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Establishing a comprehensive program for Severe Combined Immunodeficiency in São Paulo, Brazil: newborn screening and molecular diagnosis

Grant number: 14/01215-3
Support type:Scholarships abroad - Research Internship - Post-doctor
Effective date (Start): May 20, 2014
Effective date (End): August 19, 2014
Field of knowledge:Health Sciences - Medicine - Maternal and Child Health
Principal researcher:Antonio Condino Neto
Grantee:Marília Pyles Patto Kanegae
Supervisor abroad: Bobby Gaspar
Home Institution: Instituto de Ciências Biomédicas (ICB). Universidade de São Paulo (USP). São Paulo , SP, Brazil
Research place: University College London (UCL), England  
Associated to the scholarship:11/50436-4 - Genetic diseases and congenital anomalies seriously affecting the immune system: a model for neonatal screening through development and validation of diagnostic tests and epidemiological study, BP.PD


Severe Combined Immunodeficiency (SCID) is the most severe form of primary immunodeficiency and is characterized by the absence or dysfunction of T lymphocytes, associated with a defective antibody response, which might result from intrinsic defects in B lymphocytes or inadequate T-cell activity. If left untreated, SCID patients will eventually die by their second year of life and this makes early diagnosis and good clinical management crucial. Hematopoietic stem cell transplantation or gene therapy are the only curative treatments available. Determining the real incidence and prevalence of SCID remains a challenge worldwide. In Europe and North America, a SCID prevalence of 1/50,000 and a minimal incidence of 1/100,000 per year are estimated. Mortality is high, before and after hematopoietic stem cell transplantation because of the difficulty in treating these patients who have been diagnosed late and who have acquired significant infective problems. There are many genetic causes of SCID and mutations in more than 18 genes have already been described. Molecular diagnosis and subsequent genetic counseling are not available in Brazil yet, and it is the aim of this application to establish this investigation process. This proposal aims to implement a comprehensive program for SCID in São Paulo, Brazil. Once we already have the pilot newborn screening program for SCID/ severe T lymphopenia taking place in our laboratory, the next step is to implement in our service, the molecular-genetic diagnosis for these patients. Therefore, through collaboration with Prof. Bobby Gaspar (GOSHCC Professor of Pediatrics and Immunology) from the Molecular Immunology Unit at Institute of Child Health, University College London, we aim to obtain the complete SCID diagnosis of some patients we have and in the future, implement these techniques in Prof. Condino´s laboratory at ICB-USP. This initiative will allow us to establish a research line about SCID in our developing country environment, as little is known about SCID in this context. (AU)

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