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Updated: Apr 24, 2026

A Chromatin Immunoprecipitation Assay to Identify Novel NFAT2 Target Genes in Chronic Lymphocytic Leukemia
Published on: December 4, 2018
Combined immune deficiency in a patient with a novel NFKB2 mutation
Andrew W Lindsley1, Yaping Qian, C Alexander Valencia
1Division of Allergy & Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA, andrew.lindsley@cchmc.org.
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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