Associated Papers
Longitudinal Analysis of Somatic Mosaicism and Clonal Hematopoiesis in Cryopyrin-Associated Periodic Syndrome.
Kato K et al.
Arthritis & Rheumatology (hoboken, N.j.), 2026
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
Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants.
Feng S et al.
Nature 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
The phenotype and genotype of Chinese adult patients with NLRP3-associated autoinflammatory disease.
Wu N et al.
Clinical Rheumatology, 2023
An updated review on phenocopies of primary immunodeficiency diseases.
Singh A et al.
Genes & Diseases, 2020
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
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
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
Cryopyrin-associated periodic syndrome: a case report and review of the Japanese literature.
Aoyama K et al.
Acta Dermato-venereologica, 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
Interleukin-1β inhibitors for the treatment of cryopyrin-associated periodic syndrome.
Dhimolea E
The Application of Clinical Genetics, 2011
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
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
A severe case of chronic infantile neurologic, cutaneous, articular syndrome treated with biologic agents.
Matsubara T et al.
Arthritis and Rheumatism, 2006
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