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Published In
Archives of Rheumatology
Volume 38 · Issue 3 · September 2023
Pages: 461-467
History
Published Online: September 30, 2023
This work is licensed under a Creative Commons Attribution 4.0 International License.
Pervin Elvan Tokgun
Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Türkiye
Nedim Karagenc
Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Türkiye
Uğur Karasu
Department of Internal Medicine, Division of Rheumatology, Pamukkale University Faculty of Medicine, Denizli, Türkiye
Onur Tokgun
Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Türkiye
Samet Turel
Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Türkiye
Aydın Demiray
Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Türkiye
Hakan Akca
Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Türkiye
Selçuk Yüksel
Department of Pediatric Nephrology and Pediatric Rheumatology, Pamukkale University Faculty of Medicine, Denizli, Türkiye
Pervin Elvan Tokgun, Nedim Karagenc, Uğur Karasu, Onur Tokgun, Samet Turel, Aydın Demiray, … Selçuk Yüksel. (2023). Treatment of STING-associated vasculopathy with onset in infancy in patients carrying a novel mutation in the TMEM173 gene with the JAK3-inhibitor tofacitinib. Archives of Rheumatology, 38(3), 461–467. https://doi.org/10.46497/ArchRheumatol.2023.9927
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.
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Article Info
Published In
Journal
Archives of Rheumatology
Volume / Issue
Volume 38 · Issue 3 · September 2023
Pages
461-467
History
Published Online
September 30, 2023
License
This work is licensed under a Creative Commons Attribution 4.0 International License.
Affiliations
1
Pervin Elvan Tokgun
Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Türkiye
2
Nedim Karagenc
Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Türkiye
3
Uğur Karasu
Department of Internal Medicine, Division of Rheumatology, Pamukkale University Faculty of Medicine, Denizli, Türkiye
4
Onur Tokgun
Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Türkiye
5
Samet Turel
Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Türkiye
6
Aydın Demiray
Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Türkiye
7
Hakan Akca
Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Türkiye
8
Selçuk Yüksel
Department of Pediatric Nephrology and Pediatric Rheumatology, Pamukkale University Faculty of Medicine, Denizli, Türkiye
Cite this Article
Pervin Elvan Tokgun, Nedim Karagenc, Uğur Karasu, Onur Tokgun, Samet Turel, Aydın Demiray, … Selçuk Yüksel. (2023). Treatment of STING-associated vasculopathy with onset in infancy in patients carrying a novel mutation in the TMEM173 gene with the JAK3-inhibitor tofacitinib. Archives of Rheumatology, 38(3), 461–467. https://doi.org/10.46497/ArchRheumatol.2023.9927
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