Abstract
Primary immunodeficiency diseases (PID) are a heterogeneous group of disorders caused by inborn errors of immunity, with affected children presenting with severe, recurrent or unusual infections. Over 300 distinct genetic molecular abnormalities resulting in PID have been identified, and this number continues to rise. Newborn screening for PID has been established in many countries, with the majority of centers using a PCR-based T cell receptor excision circle (TREC) assay to screen for severe combined immunodeficiency (SCID) and other forms of T cell lymphopenia. Multiplexed screening including quantitation of kappa-recombining exclusion circles (KREC) has also been described, offering advantages over TREC screening alone. Screening technologies are also expanding to include protein-based assays to identify complement deficiencies and granulocyte disorders. Given the rapid advances in genomic medicine, a potential future direction is the application of next-generation sequencing (NGS) technologies to screen infants for a panel of genetic mutations, which would enable identification of a wide range of diseases. However, several ethical and economic issues must be considered before moving towards this screening strategy.
Highlights
Primary immunodeficiency diseases (PID) are a heterogeneous group of disorders which are genetically determined inborn errors of immunity
Available newborn screening technologies have enabled the early identification of severe forms of PID, manifested by T and B cell lymphopenia, which has been demonstrated to have a profound impact on patient outcomes [2]
Since the initiation of population-based newborn screening using dried blood spots (DBS) in the 1960s using a method established by Guthrie and Susi [3], there have been significant advances in our ability to screen asymptomatic infants for severe, life-threatening diseases for which treatment is available, and where early diagnosis and treatment is essential for preventing serious sequelae
Summary
Primary immunodeficiency diseases (PID) are a heterogeneous group of disorders which are genetically determined inborn errors of immunity. Children with PID present with severe, recurrent or unusual infections, and these diseases are associated with significant morbidity and mortality. Available newborn screening technologies have enabled the early identification of severe forms of PID, manifested by T and B cell lymphopenia, which has been demonstrated to have a profound impact on patient outcomes [2]. The future of newborn screening for the identification of PID and other inborn errors is likely to involve a change in screening strategy, where next-generation sequencing will have an increasingly prominent role, potentially even as up-front testing. We review the past and present aspects of newborn screening for primary immunodeficiency diseases, and discuss potential future directions
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