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T-Cell Receptor Excision Circle/Kappa-Deleting Recombination Excision Circle-Based Newborn Screening Program for Severe Combined Immunodeficiency in Kumamoto, Japan

2 Sept 2025

Abstract excerpt

Severe combined immunodeficiency (SCID) is a life-threatening hereditary disorder that requires early diagnosis and intervention. Therefore, this study aimed to evaluate the utility of T-cell receptor excision circle (TREC) and kappa-deleting recombination excision circle (KREC) measurements in newborn screening (NBS) for SCID and other primary immunodeficiencies in Kumamoto Prefecture, Japan. In a TREC-based NBS...

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PMID: 40892369
DOI: 10.1007/s12013-025-01873-5

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