Клінічний випадок комбінованого імунодефіциту, діагностованого за допомогою визначення TREC

Abstract

Early diagnosis and timely treatment of combined immunodeficiency (CID) is extremely important for the child’s future life. At birth, children often have no specific signs of the disease, but from the first months of life CID manifests by severe infections that can impact on the results of further treatment. Detection of T-cell lymphopenia by determining the number of T-cell receptor excision circles (TRECs) in a dry spot after the birth of a child formed the basis for newborn screening for severe CID. KREC (kappa-deleting recombination excision circle) assay is used for detection of B-cell lymphopenia. Clinical case. We report the first case of CID (T-B+NK+) suspected by detection of TREC in Ukraine in a 2.5-month-old child. Immunodeficiency was manifested by severe complicated pneumonia at the age of 2 months, which had an atypical course and was resistant to treatment. A screening study to detect T- and B-lymphopenia using the TREC/KREC assay twice showed a zero TREC value and a KREC number of 3.12×105 per 106 cells, indicating severe CID. Subsequent immunological studies confirmed the deficiency of T-cell immunity. Venous thrombosis and increasing multiorgan failure led to the death of the child. Thus, newborn screening using TREC assay will allow the timely detection of severe combined immunodeficiencies with further adequate therapy and measures to prevent life-threatening infections, including SARS-CoV-2. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.