" /> Hyper-ige syndrome 1, autosomal dominant, with recurrent infections - CISMeF





Preferred Label : Hyper-ige syndrome 1, autosomal dominant, with recurrent infections;

Symbol : HIES1;

CISMeF acronym : HIES1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hies, autosomal dominant; Job syndrome; Hyper-ige syndrome, autosomal dominant; Hyper-ige recurrent infection syndrome 1, autosomal dominant;

Description : Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the signal transducer and activator of transcription-3 gene (STAT3, 102582.0001);

Laboratory abnormalities : Increased serum IgE; Eosinophilia;

Prefixed ID : #147060;

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28/07/2025


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