Myelodysplasia in VEXAS syndrome.

Abstract excerpt

ABSTRACT: VEXAS (vacuoles, E1 enzyme, X linked, autoinflammatory, somatic) syndrome is a clonal hematoinflammatory disorder affecting older, predominantly male patients, characterized by systemic inflammation and progressive bone marrow failure. It is caused by somatic mutations in ubiquitin-activating enzyme E1 (UBA1), an X-linked gene, essential for initiating cellular ubiquitination. Loss-of-function...

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