Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency

PURPOSE: Newborn screening (NBS) for severe combined immunodeficiency (SCID) is based on the detection of T-cell receptor excision circles (TRECs). TRECs are a sensitive biomarker for T-cell lymphopenia, but not specific for SCID. This creates a palette of secondary findings associated with low T-ce...

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Detalles Bibliográficos
Autores principales: Blom, Maartje, Pico-Knijnenburg, Ingrid, Imholz, Sandra, Vissers, Lotte, Schulze, Janika, Werner, Jeannette, Bredius, Robbert, van der Burg, Mirjam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8604867/
https://www.ncbi.nlm.nih.gov/pubmed/34370170
http://dx.doi.org/10.1007/s10875-021-01107-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8604867/
https://www.ncbi.nlm.nih.gov/pubmed/34370170
http://dx.doi.org/10.1007/s10875-021-01107-2

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