Thelansis

 Cryopyrin-associated Periodic Syndrome (CAPS) is a group of autoinflammatory disorders characterized by recurrent episodes of systemic inflammation. It comprises 3 distinct disorders that vary in severity: CINCA, Muckle-Wells, and familial cold urticaria. These disorders are caused by mutations in the NLRP3 gene, which encodes for the protein cryopyrin. These mutations result in a gain of function of cryopyrin, leading to increased secretion of IL-1 beta and dysregulated inflammation. The clinical presentation of CAPS can vary among patients with identical mutations. Differential diagnoses include systemic-onset juvenile idiopathic arthritis, rheumatoid arthritis, and systemic lupus erythematosus. The most effective treatment is IL-1 blockade using anakinra, rilonacept, or canakinumab. With optimal treatment adjustments, the progression of hearing loss and vision loss can be halted in most patients. ·        The prevalence in France is estimated to ...

 Cryopyrin-associated Periodic Syndrome (CAPS) is a group of autoinflammatory disorders characterized by recurrent episodes of systemic inflammation. It comprises 3 distinct disorders that vary in severity: CINCA, Muckle-Wells, and familial cold urticaria. These disorders are caused by mutations in the NLRP3 gene, which encodes for the protein cryopyrin. These mutations result in a gain of function of cryopyrin, leading to increased secretion of IL-1 beta and dysregulated inflammation. The clinical presentation of CAPS can vary among patients with identical mutations. Differential diagnoses include systemic-onset juvenile idiopathic arthritis, rheumatoid arthritis, and systemic lupus erythematosus. The most effective treatment is IL-1 blockade using anakinra, rilonacept, or canakinumab. With optimal treatment adjustments, the progression of hearing loss and vision loss can be halted in most patients. ·        The prevalence in France is estimated to ...