Human genetic defects in class-switch recombination (hyper-IgM syndromes).
Several genetic defects in class-switch recombination, leading to hyper-IgM syndromes, have been recently described in humans. Besides the well-known role of interaction between CD40-ligand and CD40, these pathological conditions definitively demonstrate the requirement of CD40-mediated NF-kappaB activation and the essential role of a newly described molecule, activation-induced cytidine deaminase (AID), in B cell terminal differentiation.
Durandy
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Institut National de la Santé et de la Recherche Médicale (INSERM) U429, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, Cedex 15, Paris, France. durandy@necker.fr
Honjo
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D000818:Animals; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics*; D017578:Immunoglobulin Class Switching / Q000235:genetics*; D007075:Immunoglobulin M / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D011995:Recombination, Genetic / Q000235:genetics*; D013577:Syndrome
D007075:Immunoglobulin M