Early identification and neonatal screening of severe combined immunodeficiencies

Abstract

The thesis discusses the importance of the early identification and neonatal screening of severe combined immunodeficiency. It emphasizes the importance of implementation of worldwide-national newborn screening programs for the identification of SCID and other primary immunodeficiencies. When addressing a pediatric patient with alarming symptoms, the diagnosis of SCID should be kept in mind, as SCID is a life-threatening condition and if not timely-diagnosed, can be fatal.