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Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations

11 Apr 2023

Abstract excerpt

Inborn errors of immunity (IEI) are a group of over 450 genetically distinct conditions associated with significant morbidity and mortality, for which early diagnosis and treatment improve outcomes. Newborn screening for severe combined immunodeficiency (SCID) is currently underway in several countries, utilising a DNA-based technique to quantify T cell receptor excision circles (TREC) and kappa-deleting...

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PMID: 37092516
DOI: 10.3390/ijns9020022

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