FROŇKOVÁ, Eva, Adam KLOCPERK, Michael SVATOŇ, Michaela NOVÁKOVÁ, Michaela KOTROVÁ, Jana KAYSEROVÁ, Tomáš KALLNA, Petra KESLOVÁ, Filip VOTAVA, Hana VINOHRADSKÁ, Tomáš FREIBERGER, Eva MEJSTRIKOVÁ, Jan TRKA and Anna ŠEDIVÁ. The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome. Plos one. San Francisco: Public Library of Science, 2014, vol. 9, No 12, p. "nestránkováno", 13 pp. ISSN 1932-6203. doi:10.1371/journal.pone.0114514.
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Basic information
Original name The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome
Authors FROŇKOVÁ, Eva (203 Czech Republic), Adam KLOCPERK (203 Czech Republic), Michael SVATOŇ (203 Czech Republic), Michaela NOVÁKOVÁ (203 Czech Republic), Michaela KOTROVÁ (203 Czech Republic), Jana KAYSEROVÁ (203 Czech Republic), Tomáš KALLNA (203 Czech Republic), Petra KESLOVÁ (203 Czech Republic), Filip VOTAVA (203 Czech Republic), Hana VINOHRADSKÁ (203 Czech Republic, belonging to the institution), Tomáš FREIBERGER (203 Czech Republic, belonging to the institution), Eva MEJSTRIKOVÁ (203 Czech Republic), Jan TRKA (203 Czech Republic) and Anna ŠEDIVÁ (203 Czech Republic).
Edition Plos one, San Francisco, Public Library of Science, 2014, 1932-6203.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30102 Immunology
Country of publisher United States of America
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 3.234
RIV identification code RIV/00216224:14740/14:00079775
Organization unit Central European Institute of Technology
UT WoS 000346907600065
Tags kontrola MP, MP, podil, rivok
Tags International impact, Reviewed
Changed by Changed by: Martina Prášilová, učo 342282. Changed: 17. 4. 2015 11:28.
DiGeorge syndrome (DGS) presents with a wide spectrum of thymic pathologies. Nationwide neonatal screening programs of lymphocyte production using T-cell recombination excision circles (TREC) have repeatedly identified patients with DGS. We tested what proportion of DGS patients could be identified at birth by combined TREC and kappa-deleting element recombination circle (KREC) screening. Furthermore, we followed TREC/KREC levels in peripheral blood (PB) to monitor postnatal changes in lymphocyte production. Methods: TREC/KREC copies were assessed by quantitative PCR (qPCR) and were related to the albumin control gene in dry blood spots (DBSs) from control (n=56), severe immunodeficiency syndrome (SCID, n=10) and DGS (n=13) newborns. PB was evaluated in DGS children (n=32), in diagnostic samples from SCID babies (n=5) and in 91 controls. Results: All but one DGS patient had TREC levels in the normal range at birth, albeit quantitative TREC values were significantly lower in the DGS cohort. One patient had slightly reduced KREC at birth. Postnatal DGS samples revealed reduced TREC numbers in 5 of 32 (16%) patients, whereas KREC copy numbers were similar to controls. Both TREC and KREC levels showed a more pronounced decrease with age in DGS patients than in controls (p<0.0001 for both in a linear model). DGS patients had higher percentages of NK cells at the expense of T cells (p<0.0001). The patients with reduced TREC levels had repeated infections in infancy and developed allergy and/or autoimmunity, but they were not strikingly different from other patients. In 12 DGS patients with paired DBS and blood samples, the TREC/KREC levels were mostly stable or increased and showed similar kinetics in respective patients. Conclusions: The combined TREC/KREC approach with correction via control gene identified 1 of 13 (8%) of DiGeorge syndrome patients at birth in our cohort. The majority of patients had TREC/KREC levels in the normal range.
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