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| Item Type: | Letter |
|---|---|
| Title: | Combined immunodeficiency develops with age in immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2) |
| Creators Name: | von Bernuth, H. and Ravindran, E. and Du, H. and Froehler, S. and Strehl, K. and Kraemer, N. and Issa-Jahns, L. and Amulic, B. and Ninnemann, O. and Xiao, M.S. and Eirich, K. and Koelsch, U. and Hauptmann, K. and John, R. and Schindler, D. and Wahn, V. and Chen, W. and Kaindl, A.M. |
| 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: | ZBTB24, ICF2, Immunodeficiency, Microcephaly, Intellectual Disability, Centromeric Instability, Facial Anomalies, Granulomas |
| Source: | Orphanet Journal of Rare Diseases |
| ISSN: | 1750-1172 |
| Publisher: | BioMed Central |
| Volume: | 9 |
| Number: | 1 |
| Page Range: | 116 |
| Date: | 21 October 2014 |
| Official Publication: | https://doi.org/10.1186/s13023-014-0116-6 |
| PubMed: | View item in PubMed |
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