Abstract

SANCHEZ SEGURA, Miriam et al. Cryopiryn-associated peryodic syndrome: etiopathogenesis, clinical features, diagnosis and treatment. Rev Cubana Hematol Inmunol Hemoter [online]. 2016, vol.32, n.3, pp.325-339. ISSN 0864-0289.

Monogenic autoinflammatory disorders encompass a group of diseases characterized by spontaneous and recurring fever and systemic inflammation in the absence of infection, autoantibodies or specific T cells for self antigens (self-reactive). These conditions are caused by mutations in genes encoding proteins that play a key role in the regulation of innate inflammatory response and are considered primary immunodeficiencies. Diseases comprising these syndromes represent a different clinical spectrum of mutations, with gain of function of a gene called NLRP3 or CIAS1 encoding cryopyrin protein, hence these disorders are also known under the name cryopyrinpathies. Among these are the cryopyrin-associated periodic syndrome which include three conditions: familial cold autoinflammatory syndrome; Muckle-Wells syndrome and chronic infantile neurological, cutaneous and articular syndrome. In clinical terms, it is characterized by urticarial rash, periodic fever, inflammation of central nervous system (CNS), arthropathy, ocular manifestations and risk of amyloidosis as a long-term complication. The key role of cryopirin in the release of IL-β suggests rational approach to implement anti-IL-1 therapy for the treatment of these syndromes.  The administration of drugs such as anakinra, canakinumab, and rilonacept shows a marked effect on the control of inflammatory manifestations, as well as clinical and laboratory parameters in these syndromes effect. The pathogenesis of these entities, as well as their main clinical features, diagnosis and treatment are described.

Keywords : autoinflammatory syndromes; inflammasome; inflammation; cryopirin; innate immune system.

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