CINCA syndrome

**CINCA syndrome** (chronic infantile neurological cutaneous and articular syndrome), also designated as neonatal-onset multisystem inflammatory disease (NOMID), is a rare, severe autoinflammatory disorder that represents the most debilitating form of cryopyrin-associated periodic syndromes (CAPS) Predominantly presenting in neonates or early infancy, the condition is driven by gain-of-function mutations—either germline or somatic mosaicism—in the *NLRP3* gene, which causes hyperactivation of th...

**CINCA syndrome** (chronic infantile neurological cutaneous and articular syndrome), also designated as neonatal-onset multisystem inflammatory disease (NOMID), is a rare, severe autoinflammatory disorder that represents the most debilitating form of cryopyrin-associated periodic syndromes (CAPS) It is clinically characterized by a classic triad consisting of a migratory, non-pruritic urticaria-like rash; central nervous system manifestations such as chronic aseptic meningitis, sensorineural he...

Predominantly presenting in neonates or early infancy, the condition is driven by gain-of-function mutations—either germline or somatic mosaicism—in the *NLRP3* gene, which causes hyperactivation of the NLRP3 inflammasome and uncontrolled overproduction of interleukin-1 beta (IL-1β) It is clinically characterized by a classic triad consisting of a migratory, non-pruritic urticaria-like rash; central nervous system manifestations such as chronic aseptic meningitis, sensorineural hearing loss, and...