ArticleHuman genome variation2024
A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency.
Article in Human genome variation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Genotype-phenotype analysis in 333 individuals with heterozygous variants in NFKB1.Journal of human immunity · 2027Article
- Rare variants in genes related to inborn errors of immunity in patients with rheumatoid arthritis and secondary immunodeficiency.RMD open · 2026Article
- Clinical and immunological characterization ofFrontiers in immunology · 2026Article
- Defective Function of Inhibitor of κB Kinase Subunit Beta Associated With Multiple Immune-Mediated Disorders.Experimental dermatology · 2026Article
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recently, heterozygous loss-of-function NFKB1 variants were identified as the primary cause of common variable immunodeficiency (CVID) in the European population. However, pathogenic NFKB1 variants have never been reported in the Japanese population. We present a 29-year-old Japanese woman with CVID. A novel variant, c.136 C > T, p.(Gln46*), was identified in NFKB1. Her mother and daughter carried the same variant, demonstrating the first Japanese pedigree with an NFKB1 pathogenic variant.
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Registered trials
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