SIGNIFICANCE OF CONGENITAL IMMUNITY DEFECTS IN THE STUDY OF EPIDEMIOLOGY OF HUMAN INFECTIOUS AND NON-INFECTIOUS DISEASES

ABSTRACT

Primary immunodeficiencies (PID) are conditions caused by genetic defects in the immune system. Their main manifestation is an infectious syndrome (recurrent severe infections caused by common pathogens, with gross defects in immunity). However, as the PID study progressed, descriptions of patients with hypersensitivity to rare and opportunistic infections, mycobacterioses, including BCG infection, with severe/atypical course of common viral infections, including COVID-19, emerged. Due to the inability of the immune system of patients to control the oncogenic potential of various viruses, with defects in some immune mechanisms, these patients develop various tumors (Kaposi’s sarcoma, EBV-associated smooth muscle tumor) or an increase in the frequency of, for example, EBV-associated lymphomas. The creation of the Russian register of PIDs makes it possible to predict the development of certain rare/opportunistic infectious and infectious diseases in the Russian Federation. The most important is the prevention of the development of rare/opportunistic infections by early detection of patients with PID and their pathogenetic treatment, including immunomodulatory, replacement therapy with human normal immunoglobulin preparations, as well as radical therapy – hematopoietic stem cell transplantation. In addition, an important epidemiological aspect of the study of PID is that patients are often unable to eliminate infectious pathogens for a long time and serve as a reservoir of various infections (vaccinal and wild strains of poliomyelitis, COVID-19). © 2022, Pediatria Ltd. All rights reserved.