ICF, An Immunodeficiency Syndrome: DNA Methyltransferase 3B Involvement, Chromosome Anomalies, and Gene Dysregulation

@article{Ehrlich2008ICFAI,
  title={ICF, An Immunodeficiency Syndrome: DNA Methyltransferase 3B Involvement, Chromosome Anomalies, and Gene Dysregulation},
  author={M. Ehrlich and C. B. Gonz{\'a}lez - S{\'a}nchez and Chunbo Shao and Rie Nishiyama and John H Kehrl and Rork Kuick and Takeo Kubota and Samir M Hanash},
  journal={Autoimmunity},
  year={2008},
  volume={41},
  pages={253 - 271}
}
The immunodeficiency, centromeric region instability, and facial anomalies syndrome (ICF) is the only disease known to result from a mutated DNA methyltransferase gene, namely, DNMT3B. Characteristic of this recessive disease are decreases in serum immunoglobulins despite the presence of B cells and, in the juxtacentromeric heterochromatin of chromosomes 1 and 16, chromatin decondensation, distinctive rearrangements, and satellite DNA hypomethylation. Although DNMT3B is involved in specific… CONTINUE READING