Associated Papers
Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants.
Feng S et al.
Nature Immunology, 2025
HSP90β controls NLRP3 autoactivation.
Spel L et al.
Science Advances, 2024
Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature.
Liu J et al.
Pediatric Rheumatology Online Journal, 2023
Rare mutations in NLRP3 and NLRP12 associated with familial cold autoinflammatory syndrome: two Chinese pedigrees.
Chen S et al.
Clinical Rheumatology, 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
MCC950/CRID3 potently targets the NACHT domain of wild-type NLRP3 but not disease-associated mutants for inflammasome inhibition.
Vande Walle L et al.
Plos Biology, 2019
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
Gene mutations and clinical phenotypes in 15 Chinese children with cryopyrin-associated periodic syndrome (CAPS).
Li C et al.
Science China. Life Sciences, 2017
A clinical update on inflammasomopathies.
Sönmez HE et al.
International Immunology, 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
Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing.
Xia X et al.
Plos One, 2016
Clinical utility gene card for: prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes).
Witsch-Baumgartner M et al.
European Journal of Human Genetics : Ejhg, 2015
An unusual urticarial eruption: Familial cold autoinflammatory syndrome.
Nguyen R et al.
The Australasian Journal of Dermatology, 2015
[Cryopyrine-associated periodic syndrome: CAPS seen from adulthood].
Koné-Paut I
La Revue De Medecine Interne, 2015
Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.
Sarrabay G et al.
Expert Review of Clinical Immunology, 2015
Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature.
Touitou I
Journal of Medical Genetics, 2013
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 clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.
Aksentijevich I et al.
Arthritis and Rheumatism, 2007
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
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