ICF syndrome

Jump to: navigation, search
ICF syndrome
OMIM 242860
DiseasesDB 32366

WikiDoc Resources for ICF syndrome

Articles

Most recent articles on ICF syndrome

Most cited articles on ICF syndrome

Review articles on ICF syndrome

Articles on ICF syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on ICF syndrome

Images of ICF syndrome

Photos of ICF syndrome

Podcasts & MP3s on ICF syndrome

Videos on ICF syndrome

Evidence Based Medicine

Cochrane Collaboration on ICF syndrome

Bandolier on ICF syndrome

TRIP on ICF syndrome

Clinical Trials

Ongoing Trials on ICF syndrome at Clinical Trials.gov

Trial results on ICF syndrome

Clinical Trials on ICF syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on ICF syndrome

NICE Guidance on ICF syndrome

NHS PRODIGY Guidance

FDA on ICF syndrome

CDC on ICF syndrome

Books

Books on ICF syndrome

News

ICF syndrome in the news

Be alerted to news on ICF syndrome

News trends on ICF syndrome

Commentary

Blogs on ICF syndrome

Definitions

Definitions of ICF syndrome

Patient Resources / Community

Patient resources on ICF syndrome

Discussion groups on ICF syndrome

Patient Handouts on ICF syndrome

Directions to Hospitals Treating ICF syndrome

Risk calculators and risk factors for ICF syndrome

Healthcare Provider Resources

Symptoms of ICF syndrome

Causes & Risk Factors for ICF syndrome

Diagnostic studies for ICF syndrome

Treatment of ICF syndrome

Continuing Medical Education (CME)

CME Programs on ICF syndrome

International

ICF syndrome en Espanol

ICF syndrome en Francais

Business

ICF syndrome in the Marketplace

Patents on ICF syndrome

Experimental / Informatics

List of terms related to ICF syndrome


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

Genetics

ICF syndrome has an autosomal recessive pattern of inheritance.

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

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

  1. Online Mendelian Inheritance in Man (OMIM) 242860
  2. Brown, Dc; Grace, E; Sumner, At; Edmunds, At; Ellis, Pm (1995). "ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome". Human genetics. 96 (4): 411–6. ISSN 0340-6717. PMID 7557962. Unknown parameter |month= ignored (help)
  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 (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. Unknown parameter |month= ignored (help)

nl:ICF syndroom