2025/09/23 by R. Bourguiba, Valentin Lacombe, David B. Beck +16 · 1 voice
Medicine · #Congenital Ear and Nasal Anomalies #Osteomyelitis and Bone Disorders Research #Otitis Media and Relapsing Polychondritis
paper · doi:10.1111/joim.70023
openalex publication_date 2025/09/23 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/22
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.