Epigenomic and transcriptional effects of Dnmt3b mutations in human ICF syndrome-derived B cell lines.

Immunodeficiency, Centromeric region instability, Facial anomalies (ICF) syndrome (OMIM 242860), is a human autosomic recessive disease due to mutations in the Dnmt3b gene, characterized by inheritance of aberrant patterns of DNA methylation and heterochromatin defects (1). How mutations in Dnmt3B and the resulting deficiency in DNA methyltransferase activity result mainly in immunodeficiency has not been clarified yet. Patients show variable agammaglobulinemia and a reduced number of T cells, making them prone to infections ...