ArticleBlood2008
A novel polymorphism of the human CD40 receptor with enhanced function.
Article in Blood, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed, 24 citations in OpenAlex.
- Clinical applications and challenges of CD40/CD40L signaling regulation in autoimmune diseases.Frontiers in immunology · 2026Review
- Epstein-Barr Functional Mimicry: Pathogenicity of Oncogenic Latent Membrane Protein-1 in Systemic Lupus Erythematosus and Autoimmunity.Frontiers in immunology · 2020Article
- Analysis of Genetic Variation in CD40 and CD40L: Relationship with mRNA Relative Expression and Soluble Proteins in Acute Coronary Syndrome.Journal of immunology research · 2019Article
- Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies.Muscle & nerve · 2018Review
- TRAF3 as a powerful and multitalented regulator of lymphocyte functions.Journal of leukocyte biology · 2016Review
- Identification of rheumatoid arthritis biomarkers based on single nucleotide polymorphisms and haplotype blocks: A systematic review and meta-analysis.Journal of advanced research · 2016Review
- Genetics of Lupus Nephritis: Clinical Implications.Seminars in nephrology · 2015Review
- Roles for TNF-receptor associated factor 3 (TRAF3) in lymphocyte functions.Cytokine & growth factor reviews · 2014Review
- Autoimmunity and the gut.Autoimmune diseases · 2014Review
- Article
- Single nucleotide polymorphisms in multiple sclerosis: disease susceptibility and treatment response biomarkers.Immunologic research · 2012Review
- Enhanced Toll-like receptor (TLR) responses of TNFR-associated factor 3 (TRAF3)-deficient B lymphocytes.Journal of leukocyte biology · 2011Article
- Roles of tumor necrosis factor receptor associated factor 3 (TRAF3) and TRAF5 in immune cell functions.Immunological reviews · 2011Review
- Differential TRAF3 utilization by a variant human CD40 receptor with enhanced signaling.Journal of immunology (Baltimore, Md. : 1950) · 2010Article
- CD40 and autoimmunity: the dark side of a great activator.Seminars in immunology · 2009Review
- Recent advances in the genetics of autoimmune disease.Annual review of immunology · 2009Review
- Survival analysis and microarray profiling identify Cd40 as a candidate for the Salmonella susceptibility locus, Ity5.Genes and immunityArticle
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
CD40 signaling is critical for innate and adaptive immunity against pathogens, and the cytoplasmic domain of CD40 is highly conserved both within and between species. A novel missense single nucleotide polymorphism (SNP) in the cytoplasmic domain of CD40 at position 227 (P227A) was identified, which resides on a conserved ancestral haplotype highly enriched in persons of Mexican and South American descent. Functional studies indicated that signaling via human (h) CD40-P227A stably expressed in several B-cell lines led to increased phosphorylation of c-Jun, increased secretion of the pro-inflammatory cytokines interleukin (IL)-6 and TNF-alpha, and increased Ig production, compared with wild-type hCD40. Cooperation between hCD40-P227A signaling and B-cell receptor (BCR)- or Toll-like receptor 9 (TLR9)-mediated signaling was also enhanced, resulting in elevated and synergistic production of IL-6 and Ig. We have thus identified a novel genetic variant of hCD40 with a gain-of-function immune phenotype.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.