Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype

• Main Authors: S. L. N. Clarke (Author), L. Robertson (Author), G. I. Rice (Author), L. Seabra (Author), T. N. Hilliard (Author), Y. J. Crow (Author), A. V. Ramanan (Author)
• Format: Book
• Published: BMC, 2020-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background STING-associated vasculopathy with onset in infancy (SAVI) is a type 1 interferonopathy manifesting as a pulmonary and vascular syndrome resulting from gain-of-function mutations in TMEM173, the gene encoding STING. Familial reports in the literature are sparse. Case presentation...