HIES
MCID: ATS059
MIFTS: 31

Autosomal Dominant Hyper Ige Syndrome (HIES) malady

Genetic diseases, Rare diseases, Immune diseases categories
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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:21 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 19 42 20
Hyper-Ige Syndrome 21 44 62
Hyperimmunoglobulin E-Recurrent Infection Syndrome 21 62
Job-Buckley Syndrome 21 62
Buckley Syndrome 21 62
Job's Syndrome 21 62
Job Syndrome 21 62
Ad-Hies 19 42
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Dominant 42
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant 62
 
Hyper Ig E Syndrome, Autosomal Dominant 42
Stat3-Deficient Hyper Ige Syndrome 19
Ad Hyperimmunoglobulin E Syndrome 42
Job Syndrome Autosomal Dominant 42
Hies Autosomal Dominant 42
Stat3 Deficiency 19
Job’s Syndrome 19
Jobs Syndrome 10
Hie Syndrome 21
Hies 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases


Related Diseases for Autosomal Dominant Hyper Ige Syndrome

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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

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:

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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 Syndrome20 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

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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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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet