PDF(Pubmed)
Abstract：
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an autoinflammatory disease caused by somatic variants in the UBA1 gene that lead to severe systemic inflammation and myelodysplastic syndrome. Although no standard therapy has been established yet, azacitidine and bone marrow transplantation have been reported to be promising possibilities; however, the indications for these treatments are problematic and not necessarily applicable to all patients. We previously reported the results of short-term treatment with tocilizumab (TCZ) and glucocorticoids in three patients with VEXAS syndrome. In this paper, we report that the combination of TCZ and glucocorticoids allowed the patients to continue treatment for at least one year without significant disease progression. Glucocorticoids were able to be reduced from the start of TCZ. Adverse events were herpes zoster, skin ulceration after cellulitis, and decreased blood counts. The results suggest the significance of this treatment as a bridge therapy for the development of future therapies.
摘要：
液泡,E1酶，X-linked,自身炎症,体细胞（VEXAS）综合征是由UBA1基因的体细胞变异引起的自身炎症性疾病，可导致严重的全身性炎症和骨髓增生异常综合征。虽然目前还没有建立标准的治疗方法，据报道，阿扎胞苷和骨髓移植是有希望的可能性；然而，这些治疗的适应症是有问题的，不一定适用于所有患者。我们先前报道了3例VEXAS综合征患者接受托珠单抗（TCZ）和糖皮质激素短期治疗的结果。在本文中,我们报道,TCZ和糖皮质激素的联合治疗使患者能够继续治疗至少1年,而无明显疾病进展.糖皮质激素能够从TCZ开始减少。不良事件是带状疱疹，蜂窝织炎后的皮肤溃疡，血细胞计数减少。结果表明，这种疗法作为未来疗法发展的桥梁疗法具有重要意义。
