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Abstract
Background. Biomarkers of T-cell receptor excision circles (TRECs) and immunoglobulin κ-deleting recombination excision circles (KRECs) reflect naïve T and B cell emigrants. This study assessed the biomarkers in patients with primary immunodeficiency diseases (PIDs) to determine the lymphocyte output disturbance and the correlation to lymphocytes.
Methods. A standard plasmid was constructed to calculate TRECs and KRECs in 250 ng genomic DNA from whole blood of PIDs patients. These were correlated to naïve and memory lymphocytes for further classification and adequate treatment.
Results. In 69 studied patients, the low TRECs mainly included those with severe combined T and B immunodeficiency (SCID, 7/8), combined immunodeficiency (CID, 4/4), and common variable immunodeficiency (CVID, 6/7). The diminished KRECs was in SCID (4/8), CID (4/4), CVID (7/7), Bruton's tyrosine kinase mutation (Btk, 3/4), anti-B cell deletion (by anti-CD20 antibody in 1), and Behçet syndrome under steroid treatment (1). The TRECs and KRECs positively correlated to absolute naïve T (CD4 + CD45RA+) and naïve B (CD19 + CD27−), and to memory B (CD19 + CD27+) numbers, respectively.
Conclusion. This study validates that low TRECs and KRECs values reflect low naïve T and B lymphocytes in ‘combined immunodeficiencies’ and in some CVID patients with the potential to develop the CID phenotype.
Acknowledgements
The authors wish to thank all of the patients and their families for their co-operation, as well as their physicians for the referrals.
Declaration of interest: All of the authors declare no conflicts of interest.
This study was supported by Chang-Gung Medical Research Progress (Grant CMRPG 4B0051) and the National Science Council (Grants NSC 99-2314-B-182-003-MY3 and NSC 102-2314-B-182A-039-MY3).