[Hereditary systemic autoinflammatory diseases. Part II: cryopyrin-associated periodic syndromes, pediatric systemic granulomatosis and PAPA syndrome].
Hereditary systemic autoinflammatory diseases result from a genetically-based dysregulated inflammatory process, and are clinically characterized by recurrent or persistent systemic inflammatory episodes, which typically occur in the absence of infectious, neoplastic or autoimmune etiology. Elucidation of their molecular basis has enabled the use of genetic analyses to achieve an accurate and definitive diagnosis, and to establish a tailored treatment. The present review is the second and last part of an updated and comprehensive overview of hereditary systemic autoinflammatory diseases, and will introduce persistent, non-periodic autoinflammatory diseases, such as: a) the group of cryopyrin-associated periodic syndromes (CAPS), which includes familial cold-induced autoinflammatory syndrome (FCAS), Muckle-Wells syndrome, and CINCA-NOMID syndrome; b) the group of pediatric systemic granulomatosis, which includes both Blau syndrome and early-onset sarcoidosis, and c) the pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome.
Aróstegui
Juan I
JI
Unidad de Enfermedades Autoinflamatorias Sistémicas, Servicio de Inmunología, Centro de Diagnóstico Biomédico (CDB), Hospital Clínic, Barcelona, Spain. jiaroste@clinic.ub.es
Yagüe
Jordi
J
D000152:Acne Vulgaris / Q000175:diagnosis; D001170:Arthritis, Infectious / Q000175:diagnosis; D001327:Autoimmune Diseases / Q000175:diagnosis; D002352:Carrier Proteins; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis; D006801:Humans; D007249:Inflammation / Q000175:diagnosis / Q000276:immunology*; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D017511:Pyoderma Gangrenosum / Q000175:diagnosis; D013577:Syndrome
D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human