ArticleInternational journal of neonatal screening2026
Optimizing Kappa-Deleting Recombination Excision Circles (KREC) Cut-Off Values in Russian Newborn Screening Program: Balancing Sensitivity and False-Positive Rates.
Article in International journal of neonatal screening, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Newborn screening (NBS) for primary immunodeficiencies (PIDs) increasingly incorporates kappa-deleting recombination excision circles (KREC) to enable early detection of B-cell lymphopenia, particularly agammaglobulinemia (AGG). However, optimal KREC cut-off values remain poorly defined, limiting sensitivity and contributing to high false-positive rates. We evaluated KREC-based NBS using data from a nationwide Russian program that screened more than 3.4 million newborns. KREC measurements from 66 patients with genetically confirmed AGG and 534 newborns with initially abnormal screening results but normal immunophenotyping were analyzed using statistical and ROC-based approaches. By using a KREC cut-off of 100 copies per 10
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