Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2)

Patrick Revy, Taro Muto, Yves Levy, Frédéric Geissmann, Alessandro Plebani, Ozden Sanal, Nadia Catalan, Monique Forveille, Rémi Dufourcq-Lagelouse, Andrew Gennery, Ilhan Tezcan, Fugen Ersoy, Hulya Kayserili, Alberto G. Ugazio, Nicole Brousse, Masamichi Muramatsu, Luigi D. Notarangelo, Kazuo Kinoshita, Tasuku Honjo, Alain FischerAnne Durandy

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)565-575
Number of pages11
JournalCell
Volume102
Issue number5
Publication statusPublished - Sep 1 2000

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology

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  • Cite this

    Revy, P., Muto, T., Levy, Y., Geissmann, F., Plebani, A., Sanal, O., Catalan, N., Forveille, M., Dufourcq-Lagelouse, R., Gennery, A., Tezcan, I., Ersoy, F., Kayserili, H., Ugazio, A. G., Brousse, N., Muramatsu, M., Notarangelo, L. D., Kinoshita, K., Honjo, T., ... Durandy, A. (2000). Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2). Cell, 102(5), 565-575.