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Article

Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.

Blood - 28 Sept 2017

Kuehn Hye Sun, Niemela Julie E, Sreedhara Karthik, Stoddard Jennifer L, Grossman Jennifer, Wysocki Christian A, de la Morena M Teresa, Garofalo Mary, Inlora Jingga, Snyder Michael P, Lewis David B, Stratakis Constantine A, Fleisher Thomas A, Rosenzweig Sergio D

Abstract excerpt

NF-κB signaling through its NFKB1-dependent canonical and NFKB2-dependent noncanonical pathways plays distinctive roles in a diverse range of immune processes. Recently, mutations in these 2 genes have been associated with common variable immunodeficiency (CVID). While studying patients with genetically uncharacterized primary immunodeficiencies, we detected 2 novel nonsense gain-of-function (GOF) NFKB2 mutations...

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Source

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Identifiers

PMID: 28778864
DOI: 10.1182/blood-2017-05-782177
PMCID: PMC5620416

Genes

NFKB2
NFKB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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