Hyper-IgM syndromes: a model for studying the regulation of class switch recombination and somatic hypermutation generation.
Several genetic defects in class switch recombination, which lead to a hyper-IgM syndrome, have been described recently in humans. In addition to the well known role of CD40-ligand-CD40 interaction, these pathologies demonstrate definitively the requirement of CD40-mediated nuclear factor kappa B activation and the essential role of a recently described molecule, the activation-induced cytidine deaminase in an efficient humoral response, which includes class switch recombination and the production of high-affinity antibodies.
Inserm U429, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, Paris, France. durandy@necker.fr
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Durandy
D019013:CD40 Antigens / Q000235:genetics / Q000276:immunology; D023201:CD40 Ligand / Q000235:genetics / Q000276:immunology; D005786:Gene Expression Regulation / Q000276:immunology*; D005803:Genes, Immunoglobulin; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics* / Q000276:immunology; D017578:Immunoglobulin Class Switching / Q000276:immunology*; D007075:Immunoglobulin M / Q000235:genetics*; D008213:Lymphocyte Activation; D016328:NF-kappa B / Q000378:metabolism; D011995:Recombination, Genetic; D013577:Syndrome
D019013:CD40 Antigens; D007075:Immunoglobulin M; D016328:NF-kappa B; D023201:CD40 Ligand