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CC BY 4.0 · Glob Med Genet 2023; 10(03): 133-143
DOI: 10.1055/s-0043-1770958
Review Article

VEXAS Syndrome—Review

Yue Zhang
1   Department of Hematology, General Hospital, Tianjin Medical University, Tianjin, China
,
Xifeng Dong
1   Department of Hematology, General Hospital, Tianjin Medical University, Tianjin, China
,
Huaquan Wang
1   Department of Hematology, General Hospital, Tianjin Medical University, Tianjin, China
› Author Affiliations Funding This work was supported by grants from the National Natural Science Foundation of China (No. 81170472), Key Technology Research and Development Program of Tianjin China (18ZXDBSY00140).
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Abstract

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly defined refractory adult-onset autoinflammatory syndrome caused by somatic mutations in the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene in hematopoietic stem and progenitor cells, resulting in a shift in UBA1 isoform expression. Thus, patients develop a spectrum of systemic inflammatory manifestations and hematologic symptoms. To date, patients respond poorly to immune suppressive drugs, except high-dose glucocorticoids, and no treatment guidelines have been established. Given the high mortality rate, VEXAS syndrome needs to be taken seriously by physicians in all specialties. This article aims to describe the key features, pathogenesis, and clinical manifestations of VEXAS syndrome to better understand the targeted treatment and improve the prognosis of VEXAS syndrome.

Keywords

VEXAS syndrome - UBA1 - vacuoles - autoinflammatory - hematological disorders


Publication History

Article published online:
10 July 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

Georg Thieme Verlag KG
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