The expanding pathways of autoinflammation: a lesson from the first 100 genes related to autoinflammatory manifestations.

摘要: AutoInflammatory Diseases (AIDs) are a group of innate immune system disorders characterized by sterile inflammation without evidence pathogenic autoantibodies or auto-reactive T lymphocytes. An expanding spectrum genes and molecular pathways associated with AIDs. Inflammasomopathies secondary to dysregulation multi-protein complexes, called inflammasomes, leading an excessive maturation secretion IL1β IL18. Patients present persistent recurrent systemic inflammation, abdominal chest pain, skin rashes sensible IL1 inhibitors. Unfolded proteins response causes small number AIDs that we propose call immuno-proteinopathies, fevers deep tissues inflammation. Other inflammatory conditions can occur in case abnormalities actin polymerization the term immuno-actinopathies is proposed. Generalized pustular psoriasis marker autoinflammation mainly affecting keratinocytes. Specific treatment targeting p40 subunit IL12 IL23 IL-17 usually effective. Granulomatous characterizes related NOD2 signaling defects. Defects ubiquitin-proteasome cause relopathies some interferonopathies defect proteasome function (CANDLE syndrome). Gain regulating production type I interferons lead severe conditions, interferonopathies. The JAK/STAT inhibitors effective these latter conditions. In conclusions, identification main intracellular involved rare monogenic allows not only proper classification different but also highlight pivotal role possible novel therapeutic targets for future.