Daniela Ospina Cardona, Ignasi Rodriguez-Pinto, Sonia Iosim, Nuria Bonet, Anna Mensa-Vilaro, Mei-Kay Wong, Gary Ho, Marc Tormo, Jordi Yagüe, Wonwoo Shon, Daniel Wallace, Ferran Casals, David B Beck, Rachel Abuav, Juan I Arostegui
OBJECTIVE: The 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 aimed to characterize a novel UBA1 variant found in two patients clinically presenting with VEXAS syndrome...
March 29, 2024: Rheumatology