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Article

A Pathogenic Missense Variant in NFKB1 Causes Common Variable Immunodeficiency Due to Detrimental Protein Damage.

Frontiers in immunology - 1 Jan 2021

Fliegauf Manfred, Krüger Renate, Steiner Sophie, Hanitsch Leif Gunnar, Büchel Sarah, Wahn Volker, von Bernuth Horst, Grimbacher Bodo

Abstract excerpt

In common variable immunodeficiency (CVID), heterozygous damaging NFKB1 variants represent the most frequent monogenic cause. NFKB1 encodes the precursor p105, which undergoes proteasomal processing to generate the mature NF-κB transcription factor subunit p50. The majority of NFKB1 sequence changes comprises missense variants of uncertain significance (VUS), each requiring functional evaluation to assess...

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Common Variable Immunodeficiency
Germany
Haploinsufficiency
HEK293 Cells
Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

NF-kappa B p50 Subunit

Protein Transport

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Identifiers

PMID: 33995346
DOI: 10.3389/fimmu.2021.621503
PMCID: PMC8115018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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