perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2024-69-6-51-58perinatology-2090Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИORIGINAL ARTICLESПрофили TREC и KREC у пациентов с врожденными дефектами иммунитетаTREC and KREC profiles in patients with inborn errors of immunityhttps://orcid.org/0000-0002-4069-0566БарычеваЛ. Ю.BarychevaL. Yu.

Барычева Людмила Юрьевна — д.м.н., проф., зав. кафедрой иммунологии с курсом дополнительного профессионального образования

355017 Ставрополь, ул. Мира, д. 310

Stavropol

for_ludmila@inbox.ruhttps://orcid.org/0009-0008-7785-4676БачиеваЛ. И.BachievaL. I.

Бачиева Лейла Ибрагимовна — соискатель кафедры иммунологии с курсом дополнительного профессионального образования

355017 Ставрополь, ул. Мира, д. 310

Stavropol

https://orcid.org/0000-0003-0971-5347КозьмоваН. А.KozmovaN. A.

Козьмова Наталья Александровна — асс. кафедры иммунологии с курсом дополнительного профессионального образования

355017 Ставрополь, ул. Мира, д. 310

Stavropol

https://orcid.org/0000-0002-2581-6343ХачироваЛ. С.KhachirovaL. S.

Хачирова Людмила Сергеевна — доц. кафедры иммунологии с курсом дополнительного профессионального образования

355017 Ставрополь, ул. Мира, д. 310

Stavropol

https://orcid.org/0009-0003-5246-0527КузнецоваВ. В.KuznetsovaV. V.

Кузнецова Вера Валентиновна — асс. кафедры иммунологии с курсом дополнительного профессионального образования

355017 Ставрополь, ул. Мира, д. 310

Stavropol

ФГБО ВО «Ставропольский государственный медицинский университет» Минздрава РоссииРоссияStavropol State Medical UniversityRussian Federation2024020120256965158Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20242024Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/2090

Анализ TREC/KREC используется в неонатальном скрининге у новорожденных для верификации первичных иммунодефицитов с генетическими дефектами белков, ответственных за развитие Т- и В-лимфоцитов. Информативность метода для постнатальной диагностики распространенных вариантов первичных иммунодефицитов не определена. Определение TREC/KREC выполнено у 44 пациентов с подтвержденным диагнозом врожденных дефектов иммунитета методом полимеразной цепной реакции в реальном режиме времени. У 9 пациентов диагностирована комбинированная иммунная недостаточность, у 25 — комбинированный иммунодефицит с синдромальными признаками, у 5 — заболевания иммунной дисрегуляции, у 5 — дефекты антителообразования. Аномальные показатели TREC/KREC определены у 100% детей с классическими комбинированными иммунодефицитами, у 56% — с синдромальными иммунодефицитами и у 80% — с дефектами антителообразования. Уровни TREC/KREC ниже пороговых значений получены у 55,6% детей с синдромами Луи–Бар, у 40% — с синдромом ДиДжорджи, у обоих пациентов с синдромом Неймеген. Нормальные показатели TREC выявлены у 2 детей с болезнью Вискотта–Олдрича, при расстройствах иммунной регуляции, а также в единичных случаях синдромов Джоба и гипериммуноглобулинемии М. Самые низкие показатели TREC определены у пациентов с комбинированными иммунодефицитами. Полученные результаты подтверждают, что метод TREC/KREC может применяться для скрининговой постнатальной диагностики, в том числе у пациентов с поздним дебютом врожденных дефектов иммунитета.

TREC/KREC analysis is utilized in neonatal screening for the detection of primary immunodeficiencies caused by genetic defects in proteins essential for T- and B-lymphocyte development. However, the diagnostic value of this method for the postnatal detection of various primary immunodeficiency forms has not yet been fully established. This study aimed to analyze the TREC/KREC profiles in patients with confirmed inborn errors of immunity. TREC/KREC levels were assessed in 44 patients using real-time PCR at the time of diagnosis. Nine patients were diagnosed with severe combined immunodeficiency (SCID), 25 with syndromic combined immunodeficiency, five with immune dysregulation disorders, and five with antibody production defects. Abnormal TREC/KREC values were observed in 100% of children with classical SCID, 56% with syndromic immunodeficiencies, and 80% with antibody production defects. Sub-threshold TREC/KREC levels were found in 55.6% of children with Louis-Bar syndrome, 40% with DiGeorge syndrome, and both patients with Nijmegen syndrome. Normal TREC levels were observed in two children with Wiskott-Aldrich syndrome, in cases of immune regulation disorders, and in isolated cases of Job syndrome and hyper-IgM syndrome. The lowest TREC values were identified in patients with combined immunodeficiency. These findings support the potential of the TREC/KREC assay as a tool for postnatal screening, including for patients with late-onset inborn errors of immunity.

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