VEXAS syndrome - PubMed
4 hours ago
- #Autoinflammatory disease
- #VEXAS syndrome
- #UBA1 mutation
- VEXAS syndrome is a recently discovered disorder that connects hematology, immunology, and genetics.
- It is caused by somatic mutations in the UBA1 gene in hematopoietic stem cells, disrupting protein homeostasis.
- The condition mainly affects older men, presenting with inflammation, neutrophilic dermatoses, chondritis, and myelodysplastic features.
- Diagnosis requires clinical signs and confirmation of UBA1 mutations.
- Prognosis is often poor, and treatment includes glucocorticoids, cytokine blockade, hypomethylating agents, and allogeneic stem cell transplantation as a potential cure.