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Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome

Björkman, Andrea, Du, Likun, van der Burg, Mirjam, Cormier-Daire, Valerie, Borck, Guntram, Pié, Juan, Anderlid, Britt-Marie, Hammarström, Lennart, Ström, Lena, de Villartay, Jean-Pierre , Kipling, David, Dunn-Walters, Deborah and Pan-Hammarström, Qiang (2017) Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome Journal of Allergy and Clinical Immunology, 141 (1). 408-411.e8.

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Cohesin associated proteins NIPBL and SMC1A are involved in V(D)J recombination and somatic hypermutation in human B-cells.docx - Accepted version Manuscript
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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).

Item Type: Article
Divisions : Faculty of Health and Medical Sciences > School of Biosciences and Medicine
Authors :
Björkman, Andrea
Du, Likun
van der Burg, Mirjam
Cormier-Daire, Valerie
Borck, Guntram
Pié, Juan
Anderlid, Britt-Marie
Hammarström, Lennart
Ström, Lena
de Villartay, Jean-Pierre
Kipling, David
Pan-Hammarström, Qiang
Date : 4 August 2017
DOI : 10.1016/j.jaci.2017.06.043
Copyright Disclaimer : © 2017 The Authors. Published by Elsevier Inc. on behalf of the American Academy of Allergy, Asthma & Immunology. This is an open access article under the CC BY-NCND license (
Depositing User : Clive Harris
Date Deposited : 05 Jul 2017 07:26
Last Modified : 16 Jan 2019 18:53

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