title: 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.
authors.affiliation: Division of Allergy & Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA, andrew.lindsley@cchmc.org.
authors.forename: Andrew W
authors.initials: AW
authors.lastname: Lindsley
authors.forename: Yaping
authors.initials: Y
authors.lastname: Qian
authors.forename: C Alexander
authors.initials: CA
authors.lastname: Valencia
authors.forename: Kara
authors.initials: K
authors.lastname: Shah
authors.forename: Kejian
authors.initials: K
authors.lastname: Zhang
authors.forename: Amal
authors.initials: A
authors.lastname: Assa'ad
mesh_terms: D002675:Child, Preschool; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008297:Male; D009154:Mutation; D052003:NF-kappa B p52 Subunit / Q000235:genetics*; D015398:Signal Transduction / Q000235:genetics
chemical_list: D052003:NF-kappa B p52 Subunit; C498206:NFKB2 protein, human