Refine
Is part of the Bibliography
- yes (11)
Document Type
- Journal article (11) (remove)
Language
- English (11) (remove)
Keywords
- lymphoma (11) (remove)
Institute
- Pathologisches Institut (6)
- Klinik und Poliklinik für Nuklearmedizin (4)
- Medizinische Klinik und Poliklinik II (2)
- Comprehensive Cancer Center Mainfranken (1)
- Institut für Humangenetik (1)
- Institut für diagnostische und interventionelle Neuroradiologie (ehem. Abteilung für Neuroradiologie) (1)
- Klinik und Poliklinik für Dermatologie, Venerologie und Allergologie (1)
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.