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ORIGINAL RESEARCH article
Front. Immunol.
Sec. Primary Immunodeficiencies
Volume 15 - 2024 |
doi: 10.3389/fimmu.2024.1384195
This article is part of the Research Topic Enhancing Early Detection of Primary Immunodeficiencies (PIDs) View all 3 articles
Newborn Screening for SCID: The very first prospective pilot study from Türkiye
Provisionally accepted- 1 Ankara University, School of Medicine, Department of Pediatrics, Division of Immunology and Allergy, Ankara, Türkiye
- 2 Ankara University, School of Medicine, Department of Forensic Medicine, Forensic Genetics Laboratory, Ankara, Turkey, Ankara, Türkiye
- 3 Hacettepe University, School of Medicine, Department of Pediatrics, Division of Immunology, Ankara, Türkiye
- 4 The Ministry of Health, Public Health General Directorate, Pediatric and Adolescent Health Department, Ankara, Türkiye
- 5 Intergen Genetics and Rare Diseases Diagnosis Research & Application Center, Ankara, Türkiye
- 6 Necmettin Erbakan University, Meram Faculty of Medicine, Department of Pediatrics Division of Immunology and Allergy, Ankara, Türkiye
Purpose: The measurement of T-cell receptor excision circle (TREC) is used for newborn screening (NBS) in dried blood spot (DBS) samples from Guthrie card for severe combined immunodeficiency (SCID). Here, we report the results of first newborn screening pilot program for SCID conducted in Türkiye. Methods: The study was carried out together with Ankara University School of Medicine and The Ministry of Health, Public Health General Directorate, Pediatric and Adolescent Health Department. TREC measurements were performed in randomly selected Guthrie card samples obtained from 20253 babies born between October 2018 and October 2020. The TREC analyses were performed together with beta Actin (β-Actin) via RT-PCR (Real Time Polymerase Chain Reaction). Results: TRECs found to be normal (≥15 copies/µl) in 98,6% of the newborns (n: 19975) but low (<15 copies/µl) in 1.4% (n:278) at the initial analyses. TRECs were retested in 278 suspected infants and found to be normal in 160 (0.8%) while low in 118 (0.58%). New DBS were obtained from the babies with low TRECs (new sample test). TRECs were normal in 108 (0.53%) of the new sample tests and low in 10 (0.049%). Two among 10 babies who had abnormal (undetectable) TRECs were diagnosed as SCID; ADA (P1) and RAG1 (P2) defects were confirmed respectively. They both received curative treatments [gene therapy (P1) and HSCT (P2)]. The remaining 6 of 8 newborns with abnormal TRECs were found normal after clinical and laboratory immune work-up, while medical records of other two revealed early postnatal death due to extreme prematurity. Conclusion: In the light of this study the incidence of SCID was detected at least 1/10000 live births in Türkiye. This study shows the feasibility and usefulness of initiating SCID screening in Türkiye.
Keywords: Newborn screening, TREC, SCID, türkiye, Dried blood sample (DBS)
Received: 08 Feb 2024; Accepted: 02 Sep 2024.
Copyright: © 2024 Haskoloğlu, Kocak, Satıroglu Tufan, Eken Aksoy, Bastug, Aslar Oner, Islamoglu, Baskın, Esenboga, Acıcan, Ceylaner, GUner, Keles, Cagdas Ayvaz, Reisli, Tezel, Dogu, Tezcan and Ikinciogullari. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Şule Haskoloğlu, Ankara University, School of Medicine, Department of Pediatrics, Division of Immunology and Allergy, Ankara, Türkiye
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