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.
Components of the epigenetic machinery, in fact, are altered in various human diseases including neurologic disorders (e.g., Rett syndrome and [alpha]-thalassemia X-linked mental retardation), congenital malformation (e.g., Rubinstein Taybi syndrome), immune disorders (e.g., ICF syndrome), and even aging.
Chapter 6 provides a good synopsis of human diseases caused by epimutations, such as Rett syndrome, ICF syndrome, and fragile X syndrome.