immunodeficiency centromeric instability-facial anomalies (ICF) syndrome
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Epidemiology
- rare
Genetics
- autosomal recessive
- associated with defects in DNMT3B
- centromeric heterochromatin instability involving chromosomes 1, 9, & 16
- hypomethylation of CpG sites in some regions of heterochromatin
Clinical manifestations
- variable immunodeficiency
- mild facial anomalies