Importance of TREC and KREC as molecular markers for immunological evaluation of down syndrome children

Recurrent and severe infections occurred in children with Down Syndrome (DS) due to immunological parameter defects have been reported. The aim of the study is to evaluate the importance of using T-cell receptor excision circle (TREC) and kappa-deleting recombination excision circle (KREC) as molecu...

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Bibliographic Details
Published in:Scientific reports 2023-09, Vol.13 (1), p.15445-15445, Article 15445
Main Authors: Eissa, Eman, Afifi, Hanan H., Abo-Shanab, Assem M., Thomas, Manal M., Taher, Mohamed B., Kandil, Rania, Kholoussi, Naglaa M.
Format: Article
Language:English
Subjects:
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Children
Copy number
Cytotoxicity
Down syndrome
Down's syndrome
Flow cytometry
Humanities and Social Sciences
Immunoglobulin A
Immunoglobulin G
Immunoglobulin M
Immunology
Lymphocytes
Lymphocytes B
Lymphocytes T
multidisciplinary
Natural killer cells
Peripheral blood
Recombination
Science
Science (multidisciplinary)
Subpopulations
T cell receptors
Trisomy
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Summary:Recurrent and severe infections occurred in children with Down Syndrome (DS) due to immunological parameter defects have been reported. The aim of the study is to evaluate the importance of using T-cell receptor excision circle (TREC) and kappa-deleting recombination excision circle (KREC) as molecular markers for immunological investigation of children with DS. The study included 40 non-disjunction trisomy 21 confirmed DS children, and 25 healthy controls. Peripheral blood (PB) was analyzed for lymphocyte subpopulations by flow cytometry, serum immunoglobulin levels, and TREC and KREC copy numbers using quantitative real-time PCR. DS patients showed significantly lower absolute counts of PB T lymphocytes, T helper lymphocytes, T cytotoxic lymphocytes, B lymphocytes, and Natural killer cells, and lower serum IgA, IgG, and IgM levels compared to healthy controls. Copy number of TREC and KREC showed no significant differences between DS patients and healthy controls. There is a significant positive correlation between TREC copy number with a percentage and absolute count of helper T lymphocytes in patients. Also, the KREC copy number was significantly negatively correlated with the age of patients. These findings suggest that copy numbers of TREC and KREC could be useful as molecular markers for immunological evaluation of patients with DS.
ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-023-42370-0