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. 2021 Oct;69(5):436-444.
doi: 10.1007/s12026-021-09216-1. Epub 2021 Aug 24.

TREC/KREC levels in children with ataxia-telangiectasia

Oksana Boyarchuk  1 , Halyna Makukh  2   3 , Larysa Kostyuchenko  4 , Nataliya Yarema  5 , Ivanna Haiboniuk  2 , Volodymyr Kravets  3 , Oleksandra Shulhai  5 , Bohdan Tretyak  2
Affiliations

TREC/KREC levels in children with ataxia-telangiectasia

Oksana Boyarchuk et al. Immunol Res. 2021 Oct.

Abstract

The aim of the study was to determine the TREC/KREC levels in the patients diagnosed with ataxia-telangiectasia (AT) and to establish their informative value for early diagnosis of this pathology. TRECs and KREC assay was performed using real-time polymerase chain reaction on the DNA of 25 patients diagnosed with AT aged 3 to 14 years and of 173 healthy individuals of the control group aged 1 to 12 years. Clinical and laboratory characteristics of patients were ascertained using their medical records. In the patients with AT, the mean level of TRECs was 542.84 per 106 cells, ranging from 4 to 4720, while mean level of KRECs was 1317.64 per 106 cells, ranging from 146 to 9300. In 84% of the patients, TREC levels were less than 1000, which was significantly lower than in the control group, while KREC levels were reduced in 48% of the patients. A correlation was found between the levels of TREC and the absolute values of CD4 (r = 0.5455). Measurement of TREC/KREC levels opens new opportunities for early AT detection in children as a part of the newborn screening. Reduced time to diagnosis will allow to carry out timely in-depth immunological and genetic testing, prevent the development of severe infections, and improve quality of life.

Keywords: Ataxia-telangiectasia; Diagnosis; Newborn screening; TREC/KREC.

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