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Expanding TREC and KREC Utility in Primary Immunodeficiency Diseases Diagnosis

Korsunskiy, I; Blyuss, O; Gordukova, M; Davydova, N; Zaikin, A; Zinovieva, N; Zimin, S; ... Munblit, D; + view all (2020) Expanding TREC and KREC Utility in Primary Immunodeficiency Diseases Diagnosis. Frontiers in Immunology , 11 , Article 320. 10.3389/fimmu.2020.00320. Green open access

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Abstract

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.

Type: Article
Title: Expanding TREC and KREC Utility in Primary Immunodeficiency Diseases Diagnosis
Location: Switzerland
Open access status: An open access version is available from UCL Discovery
DOI: 10.3389/fimmu.2020.00320
Publisher version: https://doi.org/10.3389/fimmu.2020.00320
Language: English
Additional information: Copyright © 2020 Korsunskiy, Blyuss, Gordukova, Davydova, Zaikin, Zinovieva, Zimin, Molchanov, Salpagarova, Eremeeva, Filipenko, Prodeus, Korsunskiy, Hsu and Munblit. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (http://creativecommons.org/licenses/by/4.0/). 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.
Keywords: KREC, PID, TREC, primary immunodeficiency diseases, primary immunodeficiency diseases diagnosis
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL EGA Institute for Womens Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL EGA Institute for Womens Health > Womens Cancer
URI: https://discovery.ucl.ac.uk/id/eprint/10094953
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