Autoinflammatory syndromes and cellular responses to stress: pathophysiology, diagnosis and new treatment perspectives

S Savic, LJ Dickie, M Wittmann… - Best Practice & Research …, 2012 - Elsevier
The term 'autoinflammatory disease'was first proposed in 1999 to encompass some of the
distinct clinicopathologic features of a group of monogenic conditions, characterised by
recurrent episodes of inflammation, without high-titre autoantibodies or antigen-specific T
cells. It was subsequently observed that several of these conditions were caused by
mutations in proteins involved in the innate immune response, including, among others,
components of the NLRP3 inflammasome, cytokine receptors (tumour necrosis factor …