ArticleGenes and immunity2007
Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia.
Article in Genes and immunity, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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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.
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Who cites it
11 citing papers in PubMed, 49 citations in OpenAlex.
- A novel SPI1 variant (c.566T > C (p.Ile189Thr)) possibly associated with autosomal dominant agammaglobulinemia in a Chinese girl.BMC pediatrics · 2026Article
- B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.Immunogenetics · 2024Article
- Diversity in the Clinical Course and Outcome of COVID-19 in Patients with Different Inborn Errors of Immunity can be Associated with the Type of Error.Advanced biomedical research · 2024Article
- Serum Proteomic Changes in Dogs with Different Stages of Chronic Heart Failure.Animals : an open access journal from MDPI · 2022Article
- Immunosuppressive therapy with rituximab in common variable immunodeficiency.Clinical and molecular allergy : CMA · 2019Review
- Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene.Genes and immunity · 2017Article
- Autosomal recessive agammaglobulinemia: the third case of Igβ deficiency due to a novel non-sense mutation.Journal of clinical immunology · 2014Article
- The genetic theory of infectious diseases: a brief history and selected illustrations.Annual review of genomics and human genetics · 2013Review
- Genetics of hypogammaglobulinemia: what do we really know?Current opinion in immunology · 2009Review
- Autosomal recessive agammaglobulinemia: novel insights from mutations in Ig-beta.Current allergy and asthma reports · 2008Review
- Mutations of the Igbeta gene cause agammaglobulinemia in man.The Journal of experimental medicine · 2007Article
Corrections and comments
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Authors and funding
17 authors at 10 institutions in 2 countries.
Funding
Abstract
Autosomal-recessive agammaglobulinemia is a rare and heterogeneous disorder, characterized by early-onset infections, profound hypogammaglobulinemia of all immunoglobulin isotypes and absence of circulating B lymphocytes. To investigate the molecular basis of the disease, 23 patients with early-onset disease and no mutations in Bruton tyrosine kinase, the gene responsible for X-linked agammaglobulinemia, were selected and analyzed by direct sequencing of candidate genes. Two novel mutations in the mu heavy chain (muHC) gene (IGHM) were identified in three patients belonging to two unrelated families. A fourth patient carries a previously described G>A nucleotide substitution at the -1 position of an alternative splice site in IGHM; here, we demonstrate that this mutation is indeed responsible for aberrant splicing. Comparison of bone marrow cytofluorimetric profiles in two patients carrying different mutations in the IGHM gene suggests a genotype-phenotype correlation with the stage at which B-cell development is blocked. Several new single nucleotide polymorphisms (SNPs) both in the muHC and in the lambda5-like/VpreB-coding genes were identified. Two unrelated patients carry compound heterozygous variations in the VpreB1 gene that may be involved in disease ethiology.
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