Congenital anomalies of the immune system: newborn screening, early intervention, genetic counseling and epidemiological study

Abstract

Primary immunodeficiency disorders (PIDD) are congenital disorders leading to high susceptibility to severe and recurrent infections with early onset, high morbidity and mortality, and elevated social and economic cost for the health systems. This project aims the implementation of newborn screening tests and early diagnosis of primary immunodeficiencies, specifically T cell lymphopenias like Di George syndrome (DGS), estimated to be the most common genetic deletion syndrome (1:3000 live births) and Severe Combined Immunodeficiency (SCID), a group of diseases with diverse genetic causes, with a fatal outcome up to 2 years of life unless diagnosed and properly treated. The methodology, TRECs measuring using real time PCR, already available in our laboratory is the gold standard method, has proved successful and is under current use in 7 states in the USA, Japan and some European countries, with promising results. International Registries of Primary Immunodeficiencies indicate that a high number of undiagnosed patients will be accounted , and treated correctly after implementation of molecular detection techniques by means of the newborn screening for PID, reducing morbidity and mortality. Moreover, their families will be supported and will receive genetic counseling. Ali this will be possible in the public health system, once our project will be developed in an SUS (Sistema Único de Saúde) accredited service. (AU)