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Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)
- Source :
- Cell. 102:565-575
- Publication Year :
- 2000
- Publisher :
- Elsevier BV, 2000.
-
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.
- Subjects :
- 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
Subjects
Details
- ISSN :
- 00928674
- Volume :
- 102
- Database :
- OpenAIRE
- Journal :
- Cell
- Accession number :
- edsair.doi.dedup.....5fe45370c3f96376098ce23fc44b7305