ArticlePloS one2015
Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 39 citations in OpenAlex.
- Unraveling the layers of epigenetic control in respiratory antiviral defense.Journal of virology · 2026Review
- CHD7 regulates definitive endodermal and mesodermal development from human embryonic stem cells.Stem cell research & therapy · 2025Article
- Article
- Topoisomerase 1 is required for the development and function of thymus.Journal of immunology (Baltimore, Md. : 1950) · 2025Article
- In Vivo CRISPR Screening Reveals CHD7 as a Positive Regulator of Short-lived Effector Cells.Journal of immunology (Baltimore, Md. : 1950) · 2024Article
- Uncommon Association of Aortopulmonary Window in a Patient with Complex Univentricular Heart and CHARGE Syndrome.Kansas journal of medicine · 2021Article
- Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- Molecular Insights Into the Causes of Human Thymic Hypoplasia With Animal Models.Frontiers in immunology · 2020Review
- T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features.Frontiers in immunology · 2020Review
- Interferon-β corrects massive gene dysregulation in multiple sclerosis: Short-term and long-term effects on immune regulation and neuroprotection.EBioMedicine · 2019Article
- Epigenetic Priming in Immunodeficiencies.Frontiers in cell and developmental biology · 2019Review
- Atopic disorders in CHARGE syndrome: A retrospective study and literature review.European journal of medical genetics · 2018Review
- Guidelines in CHARGE syndrome and the missing link: Cranial imaging.American journal of medical genetics. Part C, Seminars in medical genetics · 2017Review
- CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.American journal of human genetics · 2017Article
- Primary/Congenital Immunodeficiency: 2015 SH/EAHP Workshop Report-Part 5.American journal of clinical pathology · 2017Article
- High immunoglobulin E level is associated with increased readmission in children with bronchopneumonia.Therapeutic advances in respiratory diseaseArticle
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
CHARGE syndrome is a variable, multiple congenital malformation syndrome. Patients with CHARGE syndrome have frequent infections that are presumed to be due to anatomical anomalies of the craniofacial region and upper airway, and cranial nerve problems resulting in swallowing difficulties and aspiration. The possible contribution of immunological abnormalities to these infections has not been systematically studied even though immune deficiencies have been described in patients with 22q11.2 deletion syndrome, a condition which shares remarkable clinical overlap with CHARGE syndrome. We assessed the frequency and nature of immune dysfunction in 24 children with genetically proven CHARGE syndrome. All patients, or their parents, completed a questionnaire on infectious history. Their immune system was extensively assessed through full blood counts, immunoglobulin levels, lymphocyte subpopulations, peripheral B- and T-cell differentiation, T-receptor excision circle (TREC) analysis, T-cell function, and vaccination responses. All CHARGE patients had a history of infections (often frequent), mainly otitis media and pneumonia, leading to frequent use of antibiotics and to hospital admissions. Decreased T-cell numbers were found in 12 (50%) patients, presumably caused by insufficient thymic output since TREC amounts were also diminished in CHARGE patients. Despite normal peripheral B-cell differentiation and immunoglobulin production in all patients, 83% of patients had insufficient antibody titers to one or more early childhood vaccinations. Based on our results, we recommend immunological evaluation of CHARGE patients with recurrent infections.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.