VEXAS syndrome manifests in older men with various symptoms, highlighting its complex nature and impact.
VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a rare autoinflammatory disorder that manifests in older men and is caused by somatic mutations in the UBA1 gene, which encodes ubiquitin-like modifier-activating enzyme E1.¹ Clinically, VEXAS syndrome is a multisystem disease characterized by constitutional symptoms, cutaneous and pulmonary disease, thromboembolic events, and myelodysplastic syndrome.²,³
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Tamba et al. (2026) studied this question.
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