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Blau syndrome (BS) is a rare autosomal dominant, autoinflammatory syndrome characterized by the clinical triad of granulomatous, recurrent uveitis, dermatitis and symmetric arthritis. Arthritis is usually a polyarticular exuberant synovitis and tenosynovitis and represents the characteristic phenotypic feature. Uveitis occurs in most patients and commonly evolves to a panuveitis. In the majority of patients, the disease is characterized by early onset, usually before 3-4years of age. The gene responsible for BS has been identified in the caspase recruitment domain gene NOD2/CARD15, and the most common mutations were found in codon 334 (R334Q and R334W). NOD2 is a member of a family of intracellular proteins with N-terminal caspase recruitment domains (CARDs). Since the first report of an association of the NOD2 variants with Crohn disease by Hugot et al, extensive studies have been focused on an association of NOD2 with inflammatory bowel disease (IBD), pediatric Blau syndrome, NOD2-associated autoinflammatory disease (NAID) and rheumatic disease.

PReS-FINAL-2201: A P268S NOD mutation in one Blau patient