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={Patrick Revy and Taro Muto and Yves L{\'e}vy and Fr{\'e}d{\'e}ric Geissmann and Alessandro Plebani and {\"O}zden Sanal and Nadia Catalan and Monique Forveille and R{\'e}mi Dufourcq-Lagelouse and Andrew Gennery and I. Tezcan and F{\'u}gen Ersoy and H{\"u}lya Kayserili and Alberto G. Ugazio and Nicole Brousse and Masamichi Muramatsu and LuigiD. Notarangelo and Kazuo Kinoshita and T. Honjo and Alain Fischer and Anne H 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… CONTINUE READING
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References

Publications referenced by this paper.
SHOWING 1-10 OF 73 REFERENCES

Abnormal development and function of B CD95 and IL-1

  • H. Jumaa, B. Wollscheid, M. Mitterer, J. Wienands, M. Reth, P. J. Nielsen
  • Nature
  • 1999
3 Excerpts

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