VEXAS: A review of current understandings and emerging treatment strategies.

Abstract excerpt

VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a late-onset autoinflammatory disorder, typically affecting males, caused by somatic mutations in the X-linked gene UBA1 encoding the E1 ubiquitin-activating enzyme. These mutations result in defective ubiquitination and dysregulation of protein degradation, leading to Endoplasmic Reticulum stress and activation of innate immune...

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