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Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study.

Wong MT, Lambeck AJ, van der Burg M, la Bastide-van Gemert S, Hogendorf LA, van Ravenswaaij-Arts CM, Schölvinck EH - PLoS ONE (2015)

Bottom Line: 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.Based on our results, we recommend immunological evaluation of CHARGE patients with recurrent infections.

View Article: PubMed Central - PubMed

Affiliation: University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.

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.

No MeSH data available.


Related in: MedlinePlus

T-cell receptor excision circle (TREC) analysis.Numbers of TRECs in patients with CHARGE syndrome (n = 22) compared to healthy controls (n = 12). Error bars indicate means and standard deviations, *p = 0.005.
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pone.0142350.g002: T-cell receptor excision circle (TREC) analysis.Numbers of TRECs in patients with CHARGE syndrome (n = 22) compared to healthy controls (n = 12). Error bars indicate means and standard deviations, *p = 0.005.

Mentions: TREC analysis could be performed in 22 patients with CHARGE syndrome. The mean TRECs/μg DNA was 998 (SD 535), which is significantly lower than the TRECs in the healthy control group (Fig 2, mean 1688, SD 814, p = 0.005). To evaluate the effect of age on the amount of TRECs, a linear regression analyses was performed and showed no significant effect.


Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study.

Wong MT, Lambeck AJ, van der Burg M, la Bastide-van Gemert S, Hogendorf LA, van Ravenswaaij-Arts CM, Schölvinck EH - PLoS ONE (2015)

T-cell receptor excision circle (TREC) analysis.Numbers of TRECs in patients with CHARGE syndrome (n = 22) compared to healthy controls (n = 12). Error bars indicate means and standard deviations, *p = 0.005.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4636349&req=5

pone.0142350.g002: T-cell receptor excision circle (TREC) analysis.Numbers of TRECs in patients with CHARGE syndrome (n = 22) compared to healthy controls (n = 12). Error bars indicate means and standard deviations, *p = 0.005.
Mentions: TREC analysis could be performed in 22 patients with CHARGE syndrome. The mean TRECs/μg DNA was 998 (SD 535), which is significantly lower than the TRECs in the healthy control group (Fig 2, mean 1688, SD 814, p = 0.005). To evaluate the effect of age on the amount of TRECs, a linear regression analyses was performed and showed no significant effect.

Bottom Line: 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.Based on our results, we recommend immunological evaluation of CHARGE patients with recurrent infections.

View Article: PubMed Central - PubMed

Affiliation: University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.

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.

No MeSH data available.


Related in: MedlinePlus