RGD Reference Report - Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). - Rat Genome Database

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

Authors: Revy, P  Muto, T  Levy, Y  Geissmann, F  Plebani, A  Sanal, O  Catalan, N  Forveille, M  Dufourcq-Labelouse, 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 
Citation: Revy P, etal., Cell. 2000 Sep 1;102(5):565-75.
RGD ID: 1598906
Pubmed: (View Article at PubMed) PMID:11007475

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.

Annotation

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Aicda  (activation-induced cytidine deaminase)

Genes (Mus musculus)
Aicda  (activation-induced cytidine deaminase)

Genes (Homo sapiens)
AICDA  (activation induced cytidine deaminase)


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