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Orphanet J Rare Dis. 2014 Oct 21;9:116. doi: 10.1186/s13023-014-0116-6.

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

Author information

1
Pediatric Pneumology and Immunology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. horst.von-bernuth@charite.de.
2
Labor Berlin Charité Vivantes GmbH, Department of Immunology, Berlin, Germany. horst.von-bernuth@charite.de.
3
Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. ethiraj.ravindran@charite.de.
4
Pediatric Neurology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. ethiraj.ravindran@charite.de.
5
Berlin Institute for Medical Systems Biology, Max-Delbrueck-Center for Molecular Medicine, Robert-Rössle-Str. 10, 13092, Berlin, Germany. hang.du@mdc-berlin.de.
6
Berlin Institute for Medical Systems Biology, Max-Delbrueck-Center for Molecular Medicine, Robert-Rössle-Str. 10, 13092, Berlin, Germany. sebastian.froehler@mdc-berlin.de.
7
Pediatric Pneumology and Immunology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. karoline.strehl@charite.de.
8
Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. nadine.kraemer@charite.de.
9
Pediatric Neurology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. nadine.kraemer@charite.de.
10
Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. ina.jahns@charite.de.
11
Pediatric Neurology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. ina.jahns@charite.de.
12
Max Planck Institute for Infection Biology, Berlin, Germany. amulic@mpiib-berlin.mpg.de.
13
Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. olaf.ninnemann@charite.de.
14
Berlin Institute for Medical Systems Biology, Max-Delbrueck-Center for Molecular Medicine, Robert-Rössle-Str. 10, 13092, Berlin, Germany. mei-sheng.xiao@mdc-berlin.de.
15
Institute for Human Genetics, Biozentrum, Universität Würzburg, Würzburg, Germany. katharina.eirich@uni-wuerzburg.de.
16
Labor Berlin Charité Vivantes GmbH, Department of Immunology, Berlin, Germany. uwe.koelsch@charite.de.
17
Institute for Pathology, Charité - Universitätsmedizin Berlin, Berlin, Germany. kathrin.hauptmann@charite.de.
18
Pediatric Neurology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. rainer.john@charite.de.
19
Institute for Human Genetics, Biozentrum, Universität Würzburg, Würzburg, Germany. schindler@biozentrum.uni-wuerzburg.de.
20
Pediatric Pneumology and Immunology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. volker.wahn@charite.de.
21
Berlin Institute for Medical Systems Biology, Max-Delbrueck-Center for Molecular Medicine, Robert-Rössle-Str. 10, 13092, Berlin, Germany. wei.chen@mdc-berlin.de.
22
Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. angela.kaindl@charite.de.
23
Pediatric Neurology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. angela.kaindl@charite.de.

Abstract

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. Here, we extend the phenotype spectrum by describing, in particular, for the first time the development of a combined immune defect throughout the disease course as well as putative autoimmune phenomena such as granulomatous hepatitis and nephritis. We also demonstrate impaired cell-proliferation and increased cell death of immune and non-immune cells as well as data suggesting a chromosome separation defect in addition to the known chromosome condensation defect.

PMID:
25330735
PMCID:
PMC4230835
DOI:
10.1186/s13023-014-0116-6
[Indexed for MEDLINE]
Free PMC Article

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