Sophie Georgin‐Lavialle

This study investigates VEXAS anemia, showing that UBA1 mutations affect erythroblast differentiation but not mature red cells, leading to a mosaic erythroblastopenia.

The paper investigates four CDC42 variants in autoinflammatory patients, showing that C-terminal variants cause actin defects and NF-kB hyperactivation, while the N-terminal variant does not.

This study functionally characterizes 34 NLRP3 variants associated with CAPS, identifying functional diversity and inhibitor sensitivity, with implications for diagnosis and drug development.