Immunodeficiency–centromeric instability–facial anomalies syndrome

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ICF syndrome
Classification and external resources
OMIM 242860
DiseasesDB 32366

ICF syndrome (or Immunodeficiency, Centromere instability and Facial anomalies syndrome)[1] is a very rare autosomal recessive[2] immune disorder.


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.


Immunodeficiency–centromeric instability–facial anomalies syndrome has an autosomal recessive pattern of inheritance.

ICF syndrome can be caused by a mutation in the DNA-methyltransferase-3b (Dnmt3b) gene, located on chromosome 20q11.2.[3][4] The disease is inherited in an autosomal recessive manner.[2]

See also[edit]


  1. ^ Online 'Mendelian Inheritance in Man' (OMIM) 242860
  2. ^ a b Brown, Dc; Grace, E; Sumner, At; Edmunds, At; Ellis, Pm (October 1995). "ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome". Human Genetics. 96 (4): 411–6. doi:10.1007/BF00191798. PMID 7557962. 
  3. ^ 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 (January 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. 
  4. ^ Online 'Mendelian Inheritance in Man' (OMIM) 602900

External links[edit]

  • Orphanet Journal of Rare Diseases link to ICF syndrome [1]