Systemic autoinflammatory diseases (SAIDs) are caused by aberrant activation of one or more inflammatory pathways in an antigen-independent manner. Monogenic forms of SAIDs typically manifest during childhood and early treatment is essential to minimize morbidity and mortality. Based on the mechanism of disease and the dominant cytokine(s) that propagates inflammation, monogenic SAIDs can be grouped into major categories including inflammasomopathies / disorders of interleukin-1, interferonopathies, and disorders of nuclear factor kappa B and/or aberrant tumor necrosis factor activity. This classification scheme has direct therapeutic relevance given the availability of biologic agents and small molecule inhibitors that specifically target these pathways. Here, we review the experience of using biologics that target interleukin-1 and tumor necrosis factor, as well as Janus kinase inhibitors for the treatment of monogenic SAIDs in pediatric patients. We provide an evidence-based guide for the use of these medications and discuss their mechanism of action, safety profile, and strategies for therapeutic monitoring.
【저자키워드】 interferon, biologics, jak inhibitors, Inflammasome, NFκB, IL-1, TNF, Autoinflammation, Systemic autoinflammatory disease,