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Newborn Screening for Primary Immunodeficiency Diseases: The Past, the Present and the Future

Department of Clinical Immunology, Karolinska University Hospital Huddinge, SE-14186 Stockholm, Sweden
Department of Immunopathology, SA Pathology, Women’s and Children’s Hospital Campus, Robinson Research Institute and Discipline of Paediatrics, School of Medicine, University of Adelaide, North Adelaide 5006, Australia
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, SE-10435 Stockholm, Sweden
Department of Gastroenterology, Faculty of Medicine and Health, Örebro University, SE-70281 Örebro, Sweden
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2017, 3(3), 19;
Received: 18 July 2017 / Revised: 18 July 2017 / Accepted: 1 August 2017 / Published: 3 August 2017
PDF [362 KB, uploaded 3 August 2017]


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. View Full-Text
Keywords: newborn screening; primary immunodeficiency diseases; TREC; KREC; next-generation sequencing newborn screening; primary immunodeficiency diseases; TREC; KREC; next-generation sequencing

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King, J.; Ludvigsson, J.F.; Hammarström, L. Newborn Screening for Primary Immunodeficiency Diseases: The Past, the Present and the Future. Int. J. Neonatal Screen. 2017, 3, 19.

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