Children born with the rare SCID disorder can be cured with bone marrow transplantation or gene therapy. However, without the benefit of early detection, lives are lost. Bobby Gaspar, Professor of Pediatrics and Immunology at University College London, is working towards implementing
Severe combined immune deficiency (SCID) was proposed as a potential candidate for universal new born screening as early as the 1970s, but only recently has the technical and political ability to implement universal SCID screening been possible. Among the first states to pilot new born screening for SCID using T cell receptor recombination excision circles (TRECs), California has been able to screen almost two million infants in its first four years of screening. This program has provided a detailed and relatively unbiased assessment of the clinical manifestations of SCID, its incidence, and the genetic epidemiology of the disease. 87% of those infants identified by screening survive through transplant. Screening has resulted in earlier transplant of patients with SCID prior to the emergence of opportunistic infections, improving outcomes and helping to ensure that all children at risk have access to life-saving therapy. While screening for SCID has significantly improved the ascertainment and outcome for most cases of profound T cell lymphopenia, there are important causes of PID that remain undetected by existing screening, and these are excellent candidates for future investigation and possibly for new screening modalities. In addition, improvements in the uniformity and systematic means of transplanting these infants should become an important focus.