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Review Article

SRP. 2020; 11(6): 74-80

Regulatory and Legal Regulation of Assistance and Social Aspects of Medical Maintenance of Patients with Inborn Errors of Immunity: Case Study

E.V. Zaitseva, A.V. Nechkin.

Inborn errors of immunity (IEI) (primary immunodeficiency disorders [PIDs]) represent a group of more than 450 different diseases caused by defects in some components of the immune system. Together, they represent an important group of diseases that, if untreated, take a chronic nature, last for all life, and are characterized by a severe course with fatal consequences. In the case of untimely or incorrect diagnosis of these diseases, the life and health of patients depend on the quality and timeliness of the assistance provided. On the other hand, the absence of well-functioning mechanisms for accompanying such patients places a heavy burden on the healthcare system resources.
In this regard, the authors made an attempt to analyze the legal regulation and social conditions of medical support for patients with IEI, including the article reflects the results of a survey of patients with IEI living in the Sverdlovsk region. Analysis of the results shows that this group of patients is experiencing serious difficulties with the disease diagnosis, prescribing disability, including obtaining adequate medical support because of the imperfection of Russian legislation.

Key words: Inborn errors of immunity, Primary immunodeficiency disorder, Orphan disease, Legal regulation, Medical care

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