MCID: ATS059
MIFTS: 29

Autosomal Dominant Hyper Ige Syndrome malady

Immune diseases category

Summaries for Autosomal Dominant Hyper Ige Syndrome

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42NIH Rare Diseases, 19GeneReviews, 32MalaCards
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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: Autosomal Dominant Hyper Ige Syndrome, also known as ad-hies, is related to job's syndrome and hyperimmunoglobulin syndrome. An important gene associated with Autosomal Dominant Hyper Ige Syndrome is STAT3 (signal transducer and activator of transcription 3 (acute-phase response factor)), and among its related pathways are Leishmaniasis and Development PDGF signaling via STATs and NF-kB. The compounds ifn-alpha and sp 600125 have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and lung.

GeneReviews summary for higes

Aliases & Classifications for Autosomal Dominant Hyper Ige Syndrome

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60UMLS, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Immune diseases


Aliases & Descriptions:

autosomal dominant hyper ige syndrome 19 42 20
ad-hies 19 42
hyperimmunoglobulin e recurrent infection syndrome, autosomal dominant 42
hyper-immunoglobulin e syndrome, autosomal dominant 60
hyper ig e syndrome, autosomal dominant 42
stat3-deficient hyper ige syndrome 19
ad hyperimmunoglobulin e syndrome 42
hies autosomal dominant 42
job’s syndrome 19
stat3 deficiency 19
job's syndrome 60


Related Diseases for Autosomal Dominant Hyper Ige Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Autosomal Dominant Hyper Ige Syndrome:



Diseases related to autosomal dominant hyper ige syndrome

Clinical Features for Autosomal Dominant Hyper Ige Syndrome

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Drugs & Therapeutics for Autosomal Dominant Hyper Ige Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Autosomal Dominant Hyper Ige Syndrome

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20GeneTests
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Genetic tests related to Autosomal Dominant Hyper Ige Syndrome:

id Genetic test Affiliating Genes
1 Autosomal Dominant Hyper Ige Syndrome20 STAT3

Anatomical Context for Autosomal Dominant Hyper Ige Syndrome

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32MalaCards
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MalaCards organs/tissues related to Autosomal Dominant Hyper Ige Syndrome:

32
Bone, Skin, 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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50PubMed
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Articles related to Autosomal Dominant Hyper Ige Syndrome:

(show all 14)
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
Reduced bone density in patients with autosomal dominant hyper-IgE syndrome. (23606327)
2013
4
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
5
Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism. (23623265)
2013
6
Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome. (23584561)
2013
7
Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. (22751495)
2012
8
Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES). (22981789)
2012
9
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
10
Invasive fungal disease in autosomal-dominant hyper-IgE syndrome. (20392475)
2010
11
Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome. (20584545)
2010
12
Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. (18337720)
2008
13
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. (10053178)
1999
14
Autosomal Dominant Hyper IgE Syndrome (20301786)
1993

Genetic 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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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Autosomal Dominant Hyper Ige Syndrome

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Pathways for genes affiliated with Autosomal Dominant Hyper Ige Syndrome

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29KEGG, 37NCBI BioSystems Database, 12EMD Millipore, 51QIAGEN, 52R&D Systems
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Pathways related to Autosomal Dominant Hyper Ige Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1IL17A, STAT3
2
Development PDGF signaling via STATs and NF-kB
Hide members
9.1IL17A, STAT3
3
Mucin expression in CF via IL-6, IL-17 signaling pathways
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9.1STAT3, IL17A
4
Hide members
9.1IL17A, STAT3
5
Cytokine production by Th17 cells in CF (Mouse model)
9.1IL17A, STAT3

Compounds for genes affiliated with Autosomal Dominant Hyper Ige Syndrome

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44Novoseek, 59Tocris Bioscience, 28IUPHAR, 24HMDB
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Compounds related to Autosomal Dominant Hyper Ige Syndrome according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1ifn-alpha449.4IL17A, STAT3
2sp 60012544 5910.4IL17A, STAT3
3ibmx44 28 5911.4IL17A, STAT3
4curcumin449.4STAT3, IL17A
5retinoid449.4IL17A, STAT3
6rantes449.3IL17A, STAT3
7sb 20358044 5910.3IL17A, STAT3
8pd 98,059449.3STAT3, IL17A
9ly294002449.2IL17A, STAT3
10actinomycin d449.2IL17A, STAT3
11phosphoinositide449.1STAT3, IL17A
12thymidine44 2410.1IL17A, STAT3
13cyclosporin a44 28 5911.0IL17A, STAT3
14pge2448.8IL17A, STAT3

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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Autosomal Dominant Hyper Ige Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet