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Arthritis Research & Therapy
Erschienen in: Arthritis Research & Therapy 4/2012

01.08.2012 | Review

Immunoglobulin class-switch recombination deficiencies

verfasst von: Anne Durandy, Sven Kracker

Erschienen in: Arthritis Research & Therapy | Ausgabe 4/2012

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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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Metadaten
Titel
Immunoglobulin class-switch recombination deficiencies
verfasst von
Anne Durandy
Sven Kracker
Publikationsdatum
01.08.2012
Verlag
BioMed Central
Erschienen in
Arthritis Research & Therapy / Ausgabe 4/2012
Elektronische ISSN: 1478-6362
DOI
https://doi.org/10.1186/ar3904

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