About this Research Topic
Systemic autoinflammatory diseases (SAIDs) are a growing group of rare disorders caused by dysregulation of the innate immune system leading to episodes of organ-specific and systemic inflammation. Autoinflammation as a distinct disease category was first reported in 1999 as a group of monogenic disorders with resultant activation of the inflammasome and cytokine excess, presenting as periodic fever and inflammation in serous membranes. Since this original description, the focus has shifted considerably to the inclusion of complex multifactorial conditions, and more than 30 associated genes have been identified. Disease severity varies from mild to life threatening. Advances in the understanding of the pathogenetic role of interleukin-1, have opened new promising horizons in the treatment of these patients, and significantly altered disease outcome.
Ongoing research will shed light to unsolved issues in this interesting field. For example, the genetic cause often remains unknown, while as most of SAIDs are polygenic and multifactorial, there is no constitutive disease-defining biomarker. At the same time, although inflammasome activation and increased production of interleukin-1 are thought to be a common pathophysiological pathway in SAIDs, the complex network of cytokine cascades, mediator production, together with multiple cell type activation, makes it difficult to use these features as diagnostic markers. Even so, clinical symptoms are nonspecific, thus, diagnosis is often delayed, while disease remains undefined in 40-60% of patients. Current diagnostic or classification criteria do not allow defining homogeneous groups of patients, especially with regard to pathogenic mechanisms, prognosis, and response to therapy, and they are not specific enough to rule out differential diagnoses. Finally, more data are awaited on the treatment of refractory or severe disease and the identification of prognostic biomarkers.
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. Furthermore, the boundaries of what are considered to be autoinflammatory disorders are constantly evolving and currently encompass elements of immunodeficiency and autoimmunity. Thus, the scientific community is moving towards a systems-based classification of innate immune-mediated diseases, while future developments will allow personalized treatment approaches and development of novel therapeutic targets, resulting in improved quality of life and prognosis of these patients.
This journal issue dedicated to Autoinflammatory diseases aims to highlight new perspectives on these diseases from bench to bedside.
Authors are encouraged to address 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 cytokine 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.
Ongoing research will shed light to unsolved issues in this interesting field. For example, the genetic cause often remains unknown, while as most of SAIDs are polygenic and multifactorial, there is no constitutive disease-defining biomarker. At the same time, although inflammasome activation and increased production of interleukin-1 are thought to be a common pathophysiological pathway in SAIDs, the complex network of cytokine cascades, mediator production, together with multiple cell type activation, makes it difficult to use these features as diagnostic markers. Even so, clinical symptoms are nonspecific, thus, diagnosis is often delayed, while disease remains undefined in 40-60% of patients. Current diagnostic or classification criteria do not allow defining homogeneous groups of patients, especially with regard to pathogenic mechanisms, prognosis, and response to therapy, and they are not specific enough to rule out differential diagnoses. Finally, more data are awaited on the treatment of refractory or severe disease and the identification of prognostic biomarkers.
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. Furthermore, the boundaries of what are considered to be autoinflammatory disorders are constantly evolving and currently encompass elements of immunodeficiency and autoimmunity. Thus, the scientific community is moving towards a systems-based classification of innate immune-mediated diseases, while future developments will allow personalized treatment approaches and development of novel therapeutic targets, resulting in improved quality of life and prognosis of these patients.
This journal issue dedicated to Autoinflammatory diseases aims to highlight new perspectives on these diseases from bench to bedside.
Authors are encouraged to address 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 cytokine 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.
Keywords: autoinflammation; pathogenesis; genes; cytokines; biomarker; classification; treatment;
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