von Bernuth Horst, Ravindran Ethiraj, Du Hang, Fröhler Sebastian, Strehl Karoline, Krämer Nadine, Issa-Jahns Lina, Amulic Borko, Ninnemann Olaf, Xiao Mei-Sheng, Eirich Katharina, Kölsch Uwe, Hauptmann Kathrin, John Rainer, Schindler Detlev, Wahn Volker, Chen Wei, Kaindl Angela M
Pediatric Pneumology and Immunology, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany.
Labor Berlin Charité Vivantes GmbH, Department of Immunology, Berlin, Germany.
Orphanet J Rare Dis. 2014 Oct 21;9:116. doi: 10.1186/s13023-014-0116-6.
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.
常染色体隐性免疫缺陷-着丝粒不稳定-面部异常综合征（ICF）的特征为免疫缺陷、发育迟缓及面部异常。由双等位基因ZBTB24基因突变引起的ICF2主要被认为是一种孤立的B细胞缺陷。在此，我们通过特别描述首次扩展了其表型谱，即在整个病程中出现联合免疫缺陷以及诸如肉芽肿性肝炎和肾炎等假定的自身免疫现象。我们还证明了免疫细胞和非免疫细胞的细胞增殖受损及细胞死亡增加，以及除已知的染色体凝聚缺陷外还提示存在染色体分离缺陷的数据。
