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Review
. 2023:2696:281-297.
doi: 10.1007/978-1-0716-3350-2_19.

A Knock-In Mouse Model of Cryopyrin-Associated Periodic Syndromes

Arinna Bertoni  1 , Ignazia Prigione  2 , Sabrina Chiesa  2 , Isabella Ceccherini  3 , Marco Gattorno  2 , Anna Rubartelli  2
Affiliations
Review

A Knock-In Mouse Model of Cryopyrin-Associated Periodic Syndromes

Arinna Bertoni et al. Methods Mol Biol. 2023.

Abstract

Autoinflammatory diseases are a group of distinct disorders characterized by recurrent fever and inflammatory manifestations predominantly mediated by cytokines of the innate immune system, particularly IL-1β, without involvement of autoantibodies or autoreactive T lymphocytes. Cryopyrin-associated periodic syndromes (CAPS), due to NLRP3 gene mutations, represent the prototype of these diseases. Owing to their genetic nature, most of these disorders have an early onset, ranging from the first hours to the first decade of life. Due to the rarity of CAPS patients and to the limitations of working with pediatric samples, the development of animal models of this disease is of great help for studying both pathophysiology and therapeutic strategies. In this chapter, we review the generation and characterization of a knock-in mouse bearing the NLRP3 gene with the N475K mutation, associated with CINCA, the most severe form of human CAPS.

Keywords: Autoinflammatory diseases; Bone marrow precursors; CAPS; IL-1β secretion; Knock-in mouse for NLRP3 gene.

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References

    1. Gattorno M, Martini A (2013) Beyond the NLRP3 inflammasome: autoinflammatory diseases reach adolescence. Arthritis Rheum 65(5):1137–1147. https://doi.org/10.1002/art.37882 - DOI - PubMed
    1. Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J (2004) NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 20(3):319–325. https://doi.org/10.1016/s1074-7613(04)00046-9 - DOI - PubMed
    1. Dinarello CA, Fossati G, Mascagni P (2011) Histone deacetylase inhibitors for treating a spectrum of diseases not related to cancer. Mol Med 17(5–6):333–352. https://doi.org/10.2119/molmed.2011.00116 - DOI - PubMed - PMC
    1. Martinon F, Petrilli V, Mayor A, Tardivel A, Tschopp J (2006) Gout-associated uric acid crystals activate the NALP3 inflammasome. Nature 440(7081):237–241. https://doi.org/10.1038/nature04516 - DOI - PubMed
    1. Brydges SD, Mueller JL, McGeough MD, Pena CA, Misaghi A, Gandhi C, Putnam CD, Boyle DL, Firestein GS, Horner AA, Soroosh P, Watford WT, O’Shea JJ, Kastner DL, Hoffman HM (2009) Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity. Immunity 30(6):875–887. https://doi.org/10.1016/j.immuni.2009.05.005 - DOI - PubMed - PMC

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