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- W2103873314 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." @default.
- W2103873314 created "2016-06-24" @default.
- W2103873314 creator A5025155115 @default.
- W2103873314 creator A5033994830 @default.
- W2103873314 date "2012-01-01" @default.
- W2103873314 modified "2023-10-18" @default.
- W2103873314 title "Immunoglobulin class-switch recombination deficiencies" @default.
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- W2103873314 doi "https://doi.org/10.1186/ar3904" @default.
- W2103873314 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3580555" @default.
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