Dysregulation of inflammasomes in autoinflammatory diseases.

Abstract

Inflammasomes are multiprotein complexes that play a crucial role in the innate immune response by detecting cellular stress and initiating inflammatory signaling through the release of cytokines. When inflammation is dysregulated, it can contribute significantly to the development of autoinflammatory diseases, a group of disorders characterized by inappropriate inflammation in the absence of infection or autoimmunity. This review examines the current understanding of inflammasome dysfunction in various autoinflammatory diseases, highlighting recent advances that connect genetic mutations and environmental triggers to the hyperactivation of inflammasomes. We focus on key inflammasomes, including NLRP1, NLRP3, NLRC4, and Pyrin, and their involvement in disorders such as Cryopyrin-Associated Periodic Syndromes and Familial Mediterranean Fever. Furthermore, we discuss the molecular mechanisms that lead to inflammasome dysregulation, such as gain-of-function mutations. We also review therapeutic approaches targeting these pathways, which show promise in alleviating disease symptoms and improving patient outcomes.