Associated Papers
Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants.
Feng S et al.
Nature Immunology, 2025
Differential Binding of NLRP3 to non-oxidized and Ox-mtDNA mediates NLRP3 Inflammasome Activation.
Cabral A et al.
Communications Biology, 2023
Case Report: A de novo NLRP3 variant resulting in autoinflammatory disease in a Chinese newborn.
Xie M et al.
Frontiers in Immunology, 2023
Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature.
Zhou Y et al.
Orphanet Journal of Rare Diseases, 2022
Inflammasome Genetic Variants, Macrophage Function, and Clinical Outcomes in Cystic Fibrosis.
Graustein AD et al.
American Journal of Respiratory Cell and Molecular Biology, 2021
An updated review on phenocopies of primary immunodeficiency diseases.
Singh A et al.
Genes & Diseases, 2020
Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes.
Samson JM et al.
Frontiers in Immunology, 2020
Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review.
Labrousse M et al.
Critical Reviews in Clinical Laboratory Sciences, 2018
Clinical and Molecular Phenotypes of Low-Penetrance Variants of NLRP3: Diagnostic and Therapeutic Challenges.
Kuemmerle-Deschner JB et al.
Arthritis & Rheumatology (hoboken, N.j.), 2017
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.
Papa R et al.
Orphanet Journal of Rare Diseases, 2017
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.
Nakagawa K et al.
Annals of the Rheumatic Diseases, 2015
Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.
Sarrabay G et al.
Expert Review of Clinical Immunology, 2015
Anakinra use during pregnancy in patients with cryopyrin-associated periodic syndromes (CAPS).
Chang Z et al.
Arthritis & Rheumatology (hoboken, N.j.), 2014
Hereditary autoinflammatory syndromes: a Brazilian multicenter study.
Jesus AA et al.
Journal of Clinical Immunology, 2012
High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study.
Tanaka N et al.
Arthritis and Rheumatism, 2011
The inflammasome, an innate immunity guardian, participates in skin urticarial reactions and contact hypersensitivity.
Kambe N et al.
Allergology International : Official Journal of the Japanese Society of Allergology, 2010
Critical appraisal of canakinumab in the treatment of adults and children with cryopyrin-associated periodic syndrome (CAPS).
Toker O et al.
Biologics : Targets & Therapy, 2010
Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients.
Saito M et al.
Blood, 2008
The anesthetic management of children with neonatal-onset multi-system inflammatory disease.
Lauro CF et al.
Anesthesia and Analgesia, 2007
The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.
Aksentijevich I et al.
Arthritis and Rheumatism, 2007
A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin).
Koike R et al.
Modern Rheumatology, 2007
Familial autoinflammatory diseases: genetics, pathogenesis and treatment.
Stojanov S et al.
Current Opinion in Rheumatology, 2005
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.
Neven B et al.
Blood, 2004