Latest Advances in Autoinflammation
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Immunology".
Deadline for manuscript submissions: 31 October 2024 | Viewed by 46
Special Issue Editor
Interests: autoimmunity; autoinflammation; immune response to infection and vaccines; immunodeficiency
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Autoinflammatory diseases represent a spectrum of disorders characterized by dysregulated innate immune responses, usually resulting in recurrent episodes of systemic inflammation. These conditions, once considered rare, are increasingly recognized and, besides causing morbidity and mortality, are acknowledged for the burden they place on health-related quality of life.
Recent advances in understanding the pathophysiology of autoinflammatory diseases have unveiled intricate molecular mechanisms underlying aberrant immune activation, providing novel insights into potential therapeutic targets.
This thematic series aims to explore the latest developments in autoinflammatory diseases, focusing on elucidating their pathophysiology and innovative approaches to treatment. By bringing together cutting-edge research and clinical perspectives, this series seeks to enhance our understanding of these complex disorders and facilitate the translation of scientific discoveries into clinical practice.
The pathogenesis of autoinflammatory diseases involves the dysregulated activation of the innate immune system, leading to the production of pro-inflammatory cytokines and chemokines. Genetic predisposition plays a crucial role in many of these conditions, with mutations in genes encoding proteins involved in innate immune signaling pathways, such as the inflammasome and cytokine receptors. However, environmental factors and epigenetic modifications also contribute to disease susceptibility and phenotypic variability.
Clinically, autoinflammatory diseases present with a wide range of manifestations, including recurrent fevers, rash, arthritis, and organ-specific inflammation. The lack of specific diagnostic markers and overlapping clinical features often pose challenges in accurate diagnosis and timely intervention. Moreover, the heterogeneity within each disease phenotype necessitates a personalized approach to management.
Significant progress has been made in the development of targeted therapies for autoinflammatory disease. For instance, interleukin-1 (IL-1) inhibitors have been discovered, providing effective control for inflammation, improving clinical outcomes in patients with conditions such as familial Mediterranean fever (FMF), cryopyrin-associated periodic syndromes (CAPS), and tumor necrosis factor receptor-associated periodic syndrome (TRAPS). Additionally, small molecule inhibitors targeting key mediators of innate immune pathways are being investigated as potential therapeutic options for refractory cases and novel disease entities.
Despite these advances, challenges remain in the management of autoinflammatory diseases, including the identification of new genetic causes, non-genetic causative mechanisms, biomarkers of disease activity and responses to treatment, the optimization of treatment strategies to minimize long-term complications, and the need for multidisciplinary care to address the diverse clinical manifestations and comorbidities associated with these conditions.
This thematic series will include original reports, reviews, and perspectives from leading experts in the field, covering a broad range of topics related to autoinflammation, including genetics, immunology, clinical management, and therapeutic innovations. This Special Issue will aim to accelerate progress in understanding the related etiology, pathogenesis, diagnosis, and treatment by providing a broad base of knowledge, fostering the collaboration needed to expand on that foundation.
Dr. Davide Firinu
Guest Editor
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- autoinflammatory
- innate immunity
- inflammasome
- recurrent fever
- NLRP3
- VEXAS
- AOSD
- interleukin-1 (IL-1)
- genetics
- syndrome of undifferentiated recurrent fever (SURF)
- caspase
- CAPS
- anakinra
- cryopirin
