VEXAS
The Registry collects clinical data of patients affected by VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, caused by somatic mutations in UBA1 gene in hematopoietic progenitor cells.
The syndrome is characterized by inflammatory and hematologic symptoms in adult patients. The Registry will allow the characterization of this recently defined clinical entity, with regard to disease presentation, complications, long-term outcome and therapeutic management.