Advances of Autoinflammatory Diseases: Diagnosis, Treatment and Prognosis

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

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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.

• autoinflammatory disease
• innate immune-mediated disease
• autoimmunity
• genetic variation
• biomarker
• inflammation
• next-generation sequencing