ORPHA:2314

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

Also called AD-HIES due to STAT3 deficiency, Autosomal dominant HIES due to STAT3 deficiency, Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency, Buckley syndrome, Job syndrome

Body system

Skin diseases

Inheritance pattern

Autosomal dominant

Typical age of onset

Infancy, Neonatal

Estimated prevalence

1-9 / 1 000 000 (Europe)

Rarity class

1-9 / 1 000 000

ORPHA:2314 is classified under "Skin diseases" in the Orphanet nomenclature.