- ICF syndrome
Infobox_Disease
Name = ICF syndrome
Caption =
DiseasesDB = 32366
ICD10 =
ICD9 =
ICDO =
OMIM = 242860
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =ICF syndrome (or Immunodeficiency, Centromere instability and Facial anomalies syndrome) [OMIM|242860] is a very rare
autosomal recessive cite journal |pmid=7557962 |year=1995 |month=Oct |author=Brown, Dc; Grace, E; Sumner, At; Edmunds, At; Ellis, Pm |title=ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome |volume=96 |issue=4 |pages=411–6 |issn=0340-6717 |journal=Human genetics]immune disorder .Genetics
ICF syndrome can be caused by a
mutation in the DNA-methyltransferase-3b ("Dnmt3b ")gene .cite journal |pmid=15580563 |doi=10.1002/humu.20113 |year=2005 |month=Jan |author=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 |title=DNMT3B mutations and DNA methylation defect define two types of ICF syndrome |volume=25 |issue=1 |pages=56–63 |journal=Human mutation]Presentation
It is characterized by variable reductions in serum
immunoglobulin levels which cause most ICF patients to succumb toinfectious disease s beforeadulthood . ICF syndrome patients exhibit facial anomalies which includehypertelorism ,low-set ears ,epicanthal fold s andmacroglossia .References
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