{Reference Type}: Journal Article
{Title}: VEXAS syndrome: A 2-case series report.
{Author}: Mayo-Juanatey A;Fernández-Llavador MJ;Fernández-Garcés MDM;Valls-Pascual E;Alegre-Sancho JJ;
{Journal}: Reumatol Clin (Engl Ed)
{Volume}: 20
{Issue}: 6
{Year}: 2024 Jun-Jul 24
暂无{DOI}: 10.1016/j.reumae.2024.05.006
{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.