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Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study
Monica T Y Wong1, Annechien J A Lambeck2, Mirjam van der Burg3
1University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.
Insights
CHARGE syndrome patients frequently experience infections, often due to immune system dysfunction. This study found decreased T-cell numbers and poor vaccine responses in 50% and 83% of children with CHARGE syndrome, respectively.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- CHARGE syndrome is a complex congenital malformation syndrome.
- Frequent infections in CHARGE syndrome are often attributed to anatomical issues, but immune dysfunction is understudied.
- Clinical overlap exists between CHARGE syndrome and 22q11.2 deletion syndrome, where immune deficiencies are known.
Purpose of the Study:
- To investigate the frequency and nature of immune dysfunction in children with genetically confirmed CHARGE syndrome.
- To assess the contribution of immunological abnormalities to recurrent infections in CHARGE syndrome patients.
Main Methods:
- Studied 24 children with genetically proven CHARGE syndrome.
- Collected infectious history via questionnaires.
- Performed comprehensive immunological assessments including blood counts, immunoglobulin levels, lymphocyte subpopulations, T-cell analysis (TREC), T-cell function, and vaccination responses.
Main Results:
- All CHARGE syndrome patients reported a history of frequent infections (otitis media, pneumonia), necessitating antibiotics and hospitalizations.
- 50% of patients had decreased T-cell numbers, linked to diminished T-receptor excision circle (TREC) amounts, suggesting insufficient thymic output.
- 83% of patients exhibited insufficient antibody titers to standard childhood vaccinations, despite normal B-cell differentiation and immunoglobulin production.
Conclusions:
- CHARGE syndrome is associated with significant immune system abnormalities, including T-cell deficiencies and impaired vaccine responses.
- Immunological evaluation is recommended for CHARGE syndrome patients experiencing recurrent infections.
- These findings highlight the importance of considering immune dysfunction in the management of CHARGE syndrome.
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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