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01-10-2021 | Neonatal Screening | Original Article

TREC/KREC levels in children with ataxia-telangiectasia

Authors: Oksana Boyarchuk, Halyna Makukh, Larysa Kostyuchenko, Nataliya Yarema, Ivanna Haiboniuk, Volodymyr Kravets, Oleksandra Shulhai, Bohdan Tretyak

Published in: Immunologic Research | Issue 5/2021

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.

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Title: TREC/KREC levels in children with ataxia-telangiectasia
Authors: Oksana Boyarchuk
Halyna Makukh
Larysa Kostyuchenko
Nataliya Yarema
Ivanna Haiboniuk
Volodymyr Kravets
Oleksandra Shulhai
Bohdan Tretyak
Publication date: 01-10-2021
Publisher: Springer US
Keywords: Neonatal Screening
Polymerase Chain Reaction
Published in: Immunologic Research / Issue 5/2021
Print ISSN: 0257-277X
Electronic ISSN: 1559-0755
DOI: https://doi.org/10.1007/s12026-021-09216-1

At a glance: The STEP trials

Springer Medicine

TREC/KREC levels in children with ataxia-telangiectasia

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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