We generated a mouse model to investigate the mechanistic basis of inborn errors of immunity caused by heterozygous BCL11B mutation. The BCL11B mutant protein interfered with BCL11A function, impairing T cell and neuronal development. Mutant BCL11B also failed to antagonize TCF1 function, leading to aberrant natural killer cell differentiation in the thymus.

中文翻译：

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由 BCL11B 变体的显性负干扰引起的先天性免疫缺陷


我们生成了一个小鼠模型来研究杂合 BCL11B 突变引起的先天性免疫缺陷的机制基础。BCL11B 突变蛋白干扰 BCL11A 功能，损害 T 细胞和神经元发育。突变型 BCL11B 也未能拮抗 TCF1 功能，导致胸腺自然杀伤细胞分化异常。