J.E. Welch

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.

Mouse allergy among asthmatic children from rural Appalachia.

BACKGROUND Mice are a common finding in the indoor environment of many homes. In a recent study, 18% of children with asthma from an inner-city environment were reported to be allergic to mouse allergen. OBJECTIVE To determine the frequency of skin test reactivity among asthmatic children in a rural environment. METHODS We consecutively evaluated 209 (82 female, 127 male) children between the ages of 5 months and 19 years with asthma for mouse allergy. A careful environmental history was obtained on all children. Children older than 3 years of age were skin tested to mouse allergen and other indoor/outdoor inhalant allergens. Children younger than 3 years were skin tested to mouse and indoor allergens. RESULTS Thirty-three percent of parents reported seeing mice in their homes. Overall, 25 of 209 (12%) children with asthma were skin test-positive for mouse. For children 3 years or younger, 6 of 52 were skin test-positive for mouse (12%). There was no correlation among socioeconomic status, skin test reactivity, and the presence of mice in the home. Children with multiple skin test reactions were more likely to be reactive to mouse (P < 0.01). Mice seen in the home did not correlate with positive mouse skin tests. CONCLUSIONS The frequency of skin test reactivity to mouse allergen in asthmatic children from rural areas appears slightly less than that in children from inner-city environments. However, a frequency of 12% suggests that skin testing for this allergen provides useful information for environmental control measures in the home.

Ten-year experience using a plastic, disposable curette for the diagnosis of primary ciliary dyskinesia

BACKGROUND Primary ciliary dyskinesia (PCD) results in impaired mucociliary clearance. Patients with this disorder develop chronic sinopulmonary disease with recurrent sinusitis, otitis media, nasal polyposis, pneumonia, and, ultimately, bronchiectasis. Other associated findings of dysfunctional ciliary activity include situs inversus, dextrocardia, and infertility. OBJECTIVE To describe our 10-year experience using a small, plastic, disposable curette to perform a screening procedure for cilia function and to collect samples for electron microscopy. METHODS In the past 10 years, we screened infants and children with severe chronic sinusitis and other chronic recurrent upper respiratory tract problems for PCD by using a plastic, disposable curette to collect tissue samples from the nasal mucosa. Samples were placed in sterile saline and examined under light microscopy for the presence of cilia. Failure to note ciliary movement prompted another examination 1 month later. If no functional cilia were noted at the follow-up examination, a specimen was obtained and sent for electron microscopy. RESULTS We identified 7 patients with PCD; 2 had situs inversus totalis. Average age at diagnosis was 3 years. The most common symptom at presentation was frequent upper respiratory tract infections with severe otitis media (7 patients) and sinusitis (5 patients). Recurrent pneumonia was present in 6 patients. Dynein arm deficiency was the most common electron microscopic diagnosis. CONCLUSIONS Evaluating children for PCD by using a plastic, disposable curette is a relatively simple procedure that could be used by allergists in practice. Primary ciliary dyskinesia occurs frequently enough that physicians should consider it as part of the differential diagnosis in evaluating children with recurrent, severe sinopulmonary infections.