Article

VEXAS anemia is a mosaic erythroblastopenia

2024-12-04

Abstract excerpt

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently discovered autoinflammatory disorder linked to somatic mutations in the UBA1 gene, resulting in a profound cytoplasm-restricted defect in ubiquitylation. The disease is characterized by a macrocytic anemia that remains poorly understood. To investigate the erythroid lineage in VEXAS, we conducted a comprehensive study combining in viv...

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Literature Corpus work: 1da1fe06-ad9b-5c2d-8ce6-2034fb6e6c1a
DOI: 10.1101/2024.12.02.623560

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