title: 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.
authors.affiliation: University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.
authors.forename: Monica T Y
authors.initials: MT
authors.lastname: Wong
authors.affiliation: University of Groningen, University Medical Centre Groningen, Department of Paediatrics, Section Infectious Diseases and Immunology, Groningen, The Netherlands.
authors.forename: Elisabeth H
authors.initials: EH
authors.lastname: Schölvinck
authors.affiliation: University of Groningen, University Medical Centre Groningen, Department of Medical Immunology, Groningen, The Netherlands.
authors.forename: Annechien J A
authors.initials: AJ
authors.lastname: Lambeck
authors.affiliation: University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.
authors.forename: Conny M A
authors.initials: CM
authors.lastname: van Ravenswaaij-Arts
mesh_terms: D058747:CHARGE Syndrome / Q000235:genetics / Q000276:immunology* / Q000473:pathology; D004265:DNA Helicases / Q000235:genetics* / Q000276:immunology; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000276:immunology; D004062:DiGeorge Syndrome / Q000235:genetics / Q000276:immunology* / Q000473:pathology; D005260:Female; D057895:Haploinsufficiency / Q000276:immunology; D006801:Humans; D011247:Pregnancy; D015398:Signal Transduction / Q000235:genetics / Q000276:immunology; D013601:T-Lymphocytes / Q000276:immunology* / Q000473:pathology
chemical_list: D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human