Associated Papers
Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants.
Feng S et al.
Nature Immunology, 2025
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
Otological aspects of NLRP3-related autoinflammatory disorder focusing on the responsiveness to anakinra.
Kim BJ et al.
Rheumatology (oxford, England), 2021
Behçet's Syndrome in a Chinese Pedigree of NLRP3-Associated Autoinflammatory Disease: A Coexistence or Novel Presentation?
Liu J et al.
Frontiers in Medicine, 2021
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.
Vitale A et al.
Internal and Emergency Medicine, 2017
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
Martorana D et al.
Frontiers in Immunology, 2017
Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing.
Xia X et al.
Plos One, 2016
Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.
Sarrabay G et al.
Expert Review of Clinical Immunology, 2015
The inflammasomes in health and disease: from genetics to molecular mechanisms of autoinflammation and beyond.
Conforti-Andreoni C et al.
Cellular & Molecular Immunology, 2011
Inflammasome-associated nucleotide-binding domain, leucine-rich repeat proteins and inflammatory diseases.
Jha S et al.
Journal of Immunology (baltimore, Md. : 1950), 2009
Associations of functional NLRP3 polymorphisms with susceptibility to food-induced anaphylaxis and aspirin-induced asthma.
Hitomi Y et al.
The Journal of Allergy and Clinical Immunology, 2009
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
Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment.
Boschan C et al.
American Journal of Medical Genetics. Part A, 2006
PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome: role of PYPAF1 in inflammation.
Jéru I et al.
Arthritis and Rheumatism, 2006
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
Disease-associated variants in PYPAF1 and NOD2 result in similar alterations of conserved sequence.
Albrecht M et al.
Bioinformatics (oxford, England), 2003
Structural localization of disease-associated sequence variations in the NACHT and LRR domains of PYPAF1 and NOD2.
Albrecht M et al.
Febs Letters, 2003
Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.
Hoffman HM et al.
Human Genetics, 2003
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.
Aksentijevich I et al.
Arthritis and Rheumatism, 2002
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
Feldmann J et al.
American Journal of Human Genetics, 2002
Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation.
Abdulla MC et al.
Journal of Postgraduate Medicine, 0