2025/02/01 by Lorenzo Erra, Ana Colado, F. Brunello +8 · 1 voice
Immunology and Microbiology · #Immune Cell Function and Interaction #Immunodeficiency and Autoimmune Disorders #T-cell and B-cell Immunology
paper · doi:10.1016/j.heliyon.2025.e42636
openalex publication_date 2025/02/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/23
IL-2 treatment restored these functions to healthy donor levels. We also observed a reduced STX11 protein expression in patient PBMCs. We hypothesize that impaired IL-2 secretion caused by the BCL11B mutation may reduce the patient's ability to compensate for STX11 dysfunction, suggesting that the combined effect of BCL11B and STX11 mutations contributes to the observed immune dysfunction and the patient's complex phenotype. Additionally, our findings suggest that abnormal NK- and T-cells function could play a role in the onset of autoimmune disorders.