National Institutes of Health.
Blood. 2021 Jul 1;137(26):3591-3594. doi: 10.1182/blood.2021011455.
VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a monogenic disease of adulthood caused by somatic mutations in UBA1 in hematopoietic progenitor cells. Patients develop inflammatory and hematologic symptoms. Myeloid-driven autoinflammation and progressive bone marrow failure lead to substantial morbidity and mortality. Effective medical treatments need to be identified. Reports in the current issue of Blood describe novel UBA1 genetic variants, treatment options, and insight into disease pathophysiology. VEXAS syndrome represents a prototype for a new class of diseases.
VEXAS 综合征（空泡、E1 酶、X 连锁、自身炎症、体细胞）是一种由造血祖细胞中 UBA1 的体细胞突变引起的成人单基因疾病。患者会出现炎症和血液学症状。髓系驱动的自身炎症和进行性骨髓衰竭导致发病率和死亡率显著增加。需要确定有效的治疗方法。本期《Blood》杂志报道了新的 UBA1 基因突变、治疗选择以及对疾病病理生理学的深入了解。VEXAS 综合征是一类新疾病的典型代表。
