Early diagnosis of primary immunodeficiencies associated with B/T lymphopenia

Abstract

Primary immunodeficiencies are a group of more than 200 different diseases associated with genetic disorders that affect the development and/or function of the immune system. Many of them can cause death during the first year of life if not treated in time, however, a timely therapy allows patients to survive to adulthood. For this to occur, early diagnosis of immunodeficiency based on a genetic study is fundamental. Our main objective is to identify individuais with a primary immunodeficiency associated with Iymphopenia BIT in a population of 5000 newborns (neonatal screening) of the ninth region of Chile using a real-time qPCR technology designed to quantify TRECs and KRECs. The results will allow us to establish benchmarks for the Chilean population and, more important, early diagnosis will allow early treatment to patients, which will result, we think, in a decrease in mortality from such diseases. (AU)