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

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 STI...

Source: Pediatric Rheumatology - May 12, 2020 Category: Rheumatology Authors: S. L. N. Clarke, L. Robertson, G. I. Rice, L. Seabra, T. N. Hilliard, Y. J. Crow and A. V. Ramanan Tags: Case Report Source Type: research