Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome was recently identified by genotype-driven approach. This syndrome is characterised by the presence of somatic mutations affecting methionine-41 (p.Met41) in UBA1 gene. All the identified patients were adult males who had recurrent fevers, cytopenias, dysplastic bone marrow with vacuoles in myeloid and erythroid precursors, neutrophilic skin and lung tissue inflammation and often had treatment refractory and fatal disease course. The various phenotypes reported with VEXAS syndrome include relapsing polychondritis, giant cell arteritis, polyarteritis nodosa, Sweet’s syndrome, myelodysplastic syndrome and multiple myeloma.

中文翻译：

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VEXAS 综合征伴系统性红斑狼疮——扩大了相关疾病的范围

最近通过基因型驱动方法鉴定了液泡、E1 酶、X 连锁、自身炎症、体细胞 (VEXAS) 综合征。该综合征的特征是存在影响UBA1基因中甲硫氨酸 41 (p.Met41) 的体细胞突变。所有确定的患者都是成年男性，他们有反复发烧、血细胞减少、骨髓发育不良、骨髓和红系前体有空泡、中性粒细胞皮肤和肺组织炎症，并且经常有治疗难治和致命的病程。VEXAS 综合征报告的各种表型包括复发性多软骨炎、巨细胞动脉炎、结节性多动脉炎、Sweet 综合征、骨髓增生异常综合征和多发性骨髓瘤。