Newborn Screening for Primary T- and B-Cell Immune Deficiencies—A Prospective Study in Andalucía
| Autor: | Felipe, Beatriz de, Olbrich, Peter, Goycochea Valdivia, Walter, Delgado Pecellín, Carmen, Sánchez Moreno, Paula, Sánchez Sánchez, Berta, Lucena Soto, José Manuel, Ferrari Cortés, Araceli, Salguero Martín de Soto, Josefa |
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| Přispěvatelé: | Universidad de Sevilla. CTS-197: Servicio de Inmunología, Instituto de Salud Carlos III |
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: | |
| Zdroj: | idUS. Depósito de Investigación de la Universidad de Sevilla instname |
| Popis: | Background: Quantification of T-cell-receptor-excision circles (TRECs) and kappa-deleting-recombination-excision circles (KRECs) from dried blood spots (DBS) allows detection of neonates with severe T-cell and/or B-cell lymphopenia that are potentially affected by severe combined immunodeficiency (SCID), as well as X-linked agammaglobulinemia (XLA). Methods: Determination of TRECs and KRECs using a triplex RT-PCR (TRECS-KRECS-β-actin) assay from prospectively collected DBS between February 2014 and December 2016 in three hospitals in Seville, Spain. Cut-off levels were TRECs < 6/punch, KRECs < 4/punch and b-actin > 700/punch. Internal (SCID, XLA, ataxia telangiectasia) and external controls (CDC) were included. Results: A total of 8943 DBS samples obtained from 8814 neonates were analysed. Re-punching was necessary in 124 samples (1.4%) due to insufficient β-actin values ( |
| Databáze: | OpenAIRE |
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