New England Journal of Medicine· 2020Q1

Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease

David B. Beck, Marcela A. Ferrada, Keith A. Sikora, Amanda K. Ombrello et al.

1,168citations
Q1SCImago
2020year

Short summary

Somatic mutations in the X-linked gene UBA1 cause VEXAS syndrome, a severe adult-onset autoinflammatory disease characterized by vacuoles, cytopenias, and inflammation in myeloid cells.

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Field: Rheumatology

RheumatologyMedicine