TY - JOUR T1 - Somatic Mutation in <em>UBA1</em> and ANCA-associated Vasculitis JF - The Journal of Rheumatology JO - J Rheumatol SP - 1626 LP - 1627 DO - 10.3899/jrheum.210149 VL - 48 IS - 10 AU - Carolyn Ross AU - Hannah Laure Elfassy AU - Jean-Paul Makhzoum Y1 - 2021/10/01 UR - http://www.jrheum.org/content/48/10/1626.abstract N2 - VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome was recently discovered in 25 men with late-onset severe and refractory inflammatory syndromes and associated hematologic abnormalities. Various diseases have been described, such as relapsing polychondritis, myelodysplastic syndrome, polyarteritis nodosa, and giant cell arteritis. The disorder originates from a somatic mutation in UBA1, an X-chromosome gene encoding the ubiquitin-activating enzyme 1.1 Myelodysplastic syndrome has been previously reported concomitantly with systemic vasculitides,2 but only a few cases have been described with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitides (AAV).3,4 A shared genetic contribution was thus far unknown. Here, we report the first case, to our knowledge, of refractory granulomatosis with polyangiitis (GPA) with overlapping myelodysplasia and a mosaic mutation in UBA1. Ethics approval for this case report was waived by our institution’s ethics committee. The patient’s written informed consent was obtained.In April 2019, a … ER -