Hereditary Systemic Autoinflammatory Diseases: Therapeutic Stratification.

ABSTRACT: Hereditary systemic autoinflammatory diseases (SAIDs) are rare, often severe conditions characterised by mutations in the key regulators of innate immune responses. Dramatic advances in the molecular genetics and next-generation sequencing in the past decade enabled identification of novel mutations that play a pivotal role in the mechanistic pathways of inflammation. Although genetic testing may not always provide straightforward guidance in diagnosis and clinical decision making, through translational research, it sheds light into molecular immunopathogenesis, particularly in IL-1 inflammasome and cytokine signalling pathways. These remarkable insights provided a better understanding of autoinflammatory conditions and their association with the innate and adaptive immune systems, as well

SUBMITTER: Kul Cinar O 

PROVIDER: S-EPMC9096795 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature