Journal
ARTHRITIS RESEARCH & THERAPY
Volume 14, Issue 4, Pages -Publisher
BMC
DOI: 10.1186/ar3904
Keywords
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Categories
Funding
- Institut National de la Sante et de la Recherche Medicale
- European Union (EUROPAD) [201549]
- European Union (PID-IMMUNE, ERC) [232809]
- Association Contre Le Cancer
- Agence Nationale de la Recherche (ANR) [Blanc 2010-CSRD]
- ANR
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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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