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          NIAMS Scientific Advances
          Inflammatory Pathways Are Activated in VEXAS Hematopoietic Stem Cells








NIAMS Advances


Inflammatory Pathways Are Activated in VEXAS Hematopoietic Stem Cells August 15, 2023
                                CLINICAL
        Peter Grayson, M.D., M.Sc.
                                          |
              Vasculitis Translational Research Program
                                          |
              NIAMS IRP
        DescriptionVEXAS (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.Grant supportAR041204
        Research Areas:
            Autoimmunity
      Clinical Research
      Computational Biology
      Epidemiology
      Genetics and Genomics
      Immunology
                                        Reference:
            Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS.

    Wu Z, Gao S, Gao Q, Patel BA, Groarke EM, Feng X, Manley AL, Li H, Ospina Cardona D, Kajigaya S, Alemu L, Quinones Raffo D, Ombrello AK, Ferrada MA, Grayson PC, Calvo KR, Kastner DL, Beck DB, Young NS
        

                    Cell Rep Med.
        
                    2023 Aug 15;
        
                    4(8).
        
                    doi: 10.1016/j.xcrm.2023.101160
                            PMID: 37586319
        Research reported in this publication was supported by the Intramural Research Program of the NIHʼs National Institute of Arthritis and Musculoskeletal and Skin Diseases.
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