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Up to: Autosomal recessive disease · Telomere syndrome

Immunodeficiency-centromeric instability-facial anomalies syndrome

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.

1 trial tagged with this condition →