Exploring the intersection of epigenetics, DNA repair, and immunology from studies of ICF syndrome, an inborn error of immunity
Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome, a rare autosomal recessive disorder, manifests with hypoglobulinemia and chromosomal instability accompanied by DNA hypomethylation.Pathological variants in the DNMT3B, ZBTB24, CDCA7, 1196 or HELLS genes underlie its etiology.Activated lymphocytes from patients often di