Defects in CARD15 are the cause of Blau syndrome, an autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash.
Alternative names
BS, ACUG
Blau syndrome
Granulomatosis, familial juvenile systemic
Arthrocutaneouveal granulomatosis
Jabs syndrome
Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial
Granulomatosis, familial, Blau type
Jabs houk bias syndrome
Synovitis granulomatous uveitis cranial neuropathies
Classification
- Periodic fever syndromes
Inheritance
Autosomal dominant
Cross references
Phenotypically related immunodeficiencies
IDR factfile for Familial cold urticaria and Muckle-Wells syndrome
IDR factfile for Chronic infantile neurological cutaneous and articular syndrome
Incidence
Incidence is not known.