{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T06:23:12Z","timestamp":1783578192952,"version":"3.55.0"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,9,1]],"date-time":"2017-09-01T00:00:00Z","timestamp":1504224000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Paediatrics Child Health"],"published-print":{"date-parts":[[2018,1]]},"abstract":"Aim<\/jats:title>Severe combined immunodeficiency (SCID<\/jats:styled-content>) is the most severe form of primary immunodeficiency and is fatal in infancy if untreated. As early diagnosis is associated with improved outcomes, SCID<\/jats:styled-content> is an ideal condition to consider for inclusion in a newborn screening (NBS<\/jats:styled-content>) programme in Australia. In this feasibility study, we evaluated the EnLite<\/jats:styled-content> Neonatal TREC<\/jats:styled-content> kit for detection of T\u2010cell receptor excision circles (TRECs<\/jats:styled-content>) from NBS<\/jats:styled-content> dried blood spots for the identification of known SCID<\/jats:styled-content> patients in Victoria.<\/jats:p><\/jats:sec>Methods<\/jats:title>TREC<\/jats:styled-content> copies\/\u03bcL<\/jats:styled-content> were measured retrospectively in 14 children diagnosed with SCID<\/jats:styled-content> or complete DiGeorge<\/jats:styled-content> syndrome (CDGS<\/jats:styled-content>) from 2005 to 2015 at the Royal Children's Hospital, Melbourne. In addition, TREC<\/jats:styled-content> copies\/\u03bcL<\/jats:styled-content> were measured for 501 prospective de\u2010identified NBS<\/jats:styled-content> cards.<\/jats:p><\/jats:sec>Results<\/jats:title>Of 14 known SCID<\/jats:styled-content> or CDGS<\/jats:styled-content> samples, 11 were correctly identified as presumptive positive samples with low or undetectable TREC<\/jats:styled-content> on duplicate testing. The remaining three samples also had low or undetectable TREC<\/jats:styled-content> on duplicate testing but were considered invalid due to insufficient \u03b2\u2010actin DNA<\/jats:styled-content> amplification. Of the 501 prospective NBS<\/jats:styled-content> samples, none were identified as presumptive positive samples on duplicate testing.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>The EnLite<\/jats:styled-content> Neonatal TREC<\/jats:styled-content> kit correctly identified known SCID<\/jats:styled-content> or CDGS<\/jats:styled-content> patients as presumptive positive samples, and initial cut\u2010offs for TREC<\/jats:styled-content> and \u03b2\u2010actin in the Victorian NBS<\/jats:styled-content> population were determined. A larger pilot study is required to confirm these proposed cut\u2010offs and to evaluate the cost and implementation of this screening programme in Victoria, Australia. Overall, this study provides preliminary data to support the introduction of this assay to the NBS<\/jats:styled-content> programme in Victoria.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jpc.13659","type":"journal-article","created":{"date-parts":[[2017,9,1]],"date-time":"2017-09-01T05:06:46Z","timestamp":1504242406000},"page":"14-19","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T\u2010cell receptor excision circle\u2010based method in Victorian dried blood spots"],"prefix":"10.1111","volume":"54","author":[{"given":"Stephanie","family":"Richards","sequence":"first","affiliation":[{"name":"Immunology Laboratory, Laboratory Services Royal Children's Hospital Melbourne Victoria Australia"},{"name":"Department of Allergy and Immunology Royal Children's Hospital Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Pitt","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services, Murdoch Children's Research Institute Royal Children's Hospital Melbourne Victoria Australia"},{"name":"Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences University of Melbourne Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Choo","sequence":"additional","affiliation":[{"name":"Immunology Laboratory, Laboratory Services Royal Children's Hospital Melbourne Victoria Australia"},{"name":"Department of Allergy and Immunology Royal Children's Hospital Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,9]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-014-0029-0"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2010-08-300384"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2011.12.964"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2013.04.024"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-014-0006-7"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/00333549101250S211"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2012.01.032"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e32834cb9b0"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-014-0007-6"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-015-0152-6"},{"key":"e_1_2_9_12_1","volume-title":"3301.0 \u2013 Births, Australia 2014","author":"Australian Bureau of Statistics","year":"2016"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2004.10.012"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.semperi.2015.03.004"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2013.11.012"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-016-0347-5"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.9132"},{"key":"e_1_2_9_18_1","first-page":"514","article-title":"Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome","volume":"34","author":"Lingman Framme J","year":"2014","journal-title":"J. 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