VEXAS syndrome: a newly discovered systemic rheumatic disorder

被引：3

作者：

Kucharz, Eugenisz J. ^{[1
,2
]}

机构：

[1] Med Univ Silesia, Dept Internal Med Rheumatol & Clin Immunol, Katowice, Poland

[2] Med Univ Silesia, Dept Internal Med Rheumatol & Clin Immunol, 45-47 Ziolowa St, PL-40635 Katowice, Poland

来源：

REUMATOLOGIA | 2023年 / 61卷 / 02期

关键词：

autoinflammatory diseases; somatic mutations; UBA1; gene; MANIFESTATIONS; MUTATIONS;

D O I：

10.5114/reum/163090

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：123 / 129

页数：7

共 39 条

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