Registry of primary immunodeficiencies in the Republic of Belarus: 20-year experience

Primary immunodeficiencies (PIDs) are a heterogeneous group of diseases caused by genetically determined congenital defects of one or more components of the immune system. The prevalence of PIDs worldwide is one of the key epidemiological indicators that allows for the formation of optimal public health policies regarding their treatment and prevention at the national and international levels. With the help of registries, it is possible to demonstrate differences in the ethnic and geographical prevalence of PID, and to obtain data on clinical features, diagnosis, and treatment options. Since 2005, targeted work has been initiated in the Republic of Belarus to provide medical care to patients with PID. As of the beginning of 2025, the Republican PID Registry of the Republic of Belarus includes 774 patients. The constant annual increase in the detection of new cases of PID highlights the progressive improvement in physicians’ awareness of primary immune system disorders, although additional measures in this direction are clearly necessary.

1. Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee / M.C. Poli, I. Aksentijevich [et al]. // Journal of Human Immunity. – 2025. – V. 1. – №.1. – e20250003.

2. Inborn errors of immunity: Manifestation, treatment, and outcome – an ESID registry 1994–2024 report on 30,628 patients / G. Kindle, M. Alligon, M.H. Albert [et al.] // Journal of Human Immunity. – 2025. – V. 1. – №.3. – P. e20250007.

3. Primary Immunodeficiencies: A Decade of Progress and a Promising Future / I. Meyts, A. Bousfiha, C. Duff [et al.] // Frontiers in immunology. – 2021. – V. 11. – P. 625753.

4. Severe combined immunodeficiency (SCID) and its new treatment modalities / A.M. Wadbudhe, R.J. Meshram, S. C. Tidke // Cureus. – 2023. – V.15. – №. 10.

5. CVID-associated intestinal disorders in the USIDNET registry: an analysis of disease manifestations, functional status, comorbidities, and treatment / L.E. Franzblau, R.L. Fuleihan, C. Cunningham- Rundles [et al.] // Journal of Clinical Immunology. – 2024. – V. 44, №1. – P. 32.

6. Inborn errors of immunity and cancer / A.Tiri, R. Masetti, F. Conti [et al]. // Biology. – 2021. – V. 10, №4. – P. 313.

7. Role of immunoglobulin and antibodies in disease management // International journal of biological macromolecules / K.B. Megha, P.V. Mohanan // International journal of biological macromolecules. – 2021. – V. 169. – P. 28-38.

8. Primary Immunodeficiencies in Russia: Data From the National Registry / A.A. Mukhina, N.B. Kuzmenko, Y.A. Rodina [et al.] // Frontiers in immunology. – 2020. – V. 11. – P. 1491.

9. Impact of the J Project on progress of primary immunodeficiency care in Ukraine / A. Volokha, A. Bondarenko, L. Chernyshova [et al.] // Central European Journal of Immunology. – 2021. – V. 46, №2. – P. 250-257

10. The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019) / V. Lougaris, A Pession, M Baronio [et al.] // Journal of clinical immunology. – 2020. – V. 40, №7. – P. 1026-1037.

11. The German national registry of primary immunodeficiencies (2012–2017) / S.M. El-Helou,A.K. Biegner, S. Bode [et al.] // Frontiers in immunology. – 2019. – V. 10. – P. 1272.

12. Inborn errors of immunity on the island of Ireland—a cross-jurisdictional UKPID/ESID registry report / P. Ryan, V. Redenbaugh, J. McGucken [et al.] // Journal of clinical immunology. – 2022. – V. 42, №6. – P. 1293-1299.

13. The Swiss National Registry for Primary Immunodeficiencies: report on the first 6 years’ activity from 2008 to 2014 / K. Marschall, M. Hoernes, M. Bitzenhofer-Grüber [et al.] // Clinical & Experimental Immunology. – 2015. – V. 182, №1. – S. 45-50.

14. Prevalence of primary immunodeficiencies in France is underestimated / N. Mahlaoui, J.P. Jais, P. Brosselin [et al]. // Journal of Allergy and Clinical Immunology. – 2017. – V. 140, №6. – P. 1731-1733.

15. Comprehensive activities to increase recognition of primary immunodeficiency and access to immunoglobulin replacement therapy in Poland / M. Pac, E. Bernatowska // European journal of pediatrics. – 2016. – V. 175, №8. – S. 1099-1105.

16. The United Kingdom primary immune deficiency (UKPID) registry 2012 to 2017 / B. Shillitoe, C. Bangs, D. Guzman [et al]. // Clinical & Experimental Immunology. – 2018. – V. 192, №3. – P. 284-291.

17. Infant with diffuse large B-cell lymphoma identified postmortem with homozygous founder Slavic RAG1 variant: a case report and literature review / T.P. Volodashchik, E.A. Polyakova, T.M. Mikhaleuskaya [et al]. // Frontiers in Pediatrics. – 2024. – V. 12. – P. 1415020.

18. Inborn errors of immunity: Manifestation, treatment, and outcome-an ESID registry 1994–2024 report on 30,628 patients / G. Kindle, M. Alligon, M.H. Albert [et al]. // Journal of Human Immunity. – 2025. – Т. 1, №3. – e20250007.

19. Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c. 657_661del5 / S.O. Sharapova, O.E. Pashchenko, A.V. Bondarenko [et al]. // Frontiers in immunology. – 2021. – V. 11. – P. 602482.

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