Somatic Mutation in UBA1 and ANCA-associated Vasculitis.

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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.


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Authors: Carolyn Ross, Hannah Laure Elfassy, Jean-Paul Makhzoum

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