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Newborn Screening for Primary T- and B-Cell Immune Deficiencies—A Prospective Study in Andalucía

Opened Access Newborn Screening for Primary T- and B-Cell Immune Deficiencies—A Prospective Study in Andalucía

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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
Fecha: 2017
Tipo de documento: Artículo
Resumen: 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 (<700 copies/punch). Preterm neonates (GA < 37 weeks) and neonates with a BW < 2500 g showed significantly lower TR...
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Tamaño: 644.1Kb
Formato: PDF

URI: https://hdl.handle.net/11441/69189

DOI: 10.3390/ijns3040027

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