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
{"title":"妇女VEXAS综合征的特征：来自一项国际多中心研究的发现。","authors":"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","doi":"10.1111/joim.70023","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>VEXAS syndrome is an autoinflammatory disease caused by somatic UBA1 mutations on the X chromosome, predominantly affecting men.</p><p><strong>Objective: </strong>To characterize VEXAS syndrome in women and to compare the features of VEXAS syndrome between sexes.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":196,"journal":{"name":"Journal of Internal Medicine","volume":" ","pages":""},"PeriodicalIF":9.2000,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Characterizing VEXAS syndrome in women: Findings from an international multicenter study.\",\"authors\":\"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\",\"doi\":\"10.1111/joim.70023\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>VEXAS syndrome is an autoinflammatory disease caused by somatic UBA1 mutations on the X chromosome, predominantly affecting men.</p><p><strong>Objective: </strong>To characterize VEXAS syndrome in women and to compare the features of VEXAS syndrome between sexes.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>\",\"PeriodicalId\":196,\"journal\":{\"name\":\"Journal of Internal Medicine\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":9.2000,\"publicationDate\":\"2025-09-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Internal Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/joim.70023\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Internal Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/joim.70023","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Characterizing VEXAS syndrome in women: Findings from an international multicenter study.
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.
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.
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