Article
Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).
Orphanet journal of rare diseases - 21 Oct 2014
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
Abstract excerpt
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 exten...
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