Kirino Yohei
Department of Stem Cell and Immune Regulation, Yokohama City University, Graduate School of Medicine, Japan.
Intern Med. 2025 Jan 1;64(1):25-30. doi: 10.2169/internalmedicine.3219-23. Epub 2024 Feb 1.
Vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome, caused by an acquired mutation in the ubiquitin-activating enzyme ubiquitin-like modifier activating enzyme 1 (UBA1), was discovered in 2020. Since then, many cases have been reported worldwide. Recently, we performed UBA1 genetic testing in suspected cases of VEXAS throughout Japan and investigated the clinical features of these cases. Most cases were elderly patients in their 70s with clinical features consistent with VEXAS syndrome, such as myelodysplastic syndrome, high-grade fever, skin rash, chondritis, and pulmonary infiltration. However, approximately half of the analyzed patients were negative for the UBA1 variant. As the concept of "acquired autoinflammatory diseases," including VEXAS syndrome, has gained popularity, the number of suspected cases is expected to increase. Currently, there are no established diagnostic or treatment guidelines for these conditions, and they need to be urgently developed. This review summarizes the clinical problems faced by patients with acquired autoinflammatory diseases, including VEXAS.
2020年发现了由泛素激活酶泛素样修饰激活酶1（UBA1）获得性突变引起的空泡、E1泛素激活酶、X连锁、自身炎症性、体细胞（VEXAS）综合征。从那时起，全球报告了许多病例。最近，我们在日本全国范围内对疑似VEXAS病例进行了UBA1基因检测，并调查了这些病例的临床特征。大多数病例为70多岁的老年患者，具有与VEXAS综合征一致的临床特征，如骨髓增生异常综合征、高热、皮疹、软骨炎和肺部浸润。然而，大约一半的分析患者UBA1变异为阴性。随着包括VEXAS综合征在内的“获得性自身炎症性疾病”概念的普及，疑似病例的数量预计会增加。目前，对于这些疾病尚无既定的诊断或治疗指南，急需制定。本综述总结了包括VEXAS在内的获得性自身炎症性疾病患者面临的临床问题。
