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

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

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