2017
DOI: 10.1590/1984-0462/;2017;35;1;00013 View full text |Buy / Rent full text
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Abstract: Objective: To validate the quantification of T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs) by real-time polymerase chain reaction (qRT-PCR) for newborn screening of primary immunodeficiencies with defects in T and/or B cells in Brazil.Methods: Blood samples from newborns and controls were collected on filter paper. DNA was extracted and TRECs, and KRECs were quantified by a duplex real-time PCR. The cutoff values were determined by receiver operating charact… Show more

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“…It was especially apparent in children born <28 weeks of gestation. Such observations have been reported in several other publications ( 32 , 50 ). Regarding the KREC values, we did not notice a higher rate of KREC results below cut off in children born <28 weeks of GA.…”
Section: Discussionsupporting
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“…It was especially apparent in children born <28 weeks of gestation. Such observations have been reported in several other publications ( 32 , 50 ). Regarding the KREC values, we did not notice a higher rate of KREC results below cut off in children born <28 weeks of GA.…”
Section: Discussionsupporting
“…In groups of extremely premature and very preterm newborns, the spread of KREC values was greater than in children born ≤ 32 weeks. In a study by Kanegae et al, KREC values did not vary according to GA and in the studies by Barbaro et al and de Felipe et al KREC levels did show a downward trend with decreasing GA ( 25 , 50 ). Further evaluation is needed and may provide data to define the reason for these differences and their clinical implications.…”
Section: Discussionmentioning
“…Thus, blood was collected on Guthrie cards and TREC and KREC quantification was used to assess the numbers of naïve T and B cells of Patient 1. While TRECs were undetectable, KRECs were normal (158 molecules / μL of blood) ( 8 ), in accordance with the abnormal lymphocyte's immunophenotyping, which showed a T-B+ profile. Repeated immunophenotyping at age 11 and 12 months revealed decreasing T and NK cell numbers Table 1 .…”
Section: Case Presentationmentioning
“…Newborn screening for SCID is a reliable, cost-effective and feasible method to reach this goal ( 18 , 19 ). Recently, two articles were published reporting the results of two Brazilian pilot programs on newborn screening using TRECs ( 20 ) and then TRECs and KRECs ( 8 ), demonstrating that the technology and know-how to implement newborn screening is available in Brazil.…”
Section: Discussionmentioning
“…Нами выявлено снижение уровня TREC у недоношенных детей -127, 5 [58,4; 372,5] Снижение показателей TREC у недоношенных новорожденных подтверждено в зарубежных исследованиях [2,4,18,19]. известно, что уровни TREC во многом зависят от срока гестации и уменьшаются преимущественно у детей, рожденных до 30 недель [2-5, 18, 19].…”
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