Immunodeficiency centromeric instability facial
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The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease described in about 50 patients.
Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency syndrome, variable; Centromeric instability, immunodeficiency .
Description:The findings that ICF B-cell lines and lymphocytes in vivo are prone to micronucleus formation and apoptosis [ 9 , 70 - 72 ] are consistent with the apparently normal cell cycle checkpoints in ICF B-cell lines [ 55 ]. From the above-mentioned studies, short-term AF cultures are less likely to have culture-associated chromosomal artifacts than analogous CV cultures. DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphocyte migration, activation, and survival genes. The frequency of these rearrangements is high enough to be detected upon routine cytogenetic examination of metaphase chromosomes.