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 Fischer; Anne Durandy

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

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	565-575
Number of pages	11
Journal	Cell
Volume	102
Issue number	5
Publication status	Published - Sept 1 2000

ASJC Scopus subject areas

Cell Biology
Molecular Biology

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.

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, AG, Brousse, N, Muramatsu, M, Notarangelo, LD, Kinoshita, K, Honjo, T, Fischer, A & Durandy, A 2000, 'Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2)', Cell, vol. 102, no. 5, pp. 565-575.

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

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.",

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AU - Revy, Patrick

AU - Muto, Taro

AU - Levy, Yves

AU - Geissmann, Frédéric

AU - Plebani, Alessandro

AU - Sanal, Ozden

AU - Catalan, Nadia

AU - Forveille, Monique

AU - Dufourcq-Lagelouse, Rémi

AU - Gennery, Andrew

AU - Tezcan, Ilhan

AU - Ersoy, Fugen

AU - Kayserili, Hulya

AU - Ugazio, Alberto G.

AU - Brousse, Nicole

AU - Muramatsu, Masamichi

AU - Notarangelo, Luigi D.

AU - Kinoshita, Kazuo

AU - Honjo, Tasuku

AU - Fischer, Alain

AU - Durandy, Anne

PY - 2000/9/1

Y1 - 2000/9/1

N2 - 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.

AB - 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.

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

Abstract

ASJC Scopus subject areas

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