A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.

doi:10.1007/s10875-020-00842-2

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Article

A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.

Journal of clinical immunology - 1 Nov 2020

Kuehn Hye Sun, Bernasconi Andrea, Niemela Julie E, Almejun Maria Belen, Gallego William Alexander Franco, Goel Shubham, Stoddard Jennifer L, Sánchez Ronald Guillermo Peláez, Franco Carlos Andrés Arango, Oleastro Matías, Grunebaum Eyal, Ballas Zuhair, Cunningham-Rundles Charlotte, Fleisher Thomas A, Franco José Luis, Danielian Silvia, Rosenzweig Sergio D

Abstract excerpt

The noncanonical NF-κB pathway is implicated in diverse biological and immunological processes. Monoallelic C-terminus loss-of-function and gain-of-function mutations of NFKB2 have been recently identified as a cause of immunodeficiency manifesting with common variable immunodeficiency (CVID) or combined immunodeficiency (CID) phenotypes. Herein we report a family carrying a heterozygous nonsense mutation in...

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PMID: 32813180
DOI: 10.1007/s10875-020-00842-2
PMCID: PMC7567683

Genes

NFKB2

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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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