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Updated: Jun 23, 2025

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Published on: June 15, 2020
VEXAS syndrome: A 2-case series report
Adrián Mayo-Juanatey1, María José Fernández-Llavador2, María Del Mar Fernández-Garcés3
1Servicio de Reumatología, Hospital Universitari Doctor Peset, Valencia, Spain.
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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