Publication

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

Wong, M. T. Y., Lambeck, A. J. A., van der Burg, M., la Bastide-van Gemert, S., Hogendorf, L. A., van Ravenswaaij-Arts, C. M. A. & Scholvinck, E. H., 6-Nov-2015, In : PLoS ONE. 10, 11, 16 p., e0142350.

Research output: Contribution to journalArticleAcademicpeer-review

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.

Original languageEnglish
Article numbere0142350
Number of pages16
JournalPLoS ONE
Volume10
Issue number11
Publication statusPublished - 6-Nov-2015

    Keywords

  • 22Q11.2 DELETION SYNDROME, CONJUGATE-VACCINE, PRIMARY IMMUNODEFICIENCY, MULTIPLEX IMMUNOASSAY, PHENOTYPIC SPECTRUM, NON-IMMUNOLOGISTS, CHD7 GENE, DIPHTHERIA, IMMUNIZATION, UPDATE

Download statistics

No data available

ID: 25734165