1 Ocak 2023 Dergi makalesi Açık Erişim

Erdem, Serife; Haskologlu, Sule; Haliloglu, Yesim; Celikzencir, Huriye; Arik, Elif; Keskin, Ozlem; Eltan, Sevgi Bilgic; Yucel, Esra; Canatan, Halit; Avcilar, Huseyin; Yilmaz, Ebru; Ozcan, Alper; Unal, Ekrem; Karakukcu, Musa; Celiksoy, Mehmet Halil; Kilic, Sara Sebnem; Demir, Ayca; Genel, Ferah; Gulez, Nesrin; Koker, Mustafa Yavuz

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    <subfield code="a">&lt;p&gt;In 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.&lt;/p&gt;</subfield>
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