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Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency and is fatal in infancy if untreated. As early diagnosis is associated with improved outcomes, SCID is an… Click to show full abstract
Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency and is fatal in infancy if untreated. As early diagnosis is associated with improved outcomes, SCID is an ideal condition to consider for inclusion in a newborn screening (NBS) programme in Australia. In this feasibility study, we evaluated the EnLite Neonatal TREC kit for detection of T‐cell receptor excision circles (TRECs) from NBS dried blood spots for the identification of known SCID patients in Victoria.
Keywords:
immunodeficiency;
receptor excision;
cell receptor;
combined immunodeficiency;
newborn screening;
severe combined
Journal Title: Journal of Paediatrics and Child Health
Year Published: 2018
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Journal Title: Journal of Paediatrics and Child Health
Year Published: 2018
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!