The importance of defining the age-specific TREC/KREC levels for detection of various inborn errors of immunity in pediatric and adult patients

Veronika Medova; Ivana Hulinkova; Nikoleta Laiferova; Veronika Urdova; Peter Ciznar; Dana Dolnikova; Veronika Krasnanova; Oksana Fabri; Andrej Ficek; Andrea Soltysova

doi:10.1016/j.clim.2022.109155

The importance of defining the age-specific TREC/KREC levels for detection of various inborn errors of immunity in pediatric and adult patients

Clin Immunol. 2022 Dec:245:109155. doi: 10.1016/j.clim.2022.109155. Epub 2022 Oct 13.

Authors

Affiliations

¹ Institute for Clinical and Translational Research, Biomedical Research Centre, Slovak Academy of Sciences, Dubravska cesta 9, 845 05 Bratislava, Slovakia.
² Department of Paediatrics, Faculty of Medicine, Comenius University and National Institute of Children's Diseases, Limbova 1, 833 40 Bratislava, Slovakia.
³ Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, 842 15 Bratislava, Slovakia.
⁴ Department of Paediatric Haematology and Oncology, Bone Marrow Transplantation Unit, Faculty of Medicine, Comenius University and National Institute of Children's Diseases, Limbova 1, 833 40 Bratislava, Slovakia.
⁵ Department of Neonatology and Intensive Medicine, Faculty of Medicine, Comenius University and National Institute of Children's Diseases, Limbova 1, 833 40 Bratislava, Slovakia.
⁶ Pediatric Cardiac Intensive Care Unit, National Institute of Cardiovascular Diseases, Pod Krasnou horkou 1, 833 48 Bratislava, Slovakia.
⁷ CATO SMS Oncology, Therapeutic Area Lead Pediatric Hematooncology, Stationsplein Noord-Oost 438, Schiphol, the Netherlands.
⁸ Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, 842 15 Bratislava, Slovakia. Electronic address: andrej.ficek@uniba.sk.
⁹ Institute for Clinical and Translational Research, Biomedical Research Centre, Slovak Academy of Sciences, Dubravska cesta 9, 845 05 Bratislava, Slovakia; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, 842 15 Bratislava, Slovakia.

PMID: 36243346
DOI: 10.1016/j.clim.2022.109155

Abstract

This study aimed to establish physiological TREC/KREC values in a healthy population of different ages to create cut-offs and analyze pediatric patients with various inborn errors of immunity. Dry blood spots and DNA samples purified from whole blood were used for TREC/KREC quantification using real-time PCR. Observed difference (p < 0.001) between methods revealed the isolation method as a factor we need to consider when determinating cut-offs. Data of 713 healthy individuals showed a negative correlation (p < 0.001) between age and TREC/KREC levels with gender difference observed only for KREC in a group of 51-60 years old (p < 0.001). The 5th percentile cut-off values were set for age groups, which allowed us to identify 25% of patients with immunodeficiencies in case of non-zero, borderline values of TREC/KREC. Screening of infants with congenital heart disease identified 11% of patients with lowered TREC/KREC and shows potential for newborn screening of specific groups of patients.

Keywords: Congenital heart diseases; KREC; Neutropenia; PIDDs; TREC.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Age Factors
B-Lymphocytes
Child
Humans
Immunologic Deficiency Syndromes* / diagnosis
Immunologic Deficiency Syndromes* / genetics
Infant
Infant, Newborn
Middle Aged
Receptors, Antigen, T-Cell* / genetics
T-Lymphocytes

Substances

Receptors, Antigen, T-Cell