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

Authors :
Mayo-Juanatey, Adrián
Fernández-Llavador, María José
Fernández-Garcés, María del Mar
Valls-Pascual, Elia
Alegre-Sancho, Juan José
Source :
Reumatología Clínica. Jun2024, Vol. 20 Issue 6, p341-344. 4p.
Publication Year :
2024

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. [ABSTRACT FROM AUTHOR]

Details

Language :
Spanish
ISSN :
1699258X
Volume :
20
Issue :
6
Database :
Academic Search Index
Journal :
Reumatología Clínica
Publication Type :
Academic Journal
Accession number :
177965134
Full Text :
https://doi.org/10.1016/j.reuma.2024.05.003