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Diagnostic significance of excision rings of T- and B-cell receptor gene rearrangement for the diagnosis of immune disorders in newborns

[Pediatrics]
Lyudmila Sergeevna Khachirova; Lyudmila Barycheva; Leila Timurovna Kubanova; Maria Alexandrovna Gordukova; Marina Golubeva; Alexander Viktorovich Karaulov;

The paper presents the results of retrospective determination of markers of T-cell (TREC) and B-cell (KREC) immunodeficiency in 49 children who died in the first year of life due to severe infections. In 11.6 % of cases, patients with clinical and pathological signs of congenital immunodeficiency showed a significant decrease in TREC and/or KREC to undetectable values. It was revealed that the decrease in the level of TREC is observed in premature infants with gestation less than 28 weeks, as well as in the group of children with congenital defects of the heart and main vessels, gastrointestinal tract, kidneys and urinary tract. A review of the data shows that the determination of TREC and KREC is an effective tool for the detection of congenital immunodeficiency and other T-cell lymphopenia requiring preventive measures to prevent serious infections.

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Keywords: congenital immunodeficiency, secondary T-cell lymphopenia, TREC, KREC


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