• Internal medicine journal · Apr 2022

    VEXAS syndrome: lessons learnt from an early Australian case series.

    • Sadia Islam, Taylor Cullen, Daniel Sumpton, Arvin Damodaran, David Heath, Annmarie Bosco, Nicole W Doo, Giselle Kidson-Gerber, Anthony Cheong, Ron Lawford, Rebecca Walsh, and Anthony Sammel.
    • Rheumatology Department, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.
    • Intern Med J. 2022 Apr 1; 52 (4): 658-662.

    AbstractVEXAS 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.© 2022 Royal Australasian College of Physicians.

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