CAPS and NLRP3
| Autor: | Hal M. Hoffman, Laela M. Booshehri |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Inflammasomes
Immunology Central nervous system Autoimmunity Inflammation Disease Article Proinflammatory cytokine Muckle–Wells syndrome Familial Cold Autoinflammatory Syndrome NLR Family Pyrin Domain-Containing 3 Protein Animals Humans Immunology and Allergy Medicine integumentary system business.industry Cryopyrin-associated periodic syndrome Inflammasome medicine.disease Cryopyrin-Associated Periodic Syndromes medicine.anatomical_structure Gain of Function Mutation medicine.symptom business medicine.drug |
| Zdroj: | J Clin Immunol |
| ISSN: | 1573-2592 0271-9142 |
| DOI: | 10.1007/s10875-019-00638-z |
| Popis: | Cryopyrin-associated periodic syndrome (CAPS) is a rare inherited autoinflammatory disorder characterized by systemic, cutaneous, musculoskeletal, and central nervous system inflammation. Gain-of-function mutations in NLRP3 in CAPS patients lead to activation of the cryopyrin inflammasome, resulting in the inappropriate release of inflammatory cytokines including IL-1β and CAPS-related inflammatory symptoms. Several mechanisms have been identified that are important for the normal regulation of the cryopyrin inflammasome in order to prevent uncontrolled inflammation. Investigators have taken advantage of some of these pathways to develop and apply novel targeted therapies, which have resulted in improved quality of life for patients with this orphan disease. |
| Databáze: | OpenAIRE |
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