VEXAS syndrome: A 2-case series report.

Autor: Mayo-Juanatey A; Servicio de Reumatología, Hospital Universitari Doctor Peset, Valencia, Spain. Electronic address: adrianmayoju@gmail.com., Fernández-Llavador MJ; Servicio de Hematología y Hemoterapia, Hospital Universitari Doctor Peset, Valencia, Spain., Fernández-Garcés MDM; Servicio de Medicina Interna, Hospital Universitari Doctor Peset, Valencia, Spain., Valls-Pascual E; Servicio de Reumatología, Hospital Universitari Doctor Peset, Valencia, Spain., Alegre-Sancho JJ; Servicio de Reumatología, Hospital Universitari Doctor Peset, Valencia, Spain.
Jazyk: angličtina
Zdroj: Reumatologia clinica [Reumatol Clin (Engl Ed)] 2024 Jun-Jul; Vol. 20 (6), pp. 341-344. Date of Electronic Publication: 2024 Jun 25.
DOI: 10.1016/j.reumae.2024.05.006
Abstrakt: 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.
(Copyright © 2024 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.)
Databáze: MEDLINE
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