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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., Ravindran, E., Du, H., Froehler, S., Strehl, K., Kraemer, N., Issa-Jahns, L., Amulic, B., Ninnemann, O., Xiao, M.S., Eirich, K., Koelsch, U., Hauptmann, K., John, R., Schindler, D., Wahn, V., 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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