Triagem neonatal para imunodeficiência combinada grave / Newborn screening for severe combined immunodeficiency

As imunodeficiências primárias (IDP) são uma área recente e aindapouco conhecida da medicina. Pacientes com IDP apresentam, na maior parte dos casos, infecções graves e recorrentes de início precoce, elevada morbidade e mortalidade, resultando frequentemente em sequelas,elevado custo social e sofrimento dos familiares. Embora na Américado Norte e Europa se estime que sua incidência seja semelhante à dafenilcetonúria e do hipotireoidismo congênito (afecções congênitas quecontam com triagem neonatal), ainda faltam dados quanto à sua real incidência na população brasileira.O projeto em desenvolvimento no Instituto de Ciências Biomédicasda USP e Escola Paulista de Medicina da UNIFESP, visa contribuir para o avanço na implementação de testes de triagem neonatal para asimunodeficiências primárias, mais especificamente, ImunodeficiênciasCombinadas Graves, que constituem um grupo de doenças com diferentesdefeitos genéticos, que evoluem para o óbito precoce se não foremdiagnosticadas e tratadas a tempo e a Síndrome de DiGeorge, que seestima ser a síndrome genética de deleção mais prevalente (1:3.000nascidos vivos).Seguindo esta linha de pensamento, nossa hipótese é que no Brasilexiste um número desconhecido de pacientes com IDP não diagnosticadosou subdiagnosticados que após a implementação de técnicas de detecção molecular por triagem neonatal para a SCID e síndrome de DiGeorge, passarão a ser contabilizados e tratados corretamente, diminuindo portanto,a morbidade e mortalidade.

Primary immunodeficiency disorders (PIDD) are a recently-recognizedand relatively unstudied area of medicine. Patients with PIDD frequentlypresent with the early onset of severe recurrent infections, high morbidityand mortality, frequently resulting in sequelae, high social cost, andfamily burden. While in North America and Europe it is estimated thatits incidence is similar to phenylketonuria and congenital hypothyroidism(congenital disorders that rely on neonatal screening), there is a lack ofdata on its actual incidence in Brazil.The project being developed at Institute of Biomedical Sciences,University of São Paulo and Federal University of São Paulo MedicalSchool, aims to contribute to the implementation of neonatal screeningtests for primary immunodeficiencies. More specifically, severe combinedimmunodeficiencies, a group of diseases with several genetic defects,may progress to early death if not diagnosed and treated early in life;and DiGeorge Syndrome, which is estimated to be the most prevalentgenetic deletion syndrome (1:3,000).Our hypothesis is that, in Brazil there is an unknown number ofpatients with undiagnosed or underdiagnosed disease, which, after theimplementation of detection techniques through newborn screening forSCID and DiGeorge Syndrome, will be accounted for and treated properly,reducing therefore, the morbidity and mortality.

Diphtheria, tetanus, and varicella immunity in health care workers in neonatal units.

BACKGROUND: Susceptible health care workers are at risk of acquiring and transmitting vaccine-preventable diseases to or from patients. The objective of this study was to assess antibody levels against diphtheria, tetanus, and varicella in healthcare workers. METHODS: Antibody levels against diphtheria, tetanus, and varicella were measured in health care professionals in 2 neonatal units at the Federal University of São Paulo, Brazil. RESULTS: Between September and November 2002, 215 of 222 (96.8%) health care workers were studied. Of those, 122 (56.7%) gave oral information regarding their vaccination status against diphtheria and tetanus and only 9 (4.2%) had their vaccination cards. Geometric mean antibody levels against diphtheria, tetanus, and varicella were 0.89 IU/mL (95%CI, 0.73 to 1.08), 0.86 IU/mL (95%CI, 0.68 to 1.07) and 1.10 IU/mL (95%CI, 0.98 to 1.24), respectively. Using internationally accepted definitions, 200 (93.0%) and 182 (84.7%) individuals had full protection against diphtheria and tetanus, respectively. Regarding varicella, 213 (99.1%) individuals were immune and 2 (0.9%) had equivocal immunity against varicella. Of 65 (30.2%) individuals without previous history of the illness, 63 (96.9%) were immune against varicella zoster virus. CONCLUSIONS: Based on serologic screening, most professionals were immune to diphtheria, tetanus, and varicella. Absence of previous history of varicella was an unreliable identifier of susceptibility to varicella zoster virus in the health care workers studied.