Treatment of STING-associated vasculopathy with onset in infancy in patients carrying a novel mutation in the TMEM173 gene with the JAK3-inhibitor tofacitinib.
Pervin Elvan TokgünNedim KaragencUgur KarasuOnur TokgünSamet TurelAydın DemirayHakan AkcaSelcuk YukselPublished in: Archives of rheumatology (2023)
The V194L mutation was reported for the first time in this study, and a positive response was achieved with tofacitinib.