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

Internet

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

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