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, 2014, roč. 9, č. 12, s. "nestránkováno", 13 s. ISSN 1932-6203. doi:10.1371/journal.pone.0114514.
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Základní údaje
Originální název The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome
Autoři FROŇKOVÁ, Eva (203 Česká republika), Adam KLOCPERK (203 Česká republika), Michael SVATOŇ (203 Česká republika), Michaela NOVÁKOVÁ (203 Česká republika), Michaela KOTROVÁ (203 Česká republika), Jana KAYSEROVÁ (203 Česká republika), Tomáš KALLNA (203 Česká republika), Petra KESLOVÁ (203 Česká republika), Filip VOTAVA (203 Česká republika), Hana VINOHRADSKÁ (203 Česká republika, domácí), Tomáš FREIBERGER (203 Česká republika, domácí), Eva MEJSTRIKOVÁ (203 Česká republika), Jan TRKA (203 Česká republika) a Anna ŠEDIVÁ (203 Česká republika).
Vydání Plos one, San Francisco, Public Library of Science, 2014, 1932-6203.
Další údaje
Originální jazyk angličtina
Typ výsledku Článek v odborném periodiku
Obor 30102 Immunology
Stát vydavatele Spojené státy
Utajení není předmětem státního či obchodního tajemství
WWW URL
Impakt faktor Impact factor: 3.234
Kód RIV RIV/00216224:14740/14:00079775
Organizační jednotka Středoevropský technologický institut
Doi http://dx.doi.org/10.1371/journal.pone.0114514
UT WoS 000346907600065
Klíčová slova anglicky T-CELL-RECEPTOR; MINIMAL RESIDUAL DISEASE; DELETION SYNDROME; EXCISION CIRCLES; THYMIC OUTPUT; IMMUNODEFICIENCY; TRANSPLANTATION; PROLIFERATION; REPERTOIRES; CHILDREN
Štítky kontrola MP, MP, podil, rivok
Příznaky Mezinárodní význam, Recenzováno
Změnil Změnila: Martina Prášilová, učo 342282. Změněno: 17. 4. 2015 11:28.
Anotace
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.
VytisknoutZobrazeno: 5. 7. 2022 00:48