VEXAS syndrome

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.

Automated summary

VEXAS syndrome is a monogenic disease of adulthood caused by somatic mutations in UBA1, resulting in inflammatory and hematologic symptoms. Novel UBA1 genetic variants and treatment options were discussed in the recent issue of Blood, shedding light on disease pathophysiology. VEXAS syndrome serves as a prototype for a new class of diseases.