Abstract
BACKGROUND: Stimulator of interferon gene (STING)-associated vasculopathy with onset in infancy (SAVI), caused by gain-of-function mutations in human transmembrane protein 173 (TMEM173), is characterized by widespread chronic inflammation primarily affecting the skin and lungs. Although SAVI is an inflammatory disease, typical anti-inflammatory agents have limited or no effect. METHODS AND RESULTS: A 1-year-old boy presented with recurrent facial rashes since he was 8 months. Moreover, he suffered from recurrent oral ulcers, chronic cough, and failure to thrive. Laboratory parameters showed elevated erythrocyte sedimentation rate (ESR) and immunoglobulin levels. Chest high-resolution computed tomography (HRCT) showed interstitial lung disease (ILD). Whole-exome sequencing revealed a heterozygous mutation in the TMEM173 gene (c.463G > A, p.V155M). Ultimately, the patient was diagnosed with SAVI. Tofacitinib was initiated at the age of 19 months, resulting in the alleviation of facial rashes and improvement of ILD within 3 months. CONCLUSION: SAVI is a difficult-to-treat type I interferonopathy. We hope that JAKi treatment will prove valuable for SAVI patients.