ArticleProceedings of the National Academy of Sciences of the United States of America1994
Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- The Inhibition of CD40/CD154 Costimulatory Signaling in the Prevention of Renal Transplant Rejection in Nonhuman Primates: A Systematic Review and Meta Analysis.Frontiers in immunology · 2022Pooled it
- Safety and tolerability of tegoprubart in patients with amyotrophic lateral sclerosis: A Phase 2A clinical trial.PLoS medicine · 2024Trial
- X-linked hyper IgM syndrome with a novel CD40-ligand gene mutation suffered from infection of Talaromyces marneffei.Frontiers in immunology · 2026Article
- Hyperimmunoglobulin syndromes: A review of HIGM, HIES, and HIDS.Journal of translational autoimmunity · 2025Review
- Characteristics and clinical trial results of agonistic anti-CD40 antibodies in the treatment of malignancies.Oncology letters · 2020Review
- Multifunctional CD40L: pro- and anti-neoplastic activity.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Article
- The hyper IgM syndromes.Clinical reviews in allergy & immunology · 2014Review
- Clinical features and genetic analysis of 20 Chinese patients with X-linked hyper-IgM syndrome.Journal of immunology research · 2014Article
- CD154: an immunoinflammatory mediator in systemic lupus erythematosus and rheumatoid arthritis.Clinical & developmental immunology · 2012Review
- Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called "milder" mutants.Journal of clinical immunology · 2007Article
- HIGM syndrome caused by insertion of an AluYb8 element in exon 1 of the CD40LG gene.Immunogenetics · 2007Article
- Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.Nucleic acids research · 2006Article
- Biased exon/intron distribution of cryptic and de novo 3' splice sites.Nucleic acids research · 2005Article
- X-linked immunodeficiencies.Current allergy and asthma reports · 2004Review
- CD154 transcriptional regulation in primary human CD4 T cells.Immunologic research · 2003Review
- A primary immunodeficiency disorder associated with absence of lymphoid germinal centers.Journal of clinical immunology · 2002Article
- The hyper IgM syndrome.Current allergy and asthma reports · 2001Review
- X-linked hyper IgM syndrome.Clinical reviews in allergy & immunology · 2000Review
- X-linked immunodeficiency with hyper-IgM (XHIM).Clinical and experimental immunology · 2000Review
- Defects of T-cell effector function and post-thymic maturation in X-linked hyper-IgM syndrome.The Journal of clinical investigation · 1999Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
Recently, CD40L has been identified as the gene responsible for X chromosome-linked hyper-IgM syndrome (HIGM1). CD40L on activated T cells from HIGM1 patients fails to bind B-cell CD40 molecules, and subsequent analysis of CD40L transcripts by reverse transcription PCR demonstrated coding region mutations in these patients. This approach, however, is of limited use for prenatal diagnosis of HIGM1 in the early-gestation fetus. In this report, we have defined the genomic structure of the CD40L gene, which is composed of five exons and four intervening introns. With this information, we have defined at the genomic level the CD40L gene abnormalities for three previously described HIGM1 patients who demonstrated clustered deletions in the CD40L coding region. These different deletions arose from three distinct mechanisms, including (i) a splice donor mutation with exon skipping, (ii) a splice acceptor mutation with utilization of a cryptic splice site, and (iii) a deletion/insertion event with the creation of a new splice acceptor site. In addition, we have performed prenatal evaluation of an 11-week-old fetus at risk for HIGM1. CD40L genomic clones provide a starting point for further studies of the genetic elements that control CD40L expression. Our knowledge of the CD40L gene structure will prove useful for the identification of additional mutations in HIGM1 and for performing genetic counseling about this disease.
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Registered trials
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