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Severe combined immunodeficiency, SCID, is a pediatric emergency that represents the most critical group of inborn errors of immunity (IEI). Affected infants present with early onset life-threatening infections due to absent or non-functional T cells. Without early diagnosis and curative treatment, most die in early infancy. As most affected infants appear healthy at birth, newborn screening (NBS) is essential to identify and treat patients before the onset of symptoms. Here, we report 47 Brazilian patients investigated between 2009 and 2020 for SCID due to either a positive family history and/or clinical impression and low TRECs. Based on clinical presentation, laboratory finding, and genetic information, 24 patients were diagnosed as typical SCID, 14 as leaky SCID, and 6 as Omenn syndrome; 2 patients had non-SCID IEI, and 1 remained undefined. Disease onset median age was 2 months, but at the time of diagnosis and treatment, median ages were 6.5 and 11.5 months, respectively, revealing considerable delay which affected negatively treatment success. While overall survival was 51.1%, only 66.7% (30/45) lived long enough to undergo hematopoietic stem-cell transplantation, which was successful in 70% of cases. Forty-three of 47 (91.5%) patients underwent genetic testing, with a 65.1% success rate. Even though our patients did not come from the NBS programs, the diagnosis of SCID improved in Brazil during the pilot programs, likely due to improved medical education. However, we estimate that at least 80% of SCID cases are still missed. NBS-SCID started to be universally implemented in the city of São Paulo in May 2021, and it is our hope that other cities will follow, leading to early diagnosis and higher survival of SCID patients in Brazil.

Introdução: A alergia alimentar ocorre em 6% das crianças. Na literatura há descrição de pacientes com sensibilidade ao glúten e alergia ao trigo. No entanto, existe a possibilidade do paciente apresentar alergia ao glúten, com sensibilização mediada por IgE com presença de sintomas cutâneos, gastrointestinais e/ou respiratórios. Objetivo: O intuito do estudo foi avaliar a presença de sensibilidade ao glúten mediada por IgE e sintomas de alergia em pacientes atendidos no ambulatório de alergia alimentar da Policlínica Municipal de Taubaté. Métodos: Foram analisados os dados de 87 prontuários de pacientes atendidos entre 2013 a 2017 do ambulatório. Todos esses pacientes apresentavam sensibilidade positiva em exames séricos de IgE específico ao glúten. Os dados avaliados foram: sexo, faixa etária, sintomatologia cutânea, gastrointestinal e respiratória relacionados à ingestão desse alimento. Resultados: A porcentagem de pacientes com alergia alimentar ao glúten foi predominante no sexo feminino (58,62%). Quanto à distribuição etária, a idade mais prevalente foi entre 5 a 8 anos (40,23%), seguido de 9 a 12 anos (33%), entre 1 a 4 anos (17,24%), e entre 13 a 16 anos (9,2 %). Apresentaram como sintomas cutâneos: dermatite atópica (50,57%), angioedema (18,39%) e urticária foi referido em (17,24%) dos casos. Considerando os sintomas respiratórios na alergia ao glúten, relataram rinite (63,22%) dos pacientes, seguido de infecções de repetição (12,64%), tosse (3,45%) e asma/chiado no peito (1,15%). No que diz respeito aos sintomas gastrointestinais na alergia ao glúten, identificou-se a diarreia foi mais predominante (21,14%) dos casos, seguido por constipação (11,49%), dor abdominal recorrente (8,05%), dermatite perianal (6,91%), sangramento nas fezes (5,95%), vômitos (4,6%) e refluxo (3,45%). Entre os pacientes alérgicos ao glúten também eram sensibilizados (IgE positivos) ao trigo (94,25% dos casos) à proteína do leite de vaca (56,47%), à clara de ovo (54,87%), à soja (45,67%), amendoim (40,69%), ao milho (40,29%) e à gema de ovo (33,33%). Conclusão: Sendo assim, apesar de existirem poucas pesquisas relacionadas ao perfil de pacientes com sensibilidade ao glúten essa proteína deve ser considerada importante na faixa etária pediátrica.

We would like to report our experience in the deployment of an Immunology outpatient clinic that over 14 years became a Reference Center for Inborn Errors of Immunity (IEI) in Brazil, which is located in the city of Taubaté, in the region of Vale do Paraíba, state of São Paulo, responsible for serving a region of approximately 2.5 million inhabitants. During this period, we participated in the pilot project to implement neonatal screening for severe combined immunodeficiency and initiated courses for physicians from basic health units, implementation of classes on clinical immunology in the undergraduate program of medicine, implementation of an outpatient clinic at the city's Faculty of Medicine, in addition to the assessment of patients hospitalized in emergency and intensive care units. Thus, the implementation of a Reference Center for IEI in Latin America proved to be viable and can serve as a model for other services to be initiated. Based on our experience, we suggest some itens for additional IEI centers to emerge.