Determining reference ranges for TREC and KREC assays in immune deficiency screening of newborns in Russian Federation

M. A. Gordukova; I. A. Korsunsky; Yu V. Chursinova; M. M. Byakhova; I. P. Oscorbin; A. P. Prodeus; M. L. Filipenko

doi:10.15789/1563-0625-2019-3-527-538

Determining reference ranges for TREC and KREC assays in immune deficiency screening of newborns in Russian Federation

Переведенное название: Определение референсных интервалов TREC и KREC для скрининга новорожденных. с иммунодефицитными состояниями в РФ

M. A. Gordukova, I. A. Korsunsky, Yu V. Chursinova, M. M. Byakhova, I. P. Oscorbin, A. P. Prodeus, M. L. Filipenko

Результат исследования: Научные публикации в периодических изданиях › статья › рецензирование

Аннотация

В настоящей работе мы использовали популяционную выборку сухих пятен крови новорожденных на картах Гатри размером 2739 индивидуальных образцов для определения референсного интервала значений молекул ДНК TREC и KREC с целью диагностики первичных иммунодефицитных состояний в неонатальном скрининге. Медиана полученных абсолютных значений TREC и KREC составила 195 (CI95%: 185-206) и 185 (CI95%: 176-197) копий на мкл, соответственно, нормированных значений для TREC - 2780 (CI95%: 2690-2840) и для KREC - 2790 (CI95%: 2700-2900) копий на 2 × 105 копий гена альбумина или 105 ядросодержащих клеток. Референсный интервал рассчитывался для 99 и 99,9 перцентилей всех величин TREC и KREC. Для фильтрации «выпадающих» значений (outliers) был применен критерий Тьюки после логарифмической трансформации данных, ввиду их несимметричного распределения. При анализе абсолютных значений (TREC/KREC на мкл крови) не было идентифицировано «выпадающих» значений TREC, для KREC из дальнейшего анализа было исключено 18 значений (от 9,8 до 13,5). В нормированных значениях TREC/KREC «выбросов» не выявлено. Полученные референсные значения TREC и KREC (на уровне 0,1 перцентиля) составили 458 и 32 на 105 ядросодержащих клеток, 23 и 17 на мкл крови новорожденных соответственно

Переведенное название	Определение референсных интервалов TREC и KREC для скрининга новорожденных. с иммунодефицитными состояниями в РФ
Язык оригинала	английский
Страницы (с-по)	527-538
Число страниц	12
Журнал	Medical Immunology (Russia)
Том	21
Номер выпуска	3
DOI	https://doi.org/10.15789/1563-0625-2019-3-527-538
Состояние	Опубликовано - 1 янв 2019

Ключевые слова

B cells
KREC
Newborn
Primary immunodeficiency (PID)
Reference intervals
Screening
T cells
TREC

ГРНТИ

34 БИОЛОГИЯ

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abstract = "In this work, we used a reference population of newborns and sampled dried blood spots on Guthrie cards of 2,739 individual samples to determine the reference intervals for TRECs and KRECs values, in order to diagnose primary immunodeficiency by means of neonatal screening. The median absolute values for TRECs and KRECs were 195 (CI95%: 185-206) and 185 (CI95%: 176-197) copies per μl, respectively; the normalized value for TRECs was 2780 (CI95%: 2690-2840), and for KRECs, 2790 (CI95%: 2700-2900) copies per 2 × 105 copies of the albumin gene or 105 cells. The reference interval was calculated for 99 and 99.9 percentiles of total TRECs and KRECs individual values. Due to asymmetric distribution of data, the outliers were filtered off, using the Tukey{\textquoteright}s criterion applied after logarithmic transformation of the data. When analyzing absolute values for TREC/KREC (per μL of blood), no “drop-down” TRECs values were identified; for KRECs, 18 experimental values were excluded from further analysis (from 9.8 to 13.5). The outlying values were not identified among the normalized values of TRECs/KRECs. The obtained reference values for TRECs and KRECs (at the 0.1 percentile level) were, respectively, 458 and 32 per 105 cells, or 23 and 17 per μl of blood samples from neonates.",

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Determining reference ranges for TREC and KREC assays in immune deficiency screening of newborns in Russian Federation. / Gordukova, M. A.; Korsunsky, I. A.; Chursinova, Yu V.; Byakhova, M. M.; Oscorbin, I. P.; Prodeus, A. P.; Filipenko, M. L.

В: Medical Immunology (Russia), Том 21, № 3, 01.01.2019, стр. 527-538.

Результат исследования: Научные публикации в периодических изданиях › статья › рецензирование

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