ArticleAmerican journal of human genetics2015
Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency.
Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 137 papers, 2 of them syntheses that pooled it.
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Who cites it
137 citing papers in PubMed, 2 syntheses or guidelines pooled it, 240 citations in OpenAlex.
- Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.Journal of clinical immunology · 2024Pooled it
- Clinical, Immunological, and Genetic Features in Patients with NFKB1 and NFKB2 Mutations: a Systematic Review.Journal of clinical immunology · 2024Pooled it
- Common variable immunodeficiency-associated endotoxemia promotes early commitment to the T follicular lineage.The Journal of allergy and clinical immunology · 2019Trial
- Does CVID exist in children? A genetic architecture and manifestation map derived from 7,525 patients.Journal of human immunity · 2026Article
- A Detrimental NFKB2 Missense Variant is Associated with Hypogammaglobulinemia.Journal of clinical immunology · 2026Article
- Heterozygous NFKB1 variant causes inflammatory dysregulation shaped by broader genetic context in common variable immunodeficiency.JCI insight · 2026Article
- Clinical and immunological characterization ofFrontiers in immunology · 2026Article
- Common Variable Immunodeficiency Disorders: A perspective from New Zealand.Clinical reviews in allergy & immunology · 2025Review
- Hodgkin Lymphoma Associated with Common Variable Immunodeficiency: The Role of Early Diagnosis and Multidisciplinary Management.Hematology reports · 2025Article
- Single-Cell Multi-Modal Differential Analysis of the Human Neo-Cortex in HIV Infection Reveals Similarities with Hallmarks of Alzheimer's Disease.Research square · 2025Article
- Malignancy and Autoimmune Susceptibility in Adult Patients with Human Inborn Errors of Immunity.Journal of clinical immunology · 2025Article
- The Presentation, Diagnosis, and Management of Autosomal Dominant Common Variable Immunodeficiency Type XII with NFKB1 Mutation and Autoimmune Neutropenia Treated with Allogenic Stem Cell Transplantation.Hematology reports · 2025Article
- Inborn errors of immunity: Manifestation, treatment, and outcome-an ESID registry 1994-2024 report on 30,628 patients.Journal of human immunity · 2025Article
- γδ T Cells and Inborn Errors of Immunity.European journal of immunology · 2025Review
- Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency.Human mutation · 2025Review
- Analysis of the Relationship BetweenInternational journal of medical sciences · 2025Article
- Case report and literature review: clinical manifestations and treatment of human RelA deficiency.Frontiers in immunology · 2025Review
- Article
- Cytomegalovirus drives Vδ1Nature communications · 2024Article
- Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis.Cell reports. Medicine · 2024Article
77 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
22 authors at 10 institutions in 7 countries.
Funding
Abstract
Common variable immunodeficiency (CVID), characterized by recurrent infections, is the most prevalent symptomatic antibody deficiency. In ∼90% of CVID-affected individuals, no genetic cause of the disease has been identified. In a Dutch-Australian CVID-affected family, we identified a NFKB1 heterozygous splice-donor-site mutation (c.730+4A>G), causing in-frame skipping of exon 8. NFKB1 encodes the transcription-factor precursor p105, which is processed to p50 (canonical NF-κB pathway). The altered protein bearing an internal deletion (p.Asp191_Lys244delinsGlu; p105ΔEx8) is degraded, but is not processed to p50ΔEx8. Altered NF-κB1 proteins were also undetectable in a German CVID-affected family with a heterozygous in-frame exon 9 skipping mutation (c.835+2T>G) and in a CVID-affected family from New Zealand with a heterozygous frameshift mutation (c.465dupA) in exon 7. Given that residual p105 and p50—translated from the non-mutated alleles—were normal, and altered p50 proteins were absent, we conclude that the CVID phenotype in these families is caused by NF-κB1 p50 haploinsufficiency.
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Registered trials
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