Matsuda T, Kambe N, Ueki Y, et al. - This study was intended to obtain clinical information and NOD2 mutation data on patients with Blau syndrome and to assess their prognosis. Researchers examined 50 individuals with NOD2 mutations. They assessed the activity of each NOD2 mutant in HEK293 cells by reporter assay. They obtained clinical information from medical records through the attending physicians. The results recognize that severe joint contractures and blindness may occur whether diagnosis and appropriate treatment are delayed in patients with Blau syndrome. The data consider that early treatment with a biologic agent may improve the prognosis.