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01-08-2012 | Review

Immunoglobulin class-switch recombination deficiencies

Authors: Anne Durandy, Sven Kracker

Published in: Arthritis Research & Therapy | Issue 4/2012

Abstract

Immunoglobulin class-switch recombination deficiencies (Ig-CSR-Ds) are rare primary immunodeficiencies characterized by defective switched isotype (IgG/IgA/IgE) production. Depending on the molecular defect in question, the Ig-CSR-D may be combined with an impairment in somatic hypermutation (SHM). Some of the mechanisms underlying Ig-CSR and SHM have been described by studying natural mutants in humans. This approach has revealed that T cell-B cell interaction (resulting in CD40-mediated signaling), intrinsic B-cell mechanisms (activation-induced cytidine deaminase-induced DNA damage), and complex DNA repair machineries (including uracil-N-glycosylase and mismatch repair pathways) are all involved in class-switch recombination and SHM. However, several of the mechanisms required for full antibody maturation have yet to be defined. Elucidation of the molecular defects underlying the diverse set of Ig-CSR-Ds is essential for understanding Ig diversification and has prompted better definition of the clinical spectrum of diseases and the development of increasingly accurate diagnostic and therapeutic approaches.

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Title: Immunoglobulin class-switch recombination deficiencies
Authors: Anne Durandy
Sven Kracker
Publication date: 01-08-2012
Publisher: BioMed Central
Published in: Arthritis Research & Therapy / Issue 4/2012
Electronic ISSN: 1478-6362
DOI: https://doi.org/10.1186/ar3904

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At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

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New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page