Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)
| Autor: | Yves Levy, Alain Fischer, Alessandro Plebani, Ozden Sanal, Frederic Geissmann, Ilhan Tezcan, Kazuo Kinoshita, Masamichi Muramatsu, Anne Durandy, Hülya Kayserili, Nicole Brousse, Monique Forveille, Fügen Ersoy, Patrick Revy, Dufourcq-Lagelouse R, Alberto G. Ugazio, Nadia Catalan, Taro Muto, Tasuku Honjo, Luigi D. Notarangelo, Andrew R. Gennery |
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| Přispěvatelé: | Çocuk Sağlığı ve Hastalıkları |
| Rok vydání: | 2000 |
| Předmět: |
Biochemistry & Molecular Biology
Hyper IgM syndrome Biochemistry Genetics and Molecular Biology(all) APOBEC1 Somatic hypermutation Germinal center Cell Biology Cytidine deaminase Biology medicine.disease Molecular biology General Biochemistry Genetics and Molecular Biology Cytidine deamination Immunoglobulin class switching medicine Activation-induced (cytidine) deaminase biology.protein |
| Zdroj: | Cell. 102:565-575 |
| ISSN: | 0092-8674 |
| DOI: | 10.1016/s0092-8674(00)00079-9 |
| Popis: | The activation-induced cytidine deaminase (AID) gene, specifically expressed in germinal center B cells in mice, is a member of the cytidine deaminase family. We herein report mutations in the human counterpart of AID in patients with the autosomal recessive form of hyper-IgM syndrome (HIGM2). Three major abnormalities characterize AID deficiency: (1) the absence of immunoglobulin class switch recombination, (2) the lack of immunoglobulin somatic hypermutations, and (3) lymph node hyperplasia caused by the presence of giant germinal centers. The phenotype observed in HIGM2 patients (and in AID−/− mice) demonstrates the absolute requirement for AID in several crucial steps of B cell terminal differentiation necessary for efficient antibody responses. |
| Databáze: | OpenAIRE |
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