Related Experiment Video
Updated: Jan 17, 2026
Demystifying Venous Excess Ultrasound (VExUS): Image Acquisition and Interpretation
Published on: May 16, 2025
Characterizing VEXAS syndrome in women: Findings from an international multicenter study
Rim Bourguiba1,2, Valentin Lacombe3,4, David Beck5
1Internal Medicine Department, Tenon Hospital, Sorbonne University, DMU 3iD, CEREMAIA, ERN RITA, Paris, France.
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.
More Related Videos
12:34Collection, Isolation, and Flow Cytometric Analysis of Human Endocervical Samples
Published on: July 6, 2014
07:20Intraoperative Detection of Subtle Endometriosis: A Novel Paradigm for Detection and Treatment of Pelvic Pain Associated with the Loss of Peritoneal Integrity
Published on: December 21, 2012
Related Concept Videos
01:30Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
01:24Disorders of the Female Reproductive System
01:08Prevalence and Incidence
Prevalence indicates the proportion of individuals in a population who have a specific disease or health...
01:30Acute Coronary Syndrome III: Diagnostic Studies
01:17Irritable Bowel Syndrome I: Introduction
IBS is a chronic condition that can persist over a long period or recur frequently.
The pathogenesis of IBS involves a complex interplay of the following factors:
Altered...
01:20Venous Thrombosis II: Clinical Manifestations and Diagnostic Studies