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

Varování

Publikace nespadá pod Ústav výpočetní techniky, ale pod Lékařskou fakultu. Oficiální stránka publikace je na webu muni.cz.

Autoři	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
Rok publikování	2025
Druh	Článek v odborném periodiku
Časopis / Zdroj	PEDIATRIC ALLERGY AND IMMUNOLOGY
Fakulta / Pracoviště MU	Lékařská fakulta
Citace
www	https://onlinelibrary.wiley.com/doi/10.1111/pai.70100
Doi	http://dx.doi.org/10.1111/pai.70100
Klíčová slova	agammaglobulinemia; dried blood spot; IGLL1; KREC; SCID; screening; severe combined immunodeficiency; TREC; XLA
Popis	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.
Související projekty:	Patogeneze imunopatologických chorob