• Wen-I Lee, Jing-Long Huang, Syh-Jae Lin, Kuo-Wei Yeh, Li-Chen Chen, Liang-Shiou Ou, Tsung-Chieh Yao, Tang-Her Jaing, Ying-Fan Shih, Tzu-Ying Tseng, and Yi-Ling Lin.
• Primary Immunodeficiency Care And Research (PICAR) Institute, Chang Gung Memorial Hospital, Chang Gung University College of Medicine , Taoyuan , Taiwan.
• Ann. Med. 2014 Nov 1; 46 (7): 555-65.

BackgroundBiomarkers 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.MethodsA 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.ResultsIn 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.ConclusionThis 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.

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