Krusche M, Ruffer N, Kötter I, Sockel K
Sektion für Rheumatologie und Entzündliche Systemerkrankungen in der III. Medizin, Universitätsklinikum Hamburg-Eppendorf (UKE), Hamburg, Deutschland.
Klinik für Rheumatologie und Immunologie, Klinikum Bad Bramstedt GmbH, Bad Bramstedt, Deutschland.
Z Rheumatol. 2025 Sep 17. doi: 10.1007/s00393-025-01712-1.
The VEXAS (vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic) syndrome is an acquired autoinflammatory disease, which is based on somatic mutations in the UBA1 gene and described as an hematoinflammatory disease. It is clinically expressed as an inflammatory systemic disease with general vegetative symptoms and organ manifestations of the skin, lungs and the hematopoietic system. The symptoms are not uncommonly refractory to conventional anti-inflammatory therapeutic agents. The disease is associated with a clearly increased mortality and morbidity.
VEXAS（空泡、E1酶、X连锁、自身炎症性、体细胞）综合征是一种获得性自身炎症性疾病，其基于UBA1基因的体细胞突变，被描述为一种血液炎症性疾病。临床上表现为一种伴有全身自主神经症状以及皮肤、肺部和造血系统器官表现的炎症性全身性疾病。这些症状通常对传统抗炎治疗药物无效。该疾病与明显升高的死亡率和发病率相关。
