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Article

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

European journal of internal medicine - 1 Aug 2025

Zhu Yixiang Yves-Jean, Beck David Benjamin, Dieudonné Yannick, Georgin-Lavialle Sophie

Abstract excerpt

OBJECTIVES: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) is an autoinflammatory disease associated with somatic mutations in the UBA1 gene. Although the disease has been described in many different countries, no studies have investigated the origin of patients to determine if the disease is universal across ancestries. The aim of this study is to investigate the distribution of VEXAS syndrome...

Read the complete abstract on PubMed

Topics

Humans
Ubiquitin-Activating Enzymes
Mutation
Hereditary Autoinflammatory Diseases
Ethnicity
Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Myelodysplastic Syndromes

Skin Diseases, Genetic

Source

Identifiers

PMID: 40441957
DOI: 10.1016/j.ejim.2025.05.023

Genes

UBA1

Provenance

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