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 Tokgun1
, Nedim Karagenc1, Uğur Karasu2, Onur Tokgun1, Samet Turel1, Aydın Demiray1, Hakan Akca1, Selçuk Yüksel3
1Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Türkiye
2Department of Internal Medicine, Division of Rheumatology, Pamukkale University Faculty of Medicine, Denizli, Türkiye
3Department of Pediatric Nephrology and Pediatric Rheumatology, Pamukkale University Faculty of Medicine, Denizli, Türkiye
Keywords: STING–associated vasculopathy with onset in infancy, tofacitinib, V194L mutation.
Abstract
Objectives: This study aimed to reveal the genetic background of patients in the two-generation family suffering from rheumatoid arthritis, psoriatic arthropathy pain, scratches, and bruises.
Patients and methods: A clinical exome sequencing analysis was performed in 10 individuals in the same family using the Sophia Genetics clinical exome solution kit.
Results: A novel V194L mutation in the TMEM173 gene was identified in three members of the family. Two of the family members were treated with the JAK3 inhibitor tofacitinib and recovered completely one month after the treatment.
Conclusion: The V194L mutation was reported for the first time in this study, and a positive response was achieved with tofacitinib.
Citation: Elvan Tokgun P, Karagenc N, Karasu U, Tokgun O, Turel S, Demiray A, et al. Treatment of STING-associated vasculopathy with onset in infancy in patients carrying a novel mutation in the TMEM173 gene with the JAK3-inhibitor tofacitinib. Arch Rheumatol 2023;38(3):461-467.
The study protocol was approved by the Pamukkale University Faculty of Medicine Ethics Committee (date: 03/02/2021, no: 26289). The study was conducted in accordance with the principles of the Declaration of Helsinki.
A written informed consent was obtained from each patient.
Concept: P.E.T., N.K.; Design: P.E.T., N.K., O.T., S.T., U.K., A.D., H.A., S.Y.; Supervision: N.K., S.Y., H.A.; Data collection and/or processing: P.E.T., N.K., O.T., S.T., U.K., A.D., H.A., S.Y.; Analysis and/or interpretation: P.E.T., N.K., O.T., S.T.; Literature search: P.E.T., N.K., O.T., S.T., U.K., A.D., H.A., S.Y.; Writing: P.E.T., N.K.; Critical review: P.E.T., N.K., O.T., S.T., U.K., A.D., H.A., S.Y.
The authors declared no conflicts of interest with respect to the authorship and/or publication of this article.
The authors received no financial support for the research and/or authorship of this article.
The data that support the findings of this study are available from the corresponding author upon reasonable request.