Associated Papers
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
NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies.
Moltrasio C et al.
Frontiers in Immunology, 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
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
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
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
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
An unusual urticarial eruption: Familial cold autoinflammatory syndrome.
Nguyen R et al.
The Australasian Journal of Dermatology, 2015
Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.
Sarrabay G et al.
Expert Review of Clinical Immunology, 2015
Impaired cytokine responses in patients with cryopyrin-associated periodic syndrome (CAPS).
Haverkamp MH et al.
Clinical and Experimental Immunology, 2014
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
Cryopyrin-induced interleukin 1beta secretion in monocytic cells: enhanced activity of disease-associated mutants and requirement for ASC.
Dowds TA et al.
The Journal of Biological Chemistry, 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
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