Erdem, SerifeHaskologlu, SuleHaliloglu, YesimCelikzencir, HuriyeArik, ElifKeskin, OzlemEltan, Sevgi Bilgic2024-02-232024-02-2320231521-66161521-7035https://doi.org/10.1016/j.clim.2023.109691https://hdl.handle.net/20.500.12452/11726In 15 Turkish LAD-1 patients and controls, we assessed the impact of pathogenic ITGB2 mutations on Th17/Treg differentiation and functions, and innate lymphoid cell (ILC) subsets. The percentage of peripheral blood Treg cells, in vitro-generated induced Tregs differentiated from naive CD4+ T cells were decreased despite the elevated absolute counts of CD4+ cells in LAD-1 patients. Serum IL-23 levels were elevated in LAD-1 patients. Post-curdlan stimulation, LAD-1 patient-derived PBMCs produced more IL-17A. Additionally, the percentages of CD18-deficient Th17 cells expanded from total or naive CD4+ T cells were higher. The blood ILC3 subset was significantly elevated in LAD-1. Finally, LAD-1 PBMCs showed defects in trans-well migration and proliferation and were more resistant to apoptosis. Defects in de novo generation of Tregs from CD18-deficient naive T cells and elevated Th17s, and ILC3s in LAD1 patients' peripheral blood suggest a type 3-skewed immunity and may contribute to LAD-1-associated autoimmune symptoms.eninfo:eu-repo/semantics/closedAccessLeukocyte Adhesion DeficiencyLad-1Th17IlcTregArticle253374334232-s2.0-85165054835Q1WOS:00104445530000110.1016/j.clim.2023.109691