Blau syndrome

Also known as: Early-onset sarcoidosis; Jabs syndrome

Granulomatous arthritis, uveitis and dermatitis in young children.

Medical specialty: Rheumatology
Subspecialty: Rheumatology / Autoinflammatory disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, before 4 years
Gene(s) involved: NOD2

Etiology & mechanism

NOD2 gain-of-function.

Gene(s) involved (1)

NOD2

Symptoms & signs (5)

boggy synovitiscamptodactylygranulomatous arthritisskin rashuveitis

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