{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T04:12:20Z","timestamp":1783570340003,"version":"3.55.0"},"reference-count":43,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,7,20]],"date-time":"2018-07-20T00:00:00Z","timestamp":1532044800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Iran Ministry of Health and Education","award":["93-02-40-26209"],"award-info":[{"award-number":["93-02-40-26209"]}]},{"name":"the Immunology, Asthma and Allergy Research Institute"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Scand J Immunol"],"published-print":{"date-parts":[[2018,8]]},"abstract":"Abstract<\/jats:title>T\u2010cell receptor excision circles (TREC<\/jats:styled-content>s) and \u03ba\u2010deleting recombination excision circles (KREC<\/jats:styled-content>s) are recently used for detection of T or B cell lymphopenia in neonates based on region\u2010specific cutoff levels. Here, we report cutoffs for TREC<\/jats:styled-content> and KREC<\/jats:styled-content> copies useful for newborn screening and\/or diagnosis of primary immunodeficiency diseases (PID<\/jats:styled-content>) in Iran. DNA<\/jats:styled-content> was extracted from a single 3.2\u00a0mm punch of dried blood spots collected from 2160 anonymized newborns referred to two major referral health centres between 2014 and 2016. For refinement of the cutoffs, 51 patients with a definite diagnosis of severe combined immunodeficiency, X\u2010linked agammaglobulinaemia and combined immunodeficiency, including ataxia telangiectasia, human phosphoglucomutase 3 and Janus kinase\u20103 deficiency, as well as 47 healthy controls were included. Samples from patients with an X\u2010linked hyper\u2010IgM\u2010syndrome, Wiskott\u2010Aldrich syndrome and DNA<\/jats:styled-content> ligase 4 deficiency were considered as disease controls. Triplex\u2010quantitative real\u2010time PCR<\/jats:styled-content> was used. Cutoffs were calculated as TREC<\/jats:styled-content>s\u00a0<\u00a011 and KREC<\/jats:styled-content>s\u00a0<\u00a06 copies with an ACTB<\/jats:styled-content> > 700 copies with sensitivity of 100% for TREC<\/jats:styled-content> and 97% for KREC<\/jats:styled-content>. Among thirty anonymized newborn samples (1.5%) with abnormal results for TREC<\/jats:styled-content> and\/or KREC<\/jats:styled-content>, only twenty\u2010one available cases were retested and shown to be in the normal range except for three samples (0.15%). All of the patients with a definitive diagnosis were correctly identified based on our established TREC<\/jats:styled-content>\/KREC<\/jats:styled-content> copy numbers. Determining cutoffs for TREC<\/jats:styled-content>\/KREC<\/jats:styled-content> is essential for correctly identifying children with PID<\/jats:styled-content> in newborn screening. Early diagnosis of PID<\/jats:styled-content> patients enables appropriate measures and therapies like stem cell transplantation.<\/jats:p>","DOI":"10.1111\/sji.12699","type":"journal-article","created":{"date-parts":[[2018,6,26]],"date-time":"2018-06-26T07:31:11Z","timestamp":1529998271000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Newborn screening using TREC<\/scp>\/KREC<\/scp> assay for severe T and B cell lymphopenia in Iran"],"prefix":"10.1111","volume":"88","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6472-8223","authenticated-orcid":false,"given":"Maryam","family":"Nourizadeh","sequence":"first","affiliation":[{"name":"Immunology, Asthma and Allergy Research Institute Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila","family":"Shakerian","sequence":"additional","affiliation":[{"name":"Immunology, Asthma and Allergy Research Institute Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Borte","sequence":"additional","affiliation":[{"name":"ImmunoDeficiencyCenter Leipzig (IDCL) Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies Municipal Hospital Leipzig Germany"},{"name":"Department of Laboratory Medicine Division of Clinical Immunology Karolinska University Hospital Huddinge Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammadreza","family":"Fazlollahi","sequence":"additional","affiliation":[{"name":"Immunology, Asthma and Allergy Research Institute Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohsen","family":"Badalzadeh","sequence":"additional","affiliation":[{"name":"Immunology, Asthma and Allergy Research Institute Tehran University of Medical Sciences Tehran 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Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anoshirvan","family":"Kazemnejad","sequence":"additional","affiliation":[{"name":"Department of Biostatistics Tarbiat Modares University Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mostafa","family":"Moin","sequence":"additional","affiliation":[{"name":"Immunology, Asthma and Allergy Research Institute Tehran University of Medical Sciences Tehran Iran"},{"name":"Department of Immunology and Allergy Children Medical Center Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lennart","family":"Hammarstr\u00f6m","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Division of Clinical Immunology Karolinska University Hospital Huddinge Stockholm 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