{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T03:57:47Z","timestamp":1790913467443,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,3,23]],"date-time":"2025-03-23T00:00:00Z","timestamp":1742688000000},"content-version":"vor","delay-in-days":81,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP21gk0110041, JP20gk0110050"],"award-info":[{"award-number":["JP21gk0110041, JP20gk0110050"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["18K07814, 19K08316, 21K07791"],"award-info":[{"award-number":["18K07814, 19K08316, 21K07791"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","award":["JS\u201020gk0110041h0002, JS\u201022ek0109471h0003, JS\u201016gk0"],"award-info":[{"award-number":["JS\u201020gk0110041h0002, JS\u201022ek0109471h0003, JS\u201016gk0"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Severe combined immunodeficiency (SCID) due to T\u2010cell deficiency is the most severe form of inborn error of immunity (IEI). It frequently leads to severe and recurrent infections and the first infection or live vaccines can sometimes be fatal. Patients with B\u2010cell deficiency (BCD), such as X\u2010linked agammaglobulinaemia (XLA), also suffer from severe or recurrent infections. Thus, early diagnosis via newborn screening (NBS) is suitable for these types of diseases. We developed a lyophylized TaqMan\u2010based quantitative polymerase chain reaction (qPCR) kit with primers and probes for the simultaneous detection of T\u2010cell receptor excision circles (TREC) and \u03ba\u2010deleting recombination excision circles (KREC). We also developed a fully automated DNA extraction and purification process using Magtration technology from dried blood spots (DBS), enabling high\u2010throughput analysis<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We examined 15,258 stored DBS collected from 2014 to 2015 by this method. Newborn screening samples from children with a known SCID, XLA or ataxia\u2010telangiectasia (AT) were also examined as positive controls.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      <jats:italic>RPPH1<\/jats:italic>\n                      (internal control), TREC, and KREC all had near\u2010normal distributions. One specimen was below the cut\u2010off for TREC (0.00657%) after exclusion of 36 specimens due to the failure of DNA extraction (0.23%). The TREC levels in the patients with AT and SCID, and KREC levels in the patients with AT and XLA were all below cut\u2010off or absent.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This assay would allow the establishment of qPCR\u2010based NBS in unfamiliar laboratories leading to the early diagnosis of SCID and BCD.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ped.15872","type":"journal-article","created":{"date-parts":[[2025,3,23]],"date-time":"2025-03-23T14:53:59Z","timestamp":1742741639000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A high\u2010throughput\n                    <scp>TREC\u2010<\/scp>\n                    and\n                    <scp>KREC<\/scp>\n                    \u2010based newborn screening for severe inborn errors of immunity"],"prefix":"10.1111","volume":"67","author":[{"given":"Haruka","family":"Hiroki","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University (TMDU)  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1275-243X","authenticated-orcid":false,"given":"Kunihiko","family":"Moriya","sequence":"additional","affiliation":[{"name":"Department of Pediatrics National Defense Medical College  Saitama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toru","family":"Uchiyama","sequence":"additional","affiliation":[{"name":"Department of Human Genetics National Center for Child Health and Development  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumi","family":"Hirose","sequence":"additional","affiliation":[{"name":"Department of Pediatrics National Defense Medical College  Saitama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akifumi","family":"Endo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University (TMDU)  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iori","family":"Sato","sequence":"additional","affiliation":[{"name":"Shimadzu Diagnostics Co., Ltd.  Yuki\u2010shi Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuhiro","family":"Tomaru","sequence":"additional","affiliation":[{"name":"Center for Stem Cell and Regenerative Medicine Tokyo Medical and Dental University  Tokyo Japan"},{"name":"Tsukuba Oligo Service Co., Ltd  Ushiku Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazumi","family":"Sawakami","sequence":"additional","affiliation":[{"name":"Precision System Science Co., Ltd  Matsudo Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norio","family":"Shimizu","sequence":"additional","affiliation":[{"name":"Center for Stem Cell and Regenerative Medicine Tokyo Medical and Dental University  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidenori","family":"Ohnishi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medicine Gifu University  Gifu\u2010Shi Gifu 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