Ontology highlight
ABSTRACT:
SUBMITTER: Diarra A
PROVIDER: S-EPMC8945317 | biostudies-literature | 2022 Feb
REPOSITORIES: biostudies-literature
Diarra Ava A Duployez Nicolas N Fournier Elise E Preudhomme Claude C Coiteux Valérie V Magro Leonardo L Quesnel Bruno B Heiblig Maël M Sujobert Pierre P Barraco Fiorenza F Balsat Marie M Scanvion Quentin Q Hachulla Eric E Launay David D Yakoub-Agha Ibrahim I Terriou Louis L
Blood advances 20220201 3
The recently described vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is caused by somatic mutations in UBA1. Patients with VEXAS syndrome display late-onset autoinflammatory symptoms, usually refractory to treatment, and hematologic abnormalities. The identification of an easily-accessible specific marker (UBA1 mutations) is of particular interest as it allows the convergence of various inflammatory and hematological symptoms in a unique clinico-biological entity and ...[more]