Síndrome de VEXAS: a propósito de una serie de 2 casos

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-06-01 DOI:10.1016/j.reuma.2024.05.003

Adrián Mayo-Juanatey , María José Fernández-Llavador , María del Mar Fernández-Garcés , Elia Valls-Pascual , Juan José Alegre-Sancho

引用次数: 0

Abstract

VEXAS syndrome is a rare entity secondary to UBA1 gene mutations, located on the X chromosome. This mutation generates, as a consequence, a characteristic vacuolation on haematopoietic stem-cells. It is characterized by multiple autoinflammatory and haematologic manifestations, which respond and end up being dependent on corticosteroid treatment. In this publication we present a 2-case series diagnosed at our hospital and make a brief literature review of the published evidence so far.

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VEXAS 综合征：2 例系列病例回顾

VEXAS 综合征是一种罕见的疾病，由位于 X 染色体上的 UBA1 基因突变引起。这种突变导致造血干细胞出现特征性空泡化。该病的特征是多种自身炎症和血液学表现，对皮质类固醇治疗有反应并最终依赖于皮质类固醇治疗。在这篇论文中，我们介绍了在我院确诊的两例系列病例，并对迄今为止已发表的证据进行了简要的文献综述。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.