Tumor Necrosis Factor Inhibitors Provide Longterm Clinical Benefits in Pediatric and Young Adult Patients with Blau Syndrome

To the Editor: Blau syndrome is an autoinflammatory disease caused by mutations in the NOD2 gene1. The initial symptoms of Blau syndrome usually include polyarthritis and rash followed by uveitis. In addition, various clinical manifestations beyond the classic clinical triad have been reported in patients with Blau syndrome2,3,4. Although controlling ocular and articular involvements are critical to improve prognosis, no specific therapy for Blau syndrome has yet been established. The use of thalidomide, immunosuppressives [methotrexate (MTX) or azathioprine], and biologic therapy [tumor necrosis factor-α (TNF-α) or interleukin (IL)-1β inhibitor] has been reported in corticosteroid-refractory cases1,4,5,6; however, the small number of patients with Blau syndrome in these studies and case reports makes drawing a definite conclusion difficult. To address these issues, we report a series of 6 patients (3 men and 3 women) with Blau syndrome who received biologic therapy between 2005 and 2013 at the Kagoshima University Hospital, Kagoshima, Japan. Clinical findings and laboratory data were collected from their medical records. No patient had achieved clinical remission with prior treatments, including nonsteroidal antiinflammatory drugs, MTX, and systemic … Address correspondence to Dr. H. Wakiguchi, Department of Pediatrics, Yamaguchi University Graduate School of Medicine, 1-1-1 Minamikogushi, Ube, Yamaguchi 755-8505, Japan. E-mail: hiroyuki{at}yamaguchi-u.ac.jp