Prevalence of atopic disorders and immunodeficiency in patients with ectodermal dysplasia syndromes.

BACKGROUND: Ectodermal dysplasia (ED) syndromes are a diverse group of disorders that affect multiple ectodermally derived tissues. Small studies and case reports suggest an increase in atopy and primary immunodeficiencies (PIDs) among patients with ED syndromes. OBJECTIVE: To determine the prevalence of clinical symptoms suggestive of atopy or immunodeficiency among a large cohort of children with ED syndromes. METHODS: A 9-page questionnaire was mailed to families who were members of the National Foundation for Ectodermal Dysplasias. The surveys were completed by parents of children younger than 18 years with a diagnosis of an ED syndrome or carrier state. Portions of the questionnaire were adapted from previously validated questionnaires developed by the International Study of Asthma and Allergies in Childhood (ISAAC). RESULTS: We received 347 completed questionnaires (41%). When compared with the 13- to 14-year-old children surveyed by ISAAC, we found both all-aged and age-matched children with ED syndromes, respectively, had significantly higher rates of asthma (32.2% and 37.2% vs 16.4%), rhinitis symptoms (76.1% and 78.3% vs 38.9%), and eczema (58.9% and 48.9% vs 8.2%). The prevalence of physician-diagnosed food allergies (20.7%) and PIDs (6.1%) in these ED patients also exceeded known rates in the general pediatric population. CONCLUSION: This large-scale, retrospective study demonstrates a greater reported prevalence of symptoms suggestive of atopic disorders and PIDs among children with ED syndromes than the general pediatric population. A combination of genetic and environmental factors in ED syndromes may contribute to breaches of skin and mucosal barriers, permitting enhanced transmission and sensitization to irritants, allergens, and pathogens.

Hypersensitivity pneumonitis secondary to residential exposure to Aureobasidium pullulans in 2 siblings.

BACKGROUND: Hypersensitivity pneumonitis (HP) is an immune-mediated hypersensitivity reaction to a variety of inhaled particles that may lead to acute, subacute, or chronic interstitial pneumonitis and possibly end-stage lung disease. Avian antigens most commonly cause HP in children, but fungi have also been implicated. OBJECTIVE: To describe a 15-year-old girl and her 6-year-old brother who developed HP from residential exposure to Aureobasidium pullulans. METHODS: Allergy skin testing, serum precipitating antibodies, pulmonary function testing, chest radiography, chest computed tomography, bronchoalveolar lavage, and a home survey for possible causative antigens were performed. RESULTS: Both patients lived on a horse farm and had fatigue, weight loss, cough, and dyspnea. The siblings had restrictive patterns on pulmonary function tests, with decreased diffusion capacity of carbon monoxide, ground-glass opacities on high-resolution chest computed tomography, and serum precipitins to A pullulans. Bronchoalveolar lavage in the girl demonstrated lymphocytosis, with a preponderance of CD8+ T cells and natural killer cells. Symptoms improved after the children vacated the home and recurred on repeated exposure in both patients. Home evaluation revealed extensive mold contamination, with A pullulans counts of 659, 329, and 71 CFU/m3 in the boy's bedroom, the girl's bedroom, and outdoors, respectively. CONCLUSIONS: The diagnosis of HP in these siblings is supported by the clinical history, the diagnostic findings, and the recurrence of symptoms on repeated exposure. These cases represent the second report of HP resulting from nonoccupational exposure to A pullulans in North America and the first report in children.

Rice-induced enterocolitis in an infant: TH1/TH2 cellular hypersensitivity and absent IgE reactivity.

BACKGROUND: Although food allergy is common in children, rice allergy is unusual in Western cultures. OBJECTIVE: To report a case of T-cell-mediated rice intolerance in an 11-month-old girl. METHODS: To evaluate the intolerance to rice in this patient, a graded rice food challenge was performed. To examine the immunologic reactivity to rice, in vitro lymphoproliferative responses and cytokine synthesis of rice-stimulated peripheral blood lymphocytes (PBLs) was performed. Subsequently, skin patch testing to rice and other foods was performed. RESULTS: Allergy skin prick test results were negative for rice and positive for egg, milk, and soy. Specific IgE antibodies to rice, egg, peanut, wheat, walnut, codfish, milk, soybean, corn, shrimp, scallops, and clams were undetectable. Results of a single-blind rice food challenge were positive, manifested by emesis that persisted for more than an hour and required intravenous hydration. In vitro lymphoproliferation by the patient's PBLs to rice stimulation was positive. In addition, cytokine synthesis of interferon-gamma, interleukin 10 (IL-10), tumor necrosis factor a, and IL-5 by the patient's rice-stimulated PBLs was elevated, indicating a TH1/TH2 cell response to rice. Endoscopy revealed normal esophageal, gastric, and duodenal mucosa; a biopsy specimen revealed mild esophagitis. Duodenal explant T cells were initially established by stimulation with rice and IL-2. After a 2-day rest, the lymphocytes were restimulated with rice for 7 days and revealed increased interferon-gamma and IL-5 synthesis. Twenty billion colony forming units of Lactobacillus GG were added to the patient's diet twice daily. After 6 weeks, rice rechallenge resulted in emesis within 1 hour. Results of patch testing were positive to rice, wheat, and barley but negative to soy, which the patient tolerated on food challenge. CONCLUSIONS: Although this patient did not demonstrate IgE antibody to rice, TH1/TH2 cell-mediated responses to rice were detected, and the patient experienced significant morbidity. Patch testing for gastrointestinal food allergies may be useful when the food specific IgE antibody is negative. Probiotic therapy in this patient did not ameliorate her sensitivity to rice, and food elimination remains the only reliable treatment for TH1/TH2-mediated food hypersensitivity.