ICF syndrome

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 recessivecite 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 to infectious diseases before adulthood. ICF syndrome patients exhibit facial anomalies which include hypertelorism, low-set ears, epicanthal folds and macroglossia.

References


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