Özge BABA, Tuğba Ramaslı GÜRSOY
Turkish Archives of Pediatrics - 2026;61(3):275-277
STING-associated vasculopathy with onset in infancy (SAVI) is a type 1 interferonopathy due to the gain-of-function mutations of the stimulator of interferon gene (STING) that encode gene transmembrane protein 173 (STING1), which plays a key role in activating the type 1 interferon (IFN) response. Herein, a 15-year-9-month-old boy who presented with arthralgia in both ankles, chilblain-like rashes on his feet, and exercise-related dyspnea is presented. Treatment with ruxolitinib was initiated along with prednisolone. With treatment, the patient's symptoms of fever, cough, breathlessness, and acral vasculopathy improved, while repeated PFTs showed dramatic improvement in the first 3 months. The patient represents a unique example of the clinical efficacy of ruxolitinib in the treatment of lung disease associated with SAVI, despite delayed diagnosis.
