Lost in translation: cytoplasmic UBA1 and VEXAS syndrome
Blood（2022）
摘要
In this issue of Blood, Ferrada et al1 demonstrate that patients with vacuoles, E1-enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome caused by 1 of 3 canonical UBA1 mutations (p.Met41Val) have more systemic inflammatory syndromes, worse survival, and lower residual translation of the normal cytoplasmic UBA1 isoform UBA1b. This links VEXAS pathogenesis and severity to a loss of UBA1b function.
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