Immunodeficiency-centromeric instability-facial anomalies syndrome 2

Common Name(s)

Immunodeficiency-centromeric instability-facial anomalies syndrome 2

Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by {2:de Greef et al., 2011}). For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 ({242860}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Immunodeficiency-centromeric instability-facial anomalies syndrome 2" 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 "Immunodeficiency-centromeric instability-facial anomalies syndrome 2" returned 1 free, full-text research articles on human participants. First 3 results:

Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).
 

Author(s): Horst von Bernuth, Ethiraj Ravindran, Hang Du, Sebastian Fröhler, Karoline Strehl, Nadine Krämer, Lina Issa-Jahns, Borko Amulic, Olaf Ninnemann, Mei-Sheng Xiao, Katharina Eirich, Uwe Kölsch, Kathrin Hauptmann, Rainer John, Detlev Schindler, Volker Wahn, Wei Chen, Angela M Kaindl

Journal:

 

The autosomal recessive immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) is characterized by immunodeficiency, developmental delay, and facial anomalies. ICF2, caused by biallelic ZBTB24 gene mutations, is acknowledged primarily as an isolated B-cell defect. ...

Last Updated: 31 Dec 1969

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The terms "Immunodeficiency-centromeric instability-facial anomalies syndrome 2" returned 0 free, full-text review articles on human participants.

 
 
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