Associated Papers
Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.
Schmitz EG et al.
The Journal of Allergy and Clinical Immunology, 2026
Longitudinal Analysis of Somatic Mosaicism and Clonal Hematopoiesis in Cryopyrin-Associated Periodic Syndrome.
Kato K et al.
Arthritis & Rheumatology (hoboken, N.j.), 2026
Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants.
Feng S et al.
Nature Immunology, 2025
Clinical and Genetic Spectrum of Nine Cases of NLRP3-Associated Autoinflammatory Disease (NLRP3-AID) and Identification of One Novel NLRP3 Mutation by Genetic Variation Analyses.
Shangguan Y et al.
Journal of Immunology Research, 2024
Case Report: Efficacy, safety, and favorable long-term outcome of early treatment with IL-1 inhibitors in a patient with chronic infantile neurological cutaneous articular (CINCA) syndrome caused by NLRP3 mosaicism.
Costagliola G et al.
Frontiers in Pediatrics, 2024
Mimickers of Classical Urticaria: Cryopyrin-Associated Autoinflammatory Syndrome Presenting as Isolated Urticaria in an Infant.
Solomon BD et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2023
NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.
Louvrier C et al.
The Journal of Allergy and Clinical Immunology, 2020
An updated review on phenocopies of primary immunodeficiency diseases.
Singh A et al.
Genes & Diseases, 2020
Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes.
Samson JM et al.
Frontiers in Immunology, 2020
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
Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review.
Labrousse M et al.
Critical Reviews in Clinical Laboratory Sciences, 2018
Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.
Lasigliè D et al.
The Journal of Rheumatology, 2017
Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.
Sarrabay G et al.
Expert Review of Clinical Immunology, 2015
Hereditary autoinflammatory syndromes: a Brazilian multicenter study.
Jesus AA et al.
Journal of Clinical Immunology, 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
Inflammasome-associated nucleotide-binding domain, leucine-rich repeat proteins and inflammatory diseases.
Jha S et al.
Journal of Immunology (baltimore, Md. : 1950), 2009
New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes.
Maksimovic L et al.
Rheumatology (oxford, England), 2008
A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome.
Kanegane H et al.
European Journal of Pediatrics, 2008
NOD2 gene-associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort.
Aróstegui JI 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
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