Associated Papers
Rapid validation of NLRP3 gain-of-function variants in cryopyrin-associated periodic syndromes.
Quach A et al.
The Journal of Allergy and Clinical Immunology, 2025
Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants.
Feng S et al.
Nature Immunology, 2025
The phenotype and genotype of Chinese adult patients with NLRP3-associated autoinflammatory disease.
Wu N et al.
Clinical Rheumatology, 2023
Case Report: A de novo NLRP3 variant resulting in autoinflammatory disease in a Chinese newborn.
Xie M et al.
Frontiers in Immunology, 2023
A unique presentation of NLRP3-associated autoinflammatory disease: case report.
Ducharme-Bénard S et al.
Bmc Rheumatology, 2022
Full etiologic spectrum of pediatric severe to profound hearing loss of consecutive 119 cases.
Kim YS et al.
Scientific Reports, 2022
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
Outcome of Cochlear Implantation in NLRP3-related Autoinflammatory Inner Ear Disorders.
Kim BJ et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2021
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
Cryopyrin-associated periodic syndrome in Australian children and adults: Epidemiological, clinical and treatment characteristics.
Mehr S et al.
Journal of Paediatrics and Child Health, 2016
Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.
Sarrabay G et al.
Expert Review of Clinical Immunology, 2015
[Report of a child with neonatal-onset multisystem inflammatory disease and review of the literature].
Guan N et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing.
Izawa K et al.
Dna Research : an International Journal for Rapid Publication of Reports on Genes and Genomes, 2012
The inflammasomes in health and disease: from genetics to molecular mechanisms of autoinflammation and beyond.
Conforti-Andreoni C et al.
Cellular & Molecular Immunology, 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
Inflammasome-associated nucleotide-binding domain, leucine-rich repeat proteins and inflammatory diseases.
Jha S et al.
Journal of Immunology (baltimore, Md. : 1950), 2009
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 clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.
Aksentijevich I et al.
Arthritis and Rheumatism, 2007
PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome: role of PYPAF1 in inflammation.
Jéru I et al.
Arthritis and Rheumatism, 2006
Structural, expression, and evolutionary analysis of mouse CIAS1.
Anderson JP et al.
Gene, 2004
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
Structural localization of disease-associated sequence variations in the NACHT and LRR domains of PYPAF1 and NOD2.
Albrecht M et al.
Febs Letters, 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
Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes.
Cantarini L et al.
International Journal of Immunopathology and Pharmacology, 0