ICF syndrome
ICF syndrome (or Immunodeficiency, Centromere instability and Facial anomalies syndrome)[1] is a very rare autosomal recessive[2] immune disorder.
Genetics
ICF syndrome can be caused by a mutation in the DNA-methyltransferase-3b (Dnmt3b) gene.[3]
Presentation
It is characterized by variable reductions in serum immunoglobulin levels which cause most ICF patients to succumb to infectious diseases before adulthood. ICF syndrome patients exhibit facial anomalies which include hypertelorism, low-set ears, epicanthal folds and macroglossia.
References
- ↑ Online Mendelian Inheritance in Man (OMIM) 242860
- ↑ Brown, Dc; Grace, E; Sumner, At; Edmunds, At; Ellis, Pm (1995). “ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome”. Human genetics. 96 (4): 411–6. ISSN 0340-6717. PMID 7557962. Unknown parameter
|month=ignored (help) - ↑ Jiang, Yl; Rigolet, M; Bourc’His, D; Nigon, F; Bokesoy, I; Fryns, Jp; Hultén, M; Jonveaux, P; Maraschio, P; Mégarbané, A; Moncla, A; Viegas-Péquignot, E (2005). “DNMT3B mutations and DNA methylation defect define two types of ICF syndrome”. Human mutation. 25 (1): 56–63. doi:10.1002/humu.20113. PMID 15580563. Unknown parameter
|month=ignored (help)
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