HIES
MCID: ATS059
MIFTS: 31

Autosomal Dominant Hyper Ige Syndrome (HIES) malady

Genetic diseases, Rare diseases, Immune diseases, Skin diseases, Blood diseases categories

Summaries for Autosomal Dominant Hyper Ige Syndrome

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NIH Rare Diseases:42 Autosomal dominant hyper ige syndrome (ad-hies), formerly known as job syndrome, affects several body systems including the immune system. ad-hies is characterized by abnormally high levels of an immune system protein called immunoglobulin e (ige) in the blood.  signs and symptoms may include recurrent infections (e.g., pneumonia, skin infections), eczema, and occasionally bone and tooth abnormalities. the eczema and skin infections may cause rashes, blisters, collections of pus (abscesses), open sores, and scaling of the skin. some cases of ad-hies are caused by mutations in the stat3 gene. in other cases, the cause is unknown. last updated: 8/25/2010

MalaCards based summary: Autosomal Dominant Hyper Ige Syndrome, also known as hyper-ige syndrome, is related to hyper ige syndrome and chronic granulomatous disease. An important gene associated with Autosomal Dominant Hyper Ige Syndrome is STAT3 (signal transducer and activator of transcription 3 (acute-phase response factor)). Affiliated tissues include skin, bone and lung.

Genetics Home Reference:22 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. Recurrent skin infections and an inflammatory skin disorder called eczema are also very common in Job syndrome. These skin problems cause rashes, blisters, collections of pus (abscesses), open sores, and scaling.

GeneReviews summary for higes

Aliases & Classifications for Autosomal Dominant Hyper Ige Syndrome

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Autosomal Dominant Hyper Ige Syndrome, Aliases & Descriptions:

Name: Autosomal Dominant Hyper Ige Syndrome 20 42 21
Hyper-Ige Syndrome 22 44 61
Hyperimmunoglobulin E-Recurrent Infection Syndrome 22 61
Job-Buckley Syndrome 22 61
Buckley Syndrome 22 61
Job's Syndrome 22 61
Job Syndrome 22 61
Ad-Hies 20 42
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Dominant 42
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant 61
 
Hyper Ig E Syndrome, Autosomal Dominant 42
Stat3-Deficient Hyper Ige Syndrome 20
Ad Hyperimmunoglobulin E Syndrome 42
Job Syndrome Autosomal Dominant 42
Hies Autosomal Dominant 42
Stat3 Deficiency 20
Job’s Syndrome 20
Jobs Syndrome 11
Hie Syndrome 22
Hies 22


Classifications:



Related Diseases for Autosomal Dominant Hyper Ige Syndrome

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Diseases in the Hyper Ige Syndrome family:

autosomal dominant hyper ige syndrome Autosomal Recessive Hyper Ige Syndrome

Diseases related to Autosomal Dominant Hyper Ige Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 313)
idRelated DiseaseScoreTop Affiliating Genes
1hyper ige syndrome10.9
2chronic granulomatous disease10.5
3histoplasmosis10.4
4hematopoietic stem cell transplantation10.3
5aspergillosis10.3
6b-cell lymphomas10.3
7diffuse large b-cell lymphoma10.3
8t cell deficiency10.3
9aneurysm10.3
10his bundle tachycardia10.3
11crohn's disease10.3
12cryptococcosis10.3
13dermatitis10.3
14right bundle branch block10.3
15dysfibrinogenemia10.3
16autosomal recessive hyper ige syndrome10.3
17thalassemia10.2
18burkitt's lymphoma10.2
19mantle cell lymphoma10.2
20saethre-chotzen syndrome10.2
21progressive multifocal leukoencephalopathy10.2
22factor viii deficiency10.2
23intracranial aneurysm10.2
24autosomal dominant disease10.2
25cervicitis10.2
26food allergy10.2
27meningitis10.2
28papilloma10.2
29tetanus10.2
30chromosome 9p deletion10.2
31cutis verticis gyrata10.2
32patent ductus venosus10.2
33prolidase deficiency10.2
34sepsis10.2
35systemic lupus erythematosus10.2
36hyperinsulinism10.2
37breast cancer10.2
38lupus erythematosus10.2
39hodgkin's lymphoma10.1
40peripheral t-cell lymphoma10.1
41molluscum contagiosum10.1
42atopic dermatitis10.1
43adenocarcinoma10.1
44candidiasis10.1
45endocarditis10.1
46esophagitis10.1
47peritonitis10.1
48retinal detachment10.1
49retinitis10.1
50synostosis10.1

Graphical network of the top 20 diseases related to Autosomal Dominant Hyper Ige Syndrome:



Diseases related to autosomal dominant hyper ige syndrome

Symptoms for Autosomal Dominant Hyper Ige Syndrome

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Drugs & Therapeutics for Autosomal Dominant Hyper Ige Syndrome

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Drug clinical trials:

Search ClinicalTrials for Autosomal Dominant Hyper Ige Syndrome

Search NIH Clinical Center for Autosomal Dominant Hyper Ige Syndrome

Genetic Tests for Autosomal Dominant Hyper Ige Syndrome

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Genetic tests related to Autosomal Dominant Hyper Ige Syndrome:

id Genetic test Affiliating Genes
1 Autosomal Dominant Hyper Ige Syndrome21 STAT3

Anatomical Context for Autosomal Dominant Hyper Ige Syndrome

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MalaCards organs/tissues related to Autosomal Dominant Hyper Ige Syndrome:

32
Skin, Bone, Lung, T cells

Animal Models for Autosomal Dominant Hyper Ige Syndrome or affiliated genes

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Publications for Autosomal Dominant Hyper Ige Syndrome

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Articles related to Autosomal Dominant Hyper Ige Syndrome:

(show all 12)
idTitleAuthorsYear
1
Vertebral aspergillosis in a patient with autosomal-dominant hyper-IgE syndrome. (24197892)
2014
2
Bone Density and Fractures in Autosomal Dominant Hyper IgE Syndrome. (24402620)
2014
3
Recurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation. (25379309)
2014
4
Reduced bone density in patients with autosomal dominant hyper-IgE syndrome. (23606327)
2013
5
Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function. (23830147)
2013
6
Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism. (23623265)
2013
7
Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome. (23584561)
2013
8
Cutaneous findings in sporadic and familial autosomal dominant hyper-IgE syndrome: a retrospective, single-center study of 21 patients diagnosed using molecular analysis. (21703716)
2011
9
Invasive fungal disease in autosomal-dominant hyper-IgE syndrome. (20392475)
2010
10
Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome. (20584545)
2010
11
Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. (18337720)
2008
12
Autosomal Dominant Hyper IgE Syndrome (20301786)
1993

Variations for Autosomal Dominant Hyper Ige Syndrome

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Expression for genes affiliated with Autosomal Dominant Hyper Ige Syndrome

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Expression patterns in normal tissues for genes affiliated with Autosomal Dominant Hyper Ige Syndrome

Search GEO for disease gene expression data for Autosomal Dominant Hyper Ige Syndrome.

Pathways for genes affiliated with Autosomal Dominant Hyper Ige Syndrome

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Compounds for genes affiliated with Autosomal Dominant Hyper Ige Syndrome

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GO Terms for genes affiliated with Autosomal Dominant Hyper Ige Syndrome

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Products for genes affiliated with Autosomal Dominant Hyper Ige Syndrome

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Sources for Autosomal Dominant Hyper Ige Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet