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.
摘要：
VEXAS综合征是UBA1基因突变继发的罕见实体，位于X染色体上。这种突变产生，因此，造血干细胞上的特征性空泡。它的特点是多种自身炎症和血液学表现，有反应并最终依赖皮质类固醇治疗。在本出版物中，我们介绍了在我们医院诊断的2例病例系列，并对迄今为止已发表的证据进行了简短的文献回顾。
