ICF syndrome

Common Name(s)

ICF syndrome, Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency, Centromeric Instability Immunodeficiency Syndrome

Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and branching of chromosomes 1, 9, and 16 after phytohemagglutinin (PHA) stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients that is explained by mutations in the DNMT3B gene in some, but not all, ICF patients ({11:Hagleitner et al., 2008}). Genetic Heterogeneity of Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome ICF2 ({614069}) is caused by mutation in the ZBTB24 gene ({614064}) on chromosome 6q21.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "ICF syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "ICF syndrome" returned 28 free, full-text research articles on human participants. First 3 results:

Generation of an ICF syndrome model by efficient genome editing of human induced pluripotent stem cells using the CRISPR system.
 

Author(s): Takuro Horii, Daiki Tamura, Sumiyo Morita, Mika Kimura, Izuho Hatada

Journal:

 

Genome manipulation of human induced pluripotent stem (iPS) cells is essential to achieve their full potential as tools for regenerative medicine. To date, however, gene targeting in human pluripotent stem cells (hPSCs) has proven to be extremely difficult. Recently, an efficient ...

Last Updated: 2 Oct 2013

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Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
 

Author(s): Corry M R Weemaes, Maarten J D van Tol, Jun Wang, Monique M van Ostaijen-ten Dam, Marja C J A van Eggermond, Peter E Thijssen, Caner Aytekin, Nicola Brunetti-Pierri, Mirjam van der Burg, E Graham Davies, Alina Ferster, Dieter Furthner, Giorgio Gimelli, Andy Gennery, Barbara Kloeckener-Gruissem, Stephan Meyn, Cynthia Powell, Ismail Reisli, Catharina Schuetz, Ansgar Schulz, Andrea Shugar, Peter J van den Elsen, Silvère M van der Maarel

Journal: Eur. J. Hum. Genet.. 2013 Nov;21(11):1219-25.

 

Immunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a primary immunodeficiency, predominantly characterized by agammaglobulinemia or hypoimmunoglobulinemia, centromere instability and facial anomalies. Mutations in two genes have been discovered to ...

Last Updated: 17 Oct 2013

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Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst.
 

Author(s): Manuela Cerbone, Jun Wang, Silvère M Van der Maarel, Alessandra D'Amico, Antonio D'Agostino, Alfonso Romano, Nicola Brunetti-Pierri

Journal: Am. J. Med. Genet. A. 2012 Aug;158A(8):2043-6.

 

The immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome is an autosomal recessive disease presenting with immunodeficiency secondary to hypo- or agamma-globulinemia, developmental delay, and facial anomalies. Centromeric instability is the cytogenetic hallmark ...

Last Updated: 23 Jul 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "ICF syndrome" returned 3 free, full-text review articles on human participants. First 3 results:

ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation.
 

Author(s): Melanie Ehrlich, Cecilia Sanchez, Chunbo Shao, Rie Nishiyama, John Kehrl, Rork Kuick, Takeo Kubota, Samir M Hanash

Journal: Autoimmunity. 2008 May;41(4):253-71.

 

The immunodeficiency, centromeric region instability, and facial anomalies syndrome (ICF) is the only disease known to result from a mutated DNA methyltransferase gene, namely, DNMT3B. Characteristic of this recessive disease are decreases in serum immunoglobulins despite the presence ...

Last Updated: 24 Apr 2008

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A systematic review of outcomes assessed in randomized controlled trials of surgical interventions for carpal tunnel syndrome using the International Classification of Functioning, Disability and Health (ICF) as a reference tool.
 

Author(s): Christina Jerosch-Herold, José C de Carvalho Leite, Fujian Song

Journal:

 

A wide range of outcomes have been assessed in trials of interventions for carpal tunnel syndrome (CTS), however there appears to be little consensus on what constitutes the most relevant outcomes. The purpose of this systematic review was to identify the outcomes assessed in randomized ...

Last Updated: 21 Dec 2006

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Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF).
 

Author(s): Melanie Ehrlich, Kelly Jackson, Corry Weemaes

Journal:

 

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease described in about 50 patients worldwide and characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity ...

Last Updated: 25 May 2006

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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