Characterizing VEXAS syndrome in women: Findings from an international multicenter study.

IF 9.2 2区医学 Q1 MEDICINE, GENERAL & INTERNAL

Journal of Internal Medicine Pub Date : 2025-09-23 DOI:10.1111/joim.70023

Rim Bourguiba, Valentin Lacombe, David Beck, Eduardo Martín-Nares, Vincent Jachiet, Thibault Comont, Joris Galland, Mael Heiblig, Alexandre Nguyen, Achille Aouba, Xavier Boulu, Alexandre Curie, Benjamin Terrier, Charles Bescond, Matthew Koster, Yohei Kirino, Olivier Kosmider, Arsene Mekininan, Sophie Georgin-Lavialle

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引用次数: 0

Abstract

Background: VEXAS syndrome is an autoinflammatory disease caused by somatic UBA1 mutations on the X chromosome, predominantly affecting men.

Objective: To characterize VEXAS syndrome in women and to compare the features of VEXAS syndrome between sexes.

Methods: We conducted an international, multicenter study, including 12 women and 301 men with genetically confirmed VEXAS syndrome. Data were collected using a standardized case report form. Bone marrow analyses and molecular investigations were performed locally.

Results: Clinical features, age at onset, UBA1 mutation type, variant allele frequency, and mortality were comparable between sexes. Acquired X monosomy was found in 6/8 tested women. Additional clonal mutations were present in 3/5 tested women. Three additional UBA1-mutated women without typical inflammation are described separately.

Conclusion: VEXAS syndrome affects women with clinical features similar to men, supporting the need for UBA1 testing in women with compatible presentations. X monosomy is common but not universal, suggesting alternative pathogenic mechanisms.

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妇女VEXAS综合征的特征：来自一项国际多中心研究的发现。

背景：VEXAS综合征是一种由X染色体上的体细胞UBA1突变引起的自身炎症性疾病，主要影响男性。目的：探讨女性腰痛综合征的特点，并比较腰痛综合征的性别特征。方法：我们进行了一项国际多中心研究，包括12名女性和301名男性，遗传证实为VEXAS综合征。使用标准化病例报告表收集数据。局部进行骨髓分析和分子调查。结果：临床特征、发病年龄、UBA1突变类型、变异等位基因频率和死亡率在性别间具有可比性。在6/8的测试女性中发现获得性X单体。在3/5的受测妇女中存在额外的克隆突变。另外三名没有典型炎症的uba1突变妇女分别被描述。结论：VEXAS综合征影响的女性临床特征与男性相似，支持对表现一致的女性进行UBA1检测的必要性。X单体是常见的，但不是普遍的，提示其他致病机制。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Internal Medicine 医学-医学：内科

CiteScore

22.00

自引率

0.90%

发文量

176

审稿时长

4-8 weeks

期刊介绍： JIM – The Journal of Internal Medicine, in continuous publication since 1863, is an international, peer-reviewed scientific journal. It publishes original work in clinical science, spanning from bench to bedside, encompassing a wide range of internal medicine and its subspecialties. JIM showcases original articles, reviews, brief reports, and research letters in the field of internal medicine.