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        Expanding TREC and KREC Utility in Primary Immunodeficiency Diseases Diagnosis

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        fimmu_11_00320.pdf (PDF, 1Mb)
        503567_Korsunskiy_2020.docx (Unknown, 764Kb)
        Author
        Korsunskiy, Ilya
        Blyuss, Oleg
        Gordukova, Maria
        Davydova, Nataliia
        Zaikin, Alexey
        Zinovieva, Nataliia
        Zimin, Sergey
        Molchanov, Robert
        Salpagarova, Aminat
        Filipenko, Maxim
        Eremeeva, Alina
        Prodeus, Andrey
        Korsunskiy, Anatoliy
        Hsu, Peter
        Munblit, Daniel
        Attention
        2299/22404
        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.
        Publication date
        2020-03-03
        Published in
        Frontiers in Immunology
        Published version
        https://doi.org/10.3389/fimmu.2020.00320
        Other links
        http://hdl.handle.net/2299/22404
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