/immunodeficiency-centromeric instability-facial anomalies syndrome

immunodeficiency-centromeric instability-facial anomalies syndrome

Rare Disease

MONDO:0000133

Also Known As

immunodeficiency-centromeric instability-facial anomaliesimmunodeficiency-centromeric instability-facial anomalies syndromeCIIDICF syndrome

Definition

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized 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.