title: Immunodeficiencies due to defects of class-switch recombination.
abstract: Maturation of the antibody response is dependent on class-switch recombination (CSR) and somatic hypermutation (SHM), that modify the structure and the affinity of immunoglobulins, respectively. The cellular and molecular mechanisms involved in these processes have long remained obscure. During the last years, careful investigation of a cohort of rare patients with defective antibody responses have led to the identification of several genes that are critically involved in CSR and SHM. At the same time, recognition that defective maturation of antibody responses may result from different mechanisms, has been essential to better define prognosis and to tailor more appropriate and specific forms of treatment.
authors.affiliation: Department of Pediatrics, Angelo Nocivelli Institute for Molecular Medicine, University of Brescia, Brescia, Italy. luigi.notarangelo@childrens.harvard.edu
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: Gaetana
authors.initials: G
authors.lastname: Lanzi
authors.forename: Paola
authors.initials: P
authors.lastname: Toniati
authors.forename: Silvia
authors.initials: S
authors.lastname: Giliani
mesh_terms: D000917:Antibody Formation / Q000235:genetics*; D019013:CD40 Antigens / Q000235:genetics / Q000276:immunology; D023201:CD40 Ligand / Q000235:genetics / Q000276:immunology; D003564:Cytidine Deaminase / Q000378:metabolism; D006801:Humans; D017578:Immunoglobulin Class Switching; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D016328:NF-kappa B / Q000378:metabolism; D027041:Somatic Hypermutation, Immunoglobulin; D051981:Uracil-DNA Glycosidase / Q000378:metabolism
chemical_list: D019013:CD40 Antigens; D016328:NF-kappa B; D023201:CD40 Ligand; D051981:Uracil-DNA Glycosidase; D003564:Cytidine Deaminase