Determining T and B Cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controls.

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Şentürk G., Ng Y. Y., Eltan S. B., Başer D., Ogulur I., Altındirek D., ...Daha Fazla

Scandinavian journal of immunology, cilt.95, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 95
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1111/sji.13130
  • Dergi Adı: Scandinavian journal of immunology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Anahtar Kelimeler: kappa-deleting excision circle, newborn screening, primary immune deficiency, recent thymic emigrants, T cell receptor excision circle, THYMIC EMIGRANTS, EXCISION CIRCLES, NEWBORN, RECOMBINATION, DISEASES, RECEPTOR
  • İstanbul Üniversitesi Adresli: Evet

Özet

T cell receptor excision circles (TRECs) and kappa-deleting excision circles (KRECs) are DNA fragments potentially indicative of T and B cell development, respectively. Recent thymic emigrants (RTEs) are a subset of peripheral cellsthat may also represent thymic function. Here, we investigated TREC/KREC copy numbers by quantitative real-time PCR in the peripheral blood of patients with primary immunodeficiencies (PIDs, n = 145) and that of healthy controls (HCs, n = 86) and assessed the correlation between RTEs and TREC copy num- bers. We found that TREC copy numbers were significantly lower in children and adults with PIDs (P < .0001 and P < .002, respectively) as compared with their respective age-matched HCs. A moderate correlation was observed between TREC copies and RTE numbers among children with PID (r = .5114, P < .01), whereas no significant correlation was detected between RTE values and TREC content in the HCs (r = .0205, P = .9208). Additionally, we determined TREC and KREC copy numbers in DNA isolated from the Guthrie cards of 200 newborns and showed that this method is applicable to DNA isolated from both peripheral blood samples and dried blood spots, with the two sample types showing compa- rable TREC and KREC values. We further showed that RTE values are not always reliable markers of T cell output. Although additional confirmatory studies with larger cohorts are needed, our results provide thresholds for TREC/KREC copy numbers for different age groups.