Article
Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome.
Rheumatology (Oxford, England) - 1 Oct 2024
Ospina Cardona Daniela, Rodriguez-Pinto Ignasi, Iosim Sonia, Bonet Nuria, Mensa-Vilaro Anna, Wong Mei-Kay, Ho Gary, Tormo Marc, Yagüe Jordi, Shon Wonwoo, Wallace Daniel J, Casals Ferran, Beck David B, Abuav Rachel, Arostegui Juan I
Abstract excerpt
OBJECTIVE: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a complex immune disorder consequence of somatic UBA1 variants. Most reported pathogenic UBA1 variants are missense or splice site mutations directly impairing the translational start site at p.Met41, with recent studies showing that these variants are frequent causes of recurrent inflammation in older individuals. Here we...
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