Article
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
Journal of medical genetics - 1 Feb 2008
Hagleitner M M, Lankester A, Maraschio P, Hultén M, Fryns J P, Schuetz C, Gimelli G, Davies E G, Gennery A, Belohradsky B H, de Groot R, Gerritsen E J A, Mattina T, Howard P J, Fasth A, Reisli I, Furthner D, Slatter M A, Cant A J, Cazzola G, van Dijken P J, van Deuren M, de Greef J C, van der Maarel S M, Weemaes C M R
Abstract excerpt
BACKGROUND: Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a rare autosomal recessive disease characterised by facial dysmorphism, immunoglobulin deficiency and branching of chromosomes 1, 9 and 16 after PHA stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients which is explained by mutations in the DNA...
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