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Review
. 2023;61(2):123-129.
doi: 10.5114/reum/163090. Epub 2023 May 10.

VEXAS syndrome: a newly discovered systemic rheumatic disorder

Eugenisz J Kucharz  1
Affiliations
Review

VEXAS syndrome: a newly discovered systemic rheumatic disorder

Eugenisz J Kucharz. Reumatologia. 2023.

Abstract

VEXAS syndrome is an adult-onset autoinflammatory disease associated with hematologic symptoms. The disease affects primarily males, and leads to death of a significant proportion of the patients. VEXAS syndrome is caused by a somatic mutation of the UBA1 gene in hematopoietic progenitor cells. The clinical picture of the syndrome consists of a number of organ manifestations including those akin to rheumatic diseases, arthritis, myalgia, vasculitis and chondritis.

Keywords: UBA1 gene; autoinflammatory diseases; somatic mutations.

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Conflict of interest statement

The author declares no conflict of interest.

References

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