Published January 1, 2023 | Version v1
Journal article Open

Defective Treg generation and increased type 3 immune response in leukocyte adhesion deficiency 1

  • 1. Ankara Univ, Dept Pediat Allergy & Immunol, Sch Med, Ankara, Turkiye
  • 2. Erciyes Univ, Dept Immunol, Sch Med, Kayseri, Turkiye
  • 3. Gaziantep Univ, Dept Pediat Allergy & Immunol, Sch Med, Gaziantep, Turkiye
  • 4. Marmara Univ, Dept Pediat Allergy & Immunol, Sch Med, Istanbul, Turkiye
  • 5. Istanbul Univ, Dept Pediat Allergy & Immunol, Sch Med, Istanbul, Turkiye
  • 6. Erciyes Univ, Betul Ziya Eren Genome & Stem Cell Ctr, Kayseri, Turkiye
  • 7. Erciyes Univ, Dept Pediat Hematol & Oncol, Sch Med, Kayseri, Turkiye
  • 8. Univ Hlth Sci, Istanbul Basaksehir Cam & Sakura City Hosp, Pediat Allergy & Immunol Clin, Istanbul, Turkiye
  • 9. Bursa Uludag Univ, Sch Med, Dept Pediat Immunol & Rheumatol, Bursa, Turkiye
  • 10. Univ Hlth Sci, Dr Behcet Uz Childrens Educ & Res Hosp, Dept Pediat Allergy & Immunol, Izmir, Turkiye

Description

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.

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