T and NK cell functionality in a patient harboring heterozygous novel BCL11B p.Asp632fsAla∗91 and STX11 p.R129P mutations.

• Tác giả: María Belén Almejun, Mercedes Borge, Franco Gino Brunello, Ana Colado, Lorenzo Erra, Verónica Goris, Marcelo Martí, Matías Oleastro, Roberto Gabriel Pozner, Emma Prieto, Mariana Villa
• Ngôn ngữ: eng
• Thông tin xuất bản: England : Heliyon , 2025
• Bộ sưu tập: NCBI
• ID: 687226

Tóm tắt

BCL11B is a transcription factor essential for central nervous system development and T-cell differentiation that regulates numerous genes across various pathways. Heterozygous BCL11B defects can lead to a broad spectrum of phenotypes, including neurological disorders with or without immunological features. STX11 encodes a t-SNARE protein crucial for the final fusion of lytic granules with the plasma membrane of NK-cells and CD8