Primary immunodeficiency diseases in different age groups: a report on 1,008 cases from a single Brazilian reference center.

Primary immunodeficiencies (PIDs) represent a large group of diseases that affect all age groups. Although PIDs have been recognized as rare diseases, there is epidemiological evidence suggesting that their real prevalence has been underestimated. We performed an evaluation of a series of 1,008 infants, children, adolescents and adults with well-defined PIDs from a single Brazilian center, regarding age at diagnosis, gender and PID category according to the International Union of Immunological Societies classification. Antibody deficiencies were the most common category in the whole series (61 %) for all age groups, with the exception of <2-year-old patients (only 15 %). In the >30-year-old group, antibody deficiencies comprised 84 % of the diagnoses, mostly consisting of common variable immunodeficiency, IgA deficiency and IgM deficiency. Combined immunodeficiencies represented the most frequent category in <2-years-old patients. Most congenital defects of phagocytes were identified in patients <5 -years of age, as were the diseases of immune dysregulation, with the exception of APECED. DiGeorge syndrome and ataxia-telangiectasia were the most frequent entities in the category of well-defined syndromes, which were mostly identified in patients <10-years of age. Males represented three-quarters and two-thirds of <2 -years-old and 2-5-years -old patients, respectively, whereas females predominated among the >30-year-old patients. Our data indicated that some PIDs were only detected at early ages, likely because affected patients do not survive long. In addition, our data pointed out that different strategies should be used to search for PIDs in infants and young children as compared to older patients.

Polimorfismo de interleucina 10 e persistência da alergia ao leite de vaca / Interleukin 10 polymorphism and cow's milk allergy persistence

Justificativa: Alergia à leite de vaca (ALV) afeta 2,5% das crianças menores de 3 anos, sendo que a maioria dos pacientes desenvolvem tolerância até 3 anos de idade. No entanto, na ALV IgE-mediada cerca de 35% desses pacientes persistem sintomáticos. O objetivo deste estudo foi determinar se polimorfismos no gene que codifica a IL-lO estariam associados à ALV persistente mediada por IgE em crianças brasileiras com cinco anos. Métodos: Neste estudo, 50 pacientes com ALV com idade de 5 anos foram avaliados, sendo 36 persistentes e 14 tolerantes. Um grupo controle composto por 224 indivíduos saudáveis foi incluído no estudo. Os critérios de diagnóstico foram: anafilaxia desencadeada pelo leite de vaca (LV) ou reação clínica imediata para o Teste Duplo Cego Placebo Controlado (DCPC). A tolerância foi definida como a ausência de resposta clínica ao DBPC ou durante a exposição acidental ao LV. Os dados utilizados na análise dos resultados clínicos e laboratoriais foram aqueles na época do diagnóstico. Todos os pacientes e os controles foram avaliados pelo PCR-RFLP para os seguintes polimorfismos de IL-lO: -3575A/T, -2849A/G, -763A/C, 592C/A e pelo PCR-SSP para o polimorfismo IL-lO -1082G/A. Resultados: Houve diferença estatisticamente significante apenas para o polimorfismo IL-l0 -1082G/A, sendo a homozigose para o alelo A estatisticamente significante comparando-se pacientes do grupo ALV total versus grupo controles (p = 0,027) e a homozigose para o alelo G entre grupo persistente versus grupo controle (p = 0,001). Conclusão: Nos pacientes avaliados, o polimorfismo de IL-lO 1082G/A foi associado ao fenótipo da ALV persistente.

Rationale: Cow's milk allergy (CMA) affects 2.5% of children under 3 years and the majority of patients develop tolerance at age 3. However, in IgE-mediate CMA about 35% of them persist symptomatic. The aim of this study is to determine if interleukin 10 (IL-l0) gene polymorphisms are associated to persistent IgE-mediated CMA in Brazilian children at age five. Methods: In this study, 50 IgE-mediated CMA patients were evaluated at age 5, being 36 persistent and 14 tolerant to cow's milk (CM). A control group with 224 healthy individuals was included. The diagnosis criteria were: anaphylaxis triggered by CM or immediate clinical reaction to double blind placebo control test (DBPCT). The tolerance was defined as the absence of clinical response to the DBPCT or during the accidental exposure to CM. The data used about clinical and laboratorial findings were from the diagnosis work up. All patients and the controls were typed by PCR-RFLP for the following IL-l0 polymorphisms: -3575A/T, -2849A/G, -763A/C, -592C/A and by SSP for -1082G/A. Results: There was differences statistically significant only for IL-lO polymorphisms -1082G/A. Homozygosis to A allele was statistically significant comparing CMA total patients with controls (p = 0.027) and homozygosis to G allele between persistent group versus control group (p = 0.001). Conclusion: In these patients evaluated the IL-lO -1082G/A polymorphism was associated to CMA persistent phenotype.