Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations.

doi:10.3389/fimmu.2022.973543

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Article

Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations.

Frontiers in immunology - 1 Jan 2022

Staels Frederik, De Keukeleere Kerstin, Kinnunen Matias, Keskitalo Salla, Lorenzetti Flaminia, Vanmeert Michiel, Prezzemolo Teresa, Pasciuto Emanuela, Lescrinier Eveline, Bossuyt Xavier, Gerbaux Margaux, Willemsen Mathijs, Neumann Julika, Van Loo Sien, Corveleyn Anniek, Willekens Karen, Stalmans Ingeborg, Meyts Isabelle, Liston Adrian, Humblet-Baron Stephanie, Seppänen Mikko, Varjosalo Markku, Schrijvers Rik

Abstract excerpt

NFKB1 haploinsufficiengcy was first described in 2015 in three families with common variable immunodeficiency (CVID), presenting heterogeneously with symptoms of increased infectious susceptibility, skin lesions, malignant lymphoproliferation and autoimmunity. The described mutations all led to a rapid degradation of the mutant protein, resulting in a p50 haploinsufficient state. Since then, more than 50 other...

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Identifiers

PMID: 36203612
DOI: 10.3389/fimmu.2022.973543
PMCID: PMC9530060

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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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