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
A Man with a Recurrent Left Pleural Effusion In late 2020, a new disease entity that was referred to as VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome was reported. Q: What is the cause of VEXAS syndrome?A: VEXAS syndrome is caused by somatic mutations in UBA1 (the gene that encodes ubiquitin-like modifier activating enzyme 1),
IRVINE, California, March 2, 2022, Genomic Testing Cooperative, LCA (GTC) announced today that their hematology molecular profiling is expanded to cover analysis of the UBA1 and NFE2 genes. Both genes were recently reported to be clinically important for the diagnosis and treatment of patients with hematologic neoplasms. Recently described VEXAS (vacuoles, E1
