Innate Immunity in Overdrive: Novel Insights into Autoinflammatory Syndromes
A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Immunology & Rheumatology".
Deadline for manuscript submissions: 20 April 2026 | Viewed by 445
Special Issue Editor
Special Issue Information
Dear Colleagues,
Autoinflammatory diseases (AIDs) are a heterogeneous group of disorders characterized by dysregulation of the innate immune system, leading to recurrent or chronic episodes of systemic inflammation in the absence of high-titer autoantibodies or antigen-specific T cells. The clinical spectrum ranges from monogenic syndromes, such as familial Mediterranean fever and cryopyrin-associated periodic syndromes, to multifactorial conditions, including adult-onset Still’s disease and Behçet’s disease. Advances in genetics, molecular biology, and immunopathology have significantly improved our understanding of the underlying mechanisms, highlighting the role of inflammasomes, cytokines such as interleukin (IL)-1, IL-18, and tumor necrosis factor (TNF), and novel regulatory pathways.
In recent years, the establishment of large international databases and disease registries has enabled the collection of robust real-world data, providing important insights into epidemiology, natural history, therapeutic outcomes, and long-term prognosis, with direct implications for clinical practice.
A notable recent advance in the field is the identification of VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic), an adult-onset autoinflammatory disorder caused by somatic UBA1 mutations, first described in 2020. It is characterized by systemic inflammation, cytopenias, and hematologic abnormalities, and exemplifies the shift toward a “genotype-first” approach in disease discovery and classification.
The aim of this Special Issue will be to explore in depth these recent findings and their impact on optimal patient management ranging from early and accurate diagnosis, the identification of reliable biomarkers, and the implementation of precision medicine strategies to the evaluation of treatment outcomes and long-term prognostic indicators. Targeted therapies, particularly IL-1 and IL-6 inhibitors, have already revolutionized disease management, but further advances are expected from a more integrated and personalized approach.
Dr. Alessandro Conforti
Guest Editor
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Keywords
- autoinflammatory diseases
- innate immunity
- inflammasome
- cytokines
- Interleukin-1
- monogenic syndromes
- polygenic autoinflammatory disorders
- adult-onset Still’s disease
- Behçet’s disease
- targeted therapy
- disease registries
- real-world evidence
- VEXAS syndrome
- UBA1 mutations
- precision medicine
- biomarkers
- outcome assessment
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