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

Orphanet Journal of Rare Diseases

Angela M Kaindl⁷  Wei Chen⁵  Volker Wahn⁴  Detlev Schindler⁸  Rainer John⁷  Kathrin Hauptmann²  Uwe Kölsch⁶  Katharina Eirich⁸  Mei-Sheng Xiao⁵  Olaf Ninnemann³  Borko Amulic¹  Lina Issa-Jahns⁷  Nadine Krämer⁷  Karoline Strehl⁴  Sebastian Fröhler⁵  Hang Du⁵  Ethiraj Ravindran⁷  Horst von Bernuth⁶ 

[1] Max Planck Institute for Infection Biology, Berlin, Germany;Institute for Pathology, Charité ¿ Universitätsmedizin Berlin, Berlin, Germany;Institute of Cell Biology and Neurobiology, Charité ¿ Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, 13353, Germany;Pediatric Pneumology and Immunology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, 13353, Germany;Berlin Institute for Medical Systems Biology, Max-Delbrueck-Center for Molecular Medicine, Robert-Rössle-Str. 10, Berlin, 13092, Germany;Labor Berlin Charité Vivantes GmbH, Department of Immunology, Berlin, Germany;Pediatric Neurology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, 13353, Germany;Institute for Human Genetics, Biozentrum, Universität Würzburg, Würzburg, Germany

关键词: Granulomas;    Facial anomalies;    Centromeric instability;    Intellectual disability;    Microcephaly;    Immunodeficiency;    ICF2;    ZBTB24;   

Others  :  1149488
DOI  :  10.1186/s13023-014-0116-6

 received in 2014-05-29, accepted in 2014-07-08,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 von Bernuth et al.; licensee BioMed Central Ltd.

【 图 表 】

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