Associated Papers
Low-level NLRP3 mosaicism in chronic urticarial lesions: extending the phenotypic spectrum of NLRP3-related disorders and therapeutic implications.
Daskalopoulou A et al.
The British Journal of Dermatology, 2025
Dysregulation of inflammasomes in autoinflammatory diseases.
Hou C et al.
Joint Bone Spine, 2025
Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism.
Bonet N et al.
Journal of Clinical Immunology, 2025
Somatic NLRP3 mosaicism in patients with "mutation-negative" CAPS: insights from a single centre UK cohort.
Melo Gomes S et al.
Frontiers in Pediatrics, 2025
A case of cryopyrin-associated periodic syndrome due to somatic mosaic mutation complicated with recurrent circinate erythematous psoriasis.
Ando T et al.
Modern Rheumatology Case Reports, 2024
Novel chemotype NLRP3 inhibitors that target the CRID3-binding pocket with high potency.
Vande Walle L et al.
Life Science Alliance, 2024
Chromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review.
Sun B 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
Necrotizing Funisitis as an Intrauterine manifestation of Cryopyrin-Associated Periodic Syndrome: a case report and review of the literature.
Yokoi K et al.
Pediatric Rheumatology Online Journal, 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
Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria.
Assrawi E et al.
The Journal of Investigative Dermatology, 2020
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
Low-frequency mosaicism in cryopyrin-associated periodic fever syndrome: mosaicism in systemic autoinflammatory diseases.
Nishikomori R et al.
International Immunology, 2019
The First Case Series of Cryopyrin-Associated Periodic Syndrome in Korea.
Han JH et al.
Allergy, Asthma & Immunology Research, 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
Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.
Nakayama M et al.
Biochemistry and Biophysics Reports, 2017
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi E et al.
Plos One, 2017
Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience.
Rowczenio DM et al.
Frontiers in Immunology, 2017
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.
Rusmini M et al.
Annals of the Rheumatic Diseases, 2016
Neurology of the cryopyrin-associated periodic fever syndrome.
Parker T et al.
European Journal of Neurology, 2016
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.
Nakagawa K et al.
Annals of the Rheumatic Diseases, 2015
Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.
Sarrabay G et al.
Expert Review of Clinical Immunology, 2015
Neonatal treatment of CINCA syndrome.
Paccaud Y et al.
Pediatric Rheumatology Online Journal, 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
High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study.
Tanaka N et al.
Arthritis and Rheumatism, 2011
The inflammasomes in health and disease: from genetics to molecular mechanisms of autoinflammation and beyond.
Conforti-Andreoni C et al.
Cellular & Molecular Immunology, 2011
Mast cells mediate neutrophil recruitment and vascular leakage through the NLRP3 inflammasome in histamine-independent urticaria.
Nakamura Y et al.
The Journal of Experimental Medicine, 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