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 …

More than ten years of implementation of newborn screening for severe combined
immunodeficiency (SCID) using a T-cell receptor excision circle (TREC) and in recent years …

Severe combined immunodeficiency (SCID) is a group of lifethreatening diseases, for which
early diagnostics, before the development of infectious complications, is extremely …

ABSTRACT Introduction. Ataxia-telangiectasia (AT) is a neurodegenerative disorder
characterised by progressive ataxia, telangiectasia, immunodeficiency, increased …

The immune response to the pathogen depends on the state and coordinated activity of
innate and acquired immunity. To date, the positive role of many micronutrients (vitamins …

Рання діагностика комбінованих імунодефіцитів (КІД) та вчасна терапія мають вкрай
важливе значення для подальшого життя дитини. При народженні в дітей частіше …

Materials and Methods. To prepare the review, methods of theoretical analysis and
synthesis of scientific literature were used, covering the latest achievements in the field of …

The expansion of the neonatal screening program in Ukraine from October 2022 became an
important achievement in the development of domestic medicine. Despite the severe …

Розширення програми неонатального скринінгу в Україні із жовтня 2022 року стало
вагомою подією розвитку вітчизняної медицини. Україна, незважаючи на тяжкі виклики …

The diagnosis of neutropenia is based, first of all, on the results of the assessment of the
absolute number of neutrophils in the complete blood count and the clinical picture. Genetic …