Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech
SCID NBS pilot programme

J 2025

Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme

BLOOMFIELD, Marketa; Eva HLAVÁČKOVÁ; Helena SCHNEIDEROVÁ; Marek TURNOVEC; Lukas TICHY et. al.

Basic information

Original name

Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme

Authors

BLOOMFIELD, Marketa (203 Czech Republic); Eva HLAVÁČKOVÁ (203 Czech Republic, belonging to the institution); Helena SCHNEIDEROVÁ (203 Czech Republic, belonging to the institution); Marek TURNOVEC (203 Czech Republic); Lukas TICHY (203 Czech Republic); Zbynek CECH (203 Czech Republic); Petr CHRASTINA (203 Czech Republic); Lenka DVORAKOVA (203 Czech Republic); Karolina PESKOVA (203 Czech Republic); Renata FORMANKOVA (203 Czech Republic); Petr RIHA (203 Czech Republic); Marcela VLKOVÁ (203 Czech Republic, belonging to the institution); Petr BEJDÁK (203 Czech Republic, belonging to the institution); Magdalena HAVLISOVA (203 Czech Republic); Eva FRONKOVA (203 Czech Republic); Tomas KALINA (203 Czech Republic); Viktor BÍLY (703 Slovakia, belonging to the institution); Dita RICNA (203 Czech Republic); Hana GROMBIŘÍKOVÁ (203 Czech Republic, belonging to the institution); Petr SEDLACEK (203 Czech Republic); Jiří LITZMAN (203 Czech Republic, belonging to the institution); Tomáš FREIBERGER (203 Czech Republic, belonging to the institution); Anna SEDIVA (203 Czech Republic) and Adam KLOCPERK (203 Czech Republic)

Edition

PEDIATRIC ALLERGY AND IMMUNOLOGY, Hoboken, WILEY, 2025, 0905-6157

Other information

Language

English

Type of outcome

Article in a journal

Field of Study

30102 Immunology

Country of publisher

United States of America

Confidentiality degree

is not subject to a state or trade secret

References:

URL

Impact factor

Impact factor: 4.300 in 2023

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1111/pai.70100

UT WoS

001480963600001

EID Scopus

2-s2.0-105004453491

Keywords in English

agammaglobulinemia; dried blood spot; IGLL1; KREC; SCID; screening; severe combined immunodeficiency; TREC; XLA

Abstract

V originále

BackgroundSevere combined immunodeficiency (SCID) is a fatal but treatable inborn error of immunity (IEI). Newborn screening (NBS) using T-cell receptor excision circles (TREC) has been adopted globally, with very few countries incorporating kappa recombination excision circles (KREC) to also detect early B-cell development disorders, such as X-linked agammaglobulinemia (XLA).ObjectiveTo evaluate the effectiveness of a 2-year pilot SCID NBS program in the Czech Republic, emphasising the utility of combined TREC/KREC screening.MethodsBetween January 2022 and December 2023, a dual TREC/KREC NBS pilot was conducted across the Czech Republic, alongside spinal muscular atrophy (SMA) screening. Approximately 200,000 newborns were screened using quantitative real-time PCR on dried blood spots collected 48-72 h after birth.ResultsThe pilot referred 58 newborns, identifying 21 cases of IEI, including two SCID cases, with an overall incidence of TREC/KREC screenable IEI of 10.5/100,000 newborns. SCID incidence was 1/100,000. KREC screening proved invaluable, detecting 10 cases of congenital agammaglobulinemia including novel non-XLA forms, which increased the estimated incidence of agammaglobulinemia in the Czech Republic sixfold. Over one-third of low KREC results were linked to maternal immunosuppression.ConclusionThe Czech pilot demonstrated the effectiveness of integrated TREC/KREC NBS in detecting both T- and B-cell immunodeficiencies. As of 2024, SCID and SMA screening are included in the nationwide NBS, with KREC screening significantly improving early detection of B-cell disorders.

Links

MUNI/A/1566/2023, interní kód MU

Name: Patogeneze imunopatologických chorob

Investor: Masaryk University, pathogenesis of immunopathological diseases

Cite

BLOOMFIELD, Marketa; Eva HLAVÁČKOVÁ; Helena SCHNEIDEROVÁ; Marek TURNOVEC; Lukas TICHY; Zbynek CECH; Petr CHRASTINA; Lenka DVORAKOVA; Karolina PESKOVA; Renata FORMANKOVA; Petr RIHA; Marcela VLKOVÁ; Petr BEJDÁK; Magdalena HAVLISOVA; Eva FRONKOVA; Tomas KALINA; Viktor BÍLY; Dita RICNA; Hana GROMBIŘÍKOVÁ; Petr SEDLACEK; Jiří LITZMAN; Tomáš FREIBERGER; Anna SEDIVA and Adam KLOCPERK. Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme. PEDIATRIC ALLERGY AND IMMUNOLOGY. Hoboken: WILEY, 2025, vol. 36, No 5, p. 1-11. ISSN 0905-6157. Available from: https://dx.doi.org/10.1111/pai.70100.

@article{2501063,
   author = {Bloomfield, Marketa and Hlaváčková, Eva and Schneiderová, Helena and Turnovec, Marek and Tichy, Lukas and Cech, Zbynek and Chrastina, Petr and Dvorakova, Lenka and Peskova, Karolina and Formankova, Renata and Riha, Petr and Vlková, Marcela and Bejdák, Petr and Havlisova, Magdalena and Fronkova, Eva and Kalina, Tomas and Bíly, Viktor and Ricna, Dita and Grombiříková, Hana and Sedlacek, Petr and Litzman, Jiří and Freiberger, Tomáš and Sediva, Anna and Klocperk, Adam},
   article_location = {Hoboken},
   article_number = {5},
   doi = {http://dx.doi.org/10.1111/pai.70100},
   keywords = {agammaglobulinemia; dried blood spot; IGLL1; KREC; SCID; screening; severe combined immunodeficiency; TREC; XLA},
   language = {eng},
   issn = {0905-6157},
   journal = {PEDIATRIC ALLERGY AND IMMUNOLOGY},
   title = {Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme},
   url = {https://onlinelibrary.wiley.com/doi/10.1111/pai.70100},
   volume = {36},
   year = {2025}
}

TY  - JOUR
ID  - 2501063
AU  - Bloomfield, Marketa - Hlaváčková, Eva - Schneiderová, Helena - Turnovec, Marek - Tichy, Lukas - Cech, Zbynek - Chrastina, Petr - Dvorakova, Lenka - Peskova, Karolina - Formankova, Renata - Riha, Petr - Vlková, Marcela - Bejdák, Petr - Havlisova, Magdalena - Fronkova, Eva - Kalina, Tomas - Bíly, Viktor - Ricna, Dita - Grombiříková, Hana - Sedlacek, Petr - Litzman, Jiří - Freiberger, Tomáš - Sediva, Anna - Klocperk, Adam
PY  - 2025
TI  - Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme
JF  - PEDIATRIC ALLERGY AND IMMUNOLOGY
VL  - 36
IS  - 5
SP  - 1-11
EP  - 1-11
PB  - WILEY
SN  - 09056157
KW  - agammaglobulinemia
KW  - dried blood spot
KW  - IGLL1
KW  - KREC
KW  - SCID
KW  - screening
KW  - severe combined immunodeficiency
KW  - TREC
KW  - XLA
UR  - https://onlinelibrary.wiley.com/doi/10.1111/pai.70100
N2  - BackgroundSevere combined immunodeficiency (SCID) is a fatal but treatable inborn error of immunity (IEI). Newborn screening (NBS) using T-cell receptor excision circles (TREC) has been adopted globally, with very few countries incorporating kappa recombination excision circles (KREC) to also detect early B-cell development disorders, such as X-linked agammaglobulinemia (XLA).ObjectiveTo evaluate the effectiveness of a 2-year pilot SCID NBS program in the Czech Republic, emphasising the utility of combined TREC/KREC screening.MethodsBetween January 2022 and December 2023, a dual TREC/KREC NBS pilot was conducted across the Czech Republic, alongside spinal muscular atrophy (SMA) screening. Approximately 200,000 newborns were screened using quantitative real-time PCR on dried blood spots collected 48-72 h after birth.ResultsThe pilot referred 58 newborns, identifying 21 cases of IEI, including two SCID cases, with an overall incidence of TREC/KREC screenable IEI of 10.5/100,000 newborns. SCID incidence was 1/100,000. KREC screening proved invaluable, detecting 10 cases of congenital agammaglobulinemia including novel non-XLA forms, which increased the estimated incidence of agammaglobulinemia in the Czech Republic sixfold. Over one-third of low KREC results were linked to maternal immunosuppression.ConclusionThe Czech pilot demonstrated the effectiveness of integrated TREC/KREC NBS in detecting both T- and B-cell immunodeficiencies. As of 2024, SCID and SMA screening are included in the nationwide NBS, with KREC screening significantly improving early detection of B-cell disorders.
ER  -

BLOOMFIELD, Marketa; Eva HLAVÁČKOVÁ; Helena SCHNEIDEROVÁ; Marek TURNOVEC; Lukas TICHY; Zbynek CECH; Petr CHRASTINA; Lenka DVORAKOVA; Karolina PESKOVA; Renata FORMANKOVA; Petr RIHA; Marcela VLKOVÁ; Petr BEJDÁK; Magdalena HAVLISOVA; Eva FRONKOVA; Tomas KALINA; Viktor BÍLY; Dita RICNA; Hana GROMBIŘÍKOVÁ; Petr SEDLACEK; Jiří LITZMAN; Tomáš FREIBERGER; Anna SEDIVA and Adam KLOCPERK. Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme. \textit{PEDIATRIC ALLERGY AND IMMUNOLOGY}. Hoboken: WILEY, 2025, vol.~36, No~5, p.~1-11. ISSN~0905-6157. Available from: https://dx.doi.org/10.1111/pai.70100.

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