vestimИзвестия Национальной академии наук Беларуси. Серия медицинских наукProceedings of the National Academy of Sciences of Belarus, Medical series1814-60232524-2350The Republican Unitary Enterprise Publishing House "Belaruskaya Navuka"10.29235/1814-6023-2023-20-3-226-235vestim-923Research ArticleКЛИНИЧЕСКАЯ И ЭКСПЕРИМЕНТАЛЬНАЯ МЕДИЦИНАCLINICAL AND EXPERIMENTAL MEDICINEДиагностическая значимость определения продуктов реаранжировок Т- и В-клеточных рецепторов TREC и KREC у пациентов с врожденными ошибками иммунитетаDiagnostic significance of determining TREC and KREC T- and B-cell receptor rearrangement products in patients with inborn immune errorshttps://orcid.org/0000-0002-0706-6622ПоляковаЕ. А.PolyakovaE. A.

Полякова Екатерина Александровна – научный сотрудник.

ул. Фрунзенская, 43, 223053, д. Боровляны, Минский р-н

Ekaterina A. Polyakova – Researcher, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology.

43, Frunzenskaya Str., 223053, Borovliany, Minsk region

polyakovakat86@gmail.comhttps://orcid.org/0000-0002-8692-3767СтёганцеваМ. В.StegantsevaM. V.

Стёганцева Мария Владимировна – кандидат биологических наук, ведущий научный сотрудник.

ул. Фрунзенская, 43, 223053, д. Боровляны, Минский р-н

Maria V. Stegantseva – Ph. D. (Biol.), Belarusian Research Center for Pediatric Oncology, Hematology and Immunology.

43, Frunzenskaya Str., 223053, Borovliany, Minsk region

Stsegantsevam@gmail.comhttps://orcid.org/0000-0002-9696-3949ГурьяноваИ. Е.GuryanovaI. E.

Гурьянова Ирина Евгеньевна – кандидат биологических наук, заведующий лабораторией.

ул. Фрунзенская, 43, 223053, д. Боровляны, Минский р-н

Irina E. Guryanova – Ph. D. (Biol.), Head of the Laboratory, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology.

43, Frunzenskaya Str., 223053, Borovliany, Minsk region

guryanovairina1985@gmail.comhttps://orcid.org/0000-0002-3998-8023ЛуцковичД. В.LutskovichD. V.

Луцкович Дмитрий Викторович – научный сотрудник.

ул. Фрунзенская, 43, 223053, д. Боровляны, Минский р-н

Dmitry V. Lutskovich – Researcher, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology.

43, Frunzenskaya Str., 223053, Borovliany, Minsk region

lutskovichdm@gmail.comhttps://orcid.org/0000-0002-4510-6760СкоповецЕ. Я.SkapavetsK. Y.

Cкоповец Екатерина Ярославовна – младший научный сотрудник.

ул. Фрунзенская, 43, 223053, д. Боровляны, Минский р-н

Katsiaryna Y. Skapavets – Junior Researcher, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology.

43, Frunzenskaya Str., 223053, Borovliany, Minsk region

Skopovets@yandex.ruhttps://orcid.org/0000-0002-6127-7404ЛюбушкинА. В.LiubushkinA. V.

Любушкин Александр Владимирович – младший научный сотрудник.

ул. Фрунзенская, 43, 223053, д. Боровляны, Минский р-н

Aliaksandr V. Liubushkin – Junior Researcher, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology.

43, Frunzenskaya Str., 223053, Borovliany, Minsk region

sasha36601@yandex.byhttps://orcid.org/0000-0003-1523-0725ВолодащикТ. П.VolodashchikT. P.

Володащик Татьяна Петровна – младший научный сотрудник.

ул. Фрунзенская, 43, 223053, д. Боровляны, Минский р-н

Tatiana P. Volodashchik – Junior Researcher, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology.

43, Frunzenskaya Str., 223053, Borovliany, Minsk region

tvolodashchik@gmail.comhttps://orcid.org/0000-0003-2153-3204КазакВ. И.KazakV. I.

Казак Виктория Игоревна – младший научный сотрудник.

ул. Фрунзенская, 43, 223053, д. Боровляны, Минский р-н

Victoria I. Kazak – Junior Researcher, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology.

43, Frunzenskaya Str., 223053, Borovliany, Minsk region

vk250998@gmail.comhttps://orcid.org/0000-0001-8082-2511СкибоЮ. В.SkiboYu. V.

Cкибо Юлия Валерьевна – кандидат биологических наук, старший научный сотрудник.

ул. Кремлевская, 18, Казань, Республика Татарстан

Yulia V. Skibo – Ph. D. (Biol.), Senior Researcher, Institute of Fundamental Medicine and Biology, Kazan (Privolzhsky) Federal University.

18, Kremlevskaya Str., Kazan, Republic of Tatarstan

yuliya_ksu@mail.ruhttps://orcid.org/0000-0001-9533-4705БелевцевМ. В.BelevtsevM. V.

Белевцев Михаил Владимирович – кандидат биологических наук, доцент, заместитель директора.

ул. Фрунзенская, 43, 223053, д. Боровляны, Минский р-н

Mikhail V. Belevtsev – Ph. D. (Biol.), Associate Professor, Deputy Director, Republican Research Center for Pediatric Oncology, Hematology and Immunology.

43, Frunzenskaya Str., 223053, Borovliany, Minsk region

belevtcev_m@mail.ruРеспубликанский научно-практический центр детской онкологии, гематологии и иммунологииBelarusian Research Center for Pediatric Oncology, Hematology and ImmunologyКазанский федеральный университетKazan Federal University202301092023203226235Copyright © Полякова Е.А., Стёганцева М.В., Гурьянова И.Е., Луцкович Д.В., Скоповец Е.Я., Любушкин А.В., Володащик Т.П., Казак В.И., Скибо Ю.В., Белевцев М.В., 20232023Полякова Е.А., Стёганцева М.В., Гурьянова И.Е., Луцкович Д.В., Скоповец Е.Я., Любушкин А.В., Володащик Т.П., Казак В.И., Скибо Ю.В., Белевцев М.В.Polyakova E.A., Stegantseva M.V., Guryanova I.E., Lutskovich D.V., Skapavets K.Y., Liubushkin A.V., Volodashchik T.P., Kazak V.I., Skibo Y.V., Belevtsev M.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vestimed.belnauka.by/jour/article/view/923

Врожденные ошибки иммунитета, такие как первичные иммунодефициты у детей, представляют значимую проблему для здравоохранения, поэтому исключительно важным является совершенствование лабораторной диагностики данной патологии путем создания новых, эффективных методов раннего выявления нарушений, вовлекающих иммунные механизмы.

Цель данного исследования – оценка диагностической значимости определения количества копий кольцевых фрагментов ДНК Т- и В-клеточных рецепторов (TREC и KREC) посредством мультиплексной ПЦР в режиме реального времени у пациентов с генетически установленным диагнозом «первичный иммунодефицит».

Были исследованы образцы ДНК периферической крови здоровых детей (n = 98) в возрасте 0,0 (0-15,0) года, которые составили контрольную группу, и пациентов с генетически подтвержденным первичным иммунодефицитом (n = 95) в возрасте 7,2 (0,1-18,0) года.

Согласно полученным результатам, определение количества продуктов реаранжировок Т- и В-клеточных рецепторов (TREC и KREC) обладает высокой диагностической ценностью при тяжелой комбинированной иммунной недостаточности, синдромах хромосомной нестабильности, таких как атаксия-телеангиоэктазия и синдром Ниймегена, а также при заболеваниях, связанных с иммунной дисрегуляцией, агаммоглобулинемией. Определение продуктов TREC и KREC обладает низкой информативностью, а следовательно, не имеет диагностической значимости при таких видах первичных иммунодефицитов, как синдром Вискотта-Олдрича и хроническая гранулематозная болезнь.

Таким образом, определение продуктов реаранжировок рецепторов Т- и В-лимфоцитов (TREC и KREC) обладает высокой диагностической ценностью и может быть применимо в диагностике врожденных ошибок иммунитета, связанных с Т- и В-клеточной лимфопенией.

Inborn immunity errors such as primary immunodeficiencies in children represent a significant problem for public health, and it is undeniably important to improve the laboratory diagnosis of this pathology by creating new, effective methods for early detection of disorders involving immune mechanisms.

The ROC analysis was used to evaluate the diagnostic significance of determining the copy number of T- and B-cell receptor DNA circle fragments (TREC/KREC) by multiplex real-time PCR in patients with a genetically determined diagnosis of primary immunodeficiency.

Peripheral blood DNA samples of healthy children (n = 98) aged 0.0 (0-15.0) years, who constituted the control group, and of patients with genetically confirmed primary immunodeficiency (n = 95) aged 7.2 (0.1-18.0) years were examined.

It has been established that determining the number of T and B cell receptor rearrangement products (TREC and KREC) has a high diagnostic significance in severe combined immunodeficiency, chromosomal instability syndromes such as ataxiateleangioectasia and Niimegen syndrome, diseases associated with immune dysregulation, agammoglobulinemia. Determining TREC and KREC is not informative in immunodeficiencies with non-lymphoid cell dysfunction or disorders that do not affect T- and B-cell receptor gene rearrangement such as the Wiskott-Aldrich syndrome and the chronic granulomatous disease.

Determining TREC, KREC has a high diagnostic significance and can be applied in diagnosis of congenital immunity errors associated with T- and B-cell lymphopenia.

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The authors declare that there are no conflicts of interest present.