ArticleThe Journal of experimental medicine2007
Mutations of the Igbeta gene cause agammaglobulinemia in man.
Article in The Journal of experimental medicine, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 94 citations in OpenAlex.
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- Fluoxetine Successfully Treats Intracranial Enterovirus E18 Infection in a Patient with CD79a Deficiency Arising from Segmental Uniparental Disomy of Chromosome 19.Journal of clinical immunology · 2024Article
- Inborn errors of human B cell development, differentiation, and function.The Journal of experimental medicine · 2023Review
- Mechanism of CD79A and CD79B Support for IgM+ B Cell Fitness through B Cell Receptor Surface Expression.Journal of immunology (Baltimore, Md. : 1950) · 2022Article
- Transcriptome-wide association study in UK Biobank Europeans identifies associations with blood cell traits.Human molecular genetics · 2022Article
- A New Missense Mutation in CD79B Leads to Autosomal Recessive Agammaglobulinemia in Two Siblings.Journal of clinical immunology · 2021Article
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- Update on Infections in Primary Antibody Deficiencies.Frontiers in immunology · 2021Review
- B Cell Disorders in Children-Part I.Current allergy and asthma reports · 2020Review
- Influenza-specific IgG1Clinical & translational immunology · 2020Article
- Integrated Transcriptome and Histone Modification Analysis Reveals NDV Infection Under Heat Stress Affects Bursa Development and Proliferation in Susceptible Chicken Line.Frontiers in genetics · 2020Article
- Predominantly Antibody-Deficient Patients With Non-infectious Complications Have Reduced Naive B, Treg, Th17, and Tfh17 Cells.Frontiers in immunology · 2019Article
- Conditional Selection of B Cells in Mice With an Inducible B Cell Development.Frontiers in immunology · 2018Article
- Dissecting Epigenetic Dysregulation of Primary Antibody Deficiencies.Journal of clinical immunology · 2016Review
- Synthetic biology for therapeutic applications.Molecular pharmaceutics · 2015Review
- Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies.The Journal of experimental medicine · 2014Article
- Autosomal recessive agammaglobulinemia: the third case of Igβ deficiency due to a novel non-sense mutation.Journal of clinical immunology · 2014Article
- Identification of a secondary promoter within the human B cell receptor component gene hCD79b.The Journal of biological chemistry · 2013Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 4 countries.
Funding
Abstract
Agammaglobulinemia is a rare primary immunodeficiency characterized by an early block of B cell development in the bone marrow, resulting in the absence of peripheral B cells and low/absent immunoglobulin serum levels. So far, mutations in Btk, mu heavy chain, surrogate light chain, Igalpha, and B cell linker have been found in 85-90% of patients with agammaglobulinemia. We report on the first patient with agammaglobulinemia caused by a homozygous nonsense mutation in Igbeta, which is a transmembrane protein that associates with Igalpha as part of the preBCR complex. Transfection experiments using Drosophila melanogaster S2 Schneider cells showed that the mutant Igbeta is no longer able to associate with Igalpha, and that assembly of the BCR complex on the cell surface is abrogated. The essential role of Igbeta for human B cell development was further demonstrated by immunofluorescence analysis of the patient's bone marrow, which showed a complete block of B cell development at the pro-B to preB transition. These results indicate that mutations in Igbeta can cause agammaglobulinemia in man.
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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.