Immunodeficiency, Centromeric Instability, Facial Anomalies Syndrome Type 2 (ICF2): Combined Immunodeficiency, Autoimmune Phenomena, and Intellectual Disability

Abstract

Introduction: The immunodeficiency, centromeric instability, facial anomalies syndrome (ICF) is a rare autosomal recessive disease defined by immunodeficiency, developmental delay, and facial abnormalities. Centromeric instability results in chromosomal rearrangements and genomic methylation is due to a defect. ICF1 and 2 are caused by biallelic mutations in the DNA methyltransferase 3B gene DNMT3B and the zinc finger and BTB domain-containing 24 gene ZBTB24, respectively. Patients without immunodeficiency but only with facial dysmorphism and intellectual deficit exist.