Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)
Authors:
- Horst von BernuthHBHorst von Bernuth
- Ethiraj RavindranEREthiraj Ravindran
- Hang DuHDHang Du
- Sebastian FröhlerSFSebastian Fröhler
- Karoline StrehlKSKaroline Strehl
- Nadine KrämerNKNadine Krämer
- Lina Issa-JahnsLILina Issa-Jahns
- Borko AmulicBABorko Amulic
- Olaf NinnemannONOlaf Ninnemann
- Mei-Sheng XiaoMXMei-Sheng Xiao
- Katharina EirichKEKatharina Eirich
- Uwe KölschUKUwe Kölsch
Open Access
- 21 October 2014
- journal article
- case report
- Published by Springer Nature in Orphanet Journal of Rare Diseases
- Vol. 9 (1) , 116
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.Keywords
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