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Review
. 2023 Sep 1;29(6):298-306.
doi: 10.1097/RHU.0000000000001905. Epub 2022 Oct 17.

VEXAS Syndrome-A Review of Pathophysiology, Presentation, and Prognosis

Matthew J Koster  1 , Matthew J Samec, Kenneth J Warrington
Affiliations
Review

VEXAS Syndrome-A Review of Pathophysiology, Presentation, and Prognosis

Matthew J Koster et al. J Clin Rheumatol. .

Abstract

VEXAS ( V acuoles, E 1 enzyme, X -linked, A utoinflammatory, S omatic) 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.

Trial registration: ClinicalTrials.gov NCT05027945.

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Conflict of interest statement

The authors declare no conflict of interest.

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Supplementary concepts

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