Immunodeficiencies due to defects of class-switch recombination.
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.
Notarangelo
Luigi D
LD
Department of Pediatrics, Angelo Nocivelli Institute for Molecular Medicine, University of Brescia, Brescia, Italy. luigi.notarangelo@childrens.harvard.edu
Lanzi
Gaetana
G
Toniati
Paola
P
Giliani
Silvia
S
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
D019013:CD40 Antigens; D016328:NF-kappa B; D023201:CD40 Ligand; D051981:Uracil-DNA Glycosidase; D003564:Cytidine Deaminase