4A60.1
Cryopyrin-associated periodic syndromes
Síndromes periódicas associadas à criopirina
CategoryDefinition
CAPS is a “disease” with clear symptomatology, clear linkage to a gene as etiology, with a defined course and treatment. CAPS is a autosomal dominantly inherited autoinflammatory disease associated with heterozygous mutations in a gene called NLRP3 (Nucleotide binding site Leucine rich Repeat Pyrin 3) which codes for the cyropyrin protein [ ], leading to excess interleukin 1beta (IL-1beta) production [ ].
Inclusions
- Cryopyrinopathies
Index Terms
Cryopyrin-associated periodic syndromesCAPS - [Cryopyrin-associated periodic syndromes]CryopyrinopathiesChronic infantile neurological, cutaneous and articular syndromeInfantile-onset multisystem inflammatory diseaseNeonatal-onset multisystem inflammatory diseasePrieur-Griscelli syndromeNOMID - [Neonatal-onset multisystem inflammatory disease]IOMID - [Infantile-onset multisystem inflammatory disease]CINCA - [Chronic infantile neurological, cutaneous and articular] syndromeChronic infantile neurological cutaneous and articular syndrome with CNS diseaseFamilial cold autoinflammatory syndromeFamilial cold urticariaMuckle-Wells syndromeUrticaria - deafness - amyloidosisMuckle Wells Syndrome with amyloidosisMuckle Wells Syndrome with neurosensorial hearing loss