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https://hdl.handle.net/11499/54801| Title: | Treatment of STING-associated vasculopathy with onset in infancy in patients carrying a novel mutation in the TMEM173 gene with the JAK3-inhibitor tofacitinib | Authors: | Tokgun, Pervin Elvan Karagenc, Nedim Karasu, Uğur Tokgun, Onur Turel, Samet Demiray, Aydın Akca, Hakan Yüksel, Selçuk |
Keywords: | STING–associated vasculopathy with onset in infancy tofacitinib V194L mutation adalimumab alanine aminotransferase aspartate aminotransferase colchicine ferritin indometacin Janus kinase 3 inhibitor leflunomide membrane protein methylprednisolone secukinumab tofacitinib transmembrane protein 173 unclassified drug adult arthropathy Article autoinflammatory disease biochemistry child copy number variation DNA extraction female follow up gene frequency gene mutation human infancy prediction prevalence psoriasis rash rheumatoid arthritis swelling thorax radiography vascular disease whole exome sequencing young adult |
Publisher: | Turkish League Against Rheumatism (TLAR) | 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. © 2023 Turkish League Against Rheumatism. All rights reserved. | URI: | https://doi.org/10.46497/ArchRheumatol.2023.9927 https://hdl.handle.net/11499/54801 |
ISSN: | 2618-6500 |
| Appears in Collections: | Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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