Need for uniform definitions in newborn screening for SCID: the next challenge for screeners and immunologists

Burg, M. van der (2021)

Other

During the ISNS meeting "Newborn Screening for SCID 'State of the Art'" on 26 and 27 January 2021, the topic of case definitions and related issues were discussed. There is currently a lack of uniform definitions and therefore a lack of uniform registration of screen-positive cases. This severely hampers the comparison of outcomes of different screening programs and the exchange of experiences gained by the different countries performing SCID screening, which is essential to improve screening programs. In this letter, I outline the current situation and indicate the need for uniform definitions and classification, which in my view needs to be a joined effort of screeners and immunologists.

• severe combined immunodeficiency
• TREC
• classification
• case definition

• All authors: Burg, M. van der
• Date: 2021-09-01
• Title of host publication: International Journal of Neonatal Screening
• Volume: 7
• Issue: 3
• DOI: doi:10.3390/ijns7030052
• Link: https://www.mdpi.com/2409-515X/7/3/52/pdf