Associated Papers
Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants.
Feng S et al.
Nature Immunology, 2025
The discovery of NLRP3 and its function in cryopyrin-associated periodic syndromes and innate immunity.
Putnam CD et al.
Immunological Reviews, 2024
Rare mutations in NLRP3 and NLRP12 associated with familial cold autoinflammatory syndrome: two Chinese pedigrees.
Chen S et al.
Clinical Rheumatology, 2022
IL-1 and autoinflammatory disease: biology, pathogenesis and therapeutic targeting.
Broderick L et al.
Nature Reviews. Rheumatology, 2022
The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist.
Romano M et al.
Arthritis & Rheumatology (hoboken, N.j.), 2022
The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist.
Romano M et al.
Annals of the Rheumatic Diseases, 2022
Rare genetic causes of meningitis and encephalitis.
Moon J
Encephalitis (seoul, Korea), 2022
PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and adenitis) syndrome: an overview of genetic background.
Asna Ashari K et al.
Clinical Rheumatology, 2021
Inflammasome Genetic Variants, Macrophage Function, and Clinical Outcomes in Cystic Fibrosis.
Graustein AD et al.
American Journal of Respiratory Cell and Molecular Biology, 2021
Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today?
Welzel T et al.
Journal of Clinical Medicine, 2021
A case of cryopyrin-associated periodic fever syndrome during canakinumab administration complicated by inflammatory bowel disease.
Yamasaki Y et al.
Clinical Rheumatology, 2021
A Novel DSP Truncating Variant in a Family with Episodic Myocardial Injury in the Course of Arrhythmogenic Cardiomyopathy-A Possible Role of a Low Penetrance NLRP3 Variant.
Chmielewski P et al.
Diagnostics (basel, Switzerland), 2020
Increased Prevalence of NLRP3 Q703K Variant Among Patients With Autoinflammatory Diseases: An International Multicentric Study.
Theodoropoulou K et al.
Frontiers in Immunology, 2020
Current and future advances in genetic testing in systemic autoinflammatory diseases.
Schnappauf O et al.
Rheumatology (oxford, England), 2019
Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases.
Ter Haar NM et al.
Annals of the Rheumatic Diseases, 2019
Behçet's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes.
Burillo-Sanz S et al.
Scientific Reports, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome - PFAPA syndrome.
Wekell P
Presse Medicale (paris, France : 1983), 2019
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.
Torres A et al.
Molecular Genetics and Metabolism Reports, 2018
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.
Rae W et al.
Clinical Genetics, 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
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
[Genetics of cryopyrin-associated periodic syndrome].
Kümmerle-Deschner JB et al.
Zeitschrift Fur Rheumatologie, 2017
Periodic Fever with Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome Is Associated with a CARD8 Variant Unable To Bind the NLRP3 Inflammasome.
Cheung MS et al.
Journal of Immunology (baltimore, Md. : 1950), 2017
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
Martorana D et al.
Frontiers in Immunology, 2017
Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome: a Review of the Pathogenesis.
Theodoropoulou K et al.
Current Rheumatology Reports, 2016
An unusual urticarial eruption: Familial cold autoinflammatory syndrome.
Nguyen R et al.
The Australasian Journal of Dermatology, 2015
Polyradiculoneuritis, cryopyrin-associated periodic syndromes, and familial Mediterranean fever.
Nicolás-Sánchez FJ et al.
Neurologia (barcelona, Spain), 2015
Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.
Sarrabay G et al.
Expert Review of Clinical Immunology, 2015
The Pathogenesis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome: A Review of Current Research.
Kraszewska-Głomba B et al.
Mediators of Inflammation, 2015
The hereditary autoinflammatory disorders uncovered.
Rigante D et al.
Autoimmunity Reviews, 2014
Clinical and genetic characterization of Japanese sporadic cases of periodic Fever, aphthous stomatitis, pharyngitis and adenitis syndrome from a single medical center in Japan.
Kubota K et al.
Journal of Clinical Immunology, 2014
Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature.
Rowczenio DM et al.
Arthritis Research & Therapy, 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
PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome: role of PYPAF1 in inflammation.
Jéru I et al.
Arthritis and Rheumatism, 2006
Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene.
Aróstegui JI et al.
Arthritis and Rheumatism, 2004
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
The role of the F402L allele in the NLRP12-autoinflammatory disorder. Reply to: F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls, De Pieri et al.
Vitale A et al.
Clinical and Experimental Rheumatology, 0