Evaluation of the T-cell receptor excision circle assay performances for severe combined immunodeficiency neonatal screening on Guthrie cards in a French single centre study

Primer estudio piloto en España sobre el cribado neonatal de las inmunodeficiencias primarias: TRECS y KRECS identifican linfopenias T y B graves

“…Publicaciones recientes provenientes de estudios predominantemente retrospectivos del Reino Unido, Francia e Israel documentan el interés de añadir el cribado para las IDCG al cribado neonatal habitual 22,24,25 . Es importante destacar que nuestro trabajo, con su diseño prospectivo, no solamente es el primer estudio de este tipo en la población hispana, sino uno de los primeros en Europa.…”

Current status of newborn screening worldwide: 2015

“…[88][89][90] On the other hand, several jurisdictions are expanding their NBS panel to include SCID. [90][91][92][93][94] Over time, the European Union (EU), presently consisting of 28 countries, has established several treaties on topics to be governed or overseen by the European Commission (EU's Executive Body). Healthcare has not been included because the member states considered it to be their own responsibility (principle of subsidiarity).…”

Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T‐cell receptor excision circle‐based method in Victorian dried blood spots

“…12 Since 2008, screening for SCID has been implemented in more than 40 states in the US, with several pilot studies performed in Europe and the UK. 9,10,[13][14][15][16] To date, more than 100 cases of SCID have been identified by NBS world-wide. 10,16 In all published studies, screening programmes measuring TREC have correctly identified infants with typical and atypical SCID, and there were no cases of SCID that were not detected by NBS and later identified.…”