Autoinflammatory diseases are a group of immune dysregulation disorders caused by mutations in genes predominantly related to innate inflammatory immune responses. Research into pathological mechanisms in autoinflammatory diseases has uncovered several essential underlying processes; inflammasome activation, increased intracellular stress leading to inflammation, enhanced NF-κB-signaling, and dysregulation in IFN signaling. Among the autoinflammatory diseases, the research in inflammasome- and IL-1β-mediated diseases was very successful, eventually leading to new treatment strategies, represented by IL-1β targeting biologics and colchicine. This illustrates that elucidating pathological mechanisms can be translated into achieving significant improvements in the quality of life and the survival of patients with previously untreatable diseases.
In contrast to the significant advancements in our understanding of inflammasome- and IL-1β-mediated autoinflammatory diseases, characterization of non-inflammasome- and non-IL-1β-mediated autoinflammatory diseases is ongoing. Consequently, available therapeutic options are currently limited against non-inflammasome- and non-IL-1β-mediated autoinflammatory conditions. Therefore, further understanding of their pathogenesis and development of disease-specific treatment strategies are urgent clinical needs.
This Research Topic aims to discuss recent discoveries in the pathogenesis and potential drug targets of autoinflammatory diseases from an immunological perspective. A broad spectrum of autoinflammatory diseases, especially non-inflammasome- and non-IL-1β-mediated conditions, will be discussed.
In this research topic, we would also like to discuss autoinflammatory bone diseases. Autoinflammatory bone diseases are a newer area of focus in the context of autoinflammatory diseases, which are characterized by bone and joint involvement as well as being autoinflammatory nature. The autoinflammatory bone diseases include chronic nonbacterial osteomyelitis (CNO), chronic recurrent multifocal osteomyelitis (CRMO), Majeed syndrome, SAPHO syndrome, and cherubism. The understanding of their pathological conditions would shed light on the unappreciated links between osteoimmunology and innate immunity.
We aim to gather Original Research, Review, and Mini-Review articles with basic and translational studies focusing on, but not limited to, the following conditions:
• HA20: Haploinsufficiency of A20
• OTULIN-related autoinflammatory syndrome (ORAS)
• TNF receptor-associated periodic syndrome (TRAPS)
• deficiency of adenosine deaminase 2 (DADA2)
• Deficiency of IL-36 receptor antagonist (DITRA)
• Blau syndrome
• Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA syndrome)
• Chronic recurrent multifocal osteomyelitis (CRMO)
• Majeed syndrome
• SAPHO syndrome
• Cherubism
• chronic atypical neutrophilic dermatitis with lipodystrophy (CANDLE)
• STING–Associated Vasculopathy with Onset in Infancy (SAVI)
• Coatamer complex one protein alpha subunit (COPA) syndrome
Autoinflammatory diseases are a group of immune dysregulation disorders caused by mutations in genes predominantly related to innate inflammatory immune responses. Research into pathological mechanisms in autoinflammatory diseases has uncovered several essential underlying processes; inflammasome activation, increased intracellular stress leading to inflammation, enhanced NF-κB-signaling, and dysregulation in IFN signaling. Among the autoinflammatory diseases, the research in inflammasome- and IL-1β-mediated diseases was very successful, eventually leading to new treatment strategies, represented by IL-1β targeting biologics and colchicine. This illustrates that elucidating pathological mechanisms can be translated into achieving significant improvements in the quality of life and the survival of patients with previously untreatable diseases.
In contrast to the significant advancements in our understanding of inflammasome- and IL-1β-mediated autoinflammatory diseases, characterization of non-inflammasome- and non-IL-1β-mediated autoinflammatory diseases is ongoing. Consequently, available therapeutic options are currently limited against non-inflammasome- and non-IL-1β-mediated autoinflammatory conditions. Therefore, further understanding of their pathogenesis and development of disease-specific treatment strategies are urgent clinical needs.
This Research Topic aims to discuss recent discoveries in the pathogenesis and potential drug targets of autoinflammatory diseases from an immunological perspective. A broad spectrum of autoinflammatory diseases, especially non-inflammasome- and non-IL-1β-mediated conditions, will be discussed.
In this research topic, we would also like to discuss autoinflammatory bone diseases. Autoinflammatory bone diseases are a newer area of focus in the context of autoinflammatory diseases, which are characterized by bone and joint involvement as well as being autoinflammatory nature. The autoinflammatory bone diseases include chronic nonbacterial osteomyelitis (CNO), chronic recurrent multifocal osteomyelitis (CRMO), Majeed syndrome, SAPHO syndrome, and cherubism. The understanding of their pathological conditions would shed light on the unappreciated links between osteoimmunology and innate immunity.
We aim to gather Original Research, Review, and Mini-Review articles with basic and translational studies focusing on, but not limited to, the following conditions:
• HA20: Haploinsufficiency of A20
• OTULIN-related autoinflammatory syndrome (ORAS)
• TNF receptor-associated periodic syndrome (TRAPS)
• deficiency of adenosine deaminase 2 (DADA2)
• Deficiency of IL-36 receptor antagonist (DITRA)
• Blau syndrome
• Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA syndrome)
• Chronic recurrent multifocal osteomyelitis (CRMO)
• Majeed syndrome
• SAPHO syndrome
• Cherubism
• chronic atypical neutrophilic dermatitis with lipodystrophy (CANDLE)
• STING–Associated Vasculopathy with Onset in Infancy (SAVI)
• Coatamer complex one protein alpha subunit (COPA) syndrome