Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome
Resumen: 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...
Idioma: Inglés
DOI: 10.1016/j.jaci.2017.06.043
Año: 2018
Publicado en: Journal of allergy and clinical immunology 141, 1 (2018), 408-411.e8
ISSN: 0091-6749

Factor impacto JCR: 14.11 (2018)
Categ. JCR: IMMUNOLOGY rank: 6 / 157 = 0.038 (2018) - Q1 - T1
Categ. JCR: ALLERGY rank: 1 / 27 = 0.037 (2018) - Q1 - T1

Factor impacto SCIMAGO: 3.702 - Immunology and Allergy (Q1) - Immunology (Q1)

Tipo y forma: Article (Published version)
Área (Departamento): Área Fisiología (Dpto. Farmacología y Fisiolog.)

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 Record created 2018-02-20, last modified 2020-01-17

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