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Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice.

  • King, Jovanka R1, 2
  • Hammarström, Lennart3, 4
  • 1 Department of Clinical Immunology, Karolinska University Hospital Huddinge, SE-141 86, Stockholm, Sweden. , (Sweden)
  • 2 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, South Australia, 5006, Australia. , (Australia)
  • 3 Department of Clinical Immunology, Karolinska University Hospital Huddinge, SE-141 86, Stockholm, Sweden. [email protected] , (Sweden)
  • 4 BGI-Shenzhen, Shenzhen, 518083, China. [email protected] , (China)
Published Article
Journal of Clinical Immunology
Publication Date
Nov 08, 2017
DOI: 10.1007/s10875-017-0455-x
PMID: 29116556


The primary objective of population-based newborn screening is the early identification of asymptomatic infants with a range of severe diseases, for which effective treatment is available and where early diagnosis and intervention prevent serious sequelae. Primary immunodeficiency diseases (PID) are a heterogeneous group of inborn errors of immunity. Severe combined immunodeficiency (SCID) is one form of PID which is uniformly fatal without early, definitive therapy, and outcomes are significantly improved if infants are diagnosed and treated within the first few months of life. Screening for SCID using T cell receptor excision circle (TREC) analysis has been introduced in many countries worldwide. The utility of additional screening with kappa recombining excision circles (KREC) has also been described, enabling identification of infants with severe forms of PID manifested by T and B cell lymphopenia. Here, we review the early origins of newborn screening and the evolution of screening methodologies. We discuss current strategies employed in newborn screening programs for PID, including TREC and TREC/KREC-based screening, and consider the potential future role of protein-based assays, targeted sequencing, and next generation sequencing (NGS) technologies, including whole genome sequencing (WGS).

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