The first inborn error of immunity (IEI) to be found through population screening was severe combined immune deficiency (SCID), which affected newborns. Screening newborns for SCID has made it possible to determine the prevalence of this illness in the general community and assess the impact of early therapies on the long-term results for infants diagnosed with the condition. As a result of the success of the SCID newborn screening program, there was a growing interest in the development and implementation of molecular testing for other clinically relevant inborn errors of immunity. This methodology was modified to test spinal muscle atrophy, another monogenic kind of congenital malformation. The importance of early diagnosis and rapid therapy initiation to reduce morbidity and mortality was supported by recent developments in clinical care and the introduction of new medications for many inherited immune system disorders. Patients who were diagnosed early might also have an improvement in their overall quality of life. This page summarizes SCID screening for newborns, processes that should be followed for follow-up testing and early intervention, and recommendations for long-term follow-up. Creating a clinical consensus about confirmatory and diagnostic tests, early therapies, and best practices for immune reconstitution in newborns who have been impacted was one of the many difficulties that needed to be addressed.

Source – link.springer.com/article/10.1007/s12016-021-08876-z