MCID: ATS020
MIFTS: 28

Autosomal Recessive Hyper Ige Syndrome malady

Immune diseases category

Summaries for Autosomal Recessive Hyper Ige Syndrome

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 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

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

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Anatomical: Immune diseases


Aliases & Descriptions:

autosomal recessive hyper ige syndrome 42 20
hyper-immunoglobulin e syndrome, autosomal recessive 60
hyper ig e syndrome, autosomal recessive 42
ar hyperimmunoglobulin e syndrome 42
immunologic deficiency syndromes 60
hies autosomal recessive 42
dock8 deficiency 42
ar-hies 42


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

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Drugs & Therapeutics for Autosomal Recessive Hyper Ige Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Inferred drug relations via UMLS60/NDF-RT40:

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

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

32
Skin, T cells

Animal Models for Autosomal Recessive Hyper Ige Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Autosomal Recessive Hyper Ige Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.5TYK2, DOCK8, STAT3

Publications for Autosomal Recessive Hyper Ige Syndrome

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Genetic Variations for Autosomal Recessive Hyper Ige Syndrome

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Expression for genes affiliated with Autosomal Recessive 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 Recessive Hyper Ige Syndrome

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Pathways for genes affiliated with Autosomal Recessive Hyper Ige Syndrome

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Sources:
37NCBI BioSystems Database, 12EMD Millipore, 51QIAGEN, 29KEGG, 53Reactome, 52R&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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9.1TYK2, STAT3
29.1STAT3, TYK2
39.1TYK2, STAT3
4
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9.1STAT3, TYK2
59.1TYK2, STAT3
6
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9.1TYK2, STAT3
7
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9.1TYK2, STAT3
8
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9.1TYK2, STAT3
9
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9.1TYK2, STAT3
10
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9.1TYK2, STAT3
119.1STAT3, TYK2
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
179.1TYK2, STAT3
18
Immune response Oncostatin M signaling via JAK-Stat in human cells
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9.1TYK2, STAT3
199.1STAT3, TYK2
209.1TYK2, STAT3
21
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9.1TYK2, STAT3
22
Hide members
9.1TYK2, STAT3
239.1STAT3, TYK2
24
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9.1TYK2, STAT3
259.1TYK2, STAT3

Compounds for genes affiliated with Autosomal Recessive Hyper Ige Syndrome

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44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Autosomal Recessive Hyper Ige Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ifn-alpha449.3TYK2, STAT3
2vanadate449.2TYK2, STAT3
3gp 130449.2TYK2, STAT3
4phosphotyrosine449.1STAT3, TYK2
5wortmannin449.1TYK2, STAT3
6ethanol44 49 11 2412.0TYK2, STAT3
7ly294002448.8TYK2, STAT3

GO Terms for genes affiliated with Autosomal Recessive Hyper Ige Syndrome

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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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Sources for Autosomal Recessive 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