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• W3137993872 abstract "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 missense mutation in UBA1, who should have been diagnosed as MDS comorbid with VEXAS syndrome. This patient respond poorly to immune suppressive drugs. Patients with MDS and AD who have characteristic vacuoles in myeloid and erythroid precursor cells should be screened for UBA1 mutation, these patients are likely to have VEXAS syndrome and unlikely to improve with immunosuppressive drugs and should be considered for other alternative therapies." @default.
• W3137993872 created "2021-03-29" @default.
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• W3137993872 date "2021-03-19" @default.
• W3137993872 modified "2023-10-14" @default.
• W3137993872 title "VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder" @default.
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• W3137993872 doi "https://doi.org/10.1186/s40164-021-00217-2" @default.
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