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.

该研究的目的是确定被诊断患有共济失调毛细血管扩张症 (AT) 的患者的 TREC/KREC 水平，并确定其对这种病理的早期诊断的信息价值。使用实时聚合酶链反应对 25 名 3 至 14 岁诊断为 AT 的患者和 173 名 1 至 12 岁对照组健康个体的 DNA 进行 TREC 和 KREC 测定。使用他们的医疗记录确定患者的临床和实验室特征。在 AT 患者中，TRECs 的平均水平为 542.84/10 ^{6 个}细胞，范围从 4 到 4720，而 KRECs的平均水平为 1317.64/10 ^6个细胞细胞，范围从 146 到 9300。在 84% 的患者中，TREC 水平低于 1000，显着低于对照组，而 48% 的患者的 KREC 水平降低。发现 TREC 水平与 CD4 绝对值之间存在相关性（r  = 0.5455）。作为新生儿筛查的一部分，TREC/KREC 水平的测量为儿童早期 AT 检测开辟了新的机会。缩短诊断时间将允许及时进行深入的免疫学和基因检测，防止严重感染的发展，并提高生活质量。