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

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.

SUBMITTER: Lindsley AW 

PROVIDER: S-EPMC5705040 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature