Hyperimmunoglobulin E syndrome

Also known as: Job syndrome

Recurrent staphylococcal infections, eczema and high IgE.

Medical specialty: Pediatrics
Subspecialty: Pediatrics / Pediatric immunology
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, infancy
Gene(s) involved: DOCK8, PGM3, SPINK5, STAT3

Etiology & mechanism

STAT3 dominant-negative mutations.

Gene(s) involved (4)

DOCK8PGM3SPINK5STAT3

Symptoms & signs (6)

cold abscesseseczemaelevated igepneumonia with pneumatocelesretained teethscoliosis

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.