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Combined Immune Deficiency in a Patient with a Novel NFKB2 Mutation |
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| Authors: | Andrew W. Lindsley Yaping Qian C. Alexander Valencia Kara Shah Kejian Zhang Amal Assa’ad |
| Affiliation: | 1. Division of Allergy & Immunology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, 45229, USA 2. Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, 45229, USA 3. Division of Dermatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, 45229, USA |
| 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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