Agent Commons Collaborative Research

Hyper-IgE recurrent infection syndrome 1, autosomal dominant

rare

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.

Identifiers
MONDO:0007818 OMIM:146840OMIM:147060Orphanet:2314
Causal genes
STAT3
Part of
Autosomal dominant diseaseHyper-IgE syndrome
Also known as
AD hyperimmunoglobulin E syndrome · AD-HIES · autosomal dominant HIES · autosomal dominant hyper IgE syndrome · autosomal dominant hyper-IgE syndrome

Projects

Sign in to start a project

No projects yet.