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Article

Combined immune deficiency in a patient with a novel NFKB2 mutation.

Journal of clinical immunology - 1 Nov 2014

Lindsley Andrew W, Qian Yaping, Valencia C Alexander, Shah Kara, Zhang Kejian, Assa'ad Amal

Abstract excerpt

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...

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Source

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Identifiers

PMID: 25205549
DOI: 10.1007/s10875-014-0095-3
PMCID: PMC5705040

Genes

NFKB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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