Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation.
Tomoko MatsudaNaotomo KambeYoko UekiNobuo KanazawaKazushi IzawaYoshitaka HondaAtsushi KawakamiSyuji TakeiKyoko TonomuraMasami InoueHiroko KobayashiIkuo OkafujiYoshihiko SakuraiNaoki KatoYuta MaruyamaYuzaburo InoueYoshikazu OtsuboTeruhiko MakinoSatoshi OkadaIchiro KobayashiMasato YashiroShusaku ItoHiroshi FujiiYasuhiro KondoNami OkamotoShuichi ItoNaomi IwataUtako KanekoMototsugu DoiJunichi HosokawaOsamu OharaMegumu K SaitoRyuta Nishikomorinull nullnull nullPublished in: Annals of the rheumatic diseases (2020)
In patients with Blau syndrome, severe joint contractures and blindness may occur if diagnosis and appropriate treatment are delayed. Early treatment with a biologic agent may improve the prognosis.