Background: We present modern aspects of diagnosis of primary immunodeficiency’s (PIDs) and their clinical interpre-tation. Early diagnosis of PIDs in majority of cases leads to a stabile immune status and optimal quality of life. Still un-awareness of these disorders among family medicine physicians can lead to high degree of mortality and morbidity due to infections and other diseases. In the previous years in some countries were implemented methods for screening of newborns with the use of T-cell receptor excision circles (TRECs), κ-deleting recombination excision circles (KRECs) for diagnosis of PIDs. Methods: We performed screening of 152 patients using hemoleucogram, total serum concentration of IgM, IgG, IgA, IgE with appreciation of populations and subpopulations of lymphocytes and interleukin production. We implemented an algorithm for diagnosis which included genetic testing (dried blood disks subjected to real time PCR of TRECs, KRECs, developed by the University of Medicine from Novosibirsk, Russian Federation).
Results: We performed complex clinical and paraclinical examination using traditional and modern methods for diagno-sis of 152 infantile patients that were suspected to have PIDs. The results demonstrate that PIDs often are masked with dif-ferent syndromes with implication of the respiratory tract (67.1%), ear nose and throat (25.9%) with modifications of im-mune status. Immunological and genetic tests confirmed 7 cases of PIDs (2 – Bruton disease, 1 – Wiscott–Aldrich, 1 – Louis–Bar, 1– Severe combined immunodeficiency, 1 – selective IgA deficit, 1 – Di George syndrome). Conclusions: Quantitative analysis methods of DNA molecules of dried blood disks subjected to real time PCR of TRECs, KRECs is specific and acceptable for screening of newborns with PIDs.