Case Study: VEXAS Syndrome
June 8, 2022
Background VEXAS syndrome is a disease with inflammatory and hematologic (blood) manifestations. The syndrome is caused by mutations in the UBA1 gene affecting the Met41 residue of the protein and resulting in decreased cellular ubiquitylation activity and hyperinflammation. This is an adults-onset fatal disease that may present as myelodysplastic syndrome, aplastic anemia
