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- W4385880710 abstract "VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly described autoinflammatory entity caused by a UBA-1 gene mutation. Among the most frequent symptoms it produces fever, cytopenias, polychondritis, pulmonary infiltrates and up to 40% ocular involvement such as periorbital edema, uveitis, episcleritis, scleritis and retinal vasculitis. Patients respond to high doses of corticosteroids, however, many end up being refractory to them and to the classic immunosuppressants. We described the case of a 77-year-old male patient with ocular involvement in the form of episcleritis and periorbital edema who was later diagnosed with VEXAS Syndrome. The patient, after failing treatment with immunosuppressants, is currently receiving treatment with oral steroids and tocilizumab. Ophthalmologist must be aware of the ophthalmological affectation of autoinflammatory diseases and especially of this new entity described as the VEXAS Syndrome." @default.
- W4385880710 created "2023-08-17" @default.
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- W4385880710 date "2023-10-01" @default.
- W4385880710 modified "2023-10-04" @default.
- W4385880710 title "Episcleritis and periorbital edema secondary to VEXAS syndrome" @default.
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- W4385880710 doi "https://doi.org/10.1016/j.oftale.2023.07.004" @default.
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