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Int. J. Neonatal Screen. 2017, 3(2), 11; doi:10.3390/ijns3020011

Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay—A Three-Year Pilot Study in Sweden

1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital Solna, SE-17176 Stockholm, Sweden
2
Department of Molecular Medicine and Surgery, Karolinska Institutet, SE-17176 Stockholm, Sweden
3
Department of Medical Biochemistry and Biophysics, Division of Molecular Metabolism, Karolinska Institutet, SE-17177 Stockholm, Sweden
4
Department of Clinical Immunology, Karolinska University Hospital Huddinge, SE-14186 Stockholm, Sweden
5
ImmunoDeficiencyCenter Leipzig (IDCL) at Hospital St. Georg Leipzig, Delitzscher Strasse 141, 04129 Leipzig, Germany
6
Department of Clinical Technology and Intervention, Karolinska Institutet, SE-14186 Stockholm, Sweden
7
Department of Pediatrics, Karolinska University Hospital Huddinge, SE-14186 Stockholm, Sweden
*
Authors to whom correspondence should be addressed.
Academic Editor: Ralph Fingerhut
Received: 7 April 2017 / Revised: 9 May 2017 / Accepted: 10 May 2017 / Published: 19 May 2017
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Abstract

Background: Screening newborns for severe combined immunodeficiency (SCID) has become essential, since efficient methods to identify infants with these disorders exist and early stem cell transplantation is life-saving. Method: We performed a three-year screening trial in Stockholm comprised of 89,462 newborn infants. The number of T-cell receptor excision circle (TREC)/kappa-deleting recombination excision circle (KREC)/β-actin (ACTB) copies were quantified simultaneously by real time polymerase chain reaction (PCR) in 3.2 mm punches from dried blood samples taken in the regular neonatal screening program. Results: Five patients with immune deficiencies were identified: two with SCID caused by mutations in the Artemis- and adenosine deaminase gene, respectively, one with ataxia telangiectasia and two with reversible agammagloblinemia, which so far, is of unknown cause. This points to an incidence of SCID at the same level as in other studies (around 1:50,000). In 19 recalled infants, low KREC levels and in one case, also low TREC levels, were caused by immunosuppressive treatment of the mother during pregnancy. The levels normalized within a month in all these infants. The total recall rate was 0.10%, and 40% of the recalled infants were born prematurely (<37 weeks gestation). Among 69 patients with inborn errors of metabolism screened retrospectively, only two, who were severely ill with organic acidemias when the sample was taken, and two with mitochondrial disorders, screened positive. View Full-Text
Keywords: severe combined immunodeficiency (SCID); primary immune deficiencies (PID); T-cell receptor excision circle (TREC); kappa-deleting recombination excision circle (KREC); newborn screening; neonatal screening; azathioprine; tacrolimus; Bruton; inborn errors of metabolism severe combined immunodeficiency (SCID); primary immune deficiencies (PID); T-cell receptor excision circle (TREC); kappa-deleting recombination excision circle (KREC); newborn screening; neonatal screening; azathioprine; tacrolimus; Bruton; inborn errors of metabolism
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Zetterström, R.H.; Barbaro, M.; Ohlsson, A.; Borte, S.; Jonsson, S.; Winiarski, J.; von Döbeln, U.; Hammarström, L. Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay—A Three-Year Pilot Study in Sweden. Int. J. Neonatal Screen. 2017, 3, 11.

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