Diagnostic significance of excision rings of T- and B-cell receptor gene rearrangement for the diagnosis of immune disorders in newborns

Khachirova, Lyudmila Sergeevna; Barycheva, Lyudmila; Kubanova, Leila Timurovna; Gordukova, Maria; Голубева, М В; Karaulov, Alexander

doi:10.14300/mnnc.2019.14157

Medical news of the North Caucasus

2019

DOI: 10.14300/mnnc.2019.14157

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Diagnostic significance of excision rings of T- and B-cell receptor gene rearrangement for the diagnosis of immune disorders in newborns

Lyudmila Sergeevna Khachirova¹,

Lyudmila Barycheva²,

Leila Timurovna Kubanova³

et al.

Abstract: 1 Ставропольский государственный медицинский университет, Российская федерация 2 Детская городская клиническая больница № 9 им. Г. Н. Сперанского, Москва, Российская федерация 3 первый Московский государственный медицинский университет им. И. М. Сеченова (Сеченовский университет), Российская федерация 1 stavropol state medical university, russian Federation 2 g. n. speransky children's city clinical hospital № 9, moscow, russian Federation 3 i. m. sechenov First moscow state medical university (sechenov univer… Show more

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Cited by 3 publications

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TREC and KREC profiles in patients with inborn errors of immunity

Barycheva,

Bachieva,

Kozmova

et al. 2025

Ross. vestn. perinatol. pediatr.

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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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TREC and KREC profiles in patients with inborn errors of immunity

Barycheva,

Bachieva,

Kozmova

et al. 2025

Ross. vestn. perinatol. pediatr.

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TREC as a personalized tuberculosis predictor in infants and preschool children

Smerdin¹,

Плеханова²,

Kalinina³

et al. 2023

Tihookeanskij medicinskij žurnal

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Aim. Quantitative assessment of TREC and KREC in infants and preschool children infected with tuberculosis infection (TI). Material and methods. A prospective cross-sectional study was conducted in 2022. The observation group consisted of 87 children of early childhood age in contact with TB patients, of whom 27 were diagnosed with TB, 34 were tested positive to TB based on skin tests without signs of a local specific process (TI), 26 were children without signs of tuberculosis infection according to the results of skin tests and local process (conditionally healthy children).Results. The following factors significant in the assessment of tuberculosis infection were determined: anti-tuberculosis therapy (F = 42.001; p = 0.000001); positive or negative response to the tuberculosis recombinant allergen (RTA) during an intradermal test (F = 39.394; p = 0.000001); high TREC levels in the blood (F = 12.707; p = 0.000001); the presence of a tuberculin response (F = 10.625; p = 0.000006); and KREC levels (F = 3.182; p = 0.039). Conclusions. According to the obtained results, TREC levels can be considered as a personalized risk predictor of tuberculosis infection in infants and preschool children.

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Possibilities of Immunogenetic Methods in Testing the Activity of Tuberculosis Infection in Children

Plekhanova,

Klevno,

Gordeeva

et al. 2024

Tuberk. bolezni lëgk.

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The objective: to test the TREC/KREC DNA levels in children with various manifestations of tuberculosis infection.Subjects and Methods. A prospective, cross-sectional study was conducted in 2022-2024. Observation Group consisted of 115 children aged 6 (5; 7) years, of them 25 were diagnosed with tuberculosis, 63 were diagnosed with latent tuberculosis infection, 27 were not infected with Mycobacterium tuberculosis (conditionally healthy). Results. Findings of the study were as follows: among children with LTBI and a positive response to TRA, only 18.2% had the high TREC DNA concentration which corresponded to the level in the children ill with tuberculosis (t = 0.971; p = 0.342), there was a direct relationship between the TREC DNA and KREC DNA levels in children with LTBI; in 21.2% of children the level was low and indicative of immunodeficiency. If the positive response to TRA persisted in children for two years or more, there was a decrease in the average TREC DNA level, which was statistically significant compared to that in children with TRA+ for less than 2 years. Taking into account the results obtained, the TREC DNA level in children with LTBI can be considered as an additional criterion to assess activity of tuberculosis infection and can be an evidence to justify preventive anti-tuberculosis therapy if studied further. We also found a direct correlation between the TREC and KREC DNA levels in children with LTBI, r = 0.48 (by Spearman). When the positive response to TRA persisted for more than two years, a statistically significant decrease in the TREC DNA level was noted versus the results in children with the first positive response to TRA (t = 2.965; p = 0.005).Conclusion. Taking into account the results obtained, the TREC DNA level in patients with various manifestations of tuberculosis infection can be considered as an additional criterion of infection activity, which will allow differentiated approach to preventive treatment being an important evidence to justify anti-tuberculosis therapy.

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Diagnostic significance of excision rings of T- and B-cell receptor gene rearrangement for the diagnosis of immune disorders in newborns

Cited by 3 publications

References 13 publications

TREC and KREC profiles in patients with inborn errors of immunity

TREC and KREC profiles in patients with inborn errors of immunity

TREC as a personalized tuberculosis predictor in infants and preschool children

Possibilities of Immunogenetic Methods in Testing the Activity of Tuberculosis Infection in Children

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