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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230835/
https://www.ncbi.nlm.nih.gov/pubmed/25330735
http://dx.doi.org/10.1186/s13023-014-0116-6

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