Severe combined immunodeficiency (SCID) is a group of lifethreatening diseases, for which early diagnostics, before the development of infectious complications, is extremely important. Newborn screening for SCID with T-cell receptor excision circle (TREC) and kappa-deleting recombination excision circle (KREC) assay for the identification of T- and B-lymphopenia has been implemented in a number of highly developed countries of the world. A number of studies proved the clinical and cost-effectiveness of screening for SCID by using TREC assay. However, both clinical benefits and economic costs for screening may vary depending on country and continent, requiring pilot projects to establish reference values of TREC and KREC levels for the diagnosis of SCID and other diseases associated with T- and B-lymphopenia, as well as determination of cost-effectiveness/costbenefit ratio and expediency of their further implementation. Other challenges, outlined in the article, need to be solved. The development of hematopoietic stem cell transplantation in Ukraine opens up full opportunities for the implementation of newborn screening for SCID. The expediency of conducting a pilot study to determine the most effective method (TREC or TREC/KREC) and the algorithm for SCID detection has been shown.
Keywords: diagnosis; newborn screening; severe combined immunodeficiency.
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