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  1. Article

    Open Access

    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...

    S. L. N. Clarke, L. Robertson, G. I. Rice, L. Seabra in Pediatric Rheumatology (2020)