Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme
The 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.
Authors
- Jiří Litzman (ORCID: https://orcid.org/0000-0002-1926-5426)
- Marek Turnovec (ORCID: https://orcid.org/0000-0001-9497-3919)
- Hana Grombiříková (ORCID: https://orcid.org/0000-0002-9317-8531)
- Marcela Vlková (ORCID: https://orcid.org/0000-0003-2122-7784)
- Renata Formánková
- Anna Šedivá (ORCID: https://orcid.org/0000-0001-7730-2304)
- Magdaléna Havlišová
- Markéta Bloomfield (ORCID: https://orcid.org/0000-0001-5330-9341)
- Karolína Pešková (ORCID: https://orcid.org/0000-0002-0193-1478)
- Eva Hlaváčková (ORCID: https://orcid.org/0000-0003-0792-4567)
- Dita Říčná (ORCID: https://orcid.org/0000-0001-5972-1118)
- Tomáš Freiberger (ORCID: https://orcid.org/0000-0001-6532-7053)
- Eva Froňková (ORCID: https://orcid.org/0000-0002-6900-8145)
- Petr Bejdák
- Helena Schneiderová
- Lenka Dvořáková (ORCID: https://orcid.org/0000-0002-1620-3211)
- Petr Chrastina (ORCID: https://orcid.org/0000-0003-4404-6513)
- Petr Říha
- Adam Klocperk (ORCID: https://orcid.org/0000-0002-1526-4557)
- Tomáš Kalina (ORCID: https://orcid.org/0000-0003-4475-2872)
- Lukáš Tichý (ORCID: https://orcid.org/0000-0001-6433-0621)
- Petr Sedláček (ORCID: https://orcid.org/0000-0001-7895-2886)
- Zbyněk Čech
- Viktor Bíly
Institutions
- Charles University (CZ)
- Masaryk University (CZ)
- University Hospital in Motol (CZ)
- University Hospital Brno (CZ)
- Centrum kardiovaskulární a transplantační chirurgie (CZ)
- St. Anne's University Hospital Brno (CZ)
- General University Hospital in Prague (CZ)
Publication Details
- Journal
- Pediatric Allergy and Immunology
- Published
- 2025-05-01
- DOI
- https://doi.org/10.1111/pai.70100
- Citations
- 5
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 3.99
Funders
- Agentura Pro Zdravotnický Výzkum České Republiky
- Masarykova Univerzita
- Všeobecná Fakultní Nemocnice v Praze