1. Three UBA1 clones for a unique VEXAS syndrome.
- Author
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Podvin, Benjamin, Cleenewerck, Nathalie, Nibourel, Olivier, Marceau-Renaut, Alice, Roynard, Pauline, Preudhomme, Claude, Duployez, Nicolas, and Terriou, Louis
- Subjects
GENETIC mutation ,MACROCYTIC anemia ,TOCILIZUMAB ,CARTILAGE diseases ,BLOOD cells ,METHOTREXATE ,JANUS kinases ,BLOOD diseases ,GENES ,PREDNISONE ,BONE marrow ,HEMATOPOIETIC stem cells ,AUTOINFLAMMATORY diseases - Abstract
The article describes a rare case of VEXAS syndrome in a 67-year-old man with polychondritis with independent occurrences of UBA1 mutations in at least three distinct clones, highlighting that the modular pathophysiology of the disease may be more complex than expected. Topics include medical laboratory findings, treatment given to the patient, and the possibility of underlying process impacting the selection of UBA1-mutated clones.
- Published
- 2024
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