MCID: ATS020
MIFTS: 26

Autosomal Recessive Hyper Ige Syndrome malady

Immune category

Summaries for Autosomal Recessive Hyper Ige Syndrome

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Autosomal recessive hyper ige syndrome (ar-hies) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin e (ige), recurrent staphylococcal skin abscesses, and recurrent pneumonia. the same features are also seen in the more frequent autosomal dominant hies syndrome. ar-hies accounts for only a small minority of hies cases, with about 130 affected families reported so far.in contrast to ad-hies, the ar variant is further characterized by extreme hypereosinophilia (increase in the eosinophil count in the bloodstream); susceptibility to viral infections such as herpes simplex and molluscum contagiosum; involvement of the central nervous system; t-cell defects; and a high death rate. the dental, skeletal, connective tissue, and facial features present in ad-hies are absent in ar-hies. ar-hies is inherited in an autosomal recessive fashion and is caused by mutations in the dock8 gene. last updated: 1/14/2014

MalaCards: Autosomal Recessive Hyper Ige Syndrome, also known as hyper-immunoglobulin e syndrome, autosomal recessive, is related to hyper ige syndrome and primary immunodeficiency disease. An important gene associated with Autosomal Recessive Hyper Ige Syndrome is DOCK8 (dedicator of cytokinesis 8), and among its related pathways are Development PDGF signaling via STATs and NF-kB and Jak-STAT signaling pathway. The drugs cytomegalovirus immune globulin and immunoglobulins and the compounds ifn-alpha and vanadate have been mentioned in the context of this disorder. Affiliated tissues include skin and t cells, and related mouse phenotype hematopoietic system.

Aliases & Classifications for Autosomal Recessive Hyper Ige Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 61UMLS
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Classifications:

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


Aliases & Descriptions:

autosomal recessive hyper ige syndrome 43 20
hyper-immunoglobulin e syndrome, autosomal recessive 61
hyper ig e syndrome, autosomal recessive 43
ar hyperimmunoglobulin e syndrome 43
immunologic deficiency syndromes 61
hies autosomal recessive 43
dock8 deficiency 43
ar-hies 43


Related Diseases for Autosomal Recessive Hyper Ige Syndrome

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



Diseases related to autosomal recessive hyper ige syndrome

Clinical Features for Autosomal Recessive Hyper Ige Syndrome

Drugs & Therapeutics for Autosomal Recessive Hyper Ige Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Autosomal Recessive Hyper Ige Syndrome

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Autosomal Recessive Hyper Ige Syndrome

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

id Genetic test Affiliating Genes
1 Autosomal Recessive Hyper Ige Syndrome20 DOCK8

Anatomical Context for Autosomal Recessive Hyper Ige Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Autosomal Recessive Hyper Ige Syndrome:

33
Skin, T cells

Animal Models for Autosomal Recessive Hyper Ige Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Autosomal Recessive Hyper Ige Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.5TYK2, DOCK8, STAT3

Publications for Autosomal Recessive Hyper Ige Syndrome

Genetic Variations for Autosomal Recessive Hyper Ige Syndrome

Expression for genes affiliated with Autosomal Recessive Hyper Ige Syndrome

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

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

Pathways for genes affiliated with Autosomal Recessive Hyper Ige Syndrome

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 52QIAGEN, 30KEGG, 54Reactome, 53R&D Systems, 4Cell Signaling Technology
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Pathways related to Autosomal Recessive Hyper Ige Syndrome according to GeneCards/GeneDecks:

(show all 25)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Development PDGF signaling via STATs and NF-kB
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9.1STAT3, TYK2
29.1TYK2, STAT3
39.1TYK2, STAT3
4
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9.1STAT3, TYK2
59.1STAT3, TYK2
6
Hide members
9.1STAT3, TYK2
7
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9.1TYK2, STAT3
8
Hide members
9.1TYK2, STAT3
9
Hide members
9.1TYK2, STAT3
10
Hide members
9.1TYK2, STAT3
119.1TYK2, STAT3
12
G-protein signaling Ras family GTPases in kinase cascades (scheme)
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9.1TYK2, STAT3
139.1STAT3, TYK2
14
Development Thrombopoetin signaling via JAK-STAT pathway
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9.1TYK2, STAT3
159.1TYK2, STAT3
169.1STAT3, TYK2
179.1STAT3, TYK2
18
Immune response Oncostatin M signaling via JAK-Stat in human cells
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9.1TYK2, STAT3
199.1STAT3, TYK2
209.1STAT3, TYK2
21
Hide members
9.1STAT3, TYK2
22
Hide members
9.1TYK2, STAT3
239.1TYK2, STAT3
24
Hide members
9.1TYK2, STAT3
259.1TYK2, STAT3

Compounds for genes affiliated with Autosomal Recessive Hyper Ige Syndrome

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Autosomal Recessive Hyper Ige Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ifn-alpha459.3STAT3, TYK2
2vanadate459.2STAT3, TYK2
3gp 130459.2STAT3, TYK2
4phosphotyrosine459.1STAT3, TYK2
5wortmannin459.1STAT3, TYK2
6ethanol45 50 11 2412.0STAT3, TYK2
7ly294002458.8STAT3, TYK2

GO Terms for genes affiliated with Autosomal Recessive Hyper Ige Syndrome

Sources:
16Gene Ontology
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Biological processes related to Autosomal Recessive Hyper Ige Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine-mediated signaling pathwayGO:0192219.1TYK2, STAT3

Products for genes affiliated with Autosomal Recessive Hyper Ige Syndrome

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  • Antibodies

Sources for Autosomal Recessive Hyper Ige Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet