2009 | Seth L. Masters, Anna Simon, Ivona Aksentijevich, and Daniel L. Kastner
The article "Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease" by Seth L. Masters, Anna Simon, Ivona Aksentijevich, and Daniel L. Kastner provides an updated classification scheme for autoinflammatory diseases based on molecular insights. The authors define six categories of autoinflammatory diseases: IL-1β activation disorders (inflammasomopathies), NF-κB activation syndromes, protein misfolding disorders, complement regulatory diseases, disturbances in cytokine signaling, and macrophage activation syndromes. The article highlights the importance of understanding the underlying biology of these diseases to better understand their genetic, immunologic, and therapeutic interrelationships. The authors discuss specific examples of each category, such as cryopyrin-associated periodic syndromes (CAPS), familial Mediterranean fever (FMF), pyogenic arthritis with pyoderma gangrenosum and acne (PAPA) syndrome, chronic recurrent multifocal osteomyelitis (CRMO), and synovitis acne pustulosis hyperostosis osteitis (SAPHO) syndrome. They also explore the role of specific proteins and pathways in the pathogenesis of these diseases, such as NLRP3, pyrin, and mevalonate kinase (MK). The article emphasizes the need for further research to elucidate the molecular mechanisms and develop more effective treatments for autoinflammatory diseases.The article "Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease" by Seth L. Masters, Anna Simon, Ivona Aksentijevich, and Daniel L. Kastner provides an updated classification scheme for autoinflammatory diseases based on molecular insights. The authors define six categories of autoinflammatory diseases: IL-1β activation disorders (inflammasomopathies), NF-κB activation syndromes, protein misfolding disorders, complement regulatory diseases, disturbances in cytokine signaling, and macrophage activation syndromes. The article highlights the importance of understanding the underlying biology of these diseases to better understand their genetic, immunologic, and therapeutic interrelationships. The authors discuss specific examples of each category, such as cryopyrin-associated periodic syndromes (CAPS), familial Mediterranean fever (FMF), pyogenic arthritis with pyoderma gangrenosum and acne (PAPA) syndrome, chronic recurrent multifocal osteomyelitis (CRMO), and synovitis acne pustulosis hyperostosis osteitis (SAPHO) syndrome. They also explore the role of specific proteins and pathways in the pathogenesis of these diseases, such as NLRP3, pyrin, and mevalonate kinase (MK). The article emphasizes the need for further research to elucidate the molecular mechanisms and develop more effective treatments for autoinflammatory diseases.