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.