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Genetic and Clinical Heterogeneity in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 

Genetic and Clinical Heterogeneity in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome
Chapter:
Genetic and Clinical Heterogeneity in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome
Author(s):

Silvère Van Der Maarel

and Corry Weemaes

DOI:
10.1093/med/9780199934522.003.0145
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date: 08 March 2021

ICF syndrome (OMIM 242860 and 614069) is an acronym for Immunodeficiency, Centromeric instability and Facial anomalies syndrome (Hulten, 1978; Tiepolo et al., 1978; Tiepolo et al., 1979). ICF syndrome is a very rare autosomal recessive disorder that is primarily characterized by variable combined immunodeficiency. ICF syndrome is the first disease directly related to a constitutive DNA methylation defect leading to the cytogenetic hall mark of this disease of centromeric chromosome abnormalities in phytohemagglutine stimulated lymphocytes. Currently, mutations in two genes have been identified that collectively explain 70-80% of all patients reported (Weemaes et al., 2013). Although the pathomechanism of ICF syndrome remains largely elusive, it is expected that the identification of new ICF genes will facilitate further understanding of how epigenetic defects can lead to a primary immunodeficiency.

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