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Combined Immune Deficiency in a Patient with a Novel NFKB2 Mutation

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Abstract

NFKB2 encodes the p100/p52 protein, a critical mediator of the canonical and noncanonical NFkB signaling pathways. Here we report the comprehensive immune evaluation of a child with a novel NFKB2 mutation and provide evidence that aberrant NFKB2 signaling not only causes humoral immune deficiency, but also interferes with the TCR-mediated proliferation of T cells. These observations expand the known phenotype associated with NFKB2 mutations.

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Acknowledgments

Special thanks to Joyce Collett, Rebecca Marsh, Jack Bleesing, and Lisa Filipovich of the Cincinnati Children’s Hospital Medical Center Diagnostic Immunology Laboratory for their technical support. The authors also thank Kimberly Risma, David Hildeman and Joseph Sherrill for their thoughtful scientific advice and Shawna Hottinger for her editorial assistance. This research was funded in part by the Cincinnati Children’s Hospital Research Foundation (Procter Scholarship awarded to AWL) and an NIH K12 (HD028827) Child Health Research Career Development Award (AWL).

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Correspondence to Andrew W. Lindsley.

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Lindsley, A.W., Qian, Y., Valencia, C.A. et al. Combined Immune Deficiency in a Patient with a Novel NFKB2 Mutation. J Clin Immunol 34, 910–915 (2014). https://doi.org/10.1007/s10875-014-0095-3

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  • DOI: https://doi.org/10.1007/s10875-014-0095-3

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