Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)

@article{Ehrlich2006ImmunodeficiencyCR,
  title={Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)},
  author={M. Ehrlich and Kelly A Jackson and Corry M.R. Weemaes},
  journal={Orphanet Journal of Rare Diseases},
  year={2006},
  volume={1},
  pages={2 - 2}
}
The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease described in about 50 patients worldwide and characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. Other variable symptoms of this probably under-diagnosed syndrome include mild facial dysmorphism, growth… CONTINUE READING
36 Citations
83 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 36 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 83 references

DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphocyte migration, activation, and survival genes

  • M Ehrlich, K Buchanan, +11 authors S Hanash
  • Hum Mol Gen
  • 2001
Highly Influential
10 Excerpts

PM: ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome

  • DC Brown, E Grace, AT Summer, AT Edmunds, Ellis
  • Hum Genet
  • 1995
Highly Influential
6 Excerpts

Similar Papers

Loading similar papers…