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Type: Journal article
Title: Newborn screening for primary immunodeficiency diseases: the past, the present and the future
Author: King, J.R.
Ludvigsson, J.F.
Hammarström, L.
Citation: International Journal of Neonatal Screening, 2017; 3(3):1-10
Publisher: MDPI
Issue Date: 2017
ISSN: 2409-515X
Statement of
Jovanka King, Jonas F. Ludvigsson and Lennart Hammarström
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.
Keywords: Newborn screening; primary immunodeficiency diseases; TREC; KREC; next-generation sequencing
Rights: © 2017 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (
DOI: 10.3390/ijns3030019
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