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

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 t...

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Main Authors: 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
Format: Online
Language:English
Published: BioMed Central 2014
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230835/