Inborn errors of immunity and the organization of care delivery in Saint Petersburg

Since the mid-1970s, Gleb Borisovich Fedoseev has played a key role in the development of allergy and immunology services in Leningrad–Saint Petersburg, with a particular focus on the diagnosis and treatment of inborn errors of immunity (IEI), as well as on the training of physicians of various specialties. Inborn errors of immunity represent a heterogeneous group of genetic diseases associated with increased susceptibility to infections, as well as autoimmune, autoinflammatory, and lymphoproliferative manifestations. Despite their rarity as individual nosological entities, the overall prevalence of IEI is comparable to that of other orphan diseases, while the real frequency is likely higher due to underdiagnosis and clinical polymorphism.
The modern understanding of IEI has shifted from predominantly humoral defects to disorders of immune regulation associated with dysfunction of signaling pathways, regulatory T cells, apoptosis, and tolerance mechanisms. This results in a wide spectrum of clinical phenotypes and complicates early diagnosis. Comprehensive diagnostic algorithms using molecular genetic and functional immunological methods, including high-throughput sequencing and immune repertoire analysis, are therefore of paramount importance.
Treatment of IEI includes immunoglobulin replacement therapy, hematopoietic stem cell transplantation, and the use of targeted drugs aimed at correcting specific pathogenetic mechanisms.
In Saint Petersburg, a specialized center has been established at the Saint-Petersburg Pasteur Institute, providing diagnostics, treatment, long-term follow-up, maintenance of patient registry, and educational activities. The development of registries, technologies, and interdisciplinary cooperation forms the basis for further improvement of care for patients with IEI..

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