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Thrombotic manifestations of VEXAS syndrome
Seminars in Hematology, 2021VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described autoinflammatory syndrome characterized by diffuse inflammatory manifestations, predisposition to hematological malignancy, and an association with a high rate of thrombosis.
Emma Groarke, Yogendra Kanthi
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Archives of Dermatological Research, 2022
Vacuoles, E1 enzyme, x-linked, autoinflammatory, and somatic mutation (VEXAS) syndrome is a recently described disease associated with high morbidity and mortality. VEXAS syndrome results from a somatic mutation affecting UBA1, a gene that codes for the E1 ubiquitin activating protein.
Vince Afsahi +2 more
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Vacuoles, E1 enzyme, x-linked, autoinflammatory, and somatic mutation (VEXAS) syndrome is a recently described disease associated with high morbidity and mortality. VEXAS syndrome results from a somatic mutation affecting UBA1, a gene that codes for the E1 ubiquitin activating protein.
Vince Afsahi +2 more
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Pulmonary manifestations in VEXAS syndrome
Respiratory Medicine, 2023Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently recognized multisystem disorder caused by somatic mutations in the UBA1 gene.A retrospective cohort study was conducted on all patients with VEXAS syndrome evaluated at our institution from June 2020 through May 2022.
Marta Casal Moura +11 more
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2023
variants in UBA1gene result in the production of enzyme ubiquitin activating enzyme D1 with reduced functions as a result damage protein build up inside the cells and this causes activation of immune cells or cells damage and death this leads to abnormal inflammation impaired blood cells development and other features of vexas ...
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variants in UBA1gene result in the production of enzyme ubiquitin activating enzyme D1 with reduced functions as a result damage protein build up inside the cells and this causes activation of immune cells or cells damage and death this leads to abnormal inflammation impaired blood cells development and other features of vexas ...
openaire +1 more source
An Orbital Manifestation of VEXAS Syndrome
Ophthalmic Plastic & Reconstructive Surgery, 2023VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an adult-onset autoinflammatory disorder characterized by systemic inflammation (vasculitis, arthritis, chondritis, dermatosis) and hematologic abnormalities (thrombosis, cytopenia, vacuolization of marrow precursors).
Anagha, Lokhande +3 more
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Joint Bone Spine
VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently described autoinflammatory syndrome, mostly affecting men older than 50 years, caused by somatic mutation in the UBA1 gene, a X-linked gene involved in the activation of ubiquitin system.
Mohamed-Yacine, Khitri +3 more
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VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently described autoinflammatory syndrome, mostly affecting men older than 50 years, caused by somatic mutation in the UBA1 gene, a X-linked gene involved in the activation of ubiquitin system.
Mohamed-Yacine, Khitri +3 more
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VEXAS syndrome with cochleovestibular involvement
Auris Nasus LarynxWe report a case of VEXAS syndrome in a 71-year-old man presenting with auricular chondritis, scleritis, hearing loss, and vestibular dysfunction. Although the clinical picture initially suggested relapsing polychondritis, hematologic findings and UBA1 variant confirmed VEXAS syndrome.
Keishi Fujiwara +7 more
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