Spectrum of illness in pediatric common variable immunodeficiency

Background: Common variable immunodeficiency (CVID) may present at any age but usually presents during adulthood. Objective: To study the presentation and associated medical conditions found in pediatric patients with CVID. Methods: A medical record review of patients diagnosed as having CVID before the age of 18 years was performed at a tertiary care immunology clinic from 1992 to 2005. Inclusion criteria consisted of presentation with recurrent infections and decrease in 2 of 3 immunoglobulin isotypes (IgG, IgA, IgM) 2 SDs below the age-specific range, with a poor or absent response to immunization. There had to be no other identifiable predisposing cause of the immunodeficiency. Results: A total of 12 patients were identified. The mean age at presentation was 8 years. All patients had low IgG levels with poor functional antibody responses. The most common presenting infections were sinusitis (75%), otitis media (67%), and pneumonia (58%). Bronchiectasis was seen in 3 children. One patient presented with chronic diarrhea due to Giardia. Two patients presented with failure to thrive. Asthma was seen in 10 patients (83%) but was usually diagnosed after the initial presentation. Autoimmune disorders were seen, including 1 patient with idiopathic thrombocytopenia and 2 with neutropenia. Other disorders encountered were growth hormone deficiency, hypothyroidism, end-stage renal disease, and sarcoma. Conclusions: CVID is a difficult diagnosis in the pediatric population because of an unpredictable presentation. Autoimmune disease, growth hormone deficiency, renal disease, and cancer were noted in our population. A high incidence of asthma also may be associated with pediatric CVID.