Newborn screening for severe combined immunodeficiency: changing the landscape of post-transplantation survival

Abstract

Severe combined immunodeficiency (SCID) represents a group of rare monogenic immune disorders resulting from defects of the adaptive immune system. Affected patients have a high risk of fatal outcome in infancy mainly due to early overwhelming infections. 1 Tangye SG Al-Herz W Bousfiha A et al. Human inborn errors of immunity: 2022 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022; 42: 1473-1507 Crossref PubMed Scopus (134) Google Scholar Hence, timely diagnosis and therapeutic interventions shortly after birth are vital. The gold standard of treatment for SCID is allogeneic haematopoietic stem cell transplantation (HSCT), which can provide a functional immune system and is lifesaving. Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment ConsortiumPopulation-based newborn screening has facilitated the identification of infants with SCID early in life, in turn leading to prompt HCT while avoiding infections. Public health programmes worldwide can benefit from this definitive demonstration of the value of newborn screening for SCID. Full-Text PDF