Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome

Autor: Björkman, A., Du, L., van der Burg, M., Cormier-Daire, V., Borck, G., Pié, J., Anderlid, B.-M., Hammarström, L., Ström, L., de Villartay, J.-P., Kipling, D., Dunn Walters, D., Pan-Hammarström, Q.
Přispěvatelé: Immunology
Jazyk: angličtina
Rok vydání: 2017
Předmět:
Zdroj: Björkman, A, Du, L, van der Burg, M, Cormier-Daire, V, Borck, G, Pié, J, Anderlid, B-M, Hammarström, L, Ström, L, Villartay, J-P D, Kipling, D, Dunn-Walters, D & Pan-Hammarström, Q 2017, ' Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome ', Journal of Allergy and Clinical Immunology . https://doi.org/10.1016/j.jaci.2017.06.043
Journal of Allergy and Clinical Immunology, 141(1), 408-+. Mosby Inc.
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
ISSN: 0091-6749
DOI: 10.1016/j.jaci.2017.06.043
Popis: To the Editor: B cells rely on a broad receptor repertoire to provide protection against a wide range of pathogens. This is in part achieved through V(D)J recombination, which, by assembling various combinations of variable (V), diversity (D), and joining (J) genes, creates different IgV regions.1 The recombination processes is initiated by recombination-activating gene (RAG) 1/RAG2 enzymes and requires a functional nonhomologous end-joining (NHEJ) machinery. B cells can further diversify their IgV regions through somatic hypermutation (SHM) to improve affinity between the antibody and antigen and switch the isotype of antibody produced by class-switch recombination (CSR). Both processes are initiated by activation-induced cytidine deaminase (AID) and rely on transcription and a number of DNA repair mechanisms...
Databáze: OpenAIRE
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