hyper-IgE recurrent infection syndrome 1, autosomal dominant

Findings

No curated finding names hyper-IgE recurrent infection syndrome 1, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• autosomal dominant disease
• hyper-IgE syndrome

Resolves to: hyper-IgE recurrent infection syndrome 1, autosomal dominant

Also called

AD hyperimmunoglobulin E syndromeAD-HIESautosomal dominant HIESautosomal dominant hyper IgE syndromeautosomal dominant hyper-IgE syndromeautosomal dominant hyperimmunoglobulin E syndromeBuckley syndromeHIES autosomal dominantHIES, autosomal dominanthyper 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