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- DNA methyltransferase gene (1)
- DNMT3B (1)
- ICF2 (1)
- TYPE-2 (1)
- ZBTB24 (1)
- ZBTB24 mutations (1)
- centromeric instability (1)
- facial anomalies (1)
- granulomas (1)
- immunodeficiency (1)
Institut
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.