Article
VEXAS syndrome: A 2-case series report.
Reumatologia clinica - 1 Jan 2000
Mayo-Juanatey Adrián, Fernández-Llavador María José, Fernández-Garcés María Del Mar, Valls-Pascual Elia, Alegre-Sancho Juan José
Abstract excerpt
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...
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