndrome among healthcare professionals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bridgeman PJ,
|
||
Bridgeman MB,
|
||
Barone J</span><br />
|
||
<span class="medgenPMjournal">Am J Health Syst Pharm</span>
|
||
2018 Feb 1;75(3):147-152.
|
||
Epub 2017 Nov 28
|
||
doi: 10.2146/ajhp170460.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29183877" target="_blank">29183877</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyper-IgE%20recurrent%20infection%20syndrome%201%2C%20autosomal%20dominant%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 (762)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32140997">Therapeutic Potential of Citrulline as an Arginine Supplement: A Clinical Pharmacology Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rashid J,
|
||
Kumar SS,
|
||
Job KM,
|
||
Liu X,
|
||
Fike CD,
|
||
Sherwin CMT</span><br />
|
||
<span class="medgenPMjournal">Paediatr Drugs</span>
|
||
2020 Jun;22(3):279-293.
|
||
doi: 10.1007/s40272-020-00384-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32140997" target="_blank">32140997</a><a href="/pmc/articles/PMC7274894" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30410033">Multiple sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Filippi M,
|
||
Bar-Or A,
|
||
Piehl F,
|
||
Preziosa P,
|
||
Solari A,
|
||
Vukusic S,
|
||
Rocca MA</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2018 Nov 8;4(1):43.
|
||
doi: 10.1038/s41572-018-0041-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30410033" target="_blank">30410033</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17636136">Chronic daily headache.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weatherall MW</span><br />
|
||
<span class="medgenPMjournal">Pract Neurol</span>
|
||
2007 Aug;7(4):212-21.
|
||
doi: 10.1136/jnnp.2007.124511.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17636136" target="_blank">17636136</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16162447">Cortisol decreases and serotonin and dopamine increase following massage therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Field T,
|
||
Hernandez-Reif M,
|
||
Diego M,
|
||
Schanberg S,
|
||
Kuhn C</span><br />
|
||
<span class="medgenPMjournal">Int J Neurosci</span>
|
||
2005 Oct;115(10):1397-413.
|
||
doi: 10.1080/00207450590956459.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16162447" target="_blank">16162447</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15098273">Mycoplasma pneumatoceles.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andronikou S,
|
||
Eimany A,
|
||
Robinson PJ,
|
||
Kemp A</span><br />
|
||
<span class="medgenPMjournal">S Afr Med J</span>
|
||
2004 Mar;94(3):166-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15098273" target="_blank">15098273</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyper-IgE%20recurrent%20infection%20syndrome%201%2C%20autosomal%20dominant%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 (431)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37702167">Hyper IgE Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gracci S,
|
||
Novelli T,
|
||
D'Elios S,
|
||
Bernardini R,
|
||
Peroni D</span><br />
|
||
<span class="medgenPMjournal">Curr Pediatr Rev</span>
|
||
2024;20(3):253-264.
|
||
doi: 10.2174/1573396320666230912103124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37702167" target="_blank">37702167</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31848865">Prevalence, Predictors, and Treatment of Impostor Syndrome: a Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bravata DM,
|
||
Watts SA,
|
||
Keefer AL,
|
||
Madhusudhan DK,
|
||
Taylor KT,
|
||
Clark DM,
|
||
Nelson RS,
|
||
Cokley KO,
|
||
Hagg HK</span><br />
|
||
<span class="medgenPMjournal">J Gen Intern Med</span>
|
||
2020 Apr;35(4):1252-1275.
|
||
Epub 2019 Dec 17
|
||
doi: 10.1007/s11606-019-05364-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31848865" target="_blank">31848865</a><a href="/pmc/articles/PMC7174434" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30410033">Multiple sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Filippi M,
|
||
Bar-Or A,
|
||
Piehl F,
|
||
Preziosa P,
|
||
Solari A,
|
||
Vukusic S,
|
||
Rocca MA</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2018 Nov 8;4(1):43.
|
||
doi: 10.1038/s41572-018-0041-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30410033" target="_blank">30410033</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28977041">Physical, psychological and occupational consequences of job burnout: A systematic review of prospective studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salvagioni DAJ,
|
||
Melanda FN,
|
||
Mesas AE,
|
||
González AD,
|
||
Gabani FL,
|
||
Andrade SM</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2017;12(10):e0185781.
|
||
Epub 2017 Oct 4
|
||
doi: 10.1371/journal.pone.0185781.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28977041" target="_blank">28977041</a><a href="/pmc/articles/PMC5627926" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25839387">Degenerative Cervical Myelopathy: Epidemiology, Genetics, and Pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nouri A,
|
||
Tetreault L,
|
||
Singh A,
|
||
Karadimas SK,
|
||
Fehlings MG</span><br />
|
||
<span class="medgenPMjournal">Spine (Phila Pa 1976)</span>
|
||
2015 Jun 15;40(12):E675-93.
|
||
doi: 10.1097/BRS.0000000000000913.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25839387" target="_blank">25839387</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyper-IgE%20recurrent%20infection%20syndrome%201%2C%20autosomal%20dominant%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 (481)</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/37702167">Hyper IgE Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gracci S,
|
||
Novelli T,
|
||
D'Elios S,
|
||
Bernardini R,
|
||
Peroni D</span><br />
|
||
<span class="medgenPMjournal">Curr Pediatr Rev</span>
|
||
2024;20(3):253-264.
|
||
doi: 10.2174/1573396320666230912103124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37702167" target="_blank">37702167</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31848865">Prevalence, Predictors, and Treatment of Impostor Syndrome: a Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bravata DM,
|
||
Watts SA,
|
||
Keefer AL,
|
||
Madhusudhan DK,
|
||
Taylor KT,
|
||
Clark DM,
|
||
Nelson RS,
|
||
Cokley KO,
|
||
Hagg HK</span><br />
|
||
<span class="medgenPMjournal">J Gen Intern Med</span>
|
||
2020 Apr;35(4):1252-1275.
|
||
Epub 2019 Dec 17
|
||
doi: 10.1007/s11606-019-05364-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31848865" target="_blank">31848865</a><a href="/pmc/articles/PMC7174434" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25839387">Degenerative Cervical Myelopathy: Epidemiology, Genetics, and Pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nouri A,
|
||
Tetreault L,
|
||
Singh A,
|
||
Karadimas SK,
|
||
Fehlings MG</span><br />
|
||
<span class="medgenPMjournal">Spine (Phila Pa 1976)</span>
|
||
2015 Jun 15;40(12):E675-93.
|
||
doi: 10.1097/BRS.0000000000000913.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25839387" target="_blank">25839387</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24560380">Burnout among physicians.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romani M,
|
||
Ashkar K</span><br />
|
||
<span class="medgenPMjournal">Libyan J Med</span>
|
||
2014;9(1):23556.
|
||
Epub 2014 Feb 17
|
||
doi: 10.3402/ljm.v9.23556.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24560380" target="_blank">24560380</a><a href="/pmc/articles/PMC3929077" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyper-IgE%20recurrent%20infection%20syndrome%201%2C%20autosomal%20dominant%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 (666)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38394983">Job satisfaction and burnout syndrome among intensive-care unit nurses: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quesada-Puga C,
|
||
Izquierdo-Espin FJ,
|
||
Membrive-Jiménez MJ,
|
||
Aguayo-Estremera R,
|
||
Cañadas-De La Fuente GA,
|
||
Romero-Béjar JL,
|
||
Gómez-Urquiza JL</span><br />
|
||
<span class="medgenPMjournal">Intensive Crit Care Nurs</span>
|
||
2024 Jun;82:103660.
|
||
Epub 2024 Feb 22
|
||
doi: 10.1016/j.iccn.2024.103660.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38394983" target="_blank">38394983</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31848865">Prevalence, Predictors, and Treatment of Impostor Syndrome: a Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bravata DM,
|
||
Watts SA,
|
||
Keefer AL,
|
||
Madhusudhan DK,
|
||
Taylor KT,
|
||
Clark DM,
|
||
Nelson RS,
|
||
Cokley KO,
|
||
Hagg HK</span><br />
|
||
<span class="medgenPMjournal">J Gen Intern Med</span>
|
||
2020 Apr;35(4):1252-1275.
|
||
Epub 2019 Dec 17
|
||
doi: 10.1007/s11606-019-05364-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31848865" target="_blank">31848865</a><a href="/pmc/articles/PMC7174434" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30326495">Prevalence of Burnout Among Physicians: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rotenstein LS,
|
||
Torre M,
|
||
Ramos MA,
|
||
Rosales RC,
|
||
Guille C,
|
||
Sen S,
|
||
Mata DA</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2018 Sep 18;320(11):1131-1150.
|
||
doi: 10.1001/jama.2018.12777.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30326495" target="_blank">30326495</a><a href="/pmc/articles/PMC6233645" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28977041">Physical, psychological and occupational consequences of job burnout: A systematic review of prospective studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salvagioni DAJ,
|
||
Melanda FN,
|
||
Mesas AE,
|
||
González AD,
|
||
Gabani FL,
|
||
Andrade SM</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2017;12(10):e0185781.
|
||
Epub 2017 Oct 4
|
||
doi: 10.1371/journal.pone.0185781.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28977041" target="_blank">28977041</a><a href="/pmc/articles/PMC5627926" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28185485">Effects of work environment on patient and nurse outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Copanitsanou P,
|
||
Fotos N,
|
||
Brokalaki H</span><br />
|
||
<span class="medgenPMjournal">Br J Nurs</span>
|
||
2017 Feb 9;26(3):172-176.
|
||
doi: 10.12968/bjon.2017.26.3.172.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28185485" target="_blank">28185485</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyper-IgE%20recurrent%20infection%20syndrome%201%2C%20autosomal%20dominant%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (38)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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|
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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><li><a href="/gtr/tests?term=C2936739%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (31)</a></li>
|
||
<li><a href="/gtr/tests?term=C2936739%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (41)</a></li>
|
||
<li><a href="/gtr/tests?term=C2936739%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (8)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2936739%5bDISCUI%5d" target="_blank">See all (50)</a></total></li>
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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=147060" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2314" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hyper-IgE%20recurrent%20infection%20syndrome%201,%20autosomal%20dominant" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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=(hyper-ige%20recurrent%20infection%20syndrome%201%2C%20autosomal%20dominant)%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(%22Hyper-IgE%20recurrent%20infection%20syndrome%201%2C%20autosomal%20dominant%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.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=102582" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6774[geneid]" target="_blank">View STAT3 variations in ClinVar</a></li><li><a href="/nuccore/166706892" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=147060" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/hyper_ige_syndrome_1_autosomal_dominant_with_recurrent_infections" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hyper-IgE%20recurrent%20infection%20syndrome%201,%20autosomal%20dominant" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-hyper-ige-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/6800/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
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|
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|
||
<div class="portlet_head">
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<h3>Reviews</h3>
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<li>
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<a href="/pubmed/20301786" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
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<a href="/pubmed/clinical?term=Hyper-IgE%20recurrent%20infection%20syndrome%201,%20autosomal%20dominant" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<li>
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<a href="/pubmed?term=Hyper-IgE%20recurrent%20infection%20syndrome%201,%20autosomal%20dominant%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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</li>
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<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
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</div>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=445391" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
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<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=445391" ref="log$=recordlinks">Gene</a>
|
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