Publication | Closed Access
VEXAS syndrome: lessons learnt from an early Australian case series
42
Citations
7
References
2022
Year
Somatic MutationMendelian DisorderAutoimmune DiseaseClinical Case ReportGenetic DisorderVexas SyndromeAutoinflammatory DisordersImmunologyPediatricsPathologyGenetic EpidemiologyRefractory NatureSclerodermaMedicine
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.
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