The inherited autoinflammatory syndrome: a decade of discovery.

摘要: The hereditary autoinflammatory diseases arise from mutations of genes regulating the innate immune system. These rare disorders are well characterized, both clinically and in terms their molecular pathogenesis. recurrent attacks febrile polyserositis Familial Mediterranean Fever (FMF) due to defective pyrin, a protein that down-regulates inflammation. Hyperimmunoglobulinemia D Syndrome (HIDS), which mimics FMF, results genetically conferred deficiency mevalonate kinase. TRAPS (TNF Receptor Associated Periodic Syndrome), formerly known as Hibernian Fever, is caused by membrane receptor for TNF. Three other overlap clinical expression - Cold Autoinflammatory Syndrome, Muckle Wells syndrome, Neonatal Onset Multisystem Inflamatory Disease (NOMID) consequence gain-of-function gene encoding cryopyrin, scaffolding inflammasome. PAPA syndrome (Pyogenic Arthritis, Pyoderma gangrenosum, Acne) increases binding its product (PSPSTPIP1) thereby blunting inhibitory effect pyrin on inflammasome activation.