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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.
Alexander S Hines +2 more
exaly +3 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
Pulmonary manifestation of VEXAS syndrome
BMJ Case ReportsThis case report presents the diagnostic journey of a man in his mid-70s who experienced shortness of breath, cough, recurrent episodes of fever, weight loss, pruritic erythroderma, uveitis and macrocytic anaemia. The initial diagnosis of cryptogenic organising pneumonia was made based on antibiotic refractory infiltrates seen in the lung CT scan.
Knab, Thomas +5 more
openaire +3 more sources
Serious infections in patients with VEXAS syndrome: data from the French VEXAS registry
Annals of the Rheumatic DiseasesVacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an acquired autoinflammatory monogenic disease with a poor prognosis whose determinants are not well understood. We aimed to describe serious infectious complications and their potential risk factors.Retrospective multicentre study including patients with VEXAS syndrome from ...
de Valence, Benjamin +62 more
openaire +6 more sources