Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

@article{Revy2000ActivationInducedCD,
  title={Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)},
  author={P. Revy and T. Muto and Y. L{\'e}vy and F. Geissmann and A. Plebani and O. Sanal and Nadia Catalan and M. Forveille and R. Dufourcq-Lagelouse and A. Gennery and I. Tezcan and F. Ersoy and H. Kayserili and A. Ugazio and N. Brousse and M. Muramatsu and L. Notarangelo and K. Kinoshita and T. Honjo and A. Fischer and A. Durandy},
  journal={Cell},
  year={2000},
  volume={102},
  pages={565-575}
}
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… Expand
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