4A60.1
category
Cryopyrin-associated periodic syndromes
Definition
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
Also indexed as
CAPS - [Cryopyrin-associated periodic syndromes]CINCA - [Chronic infantile neurological, cutaneous and articular] syndromeChronic infantile neurological cutaneous and articular syndrome with CNS diseaseChronic infantile neurological, cutaneous and articular syndromeCryopyrin-associated periodic syndromesCryopyrinopathiesFamilial cold autoinflammatory syndromeFamilial cold urticariaIOMID - [Infantile-onset multisystem inflammatory disease]Infantile-onset multisystem inflammatory diseaseMuckle Wells Syndrome with amyloidosisMuckle Wells Syndrome with neurosensorial hearing lossMuckle-Wells syndromeNOMID - [Neonatal-onset multisystem inflammatory disease]Neonatal-onset multisystem inflammatory diseasePrieur-Griscelli syndromeUrticaria - deafness - amyloidosis