Сryopyrin-associated periodic syndrome

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Clinical conference presents 3 cases of cryopyrin-associated periodic syndrome (CAPS). CAPS includes three overlapping disorders: familial cold urticaria, Muckle-Wells syndrome, and neonatal onset multisystem inflammatory disorder (NOMID, also known as chronic infantile neurological cutaneous and articular [CINCA] syndrome). These hereditary autoinflammatory disorders have been found to share a common genetic basis, pathogenesis and treatment and are therefore now considered a continuous clinical spectrum of a single entity. All cryopyrinopathies are caused by dominantly inherited or de novo mutations in the NLRP3 gene. These mutations lead to increased activation of the inflammasome, secretion of interleukin-1β and development of systemic inflammation.

Key words

Аutoinflammation, cryopyrin-associated periodic syndrome, IL-1 inhibitors.