/hyper-IgE recurrent infection syndrome 1, autosomal dominant

hyper-IgE recurrent infection syndrome 1, autosomal dominant

Rare Disease

MONDO:0007818

Also Known As

hyper-IgE recurrent infection syndromehyperimmunoglobulin E-recurrent infection syndromeAD hyperimmunoglobulin E syndromeAD-HIESBuckley syndromeHIES autosomal dominantHIES, autosomal dominantJOB syndromeJob syndrome autosomal dominantJob's syndromeSTAT3 deficiencyautosomal dominant HIESautosomal dominant hyper IgE syndromeautosomal dominant hyper-IgE syndromeautosomal dominant hyperimmunoglobulin E syndromehyper Ig E syndrome, autosomal dominanthyper-IgE recurrent infection syndrome, autosomal dominanthyper-IgE syndrome, autosomal dominanthyperimmunoglobulin E recurrent infection syndrome, autosomal dominanthyperimmunoglobulin E syndrome type 1immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist

Definition

A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.