Abstract
Starting Jan., 2023 the extended neonatal screening (ENS) has been carried out in Russia that includes the determination of TREC/KREС markers, which in its turn allow suspecting severe combined immunodeficiency (SCID), phenotypical T-cell immunodeficiencies and X-linked agammaglobulinemia (XLA) prior to possible development of severe infectious complications. The purpose of the research was to evaluate the results of ENS for congenital immunodeficiency disorders (CIDs) in newborns in Moscow and to subsequently identify the most problematic issues in organizing of its implementation. Materials and methods used: the study was conducted in the Morozov Children's City Clinical Hospital (Moscow, Russia) among the 116,584 children born in Moscow in Jan. 01-Dec. 31, 2023 (this was the first year since the ENS introduction in Moscow) with a decrease in TREC/KREC below 100 copies per 105. Results: a total of 14 patients with CIDs were identified, of which 4 patients had a genetically confirmed form of SCID; 2 patients with immunophenotype of SCID; 3 patients with XLA; 2 patients with DiGeorge syndrome; single patient with a syndrome associated with a mutation in the PI4KA gene; and 2 patients with syndromic pathology without genetic confirmation. Thus, the frequency of detection of patients with the immunophenotype of SCID was a single case per 19,430 children, the frequency of patients with XLA was 1:38,861. 5 of 14 had already received hematopoietic stem cell transplantation, single patient was preparing for it at the time of the manuscript finalization. All of the patients receive regular immunoglobulin replacement therapy. Conclusion: the experience of an integrated approach to the provision of medical care based on neonatal screening in a municipal children's multidisciplinary hospital is presented; the results of the study helped identifying organizational shortcomings and determined the vector for its further development in order to improving of medical care provision to children with CIDs.
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