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Expanding TREC and KREC Utility in Primary Immunodeficiency Diseases Diagnosis

Primary immunodeficiency diseases (PID) area heterogeneous group of disorders caused by genetic defects of the immune system, which manifest clinically as recurrent infections, autoimmune diseases or malignancies. Early detection of PID remains a challenge, particularly in older children with milder...

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Autores principales: Korsunskiy, Ilya, Blyuss, Oleg, Gordukova, Maria, Davydova, Natalia, Zaikin, Alexey, Zinovieva, Natalia, Zimin, Sergey, Molchanov, Robert, Salpagarova, Aminat, Eremeeva, Alina, Filipenko, Maxim, Prodeus, Andrey, Korsunskiy, Anatoliy, Hsu, Peter, Munblit, Daniel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7062706/
https://www.ncbi.nlm.nih.gov/pubmed/32194560
http://dx.doi.org/10.3389/fimmu.2020.00320
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author Korsunskiy, Ilya
Blyuss, Oleg
Gordukova, Maria
Davydova, Natalia
Zaikin, Alexey
Zinovieva, Natalia
Zimin, Sergey
Molchanov, Robert
Salpagarova, Aminat
Eremeeva, Alina
Filipenko, Maxim
Prodeus, Andrey
Korsunskiy, Anatoliy
Hsu, Peter
Munblit, Daniel
author_facet Korsunskiy, Ilya
Blyuss, Oleg
Gordukova, Maria
Davydova, Natalia
Zaikin, Alexey
Zinovieva, Natalia
Zimin, Sergey
Molchanov, Robert
Salpagarova, Aminat
Eremeeva, Alina
Filipenko, Maxim
Prodeus, Andrey
Korsunskiy, Anatoliy
Hsu, Peter
Munblit, Daniel
author_sort Korsunskiy, Ilya
collection PubMed
description Primary immunodeficiency diseases (PID) area heterogeneous group of disorders caused by genetic defects of the immune system, which manifest clinically as recurrent infections, autoimmune diseases or malignancies. Early detection of PID remains a challenge, particularly in older children with milder and less specific symptoms. This study aimed to assess TREC and KREC diagnostic ability in PID. Data from children assessed by clinical immunologists at Speransky Children's Hospital, Moscow, Russia with suspected immunodeficiencies were analyzed between May 2013 and August 2016. Peripheral blood samples were sent for TREC/KREC, flow cytometry (CD3, CD4, CD8 and CD19), IgA and IgG analysis. A total of 434 children [189 healthy, 97 with group I and II PID (combined T and B cell immunodeficiencies & well-defined syndromes with immunodeficiency) and 148 group III PID (predominantly antibody deficiencies)] were included. Area under the curve (AUC) for TREC in PID groups I and II diagnosis reached 0.82 (CI = 0.75–0.90), with best model providing sensitivity of 65% and specificity of 92%. Neither TREC, nor KREC had added value in PID group III diagnosis. In this study, the predictive value of TREC and KREC in PID diagnosis was examined. We found that the TREC had some diagnostic utility for groups I and II PID. Possibly, addition of TREC measurements to existing clinical diagnostic algorithms may improve their predictive value. Further investigations on a larger cohort are needed to evaluate TREC/KREC abilities to be used as diagnostic tools on a wider scale.
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spelling pubmed-70627062020-03-19 Expanding TREC and KREC Utility in Primary Immunodeficiency Diseases Diagnosis Korsunskiy, Ilya Blyuss, Oleg Gordukova, Maria Davydova, Natalia Zaikin, Alexey Zinovieva, Natalia Zimin, Sergey Molchanov, Robert Salpagarova, Aminat Eremeeva, Alina Filipenko, Maxim Prodeus, Andrey Korsunskiy, Anatoliy Hsu, Peter Munblit, Daniel Front Immunol Immunology Primary immunodeficiency diseases (PID) area heterogeneous group of disorders caused by genetic defects of the immune system, which manifest clinically as recurrent infections, autoimmune diseases or malignancies. Early detection of PID remains a challenge, particularly in older children with milder and less specific symptoms. This study aimed to assess TREC and KREC diagnostic ability in PID. Data from children assessed by clinical immunologists at Speransky Children's Hospital, Moscow, Russia with suspected immunodeficiencies were analyzed between May 2013 and August 2016. Peripheral blood samples were sent for TREC/KREC, flow cytometry (CD3, CD4, CD8 and CD19), IgA and IgG analysis. A total of 434 children [189 healthy, 97 with group I and II PID (combined T and B cell immunodeficiencies & well-defined syndromes with immunodeficiency) and 148 group III PID (predominantly antibody deficiencies)] were included. Area under the curve (AUC) for TREC in PID groups I and II diagnosis reached 0.82 (CI = 0.75–0.90), with best model providing sensitivity of 65% and specificity of 92%. Neither TREC, nor KREC had added value in PID group III diagnosis. In this study, the predictive value of TREC and KREC in PID diagnosis was examined. We found that the TREC had some diagnostic utility for groups I and II PID. Possibly, addition of TREC measurements to existing clinical diagnostic algorithms may improve their predictive value. Further investigations on a larger cohort are needed to evaluate TREC/KREC abilities to be used as diagnostic tools on a wider scale. Frontiers Media S.A. 2020-03-03 /pmc/articles/PMC7062706/ /pubmed/32194560 http://dx.doi.org/10.3389/fimmu.2020.00320 Text en Copyright © 2020 Korsunskiy, Blyuss, Gordukova, Davydova, Zaikin, Zinovieva, Zimin, Molchanov, Salpagarova, Eremeeva, Filipenko, Prodeus, Korsunskiy, Hsu and Munblit. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Immunology
Korsunskiy, Ilya
Blyuss, Oleg
Gordukova, Maria
Davydova, Natalia
Zaikin, Alexey
Zinovieva, Natalia
Zimin, Sergey
Molchanov, Robert
Salpagarova, Aminat
Eremeeva, Alina
Filipenko, Maxim
Prodeus, Andrey
Korsunskiy, Anatoliy
Hsu, Peter
Munblit, Daniel
Expanding TREC and KREC Utility in Primary Immunodeficiency Diseases Diagnosis
title Expanding TREC and KREC Utility in Primary Immunodeficiency Diseases Diagnosis
title_full Expanding TREC and KREC Utility in Primary Immunodeficiency Diseases Diagnosis
title_fullStr Expanding TREC and KREC Utility in Primary Immunodeficiency Diseases Diagnosis
title_full_unstemmed Expanding TREC and KREC Utility in Primary Immunodeficiency Diseases Diagnosis
title_short Expanding TREC and KREC Utility in Primary Immunodeficiency Diseases Diagnosis
title_sort expanding trec and krec utility in primary immunodeficiency diseases diagnosis
topic Immunology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7062706/
https://www.ncbi.nlm.nih.gov/pubmed/32194560
http://dx.doi.org/10.3389/fimmu.2020.00320
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