ICF syndrome

ICF syndrome

Immunodeficiency-centromeric instability-facial anomalies syndrome. A rare (50 cases in the literature, but likely underdiagnosed) autosomal recessive condition, characterised by immunodeficiency with recurrent infections, typical juxtacentromeric rearrangements in the heterochromatin of chromosomes 1, 16 and sometimes 9, mild facial dysmorphism, growth retardation, failure to thrive and psychomotor retardation.
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Such patients with elevated D-dimer are said to have ICF syndrome.
ICF syndrome is classified into compensated, decompensated, and overcompensated types based on low, adequate, and high platelet levels of the patient, respectively.
Chapter 6 provides a good synopsis of human diseases caused by epimutations, such as Rett syndrome, ICF syndrome, and fragile X syndrome.