Decoding VEXAS syndrome: emerging insights into pathogenesis and clinical management.

Abstract excerpt

PURPOSE OF REVIEW: VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a newly discovered, adult-onset, hemato-inflammatory disease driven by clonal dominance of pro-inflammatory hematopoietic cells bearing a somatic mutation in the UBA1 gene. This review aims to integrate and discuss the most recent insights into the evolving understanding of VEXAS pathogenesis and clinical management....

Topics

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