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CHARGE syndrome: a review of the immunological aspects.

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.

SUBMITTER: Wong MT

PROVIDER: S-EPMC4613462 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature

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CHARGE syndrome: a review of the immunological aspects.

Wong Monica T Y MT Schölvinck Elisabeth H EH Lambeck Annechien J A AJ van Ravenswaaij-Arts Conny M A CM

European journal of human genetics : EJHG 20150218 11

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 ...[more]

PMID: 25689927

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