Article
VEXAS anemia is a mosaic erythroblastopenia.
Blood - 12 Mar 2026
Rodrigues François, Hardouin Giulia, El Hoss Sara, Ghoul Aya, Gautier Emilie-Fleur, Dussiot Michaël, Lizarralde-Iragorri Maria A, Santini Annalisa, Peltier Sandy, Amireault Pascal, Soldan Vanessa, Miccio Annarita, Debili Mounia, Jachiet Vincent, Maciel Thiago Trovati, Rossignol Julien, Allemand Eric, Mekinian Arsène, Georgin-Lavialle Sophie, Salma Mohammad, Soler Eric, Gleizes Pierre-Emmanuel, O'Donohue Marie-Françoise, Kosmider Olivier, Rodriguez Manuel S, Hermine Olivier
Abstract excerpt
ABSTRACT: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently discovered autoinflammatory disorder linked to somatic mutations in the UBA1 gene, resulting in a profound cytoplasm-restricted defect in ubiquitylation. The disease is characterized by a macrocytic anemia that remains poorly understood. To investigate the erythroid lineage in VEXAS syndrome, we conducted a...
Read the complete abstract on PubMedTopics
- Humans
- Erythroblasts
- Ubiquitin-Activating Enzymes
- Ubiquitination