A clinical case of combined immunodeficiency diagnosed by TREC assay

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 disease, but from first months life CID manifests by severe infections that can impact on results further treatment. Detection T-cell lymphopenia determining number receptor excision circles (TRECs) in a dry spot after birth child formed basis newborn screening CID. KREC (kappa-deleting recombination circle) assay used detection B-cell lymphopenia. Clinical case. We report case (T-B+NK+) suspected TREC Ukraine 2.5-month-old child. Immunodeficiency was manifested complicated pneumonia at age 2 months, which had an atypical course resistant to A study detect T- B-lymphopenia using TREC/KREC twice showed zero value 3.12×105 per 106 cells, indicating Subsequent immunological studies confirmed deficiency immunity. Venous thrombosis increasing multiorgan failure led death Thus, will allow immunodeficiencies with adequate therapy measures prevent life-threatening infections, including SARS-CoV-2. The research carried out accordance principles Helsinki Declaration. informed consent patient obtained conducting studies. No conflict interests declared authors.