Early diagnosis of primary immunodeficiencies associated with B/T lymphopenia

• Grant number: 14/50291-4
• Support Opportunities: Regular Research Grants
• Start date: February 01, 2015
• End date: January 31, 2017
• Field of knowledge: Health Sciences - Medicine - Maternal and Child Health
• Agreement: Universidad de la Frontera
• Principal Investigator: Antonio Condino Neto
• Grantee: Antonio Condino Neto
• Principal researcher abroad: Jaime Inostroza Sarmiento
• Institution abroad: Universidad de La Frontera (UFRO), Chile
• Host Institution: Instituto de Ciências Biomédicas (ICB). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Associated research grant: 12/51233-2 - Congenital anomalies of the immune system: newborn screening, early intervention, genetic counseling and epidemiological study, AP.PP.SUS

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)