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Intern Med J ; 52(4): 658-662, 2022 04.
Article in English | MEDLINE | ID: mdl-35419965

ABSTRACT

VEXAS is a newly recognised adult-onset autoinflammatory syndrome resulting from a somatic mutation in the UBA1 gene. Herein, we present three cases of VEXAS syndrome in Sydney, Australia, that capture key clinical features and the refractory nature of the condition. They highlight the importance of multidisciplinary collaboration for early diagnosis and the need for new therapeutic options.


Subject(s)
Research , Ubiquitin-Activating Enzymes , Adult , Australia , Humans , Mutation , Syndrome , Ubiquitin-Activating Enzymes/genetics
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