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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.

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References

    1. Beck DB, Ferrada MA, Sikora KA, et al. . Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. N Engl J Med 2020; 383: 2628–2638, DOI: 10.1056/NEJMoa2026834. - DOI - PMC - PubMed
    1. Vitale A, Caggiano V, Bimonte A. VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases. Intern Emerg Med 2023; 18: 711–722, DOI: 10.1007/s11739-023-03193-z. - DOI - PMC - PubMed
    1. Templé M, Kosmider O. VEXAS syndrome: a novelty in MDS landscape. Diagnostics (Basel) 2022; 12: 1590, DOI: 10.3390/diagnostics12071590. - DOI - PMC - PubMed
    1. Templé M, Duroyon E, Croizier C, et al. . Atypical slice site mutations causing VEXAS syndrome. Rheumatology (Oxford) 2021; 60: e435-e437, DOI: 10.1093/rheumatology/keab524. - DOI - PubMed
    1. Stiburkova B, Pavelcova K, Belickova M, et al. . Novel somatic UBA1 variant in a patient with VEXAS syndrome. Arthritis Rheumatol 2023, DOI: 10.1002/art.42471 [Online ahead of print]. - DOI - PMC - PubMed

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