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NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies.
Moltrasio C, Romagnuolo M, Marzano AV. Moltrasio C, et al. Front Immunol. 2022 Oct 6;13:1007705. doi: 10.3389/fimmu.2022.1007705. eCollection 2022. Front Immunol. 2022. PMID: 36275641 Free PMC article. Review.
During recent years, two new hereditary NLRP3-related disorders have been described, deafness autosomal dominant 34 (DFN34) and keratitis fugax hereditaria (KFH), with an exclusive cochlear- and anterior eye- restricted autoinflammation, respectively, and cau …
During recent years, two new hereditary NLRP3-related disorders have been described, deafness autosomal dominant 34 (DFN34) and keratitis …
Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene.
Turunen JA, Wedenoja J, Repo P, Järvinen RS, Jäntti JE, Mörtenhumer S, Riikonen AS, Lehesjoki AE, Majander A, Kivelä TT. Turunen JA, et al. Am J Ophthalmol. 2018 Apr;188:41-50. doi: 10.1016/j.ajo.2018.01.017. Epub 2018 Jan 31. Am J Ophthalmol. 2018. PMID: 29366613 Free article.
Keratitis Fugax Hereditaria Associated With a Novel NLRP3 Mutation in a Non-Finnish Patient.
Jatavallabhula K, Onyia O, Chung DD, Williams D, Wang K, Aldave AJ. Jatavallabhula K, et al. Cornea. 2024 Feb 1;43(2):253-256. doi: 10.1097/ICO.0000000000003399. Epub 2023 Oct 11. Cornea. 2024. PMID: 37823852
PURPOSE: The aim of this study was to report a novel heterozygous variant c.1712G>T (p.Gly571Val) in the nucleotide-binding domain, leucine-rich repeat family, pyrin domain-containing 3 gene ( NLRP3 ) in a previously unreported non-Finnish individual with keratitis f …
PURPOSE: The aim of this study was to report a novel heterozygous variant c.1712G>T (p.Gly571Val) in the nucleotide-binding domain, leuci …