Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive disease characterized by mild facial dysmorphism, hypo- or agammaglobulinemia, and branching of chromosomes 1, 9, and 16 after mitogen stimulation of lymphocytes. Detection of DNA hypomethylation at pericentromeric satellite-2 and satellite-3 repeats is used for definitive diagnosis of this syndrome.
Clinical and Cytological Features
ICF patients only possess naive (immature) B-cells in their peripheral blood; no or reduced number of memory and plasma cells, which produce immunoglobulins such as IgA, IgG, and/or IgM, are present in their blood. It has been shown that negative selection, which is a process of excluding autoreactive B-cells, is impaired, resulting in blockage of B-cell maturation and subsequent immunodeficiency. This causes severe recurrent infections, which are often seen in early childhood, and leads to early death of...
KeywordsPericentromeric Region Pericentromeric Heterochromatin Facial Anomaly Centromeric Repeat Hypomorphic Mutation
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