[VEXAS syndrome - a chameleon of inflammatory syndromes].

Q4 Medicine
Praxis Pub Date : 2025-02-01 DOI:10.23785/PRAXIS.2025.02.009
Elisa Leggeri, Athina Pangalu, Florence Vallelian
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引用次数: 0

Abstract

Introduction: The VEXAS syndrome is a systemic autoinflammatory disease first described in 2020. It primarily affects older men and is caused by a somatic mutation in the UBA1 gene on the X chromosome, leading to dysfunction of the innate immune system. Symptoms include fever, weight loss, various hematological manifestations, and a broad spectrum of clinical symptoms, often including ocular manifestations. Diagnosis is based on the detection of the mutation. There is currently no standardized therapy, and mortality can be as high as 40 %.

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来源期刊
Praxis
Praxis Medicine-Medicine (all)
CiteScore
0.40
自引率
0.00%
发文量
146
审稿时长
12 weeks
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