Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency.
Nakatani N et al.
Human Genome Variation, 2024
Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50.
Fliegauf M et al.
Frontiers in Immunology, 2022
36105815 (PubMed )
Supplement: DataSheet_1.pdf
Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.
Li J et al.
The Journal of Experimental Medicine, 2021
34473196 (PubMed )
Supplement: JEM_20210566_TableS1.xlsx › Table_S1
A Pathogenic Missense Variant in NFKB1 Causes Common Variable Immunodeficiency Due to Detrimental Protein Damage.
Fliegauf M et al.
Frontiers in Immunology, 2021
Vulnerability to Meningococcal Disease in Immunodeficiency Due to a Novel Pathogenic Missense Variant in NFKB1.
Anim M et al.
Frontiers in Immunology, 2021
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T et al.
The Journal of Allergy and Clinical Immunology, 2020
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.
Tuijnenburg P et al.
The Journal of Allergy and Clinical Immunology, 2018
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