Mutant UBA1 and Severe Adult-Onset Autoinflammatory Disease

To the Editor: Beck and colleagues (Dec. 31 issue)(1) describe a new autoinflammatory disorder named the VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome exclusively in male patients showing somatic mutations in UBA1. We report here the occurrence of the VEXAS syndrome in two female patients. An 87-year-old woman was referred for relapsing polychondritis, prolonged fever, and an inflammatory syndrome lasting for 2 months. Unclassified myelodysplastic syndrome was diagnosed: she presented with macrocytic anemia, thrombocytopenia, and myeloid dyspoiesis with vacuoles in myeloid precursors (Fig. S1A in the Supplementary Appendix, available with the full text of this letter at NEJM.org) and . . .

Automated summary

The authors report the occurrence of the VEXAS syndrome in two female patients, which was previously described exclusively in male patients. An 87-year-old woman presented with relapsing polychondritis, prolonged fever, and myelodysplastic syndrome.