VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe autoinflammatory disease found in men and caused by mutations in the UBA1 gene, leading to severe inflammation affecting multiple organs. The pathophysiology of VEXAS is still not fully understood, but defective proliferation and differentiation of myeloid progenitors and hematopoietic stem and progenitor cells characterize the disease. In this study, the authors reported early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS.
What is exciting about this article?
The researchers used single-cell transcriptomic analysis to study bone marrow from men with VEXAS syndrome and found both hyperinflammation and dominance of myeloid populations among the hematopoietic stem cells with UBA1 mutations.
Research reported in this publication was supported by the Intramural Research Program of the NIHʼs National Institute of Arthritis and Musculoskeletal and Skin Diseases.