Diagnostic significance of determining TREC and KREC T- and B-cell receptor rearrangement products in patients with inborn immune errors

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.

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