Autoinflammatory diseases. Part 1: concept, classification, immunobiology, diagnosis
Systemic autoinflammatory diseases (SAIDs) are a group of inherited monogenic diseases characterized by dysregulated innate immunity leading to excessive activation of inflammatory pathways. Recently, some molecular mechanisms typical for autoinflammation have also been recognized in the pathogenesi...
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| Format: | Article |
| Language: | English |
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Zaslavsky O.Yu.
2024-11-01
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| Series: | Zdorovʹe Rebenka |
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| Online Access: | https://childshealth.zaslavsky.com.ua/index.php/journal/article/view/1760 |
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| author | O.V. Shvaratska M.V. Kalichevska O.V. Klymenko O.M. Taran O.V. Klimova Y.V. Vilenskyi T.M. Plekhanova T.K. Mavropulo |
| author_facet | O.V. Shvaratska M.V. Kalichevska O.V. Klymenko O.M. Taran O.V. Klimova Y.V. Vilenskyi T.M. Plekhanova T.K. Mavropulo |
| author_sort | O.V. Shvaratska |
| collection | DOAJ |
| description | Systemic autoinflammatory diseases (SAIDs) are a group of inherited monogenic diseases characterized by dysregulated innate immunity leading to excessive activation of inflammatory pathways. Recently, some molecular mechanisms typical for autoinflammation have also been recognized in the pathogenesis of several autoimmune and immunodeficiency states. This scientific review aimed to systematize current ideas about autoinflammatory diseases to increase medical professionals’ awareness regarding the issue, which is significantly lower than that of other categories of immune dysfunction. We performed a focused search over the Web of Science, Scopus, PubMed Central®, Google Scholar databases over the past 10 years using the keywords “autoinflammatory diseases”, “autoinflammatory syndromes”, “autoinflammation”. The review reflects the historical evolution of scientific views on the immunopathogenesis of autoinflammation since the introduction of the concept in 1999: from the interleukin (IL)-1-centered paradigm to recognition of the significant role of other signaling pathways. Further, we discuss the place of autoinflammation in the spectrum of immunological disorders and present current scientific data on the immunobiological basis of autoinflammation. In particular, we review how the innate immune system triggers inflammation within the inflammasome, interferon and nuclear factor kappa B (NF-κB) signaling pathways, highlighting the role of intracellular sensor proteins, inflammasomes, gasdermin D, IL-1β, IL-18 and IL-36, NF-κB, tumor necrosis factor, type 1 interferons, and others. Based on the underlying molecular pathogenesis, the following classification categories of SAIDs have been suggested recently: inflammasomopathies and other enhanced IL-1 signaling syndromes, interferonopathies, relopathies, protein misfolding diseases/endoplasmic reticulum stress syndromes, other cytokine-signaling disorders and complementopathies. The review also discusses diagnostic challenges and presents current scientific recommendations for the diagnosis of SAIDs, highlighting the distinguishing features of the classic autoinflammatory disorders and the existing potential of diagnostic tests. |
| format | Article |
| id | doaj-art-4fe8557714fc4e8e892b15f2ddf0334a |
| institution | Kabale University |
| issn | 2224-0551 2307-1168 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Zaslavsky O.Yu. |
| record_format | Article |
| series | Zdorovʹe Rebenka |
| spelling | doaj-art-4fe8557714fc4e8e892b15f2ddf0334a2025-01-12T11:28:26ZengZaslavsky O.Yu.Zdorovʹe Rebenka2224-05512307-11682024-11-0119747048110.22141/2224-0551.19.7.2024.17601760Autoinflammatory diseases. Part 1: concept, classification, immunobiology, diagnosisO.V. Shvaratska0https://orcid.org/0000-0002-3778-4043M.V. Kalichevska1https://orcid.org/0000-0002-3177-1065O.V. Klymenko2https://orcid.org/0009-0002-4853-2586O.M. Taran3https://orcid.org/0009-0006-9795-3896O.V. Klimova4https://orcid.org/0009-0005-0947-0804Y.V. Vilenskyi5https://orcid.org/0000-0002-5016-1107T.M. Plekhanova6https://orcid.org/0000-0002-9243-5399T.K. Mavropulo7https://orcid.org/0000-0001-9351-3080Dnipro State Medical University, Dnipro, UkraineDnipro State Medical University, Dnipro, UkraineDnipro State Medical University, Dnipro, UkraineDnipro State Medical University, Dnipro, UkraineDnipro State Medical University, Dnipro, UkraineDnipro State Medical University, Dnipro, UkraineDnipro State Medical University, Dnipro, UkraineDnipro State Medical University, Dnipro, UkraineSystemic autoinflammatory diseases (SAIDs) are a group of inherited monogenic diseases characterized by dysregulated innate immunity leading to excessive activation of inflammatory pathways. Recently, some molecular mechanisms typical for autoinflammation have also been recognized in the pathogenesis of several autoimmune and immunodeficiency states. This scientific review aimed to systematize current ideas about autoinflammatory diseases to increase medical professionals’ awareness regarding the issue, which is significantly lower than that of other categories of immune dysfunction. We performed a focused search over the Web of Science, Scopus, PubMed Central®, Google Scholar databases over the past 10 years using the keywords “autoinflammatory diseases”, “autoinflammatory syndromes”, “autoinflammation”. The review reflects the historical evolution of scientific views on the immunopathogenesis of autoinflammation since the introduction of the concept in 1999: from the interleukin (IL)-1-centered paradigm to recognition of the significant role of other signaling pathways. Further, we discuss the place of autoinflammation in the spectrum of immunological disorders and present current scientific data on the immunobiological basis of autoinflammation. In particular, we review how the innate immune system triggers inflammation within the inflammasome, interferon and nuclear factor kappa B (NF-κB) signaling pathways, highlighting the role of intracellular sensor proteins, inflammasomes, gasdermin D, IL-1β, IL-18 and IL-36, NF-κB, tumor necrosis factor, type 1 interferons, and others. Based on the underlying molecular pathogenesis, the following classification categories of SAIDs have been suggested recently: inflammasomopathies and other enhanced IL-1 signaling syndromes, interferonopathies, relopathies, protein misfolding diseases/endoplasmic reticulum stress syndromes, other cytokine-signaling disorders and complementopathies. The review also discusses diagnostic challenges and presents current scientific recommendations for the diagnosis of SAIDs, highlighting the distinguishing features of the classic autoinflammatory disorders and the existing potential of diagnostic tests.https://childshealth.zaslavsky.com.ua/index.php/journal/article/view/1760autoinflammationautoinflammatory diseasesinflammasomopathiesinterferonopathiesrelopathiesreview |
| spellingShingle | O.V. Shvaratska M.V. Kalichevska O.V. Klymenko O.M. Taran O.V. Klimova Y.V. Vilenskyi T.M. Plekhanova T.K. Mavropulo Autoinflammatory diseases. Part 1: concept, classification, immunobiology, diagnosis Zdorovʹe Rebenka autoinflammation autoinflammatory diseases inflammasomopathies interferonopathies relopathies review |
| title | Autoinflammatory diseases. Part 1: concept, classification, immunobiology, diagnosis |
| title_full | Autoinflammatory diseases. Part 1: concept, classification, immunobiology, diagnosis |
| title_fullStr | Autoinflammatory diseases. Part 1: concept, classification, immunobiology, diagnosis |
| title_full_unstemmed | Autoinflammatory diseases. Part 1: concept, classification, immunobiology, diagnosis |
| title_short | Autoinflammatory diseases. Part 1: concept, classification, immunobiology, diagnosis |
| title_sort | autoinflammatory diseases part 1 concept classification immunobiology diagnosis |
| topic | autoinflammation autoinflammatory diseases inflammasomopathies interferonopathies relopathies review |
| url | https://childshealth.zaslavsky.com.ua/index.php/journal/article/view/1760 |
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