Immunodeficiency, centromere instability and facial abnormalities syndrome (ICF)

Defects in DNMT3B are a cause of immunodeficiency-centromeric instability-facial anomalies syndrome. ICF is a rare autosomal recessive disorder characterized by a variable immunodeficiency, mild facial anomalies, and centromeric heterochromatin instability involving chromosomes 1, 9, and 16. ICF is biochemically characterized by hypomethylation of CpG sites in some regions of heterochromatin.

Alternative names

ICF

ICF syndrome

Classification

  • DNA breakage associated syndromes

Inheritance

Autosomal recessive

OMIM

#242860 Immunodeficiency, centromere instability and facial abnormalities syndrome (ICF)

*602900 DNA methyltransferase 3b; DNMT3B

Incidence

1:200,000