KFU. Card publication. DIAGNOSTIC SIGNIFICANCE OF DETERMINING TREC AND KREC T- AND B-CELL RECEPTOR REARRANGEMENT PRODUCTS IN PATIENTS WITH INBORN IMMUNE ERRORS

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DIAGNOSTIC SIGNIFICANCE OF DETERMINING TREC AND KREC T- AND B-CELL RECEPTOR REARRANGEMENT PRODUCTS IN PATIENTS WITH INBORN IMMUNE ERRORS

Form of presentation

Articles in international journals and collections

Year of publication

2023

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Authors, employees of KFU

Skibo Yuliya Valerevna, author

Bibliographic description in the original language

Polyakova E.A, Stegantseva M.V, Guryanova I.E, DIAGNOSTIC SIGNIFICANCE OF DETERMINING TREC AND KREC T- AND B-CELL RECEPTOR REARRANGEMENT PRODUCTS IN PATIENTS WITH INBORN IMMUNE ERRORS//Proceedings of the National Academy of Sciences of Belarus, Medical Series. - 2023. - Vol.20, Is.3. - P.226-235.

Annotation

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.

Keywords

TREC, KREC, primary immunodeficiencies, real-time polymerase chain reaction, ROC assay, diagnostic significans

The name of the journal

Proceedings of the National Academy of Sciences of Belarus, Medical Series

URL

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85175482672&doi=10.29235%2f1814-6023-2023-20-3-226-235&partnerID=40&md5=66546442c5fd2f3047efa2c0a3034a6f

Please use this ID to quote from or refer to the card

https://repository.kpfu.ru/eng/?p_id=293395&p_lang=2

Full metadata record

Field DC	Value	Language
dc.contributor.author	Skibo Yuliya Valerevna	ru_RU
dc.date.accessioned	2023-01-01T00:00:00Z	ru_RU
dc.date.available	2023-01-01T00:00:00Z	ru_RU
dc.date.issued	2023	ru_RU
dc.identifier.citation	Polyakova E.A, Stegantseva M.V, Guryanova I.E, DIAGNOSTIC SIGNIFICANCE OF DETERMINING TREC AND KREC T- AND B-CELL RECEPTOR REARRANGEMENT PRODUCTS IN PATIENTS WITH INBORN IMMUNE ERRORS//Proceedings of the National Academy of Sciences of Belarus, Medical Series. - 2023. - Vol.20, Is.3. - P.226-235.	ru_RU
dc.identifier.uri	https://repository.kpfu.ru/eng/?p_id=293395&p_lang=2	ru_RU
dc.description.abstract	Proceedings of the National Academy of Sciences of Belarus, Medical Series	ru_RU
dc.description.abstract	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.	ru_RU
dc.language.iso	ru	ru_RU
dc.subject	TREC	ru_RU
dc.subject	KREC	ru_RU
dc.subject	primary immunodeficiencies	ru_RU
dc.subject	real-time polymerase chain reaction	ru_RU
dc.subject	ROC assay	ru_RU
dc.subject	diagnostic significans	ru_RU
dc.title	DIAGNOSTIC SIGNIFICANCE OF DETERMINING TREC AND KREC T- AND B-CELL RECEPTOR REARRANGEMENT PRODUCTS IN PATIENTS WITH INBORN IMMUNE ERRORS	ru_RU
dc.type	Articles in international journals and collections	ru_RU