{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T12:47:17Z","timestamp":1790858837436,"version":"4.1.0"},"reference-count":31,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,11,23]],"date-time":"2015-11-23T00:00:00Z","timestamp":1448236800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100010154","name":"Fundaci\u00f3n P\u00fablica Andaluza para la Gesti\u00f3n de la Investigaci\u00f3n en Salud de Sevilla, Hospital Universitario Virgen Del Roc\u00edo (FISEVI, \u201cScott Family Funding\u201d)","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100010154","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Fondo de Investigaciones Sanitarias (FIS), Instituto de Salud Carlos III","award":["PI13\/01104"],"award-info":[{"award-number":["PI13\/01104"]}]},{"name":"Ayudas para contratos de formaci\u00f3n en Investigaci\u00f3n Rio Hortega, Instituto de Salud Carlos III"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Allergy Immunology"],"published-print":{"date-parts":[[2016,2]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>Early diagnosis of primary immunodeficiency such as severe combined immunodeficiency (SCID<\/jats:styled-content>) and X\u2010linked agammaglobulinemia (XLA<\/jats:styled-content>) improves outcome of affected children. T\u2010cell\u2010receptor\u2010excision circles<\/jats:italic> (TREC<\/jats:styled-content>s) and kappa\u2010deleting\u2010recombination\u2010excision circles<\/jats:italic> (KREC<\/jats:styled-content>s) determination from dried blood spots (DBS<\/jats:styled-content>) identify neonates with severe T\u2010 and\/or B\u2010lymphopenia. No prospective data exist of the impact of gestational age (GA<\/jats:styled-content>) and birth weight (BW<\/jats:styled-content>) on TREC<\/jats:styled-content>s and KREC<\/jats:styled-content>s values.<\/jats:p><\/jats:sec>Methods<\/jats:title>TREC<\/jats:styled-content>s and KREC<\/jats:styled-content>s determination using triplex RT<\/jats:styled-content>\u2010PCR<\/jats:styled-content> (TRECS<\/jats:styled-content>\u2010KRECS<\/jats:styled-content>\u2010\u03b2\u2010actin\u2010Assay) from prospectively collected DBS<\/jats:styled-content> between 02\/2014 and 02\/2015 in three hospitals in Seville, Spain. Cut\u2010off levels were TREC<\/jats:styled-content>s < 6\/punch, KREC<\/jats:styled-content>s < 4\/punch and \u2010\u03b2\u2010actin>700\/punch. Internal (SCID<\/jats:styled-content>, XLA<\/jats:styled-content>, ataxia telangiectasia) and external controls (NBS<\/jats:styled-content> quality assurance program, CDC<\/jats:styled-content>) were included.<\/jats:p><\/jats:sec>Results<\/jats:title>A total of 5160 DBS<\/jats:styled-content> were tested. Re\u2010punch was needed in 77 samples (1.5%) due to insufficient \u03b2\u2010actin (<700 copies\/punch). Pre\u2010term neonates (GA<\/jats:styled-content><37 weeks) and neonates with a BW<\/jats:styled-content><2500 g showed significantly lower TREC<\/jats:styled-content>s and KREC<\/jats:styled-content>s levels (p < 0.001). Due to repeat positive results five neonates were re\u2010called (<0.1%): Fatal chromosomopathy (n = 1; TREC<\/jats:styled-content>s 1\/KREC<\/jats:styled-content>s 4); extreme pre\u2010maturity (n = 2; TREC<\/jats:styled-content>s 0\/KREC<\/jats:styled-content>s 0 and TREC<\/jats:styled-content>s 1\/KREC<\/jats:styled-content>s 20 copies\/punch); neonates born to mothers receiving azathioprine during pregnancy (n = 2; TREC<\/jats:styled-content>s 92\/KREC<\/jats:styled-content>s 1 and TREC<\/jats:styled-content>s 154\/KREC<\/jats:styled-content>s 3 copies\/punch). All internal and external controls were correctly identified.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>TRECS<\/jats:styled-content>\u2010KRECS<\/jats:styled-content>\u2013\u03b2\u2010actin\u2010Assay correctly identifies T\u2010 and B\u2010cell lymphopenias. Pre\u2010maturity and low BW<\/jats:styled-content> is associated with lower TREC<\/jats:styled-content> and KREC<\/jats:styled-content> levels. Extreme pre\u2010maturity and maternal immune suppressive therapy may be a cause for false positive results of TREC<\/jats:styled-content>s and KREC<\/jats:styled-content>s values, respectively. To reduce the rate of insufficient samples, DBS<\/jats:styled-content> extraction and storage need to be improved.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pai.12501","type":"journal-article","created":{"date-parts":[[2015,10,26]],"date-time":"2015-10-26T04:08:06Z","timestamp":1445832486000},"page":"70-77","source":"Crossref","is-referenced-by-count":72,"title":["Prospective neonatal screening for severe T\u2010 and B\u2010lymphocyte deficiencies in Seville"],"prefix":"10.1111","volume":"27","author":[{"given":"Beatriz","family":"de Felipe","sequence":"first","affiliation":[{"name":"Seccion de Infectolog\u00eda e Inmunodeficiencias Unidad de Pediatria Hospital Virgen del Roc\u00edo Sevilla\/Instituto de Biomedicina de Sevilla (IBiS) Sevilla Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Olbrich","sequence":"additional","affiliation":[{"name":"Seccion de Infectolog\u00eda e Inmunodeficiencias Unidad de Pediatria Hospital Virgen del Roc\u00edo Sevilla\/Instituto de Biomedicina de Sevilla (IBiS) Sevilla Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Manuel","family":"Lucenas","sequence":"additional","affiliation":[{"name":"Unidad de Inmunolog\u00eda Hospital Universitario Virgen del Roc\u00edo Sevilla Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Delgado\u2010Pecellin","sequence":"additional","affiliation":[{"name":"Unidad de Metabolopat\u00edas Hospital Universitario Virgen del Roc\u00edo Sevilla Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Pavon\u2010Delgado","sequence":"additional","affiliation":[{"name":"Unidad de Neonatolog\u00eda Hospital Universitario Virgen del Roc\u00edo Sevilla Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josefina","family":"Marquez","sequence":"additional","affiliation":[{"name":"Unidad de Pediatr\u00eda Hospital Virgen de Valme Sevilla Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Salamanca","sequence":"additional","affiliation":[{"name":"Unidad de Neonatolog\u00eda Hospital Universitario Virgen de Macarena Sevilla Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pere","family":"Soler\u2010Palacin","sequence":"additional","affiliation":[{"name":"Pediatric Infectious Diseases and Immunodeficiencies Unit Hospital Universitari Vall d'Hebron Institut de Recerca Vall d'Hebron Universitat Aut\u00f2noma de Barcelona (UAB) Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis Ignacio","family":"Gonzalez\u2010Granado","sequence":"additional","affiliation":[{"name":"Division of Immune Deficiency Department of Pediatrics Hospital 12 de Octubre Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura Ferreras","family":"Antolin","sequence":"additional","affiliation":[{"name":"Unidad de Enfermedades Infecciosas e Inmunodeficiencias UGP de Pediatr\u00eda. 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