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