1. Síndrome de VEXAS: a propósito de una serie de 2 casos.
- Author
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Mayo-Juanatey, Adrián, Fernández-Llavador, María José, Fernández-Garcés, María del Mar, Valls-Pascual, Elia, and Alegre-Sancho, Juan José
- Subjects
- *
LITERATURE reviews , *X chromosome , *GENETIC mutation , *CORTICOSTEROIDS , *HOSPITALS - 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]
- Published
- 2024
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