Ontology highlight
ABSTRACT:
SUBMITTER: Huang H
PROVIDER: S-EPMC7976711 | biostudies-literature | 2021 Mar
REPOSITORIES: biostudies-literature
Experimental hematology & oncology 20210319 1
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly-described adult-onset inflammatory syndrome characterized by vacuoles in myeloid and erythroid precursor cells and somatic mutations affecting methionine-41 (p.Met41) in UBA1. The VEXAS syndrome often overlaps with myelodysplastic syndromes (MDS) with autoimmune disorders (AD). By screening the UBA1 gene sequences derived from MDS patients with AD from our center, we identified one patient with a p.Met41Leu miss ...[more]