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 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 famil...

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Detalles Bibliográficos
Autores principales: Tokgun, Pervin Elvan, Karagenc, Nedim, Karasu, Uğur, Tokgun, Onur, Turel, Samet, Demiray, Aydın, Akca, Hakan, Yüksel, Selçuk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Turkish League Against Rheumatism 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10689023/
https://www.ncbi.nlm.nih.gov/pubmed/38046254
http://dx.doi.org/10.46497/ArchRheumatol.2023.9927
Descripción
Sumario: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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