Systemic autoinflammatory diseases (SAIDs) encompass phenotypes as hereditary recurrent fever syndromes, a group of genetically determined diseases, characterized by exaggerated activation of the innate immune system leading to sterile inflammation. However, SAIDs can also be of polygenic origin, with environmental influence modulating the phenotype. Since the original description as periodic fever and inflammation in serous membranes due to activation of the inflammasome and cytokine excess, the focus has shifted considerably to the inclusion of complex multifactorial conditions. Indeed, the spectrum of SAIDs is constantly expanding; at the same time, new gene variants emerge, while the interpretation of their pathogenicity is regularly being updated. Nevertheless, a substantial number of patients do not exhibit features of a well-defined SAID, whereas gene analysis often fails to determine a causative variant, especially in patients with clinically undefined disease (80-90%). The term syndrome of undifferentiated recurrent fever (SURF) has been increasingly used in these cases.
In this context, next generation sequencing (NGS) facilitated diagnosis by expanding the spectrum of possibly involved genes, and resulted in newly described genotype-phenotype correlations. Recent research is directed towards a better understanding of disease pathogenesis, the recognition of more specific disease biomarkers, personalized treatment approaches and development of novel therapeutic targets.
This Research Topic aims to highlight new perspectives on these diseases. Authors are encouraged to address the following themes:
- New genetic variations;
- Pathogenicity of variants by functional studies;
- Dysregulation of the inflammasome and assess the role of cytokine and other mediator network disequilibrium;
- Translational, proteomic or microbiome alterations;
- Candidate biomarkers able to classify patients;
- Clinical spectrum and prognosis in association with biological disease characteristics;
- The socioeconomic and psychological impact of SAIDs;
- The response to treatment in association with clinical and biological patient characteristics;
- 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, and General Commentaries are also welcome.
Keywords: Systemic Autoinflammatory Diseases, SAIDs, Inflammation, inflammatory diseases, therapeutic approaches
Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.
