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Inborn errors of immunity caused by dominant negative interference by a BCL11B variant

Nature Immunology volume 25, pages 2184–2185 (2024)Cite this article

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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.

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Fig. 1: The BCL11B-N440K variant interferes with BCL11A function.

References

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This is a summary of: Okuyama, K. et al. A mutant BCL11B-N440K protein interferes with BCL11A function during T lymphocyte and neuronal development. Nat. Immunol. https://doi.org/10.1038/s41590-024-01997-5 (2024).

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Inborn errors of immunity caused by dominant negative interference by a BCL11B variant. Nat Immunol 25, 2184–2185 (2024). https://doi.org/10.1038/s41590-024-02003-8

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  • DOI: https://doi.org/10.1038/s41590-024-02003-8

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