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CAPS and NLRP3

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Abstract

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.

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Funding

NIH grants—RO1 HL126703, KD113592, and HL140898.

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  1. Division of Pediatric Allergy, Immunology, and Rheumatology, Rady Children’s Hospital of San Diego, University of California, San Diego, San Diego, CA, USA

    Laela M. Booshehri & Hal M. Hoffman

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Dr. Hoffman has received speaking fees from Novartis; consulting fees from Novartis, SOBI, Regeneron, and IFM; and research funds from Glaxo Wellcome, Vertex, Burroughs Wellcome, and Jecure.

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Booshehri, L.M., Hoffman, H.M. CAPS and NLRP3. J Clin Immunol 39, 277–286 (2019). https://doi.org/10.1007/s10875-019-00638-z

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