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- W3207922248 abstract "Dear Editor, VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic) syndrome is a recently described X-linked autoinflammatory disease caused by somatic mutations of the UBA1 gene in haematopoietic stem cells, which encodes for a ubiquitin-activating (E1) enzyme described by Beck et al. [1]. Almost all patients carry somatic missense mutations affecting methionine at amino acid position 41 in the UBA1 gene (Met41Val, Met41Thr and Met41Leu); however, other somatic mutations in UBA1 have recently been identified [2]. Although most of the patients meet diagnostic criteria for relapsing polychondritis, patients with VEXAS syndrome can also meet current diagnostic criteria or classifications for other conditions [3]. In 2017, a 76-year-old man developed macrocytic anaemia, leucopoenia with a normal neutrophil count and high ferritin levels (979 ng/ml). Laboratory results showed normal vitamin B12 and folate, no circulating immune complexes, normal serum protein electrophoresis and a negative genetic test for hereditary haemochromatosis. Bone marrow aspiration showed a normal karyotype and a low-grade myelodysplastic syndrome with single-lineage dysplasia." @default.
- W3207922248 created "2021-10-25" @default.
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- W3207922248 date "2021-10-20" @default.
- W3207922248 modified "2023-10-09" @default.
- W3207922248 title "VEXAS syndrome: relapsing polychondritis and myelodysplastic syndrome with associated immunoglobulin A vasculitis" @default.
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- W3207922248 doi "https://doi.org/10.1093/rheumatology/keab782" @default.
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