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Review
. 2015 Nov;23(11):1451-9.
doi: 10.1038/ejhg.2015.7. Epub 2015 Feb 18.

CHARGE syndrome: a review of the immunological aspects

Monica T Y Wong  1 , Elisabeth H Schölvinck  2 , Annechien J A Lambeck  3 , Conny M A van Ravenswaaij-Arts  1
Affiliations
Review

CHARGE syndrome: a review of the immunological aspects

Monica T Y Wong et al. Eur J Hum Genet. 2015 Nov.

Abstract

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.

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Figures

Figure 1
Figure 1
Clinical overlap of CHARGE syndrome with other MCA syndromes. The overlapping clinical features of CHARGE syndrome with other MCA syndromes are shown. All the genes mentioned, or their proteins, have been associated with CHD7. Adapted from Corsten-Janssen et al.
See this image and copyright information in PMC

References

    1. 1Angelman H: Syndrome of coloboma with multiple congenital abnormalities in infancy. Br Med J 1961; 1: 1212–1214. - PMC - PubMed
    1. 2Edwards JH, Finlay HVL, Young RB: Coloboma with Multiple Congenital Anomalies. Br Med J 1961; 2: 586–587.
    1. 3Hall BD: Choanal atresia and associated multiple anomalies. J Pediatr 1979; 95: 395–398. - PubMed
    1. 4Hittner HM, Hirsch NJ, Kreh GM, Rudolph AJ: Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation—a syndrome. J Pediatr Ophthalmol Strabismus 1979; 16: 122–128. - PubMed
    1. 5Pagon RA, Graham JM Jr, Zonana J, Yong SL: Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 1981; 99: 223–227. - PubMed

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