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Acta Medica Academica
Article . 2024 . Peer-reviewed
License: CC BY NC
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Inborn Errors of Immunity: New Insights

Authors: Roganović, Jelena; Bellesi, Gaia;

Inborn Errors of Immunity: New Insights

Abstract

This paper presents a comprehensive and updated overview of inborn errors of immunity (IEIs), focusing on the optimal treatment strategies. IEIs or primary immunodeficiencies (PIDs) are a heterogeneous group of approximately 500 disorders, classified into ten categories according to the affected component of the immune system. The clinical presentation varies, based on the type of the disorder and the patient’s age. Early diagnosis is essential to prevent recurrent severe infections and potential organ damage. Treatment strategies, including hematopoietic stem cell transplantation, enzyme replacement therapy, thymus transplantation, or gene therapy, primarily focus to restore immune function. Emerging therapeutic approaches aiming to modify the immune response comprise small molecule inhibitors, biological therapies, and adoptive transfer of virus-specific T-cells. Given the complexity and diversity of PIDs, as well as evolving novel therapies, continuous education of the physicians on timely diagnosis and effective intervention, significantly improves patients’ management and outcomes. Conclusion. Early diagnosis and individualized treatment plans are crucial for effectively managing IEIs. As treatment options evolve, ongoing education and the integration of new approaches are key to improving patient outcomes and quality of life.

Keywords

Early Diagnosis, Primary Immunodeficiency Diseases, Hematopoietic Stem Cell Transplantation, Immunologic Deficiency Syndromes, Humans, Enzyme Replacement Therapy, Genetic Therapy, Narrative Review

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
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