Abstract: Objective To summarize the clinical characteristics of a boy with Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy(SAVI).Methods The clinical characteristics of a child with SAVI from Qilu Children's Hospital of Shandong University were collected.A literature search (search terms including'STING-associated vasculopathy with onset in infancy'、'STING'、'SAVI'、'autoinflammatory diseases'、and'interferonopathy')was conducted using CNKI、WanFang Data、VIP and EMBASE、PubMed to include recently published SAVI studies (from January 2010 to April 2018).Results A 11-year-old boy, often suffering from recurrent respiratory tract infection(RRTI), presented with coughing, decreased activity endurance and clubbed fingers. His erythrocyte sedimentation rate(ESR) was abnormally elevated. ANA and anticardiolipin antibody were positive, and the High-resolution computed tomography(HRCT) revealed interstitial lung diseases. Genetic mutation of TMEM173(c.463G>A,p.V155M)was confirmed by Sanger sequencing.It was effectively treated with toltinib 5 mg twice a day. At present, 30 cases of SAVI have been reported at home and abroad, including 1 in Chinese and 13 in English. SAVI is more common in males, mainly in infants and young children. The first symptoms were rash (58.0%), shortness of breath (41.9%) and limited activity (48.3%). Laboratory tests were often accompanied by elevated inflammatory markers and positive anti-nuclear antibodies. 70.9% of the pulmonary imaging showed interstitial pneumonia. SLE is easily misdiagnosed in clinic and can be diagnosed by gene examination. JAK inhibitors are effective.Conclusion SAVI is a rare autoinflammatory disease, which is a TMEM173 gene mutation. It is clinically characterized by decreased activity tolerance, growth restriction and interstitial lung disease. Janus kinase inhibitor(JAK) is effective in treating this disease.

Key words: clinical characteristics, Literature analysis, STING-associated vasculopathy with onset in infancy