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Advances of Autoinflammatory Diseases: Diagnosis, Treatment and Prognosis
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Advances of Autoinflammatory Diseases: Diagnosis, Treatment and Prognosis

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 August 2024) | Viewed by 4092

Special Issue Editor

Dr. Katerina Laskari

E-Mail Website
Guest Editor
Department of Propedeutic and Internal Medicine, National and Kapodistrian University of Athens, Athens, Greece
Interests: rheumatic diseases; autoimmunity; autoinflammatory diseases

Special Issue Information

Dear Colleagues,

Systemic autoinflammatory diseases (SAIDs) are a growing group of rare disorders caused by the dysregulation of the innate immune system, leading to episodes of organ-specific and systemic inflammation. Since the original description as periodic fever and inflammation in serous membranes due to the activation of the inflammasome and cytokine excess, the focus has shifted considerably to the inclusion of complex multifactorial conditions, and more than 30 associated genes have been identified. Recent research is directed towards a better understanding of disease pathogenesis and the recognition of more specific disease biomarkers. At the same time, novel mutations and diseases are under identification using next-generation sequencing techniques, and phenotypic variation is explained by modifying gene alleles, epigenetic effects, and environmental factors. The scientific community is moving towards a systems-based classification of innate immune-mediated diseases, while future developments will allow personalized treatment approaches and the development of novel therapeutic targets, resulting in the improved quality of life and prognosis of these patients.

This journal aims to highlight new perspectives on these diseases. Authors are encouraged to address the following themes: to describe new genetic variations (or combination of gene mutations) and examine their potential functional role in SAIDs; to describe the dysregulation of the inflammasome and assess the role of cytokines and other mediator network disequilibrium in the expression of SAIDs; to investigate translational, proteomic or microbiome alterations associated with SAIDs; to identify candidate signatures, i.e., biomarker(s) able to classify patients; to shed light to the clinical spectrum and prognosis in association with biological disease characteristics; to study the socioeconomic and psychological impact of SAIDs; to highlight the response to treatment(s) in association with clinical and biological patient characteristics, and describe newer therapeutic approaches.

The preparation of original research papers is encouraged. However, clinical trials, systematic reviews, study protocols, brief research reports, case reports, community case studies, mini reviews, general commentaries, and editorials are also welcome.

Dr. Katerina Laskari
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. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). 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 disease
  • innate immune-mediated disease
  • autoimmunity
  • genetic variation
  • biomarker
  • inflammation
  • next-generation sequencing

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Published Papers (2 papers)

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Research

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9 pages, 2072 KiB  
Article
The Potential Role of Cell-Death Mechanisms in the Pathogenesis of Familial Mediterranean Fever Attacks: Granzyme A and Beyond
by Ece Yaglikara, Oguz Boluk, Yagmur Bayindir, Yelda Bilginer, Medine Aysin Tasar, Seza Ozen and Erdal Sag
Diagnostics 2024, 14(18), 2031; https://doi.org/10.3390/diagnostics14182031 - 13 Sep 2024
Viewed by 1040
Abstract
Background: FMF is the most common autoinflammatory disease. The activation of the pyrin inflammasome is the mainstay of the pathogenesis, which might lead to a specific cell-death mechanism, pyroptosis. Pyroptosis is a programmed inflammatory cell death mediated by gasdermin proteins, featuring cell swelling, [...] Read more.
Background: FMF is the most common autoinflammatory disease. The activation of the pyrin inflammasome is the mainstay of the pathogenesis, which might lead to a specific cell-death mechanism, pyroptosis. Pyroptosis is a programmed inflammatory cell death mediated by gasdermin proteins, featuring cell swelling, membrane rupture, and release of inflammatory contents Aim: In this study we aimed to analyze the cell-death mechanisms in the pathogenesis of FMF attacks. Methods: Twenty-five FMF patients were included, and PFAPA patients (n = 10) and healthy controls (HC, n = 10) served as controls. We collected plasma samples from FMF and PFAPA patients during the attack and the attack-free period. We measured the soluble plasma levels of sFas, sFasL, granzyme A, granzyme B, perforin, granulysin, IL-2, IL-4, IL-10, IL-6, IL-17A, TNF-α, and IFN-γ by commercial pre-defined cytometric bead array kits. Results: There was no significant difference between groups in terms of sex and age between FMF patients and HCs, but PFAPA patients were younger than other groups due to the nature of the disease. We then analyzed the components of apoptosis and pyroptosis. The levels of sFasL (p = 0.035) and granzyme A (p = 0.038) in FMF patients were significantly increased during the attack period and decreased to levels comparable to HCs during the attack-free period. This increase was not seen in the PFAPA patients, with comparable levels with the HC group both during attack period and attack-free period. During the attack period of FMF patients, granzyme B (p = 0.145) and perforin (p = 0.203) levels were also increased; however, the differences were not statistically significant. The levels of sFasL, granzyme A, granzyme B, and perforin were closely correlated with each other during the attack period of FMF patients. Conclusions: Our study on death pathways during an FMF attack, suggests an upregulation in both pyroptosis through the granzyme-gasdermin pathway and apoptosis with the increased FasL and perforin levels, which was different from PFAPA patients. These findings might shed light on the reason for the nature of self-limited attacks, but further studies are needed to prove this hypothesis. Full article
(This article belongs to the Special Issue Advances of Autoinflammatory Diseases: Diagnosis, Treatment and Prognosis)
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Review

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17 pages, 1841 KiB  
Review
Vitamin D in Primary Sjogren’s Syndrome (pSS) and the Identification of Novel Single-Nucleotide Polymorphisms Involved in the Development of pSS-Associated Diseases
by Siarhei A. Dabravolski, Alexey V. Churov, Irina A. Starodubtseva, Dmitry F. Beloyartsev, Tatiana I. Kovyanova, Vasily N. Sukhorukov and Nikolay A. Orekhov
Diagnostics 2024, 14(18), 2035; https://doi.org/10.3390/diagnostics14182035 - 13 Sep 2024
Cited by 3 | Viewed by 2188
Abstract
Sjögren’s syndrome (SS) is a chronic autoimmune disorder characterised by lymphocytic infiltration of the exocrine glands, which leads to dryness of the eyes and mouth; systemic manifestations such as arthritis, vasculitis, and interstitial lung disease; and increased risks of lymphoma and cardiovascular diseases. [...] Read more.
Sjögren’s syndrome (SS) is a chronic autoimmune disorder characterised by lymphocytic infiltration of the exocrine glands, which leads to dryness of the eyes and mouth; systemic manifestations such as arthritis, vasculitis, and interstitial lung disease; and increased risks of lymphoma and cardiovascular diseases. SS predominantly affects women, with a strong genetic component linked to sex chromosomes. Genome-wide association studies (GWASs) have identified numerous single-nucleotide polymorphisms (SNPs) associated with primary SS (pSS), revealing insights into its pathogenesis. The adaptive and innate immune systems are crucial to SS’s development, with viral infections implicated as environmental triggers that exacerbate autoimmune responses in genetically susceptible individuals. Moreover, recent research has highlighted the role of vitamin D in modulating immune responses in pSS patients, suggesting its potential therapeutic implications. In this review, we focus on the recently identified SNPs in genes like OAS1, NUDT15, LINC00243, TNXB, and THBS1, which have been associated with increased risks of developing more severe symptoms and other diseases such as fatigue, lymphoma, neuromyelitis optica spectrum disorder (NMOSD), dry eye syndrome (DES), and adverse drug reactions. Future studies should focus on larger, multi-ethnic cohorts with standardised protocols to validate findings and identify new associations. Integrating genetic testing into clinical practise holds promise for improving SS management and treatment strategies, enabling personalised interventions based on comprehensive genetic profiles. By focusing on specific SNPs, vitamin D, and their implications, future research can lead to more effective and personalised approaches for managing pSS and its complications. Full article
(This article belongs to the Special Issue Advances of Autoinflammatory Diseases: Diagnosis, Treatment and Prognosis)
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