jak3抑制剂tofacitinib治疗婴儿期TMEM173基因突变患者的sting相关血管病变

IF 1.1 4区医学 Q4 Medicine

Archives of rheumatology Pub Date : 2023-02-03 eCollection Date: 2023-09-01 DOI:10.46497/ArchRheumatol.2023.9927

Pervin Elvan Tokgun, Nedim Karagenc, Uğur Karasu, Onur Tokgun, Samet Turel, Aydın Demiray, Hakan Akca, Selçuk Yüksel

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引用次数: 0

摘要

目的:本研究旨在揭示两代家族类风湿关节炎、银屑病关节病疼痛、刮伤、瘀伤患者的遗传背景。患者和方法:使用Sophia Genetics临床外显子组溶液试剂盒对同一家族的10名个体进行临床外显子组测序分析。结果:在该家族的三名成员中发现了一种新的TMEM173基因V194L突变。两名家庭成员接受JAK3抑制剂tofacitinib治疗，并在治疗后一个月完全康复。结论:本研究首次报道了V194L突变，托法替尼治疗获得了阳性反应。

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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 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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来源期刊

Archives of rheumatology Medicine-Rheumatology

CiteScore

2.00

自引率

9.10%

发文量

期刊介绍： The Archives of Rheumatology is an official journal of the Turkish League Against Rheumatism (TLAR) and is published quarterly in March, June, September, and December. It publishes original work on all aspects of rheumatology and disorders of the musculoskeletal system. The priority of the Archives of Rheumatology is to publish high-quality original research articles, especially in inflammatory rheumatic disorders. In addition to research articles, brief reports, reviews, editorials, letters to the editor can also be published. It is an independent peer-reviewed international journal printed in English. Manuscripts are refereed by a "double-blind peer-reviewed" process for both referees and authors. Editorial Board of the Archives of Rheumatology works under the principles of The World Association of Medical Editors (WAME), the International Council of Medical Journal Editors (ICMJE), and Committee on Publication Ethics (COPE).