ArticleBMC immunology2008
Screening of functional and positional candidate genes in families with common variable immunodeficiency.
Article in BMC immunology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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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
11 citing papers in PubMed, 37 citations in OpenAlex.
- Re-evaluation of the contribution ofJournal of human immunity · 2025Article
- Review
- Expression, Role, and Regulation of Neutrophil Fcγ Receptors.Frontiers in immunology · 2019Review
- APRIL gene polymorphism and serum sAPRIL levels in children with systemic lupus erythematosus.Clinical rheumatology · 2017Article
- Observational
- Three different classifications, B lymphocyte subpopulations, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF13 (APRIL) gene mutations, CTLA-4 and ICOS gene polymorphisms in Turkish patients with common variable immunodeficiency.Journal of clinical immunology · 2012Article
- Expression of essential B cell development genes in horses with common variable immunodeficiency.Molecular immunology · 2012Article
- Regulatory roles of the tumor necrosis factor receptor BCMA.Critical reviews in immunology · 2012Review
- Genome-wide scan identifies variant in TNFSF13 associated with serum IgM in a healthy Chinese male population.PloS one · 2012Article
- B-cell maturation and antibody responses in individuals carrying a mutated CD19 allele.Genes and immunity · 2010Article
- Next generation tools for the annotation of human SNPs.Briefings in bioinformatics · 2009Article
Corrections and comments
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Authors and funding
17 authors at 7 institutions in 5 countries.
Funding
Abstract
backgroundCommon variable immunodeficiency (CVID) comprises a heterogeneous group of primary antibody deficiencies with complex clinical and immunological phenotypes. The recent discovery that some CVID patients show monogenic defects in the genes encoding ICOS, TACI or CD19 prompted us to investigate several functional candidate genes in individuals with CVID.
resultsThe exonic, protein coding regions of the genes encoding: APRIL, BCMA, IL10, IL10Ralpha, IL10Rbeta, IL21, IL21R, and CCL18, were analyzed primarily in familial CVID cases, who showed evidence of genetic linkage to the respective candidate gene loci and CVID families with a recessive pattern of inheritance. Two novel SNPs were identified in exon 5 and exon 8 of the IL21R gene, which segregated with the disease phenotype in one CVID family. Eleven additional SNPs in the genes encoding BCMA, APRIL, IL10, IL10Ralpha, IL21 and IL21R were observed at similar frequencies as in healthy donors.
conclusionWe were unable to identify obvious disease causing mutations in the protein coding regions of the analyzed genes in the studied cohort.
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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.