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Dryad

Bone marrow aspirate smear of a VEXAS syndrome patient

Abstract

This dataset contains the digital slides of the bone marrow aspirate smears of a VEXAS syndrome patient from year 0, year 5, and year 7. 

VEXAS syndrome is an autoinflammatory syndrome caused by somatic mutations in UBA1, a gene coding for the ubiquitin-activating enzyme. The disease was first defined in 2020 by Beck et al[1]. The patients develop refractory systemic inflammation, which can manifest as relapsing polychondritis among others. They also develop haematological symptoms, most frequently macrocytic anaemia, and the presence of vacuoles in the affected cells in the bone marrow is a key feature. 

In the article[2] linked to this dataset, we provided the table (Supplementary Table S1) of the change in the numbers and the percentages of the vacuole-positive cells by maturation stage and by lineage in the bone marrow from three bone marrow aspirate examination over seven years. We scanned the smear slides to share with the scientific community. 

[1]Beck DB, Ferrada MA, Sikora KA, Ombrello JC, Pei W, Balanda N, et al. Somatic mutations in UBA1 and severe adult-onset auto-inflammatory disease. N Engl J Med 2020;383:2628-38.
[2]Sakuma M, Tanimura A, Yasui S, Ishiguro K, Kobayashi T, Miyazaki H, et al. Case of polychondritis-onset refractory organising pneumonia with cytopaenia diagnosed as VEXAS syndrome: the disease course of seven years. Rheumatology 2021. doi: 10.1093/rheumatology/keab349