Treatment of STING-associated vasculopathy with onset in infancy in patients carrying a novel mutation in the TMEM173 gene with the JAK3-inhibitor tofacitinib

Objectives: This study aimed to reveal the genetic background of patients in two-generation family suffering from rheumatoid arthritis, psoriatic arthropathy pain, scratches, and bruises. Patients methods: A clinical exome sequencing analysis was performed 10 individuals same using Sophia Genetics solution kit. Results: novel V194L mutation TMEM173 gene identified three members family. Two were treated with JAK3 inhibitor tofacitinib recovered completely one month after treatment. Conclusion: The reported for first time this study, a positive response achieved tofacitinib.