Feasibility of neonatal screening in primary immunodeficiency diseases
I.A. Korsunskiy^1–3, M.A. Gordukova¹, A.S. Smirnova¹, D.B. Munblit², N.V. Davydova¹, I.G. Kozlov³, A.P. Prodeus^1,3, A.A. Korsunskiy^1,2, A.G. Rumyantsev<sup>3

1</sup> Children’s City Hospital № 9, Moscow
² Sechenov University, Moscow
³ Dmitry Rogachev National Research Center of Paediatric Hematology, Oncology and Immunology, Moscow

Primary immunodeficiency states are a heterogeneous group of congenital defects in the cells of the immune system, which are most often clinically manifested in recurrent infectious and autoimmune diseases of various severity, as well as malignant neoplasms. Severe forms of primary immunodeficiency lead to death in the first two years of life. Moderate forms lead to irreversible changes in the body, which significantly reduce the quality of a human life. The average age of setting an immunological diagnosis in developed countries is about 4–5 months. Most often, PIDs can be characterized by reduced functional ability of leukocytes to fight infections, however, some disorders are associated with limited differentiation of lymphoid cells or their increased apoptosis. Neonatal screening of primary immunodeficiencies helps to identify moderate to severe immune system defects prior to clinical manifestation. The outcomes of screening programs launched in different countries in recent years show high sensitivity and specificity of analysis aimed at detecting reduced TREC and KREC levels. Early detection of immunocompromised infants allows for modern approaches to treatment, improving survival rates. Early screening and intervention programmes in children with primary immunodeficiencies has also demonstrated high cost effectiveness.

Key words: primary immunodeficiencies, PIDs, neonatal screening, TREC, KREC. 
For citation: Korsunskiy I.A., Gordukova M.A., Smirnova A.S. et al. Feasibility of neonatal screening in primary immunodeficiency diseases // RMJ. 2018. № 9. P. 29–32.