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Author Archives: Wong MT, Schölvinck EH, Lambeck AJ, van Ravenswaaij-Arts CM
CHARGE syndrome: a review of the immunological aspects.
Eur J Hum Genet. 2015 Feb 18;
Authors: Wong MT, Schölvinck EH, Lambeck AJ, van Ravenswaaij-Arts CM
CHARGE syndrome is caused by a dominant variant in the CHD7 gene. Multiple organ systems can be affected because of haploinsufficiency of CHD7 during embryonic development. CHARGE syndrome shares many clinical features with the 22q11.2 deletion syndrome. Immunological abnormalities have been described, but are generally given little attention in studies on CHARGE syndrome. However, structured information on immunological abnormalities in CHARGE patients is necessary to develop optimal guidelines for diagnosis, treatment and follow-up in these patients. Here, we provide an overview of the current literature on immunological abnormalities in CHARGE syndrome. We also explore immunological abnormalities in comparable multiple congenital anomaly syndromes to identify common immunological phenotypes and genetic pathways that might regulate the immune system. Finally, we aim to identify gaps in our knowledge on the immunological aspects in CHARGE syndrome that need further study.European Journal of Human Genetics advance online publication, 18 February 2015; doi:10.1038/ejhg.2015.7.
PMID: 25689927 [PubMed – as supplied by publisher]