CHARGE syndrome: a review of the immunological aspects

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 describ...

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Published inEuropean journal of human genetics : EJHG Vol. 23; no. 11; pp. 1451 - 1459
Main Authors Wong, Monica T Y, Schölvinck, Elisabeth H, Lambeck, Annechien J A, van Ravenswaaij-Arts, Conny M A
Format Journal Article
LanguageEnglish
Published England Nature Publishing Group 01.11.2015
Subjects
CHARGE syndrome
CHARGE Syndrome - genetics
CHARGE Syndrome - immunology
CHARGE Syndrome - pathology
Clonal deletion
Congenital diseases
Defects
DiGeorge Syndrome - genetics
DiGeorge Syndrome - immunology
DiGeorge Syndrome - pathology
DNA Helicases - genetics
DNA Helicases - immunology
DNA-Binding Proteins - genetics
DNA-Binding Proteins - immunology
Embryogenesis
Female
Gene expression
Genetics
Haploinsufficiency
Haploinsufficiency - immunology
Humans
Immune system
Immunological aspects
Immunology
Laboratories
Mutation
Patients
Phenotypes
Pregnancy
Review
Signal Transduction - genetics
Signal Transduction - immunology
T-Lymphocytes - immunology
T-Lymphocytes - pathology
Netherlands
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Summary: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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ISSN:1018-4813
1476-5438
DOI:10.1038/ejhg.2015.7