VEXAS syndrome.

Abstract excerpt

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a disorder discovered in 2020 that bridges haematology, immunology and genetics. VEXAS syndrome arises from somatic mutations in UBA1, which encodes an E1 ubiquitin-activating enzyme, acquired in haematopoietic stem cells. These mutations disrupt ubiquitin-dependent protein homeostasis, triggering proteotoxic and inflammatory stress that...

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