Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: A comprehensive review of cases across different ethnicities

• Published in: European journal of internal medicine Vol. 138; pp. 112 - 120
• Main Authors: Zhu, Yixiang Yves-Jean, Beck, David Benjamin, Dieudonné, Yannick, Georgin-Lavialle, Sophie
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.08.2025
• Subjects: Autoinflammatory diseases; Epidemiologic methods; Ethnicity; Genetic Diseases, X-Linked - ethnology; Genetic Diseases, X-Linked - genetics; Geographic distribution; Hereditary Autoinflammatory Diseases - ethnology; Hereditary Autoinflammatory Diseases - genetics; Humans; Mutation; Myelodysplastic Syndromes; Skin Diseases, Genetic; Somatic mutation; Ubiquitin-Activating Enzymes - genetics; Ubiquitin-proteasome system; Somatic mutation; Autoinflammatory diseases; Geographic distribution; Ubiquitin-proteasome system; Epidemiologic methods

•VEXAS is more described in Caucasians but has a broad global distribution.•The disease should be investigated regardless of patients’ origin or ethnicity.•The disparity highlights challenges in accessing genetic testing in some countries. Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VE...