Authors
Gulzada Abdushukurova, Alken Auyelova, Banu Kadyrbayeva, Ardak Ayazbekov, Dina Mussayeva, Ainash Oshibayeva, Kumissay Babayeva, Liliya Khairullina, Karlygash Sadykova, Gulnaz Nuskabaeva
Published in
International journal of neonatal screening. Volume 12. Issue 3. Jul 07, 2026. Epub Jul 07, 2026.
Abstract
The early detection of Severe Combined Immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) prevents fatal outcomes. This study presents the first pilot TREC/KREC newborn screening (NBS) program in southern Kazakhstan, a high-birth-rate region, to establish local reference ranges and assess operational viability. A multiplex real-time PCR assay was used to quantify T-cell (TREC) and kappa-deleting recombination excision circles (KRECs) from dried blood spots of 5000 unselected neonates. Biomarkers were normalized to copies per 106 cells using albumin as a diploid reference gene. Regional 0.5th percentile cut-offs were established (TREC < 3165 copies/106 cells and KREC < 2554 copies/106 cells), and gender and gestational age did not significantly impact biomarker levels. While a low birth weight (≤2500 g) significantly reduced KREC levels, the extreme lower distribution tails remained unaffected, validating the use of universal, unstratified thresholds. Applying these cut-offs yielded an optimal 1.0% initial recall rate. Consistent with global incidence rates, no true positive cases were identified. The established assay and universal percentile cut-offs demonstrate high levels of analytical reliability and demographic stability. This pilot confirms the regional pediatric healthcare infrastructure's readiness for a routine, population-based NBS program without the need for complex algorithms.
PMID:
42496456
Bibliographic data and abstract were imported from PubMed on 24 Jul 2026.
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