Inborn errors of immunity: features of epidemiology and continuity of medical care in the Republic of Tatarstan

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BACKGROUND: Currently, inborn errors of immunity represent one of the most interesting problems in clinical immunology. The data obtained in the field of studying pathogenetic mechanisms and clinical manifestations, expanding diagnostic capabilities, including molecular genetic methods, formed the basis for revising the classification and introducing new modern treatment methods. The study of regional characteristics of inborn errors of immunity is important because it allows us to determine epidemiological indicators, clinical features of diseases and evaluate the therapy being carried out.

AIM: To assess the effectiveness and level of continuity of medical care in the Republic of Tatarstan based on an epidemiological analysis of a group of patients diagnosed with primary immunodeficiency.

MATERIALS AND METHODS: analysis of the register of patients living in the Republic of Tatarstan with an established diagnosis of primary immunodeficiency, observed from 1994 to 2023. A total of 240 patients were included in the study.

RESULTS: An epidemiological analysis of inborn errors of immunity in the Republic of Tatarstan revealed an overall prevalence of 6.0 per 100,000 population, with the status "alive" ― 4.98 per 100,000 population, excluding patients with selective IgA deficiency ― 5.3 and 4.4 per 100,000 population, respectively, with a high proportion of patients over 18 years of age (53%), with the largest group of patients having defects in antibody production (42%).

CONCLUSION: The increasing relevance of the problem of primary immunodeficiency requires special attention to the organization of medical care for patients with primary immunodeficiency, increasing continuity between specialized pediatric services and the adult network, as well as developing issues of interdisciplinary interaction.

作者简介

Olesya Skorokhodkina

Kazan State Medical University

编辑信件的主要联系方式.
Email: olesya-27@rambler.ru
ORCID iD: 0000-0001-5793-5753

MD, Dr. Sci. (Med.), Professor

俄罗斯联邦, Kazan

Alexey Luntsov

Republican Clinical Hospital of the Republic of Tatarstan Ministry of Health

Email: luntsov@gmail.com
ORCID iD: 0000-0003-2552-2107

MD, Cand. Sci. (Med.)

俄罗斯联邦, Kazan

Farida Sibgatullina

Republic Childrens Hospital

Email: farida.sibgatullina@yandex.ru
ORCID iD: 0000-0003-1642-6949

MD, Cand. Sci. (Med.)

俄罗斯联邦, Kazan

Ekaterina Ivanova

The Russian National Research Medical University named after N.I. Pirogov

Email: avonavikate@mail.ru
ORCID iD: 0009-0003-2199-4649
俄罗斯联邦, Moscow

Rezeda Khakimova

Kazan State Medical University

Email: khakimova@yandex.ru
ORCID iD: 0000-0003-0754-9605

MD, Dr. Sci. (Med.), Professor

俄罗斯联邦, Kazan

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2. Fig. 1. Number of patients with primary immunodeficiencies in the Republic of Tatarstan in age subgroups at the time of diagnosis, n.

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3. Fig. 2. Number of patients with primary immunodeficiencies with the status "alive" in the Republic of Tatarstan in age subgroups in 2023, n.

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4. Fig. 3. Distribution of patients from the registry of the Republic of Tatarstan by primary immunodeficiencies groups, n. Note. ПИД ― primary immunodeficiency; АВЗ ― autoinflammatory diseases.

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5. Fig. 4. Distribution of patients from the registry of the Republic of Tatarstan into primary immunodeficiencies groups among children (n=118) and adults (n=122) in the general group with all statuses ("аlive", "died", "lost from follow-up").

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6. Fig. 5. Conducting genetic testing in patients with primary immunodeficiencies in the Republic of Tatarstan.

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7. Fig. 6. Routing scheme for patients with primary immunodeficiencies based on continuity of medical care in the Republic of Tatarstan. Note. РКБ/ДРКБ ― Republican Clinical Hospital / Children's Republican Clinical Hospital; ОАК ― general blood analysis; МСЭК ― medical and social expert commission; ВВИГ ― intravenous immunoglobulins.

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