Evidence map›Paper›PMID 41459527›Full record

ArticleFrontiers in immunology2025

Newborn screening for SCID and severe T- and B-cell lymphopenia in Ukraine: the first analysis of the results, 2022-2025.

Oksana Boyarchuk, Halyna Makukh, Alla Volokha, Anastasiia Bondarenko, Nataliia Mytsyk, Oksana Barvinska, Ivanna Shymanska, Yuliia Pohuliai, Mykola Veropotvelyan, Anastasia Haviley and 10 more

Abstract read
In one paragraph

Article in Frontiers in immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

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0cells of the map it votes in
3citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

20 authors.

Oksana BoyarchukDepartment of Children's Diseases and Pediatric Surgery, I. Horbachevsky Ternopil National Medical University, Ternopil, Ukraine.
Halyna MakukhDepartment of Regional Center of Neonatal Screening, Lviv Regional Clinical Perinatal Centre, Lviv, Ukraine.
Alla VolokhaDepartment of Pediatrics, Neonatology, Infectious Diseases, Immunology and Allergology, Shupyk National Healthcare University of Ukraine, Kyiv, Ukraine.
Anastasiia BondarenkoDepartment of Pediatrics, Immunology, Infectious and Rare Diseases, International European University, Kyiv, Ukraine.
Nataliia MytsykCenter of Genetic Diagnostics and Cell Immunotherapy, National Specialized Children's Hospital "OHMATDYT", Kyiv, Ukraine.
Oksana BarvinskaCenter of Genetic Diagnostics and Cell Immunotherapy, National Specialized Children's Hospital "OHMATDYT", Kyiv, Ukraine.
Ivanna ShymanskaDepartment of Regional Center of Neonatal Screening, Lviv Regional Clinical Perinatal Centre, Lviv, Ukraine.
Yuliia PohuliaiDepartment of Neonatal Screening, Multiregional Center of Medical Genetics and Prenatal Diagnostics Named After P. M. Veropotvelyan, Kryvyi Rih, Ukraine.
Mykola VeropotvelyanDepartment of Neonatal Screening, Multiregional Center of Medical Genetics and Prenatal Diagnostics Named After P. M. Veropotvelyan, Kryvyi Rih, Ukraine.
Anastasia HavileyLaboratory of Molecular Diagnostics, Kharkiv Specialized Medical Genetics Center - Center for Rare (Orphan) Diseases, Kharkiv, Ukraine.
Marharyta HurinaLaboratory of Molecular Diagnostics, Kharkiv Specialized Medical Genetics Center - Center for Rare (Orphan) Diseases, Kharkiv, Ukraine.
Yaryna RomanyshynClinic of Pediatric Immunology and Rheumatology, Western Ukrainian Specialized Children's Medical Centre, Lviv, Ukraine.
Maryna TrophymovaCenter of Orphan Diseases and Gene Therapy, National Specialized Children's Hospital "OHMATDYT", Kyiv, Ukraine.
Iryna HrabovskaDepartment of Pediatrics Oncohematology, Volyn Regional Territorial Mother and Child Health Care Center, Lutsk, Ukraine.
Oksana MalkoCenter for Oncohematology, Immunology and Metabolic Disorders, Rivne Regional Council Municipal Enterprise "Rivne Regional Children's Hospital", Rivne, Ukraine.
Tetiana TsankoDepartment of Oncohematology, Municipal Non-Profit Enterprise "Regional Children's Hospital of the Transcarpathian Regional Council", Uzhhorod, Ukraine.
Oksana TykholazDepartment of Propedeutics of Pediatric Diseases with Patient Care, National Pirogov Memorial Medical University, Vinnytsya, Ukraine.
Oleksandr LysytsiaDepartment of Bone Marrow Transplantation and Intensive Megadose Chemotherapy and Immunotherapy, National Specialized Children's Hospital "OHMATDYT", Kyiv, Ukraine.
Nataliia SamonenkoCenter of Orphan Diseases and Gene Therapy, National Specialized Children's Hospital "OHMATDYT", Kyiv, Ukraine.
Nataliia OlkhovychCenter of Genetic Diagnostics and Cell Immunotherapy, National Specialized Children's Hospital "OHMATDYT", Kyiv, Ukraine.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Severe combined immunodeficiency (SCID) and other profound T- and B-cell lymphopenias are life-threatening conditions that benefit from early diagnosis and treatment. In October 2022, Ukraine launched a nationwide newborn screening (NBS) program for SCID using the T-cell receptor excision circle/kappa-deleting recombination excision circle/spinal muscular atrophy (TREC/KREC/SMA) assay, despite ongoing war-related challenges. The aim of this study was to analyze the results of the SCID NBS program in Ukraine, evaluate its effectiveness, and outline the current challenges and future directions for its development. Methods: We analyzed data of screened newborns for SCID and related lymphopenias using the TREC/KREC/SMA assay from October 2022 to April 2025. The results of lymphocyte flow cytometry values, genetic testing, and clinical management of patients with positive TREC/KREC results were evaluated. Results: Among 398,415 screened newborns, 57 were identified with positive results (32 TREC ± KREC and 25 only KREC). The program demonstrated a high diagnostic yield, with an overall referral rate of 0.01%. In total, 18 newborns with inborn errors of immunity were diagnosed due to NBS (7 SCID/leaky SCID and 11 non-SCID). One case of ZAP70 deficiency was missed due to normal levels of T cells. The incidence of SCID/leaky SCID detected by NBS was 1 in 57,000 live births, and 1 in 49,800 live births when all diagnosed cases, including one initially missed case, were taken into account, which is comparable to data from other countries. All patients with SCID/leaky SCID identified by NBS received hematopoietic stem cell transplantation, with a survival rate of 85.7%. Nijmegen breakage syndrome was the most common syndromic cause of non-SCID T-cell lymphopenias (three cases). The use of the KREC assay enabled the first-time identification in Ukraine of B-cell lymphopenias associated with variants in Conclusions: The nationwide NBS program in Ukraine demonstrated high sensitivity and specificity in detecting SCID, with a low referral rate and high survival rates among diagnosed patients.

Indexed as

B-LymphocytesLymphopeniaNeonatal ScreeningSevere Combined ImmunodeficiencyT-LymphocytesFemaleHumansInfant, NewbornMaleUkraineinborn errors of immunityKRECNBSnewborn screeningSCIDsevere combined immunodeficiencyTRECUkraine

Identifiers

PMID41459527
PMCPMC12738327

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