The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10293152" target="_blank" >RIV/00064203:_____/14:10293152 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/14:10293152 RIV/00216224:14740/14:00079775 RIV/00216208:11120/14:43909171 RIV/00209775:_____/14:#0000282
Result on the web
<a href="http://dx.doi.org/10.1371/journal.pone.0114514" target="_blank" >http://dx.doi.org/10.1371/journal.pone.0114514</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1371/journal.pone.0114514" target="_blank" >10.1371/journal.pone.0114514</a>

Result language
angličtina
Original language name
The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome
Original language description
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 coh
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FD - Oncology and haematology
OECD FORD branch
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Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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