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Publication - Dr Borko Amulic

    Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)

    Citation

    von Bernuth, H, Ravindran, E, Du, H, Fröhler, S, Strehl, K, Krämer, N, Issa-Jahns, L, Amulic, B, Ninnemann, O, Xiao, M-S, Eirich, K, Kölsch, U, Hauptmann, K, John, R, Schindler, D, Wahn, V, Chen, W & Kaindl, AM, 2014, ‘Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)’. Orphanet Journal of Rare Diseases, vol 9., pp. 116

    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.

    Full details in the University publications repository