ICF syndrome

From Wikipedia, the free encyclopedia

 This article does not cite any references or sources. (March 2008)
Please help improve this article by adding citations to reliable sources. Unverifiable material may be challenged and removed.


ICF syndrome
Classification and external resources
OMIM 242860
DiseasesDB 32366

ICF syndrome (or Immunodeficiency, centromere instability and facial anomalies syndrome) is a very rare autosomal recessive immune disorder.

[edit] Genetics

ICF syndrome has an autosomal recessive pattern of inheritance.
ICF syndrome has an autosomal recessive pattern of inheritance.

ICF syndrome can be caused by a mutation in the DNA-methyltransferase-3b (Dnmt3b) gene.[1]

[edit] 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.

[edit] References

  1. ^ Jiang YL, Rigolet M, Bourc'his D, et al (January 2005). "DNMT3B mutations and DNA methylation defect define two types of ICF syndrome". Hum. Mutat. 25 (1): 56–63. doi:10.1002/humu.20113. PMID 15580563. 
v • d • e
Pathology: Immune disorders (primarily D80-D89, 273, 279)
Immunodeficiency/
primary
Combined (B+T)
Other
ICF syndrome
Immunoproliferative
Hypersensitivity
 This immunology article is a stub. You can help Wikipedia by expanding it.
 This genetic disorder article is a stub. You can help Wikipedia by expanding it.