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.
Keyphrases
- bone marrow
- case report
- end stage renal disease
- ejection fraction
- newly diagnosed
- healthcare
- multiple sclerosis
- mesenchymal stem cells
- chronic kidney disease
- copy number
- prognostic factors
- depressive symptoms
- oxidative stress
- gene expression
- dendritic cells
- immune response
- physical activity
- dna methylation
- early life