TREC/KREC levels in children with ataxia-telangiectasia.
Immunol Res
; 69(5): 436-444, 2021 10.
Article
in En
| MEDLINE
| ID: mdl-34427868
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
DNA, Circular
/
Ataxia Telangiectasia
/
Receptors, Antigen, T-Cell
/
Biomarkers
/
Immunoglobulin kappa-Chains
Type of study:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Aspects:
Patient_preference
Limits:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
En
Journal:
Immunol Res
Journal subject:
ALERGIA E IMUNOLOGIA
Year:
2021
Document type:
Article
Affiliation country:
Ukraine