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 a Anna ŠEDIVÁ. The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome. Plos one. San Francisco: Public Library of Science, roč. 9, č. 12, s. "nestránkováno", 13 s. ISSN 1932-6203. doi:10.1371/journal.pone.0114514. 2014. |
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@article{1231783, author = {Froňková, Eva and Klocperk, Adam and Svatoň, Michael and Nováková, Michaela and Kotrová, Michaela and Kayserová, Jana and Kallna, Tomáš and Keslová, Petra and Votava, Filip and Vinohradská, Hana and Freiberger, Tomáš and Mejstriková, Eva and Trka, Jan and Šedivá, Anna}, article_location = {San Francisco}, article_number = {12}, doi = {http://dx.doi.org/10.1371/journal.pone.0114514}, keywords = {T-CELL-RECEPTOR; MINIMAL RESIDUAL DISEASE; DELETION SYNDROME; EXCISION CIRCLES; THYMIC OUTPUT; IMMUNODEFICIENCY; TRANSPLANTATION; PROLIFERATION; REPERTOIRES; CHILDREN}, language = {eng}, issn = {1932-6203}, journal = {Plos one}, title = {The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome}, url = {http://www.plosone.org/article/fetchObject.action?uri=info:doi/10.1371/journal.pone.0114514&representation=PDF}, volume = {9}, year = {2014} }
TY - JOUR ID - 1231783 AU - Froňková, Eva - Klocperk, Adam - Svatoň, Michael - Nováková, Michaela - Kotrová, Michaela - Kayserová, Jana - Kallna, Tomáš - Keslová, Petra - Votava, Filip - Vinohradská, Hana - Freiberger, Tomáš - Mejstriková, Eva - Trka, Jan - Šedivá, Anna PY - 2014 TI - The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome JF - Plos one VL - 9 IS - 12 SP - "nestránkováno" EP - "nestránkováno" PB - Public Library of Science SN - 19326203 KW - T-CELL-RECEPTOR KW - MINIMAL RESIDUAL DISEASE KW - DELETION SYNDROME KW - EXCISION CIRCLES KW - THYMIC OUTPUT KW - IMMUNODEFICIENCY KW - TRANSPLANTATION KW - PROLIFERATION KW - REPERTOIRES KW - CHILDREN UR - http://www.plosone.org/article/fetchObject.action?uri=info:doi/10.1371/journal.pone.0114514&representation=PDF L2 - http://www.plosone.org/article/fetchObject.action?uri=info:doi/10.1371/journal.pone.0114514&representation=PDF N2 - 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. ER -
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 a Anna ŠEDIVÁ. The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome. \textit{Plos one}. San Francisco: Public Library of Science, roč.~9, č.~12, s.~''nestránkováno'', 13 s. ISSN~1932-6203. doi:10.1371/journal.pone.0114514. 2014.
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