ArticleThe Journal of experimental medicine1998
Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia.
Article in The Journal of experimental medicine, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers.
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Who cites it
67 citing papers in PubMed, 273 citations in OpenAlex.
- Investigating serum free light chains in patients with common variable immunodeficiency disorder in compare with other immunodeficiency diseases.Scientific reports · 2026Article
- The Crosstalk Between B Cells and the Skeletal System During Development, Aging, and in Pathological Conditions.Current osteoporosis reports · 2025Review
- Human genetic influences on early B cell development.Journal of human immunity · 2025Review
- Two case reports of B-cell lymphopenia associated withFrontiers in pediatrics · 2025Article
- Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.Journal of clinical immunology · 2024Article
- Inborn errors of human B cell development, differentiation, and function.The Journal of experimental medicine · 2023Review
- Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.Cellular & molecular immunology · 2021Review
- Update on Infections in Primary Antibody Deficiencies.Frontiers in immunology · 2021Review
- It Takes Three Receptors to Raise a B Cell.Trends in immunology · 2020Review
- B Cell Disorders in Children-Part I.Current allergy and asthma reports · 2020Review
- Serum Free Immunoglobulins Light Chains: A Common Feature of Common Variable Immunodeficiency?Frontiers in immunology · 2020Article
- Influenza-specific IgG1Clinical & translational immunology · 2020Article
- Predominantly Antibody-Deficient Patients With Non-infectious Complications Have Reduced Naive B, Treg, Th17, and Tfh17 Cells.Frontiers in immunology · 2019Article
- Bronchiectasis and deteriorating lung function in agammaglobulinaemia despite immunoglobulin replacement therapy.Clinical and experimental immunology · 2018Article
- PI3K induces B-cell development and regulates B cell identity.Scientific reports · 2018Article
- The Role of the Pre-B Cell Receptor in B Cell Development, Repertoire Selection, and Tolerance.Frontiers in immunology · 2018Review
- Delayed Diagnosis and Complications of Predominantly Antibody Deficiencies in a Cohort of Australian Adults.Frontiers in immunology · 2018Article
- The Sel1L-Hrd1 Endoplasmic Reticulum-Associated Degradation Complex Manages a Key Checkpoint in B Cell Development.Cell reports · 2016Article
- Copy number variation of genes involved in the hepatitis C virus-human interactome.Scientific reports · 2016Article
- Heterogeneity of Human Neutrophil CD177 Expression Results from CD177P1 Pseudogene Conversion.PLoS genetics · 2016Article
7 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
B cell precursors transiently express a pre-B cell receptor complex consisting of a rearranged mu heavy chain, a surrogate light chain composed of lambda5/14.1 and VpreB, and the immunoglobulin (Ig)-associated signal transducing chains, Igalpha and Igbeta. Mutations in the mu heavy chain are associated with a complete failure of B cell development in both humans and mice, whereas mutations in murine lambda5 result in a leaky phenotype with detectable humoral responses. In evaluating patients with agammaglobulinemia and markedly reduced numbers of B cells, we identified a boy with mutations on both alleles of the gene for lambda5/14.1. The maternal allele carried a premature stop codon in the first exon of lambda5/14.1 and the paternal allele demonstrated three basepair substitutions in a 33-basepair sequence in exon 3. The three substitutions correspond to the sequence in the lambda5/14. 1 pseudogene 16.1 and result in an amino acid substitution at an invariant proline. When expressed in COS cells, the allele carrying the pseudogene sequence resulted in defective folding and secretion of mutant lambda5/14.1. These findings indicate that expression of the functional lambda5/14.1 is critical for B cell development in the human.
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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.