Abstract
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a newly identified disease caused by somatic mutations in the UBA1 gene resulting in refractory autoinflammatory features, frequently accompanied by cytopenias. Although the prevalence of this syndrome is yet unknown, understanding the clinical phenotype can assist clinicians in prompt recognition of cases among patients with glucocorticoid-responsive but immunosuppressive-resistant inflammatory symptoms. The pathophysiology, clinical presentation, diagnostic methods, treatment, and prognosis of VEXAS are herein reviewed.
Original language | English (US) |
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Pages (from-to) | 298-306 |
Number of pages | 9 |
Journal | Journal of Clinical Rheumatology |
Volume | 29 |
Issue number | 6 |
DOIs | |
State | Published - Sep 1 2023 |
Keywords
- VEXAS
- autoinflammatory
- pathophysiology
- prognosis
- vasculitis
ASJC Scopus subject areas
- Rheumatology