Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)
Please always quote using this URN: urn:nbn:de:bvb:20-opus-114859
- 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 alsoThe 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.…
Author: | Horst von Bernuth, Ethiraj Ravindran, Hang Du, Sebastian Froehler, Karoline Strehl, Nadine Kraemer, Lina Issa-Jahns, Borko Amulic, Olaf Ninnemann, Mei-Sheng Xiao, Katharina Eirich, Uwe Koelsch, Kathrin Hauptmann, Rainer John, Detlev Schindler, Volker Wahn, Wei Chen, Angela M. Kaindl |
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URN: | urn:nbn:de:bvb:20-opus-114859 |
Document Type: | Journal article |
Faculties: | Medizinische Fakultät / Institut für Humangenetik |
Language: | English |
Parent Title (English): | Orphanet Journal of Rare Dieeases |
Year of Completion: | 2014 |
Volume: | 9 |
Pagenumber: | 116 |
Source: | Orphanet Journal of Rare Diseases 2014, 9:116. DOI; http://www.ojrd.com/content/9/1/116 |
DOI: | https://doi.org/10.1186/s13023-014-0116-6 |
Dewey Decimal Classification: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Tag: | DNA methyltransferase gene; DNMT3B; ICF2; TYPE-2; ZBTB24; ZBTB24 mutations; centromeric instability; facial anomalies; granulomas; immunodeficiency; intellectual disability; lymphoma; microcephaly |
Release Date: | 2015/07/10 |
Licence (German): | CC BY: Creative-Commons-Lizenz: Namensnennung |