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Ontology Browser
Term:
Hyper-IgE Recurrent Infection Syndrome 6 (DOID:9006485)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
hyper IgE syndrome +     
hyper IgE recurrent infection syndrome 1  
hyper IgE recurrent infection syndrome 2  
hyper IgE recurrent infection syndrome 3  
hyper IgE recurrent infection syndrome 4  
Hyper-IgE Recurrent Infection Syndrome 5  
Hyper-IgE Recurrent Infection Syndrome 6  
An autosomal dominant immunologic disorder characterized by early-childhood onset of severe refractory atopic dermatitis, IgE-mediated food and drug allergies, asthma, and eosinophilic esophagitis. Caused by heterozygous gain-of-function mutation in the STAT6 gene on chromosome 12q13.
immunodeficiency 35  

Synonyms
Exact Synonyms: HIES6 ;   Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
Primary IDs: MIM:620532
Definition Sources: MIM:620532

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