A long-term follow-up of Japanese mother and her daughter with Blau syndrome: Effective treatment of anti-TNF inhibitors and useful diagnostic tool of joint ultrasound examination

Blau syndrome(BS) is an autosomal dominant autoinflammatory disease associated with NOD2gene mutations. It is characterized by arthritis, skin rash, and uveitis. Here, we report contrasting outcomes of a daughter and her mother with BS. Their long-term follow-up revealed the efficacy of anti-tumor necrosis factor inhibitor (TNF) with respect to BS. Joint findings of BS feature tenosynovitisover articular synovitison ultrasonography. BS might be one of the differential diagnoses of juvenile idiopathic arthritisand rheumatoid arthritis.