Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation Burden

Abstract excerpt

OBJECTIVE: Vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a progressive systemic autoinflammatory disorder caused by somatic variants in UBA1 in blood. Previous analyses have shown discordant disease penetrance. In this study, we examine the associations between demographic features and UBA1 variant allele frequency (VAF) with disease manifestations. METHODS:...

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