Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome

Björkman, A. ; Du, L. ; van der Burg, M. ; Cormier-Daire, V. ; Borck, G. ; Pié, J. (Universidad de Zaragoza) ; Anderlid, B.-M. ; Hammarström, L. ; Ström, L. ; de Villartay, J.-P. ; Kipling, D. ; Dunn Walters, D. ; Pan-Hammarström, Q.

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.)