Author
Universitair Ziekenhuis LeuvenORCID 0000-0002-8985-8155Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Alberto Iannuzzo, Selket Delafontaine, Rana El Masri…·Jérôme Delon
This study identifies Golgi-trapped CDC42 variants causing STING hyperactivation and IFN elevation in autoinflammatory patients.
Alberto Iannuzzo, Philippe Mertz, Selket Delafontaine…·Jérôme Delon
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.
Mehul Sharma, Daniel Leung, Mana Momenilandi…·Stuart E. Turvey
This study identifies heterozygous gain-of-function STAT6 variants in two patients with severe allergic disease and shows JAK inhibitors reduce the enhanced STAT6 responses.