A Rare AIOLOS N160S Variant Causing IEI in Human
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s10875-024-01657-1.pdf
Reference7 articles.
1. Yamashita M, Kuehn HS, Okuyama K, Okada S, Inoue Y, Mitsuiki N, et al. A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS. Nat Immunol. 2021;22(7):893–903. https://doi.org/10.1038/s41590-021-00951-z.
2. Kuehn HS, Chang J, Yamashita M, Niemela JE, Zou C, Okuyama K, et al. T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients. J Exp Med. 2021;218(12): e20211118. https://doi.org/10.1084/jem.20211118.
3. Kuehn HS, Sakovich IS, Niemela JE, Silva AAG, Stoddard JL, Polyakova EA, et al. Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains. J Clin Invest. 2023;(in press).
4. Yamashita M, Morio T. AIOLOS variants causing immunodeficiency in human and mice. Front Immunol. 2022;13: 866582. https://doi.org/10.3389/fimmu.2022.866582.
5. Cai Y, Yin W. The multiple functions of B cells in chronic HBV infection. Front Immunol. 2020;11: 582292.
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1. AIOLOS-Associated Inborn Errors of Immunity;Journal of Clinical Immunology;2024-05-22
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