Immunodeficiency–centromeric instability–facial anomalies syndrome

ICF syndrome
Synonyms Immunodeficiency-centromeric instability-facial anomalies syndrome

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

Characteristics

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.

Genetics

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

References

  1. ↑ Online Mendelian Inheritance in Man (OMIM) 242860
  2. 1 2 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
Classification
External resources
  • Orphanet Journal of Rare Diseases link to ICF syndrome


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