Immunodeficiency - centromeric region instability - facial anomalies syndrome (Q102709)

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive primary immune deficiency characterised by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. Other variable symptoms include mild facial dysmorphism, growth retardation, failure to thrive, and psychomotor retardation.