HIES
MCID: ATS059
MIFTS: 29

Autosomal Dominant Hyper Ige Syndrome (HIES) malady

Genetic diseases, Rare diseases, Immune diseases categories

Summaries for Autosomal Dominant Hyper Ige Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 hyper-ige syndrome, is related to job's syndrome and hyper ige syndrome. 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 bone, skin 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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20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS
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Classifications:

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


Aliases & Descriptions:

autosomal dominant hyper ige syndrome 20 44 21
hyper-ige syndrome 22 46
job's syndrome 22 63
ad-hies 20 44
hyperimmunoglobulin e recurrent infection syndrome, autosomal dominant 44
hyper-immunoglobulin e syndrome, autosomal dominant 63
hyperimmunoglobulin e-recurrent infection syndrome 22
hyper ig e syndrome, autosomal dominant 44
stat3-deficient hyper ige syndrome 20
ad hyperimmunoglobulin e syndrome 44
job syndrome autosomal dominant 44
hies autosomal dominant 44
job-buckley syndrome 22
buckley syndrome 22
stat3 deficiency 20
job’s syndrome 20
jobs syndrome 11
hie syndrome 22
job syndrome 22
hies 22


Related Diseases for Autosomal Dominant Hyper Ige Syndrome

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Autosomal Dominant Hyper Ige Syndrome

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21GeneTests
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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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34MalaCards
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MalaCards organs/tissues related to Autosomal Dominant Hyper Ige Syndrome:

34
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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53PubMed
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Articles related to Autosomal Dominant Hyper Ige Syndrome:

(show all 11)
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
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
8
Invasive fungal disease in autosomal-dominant hyper-IgE syndrome. (20392475)
2010
9
Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome. (20584545)
2010
10
Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. (18337720)
2008
11
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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2BioGPS, 16Gene 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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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
  • Antibodies

Sources for Autosomal Dominant Hyper Ige Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet