Associated Papers
From Urticaria to Correct Diagnosis: A Case Report of Cryopyrin-Associated Periodic Syndromes.
Wang X et al.
Journal of Asthma and Allergy, 2025
Phenotypic and genotypic characterization of Chinese adult patients with NLRP3-associated autoinflammatory disease with hearing loss.
Wu B et al.
Rheumatology (oxford, England), 2024
The genetic and clinical characteristics and effects of Canakinumab on cryopyrin-associated periodic syndrome: a large pediatric cohort study from China.
Shu Z et al.
Frontiers in Immunology, 2023
Rare mutations in NLRP3 and NLRP12 associated with familial cold autoinflammatory syndrome: two Chinese pedigrees.
Chen S et al.
Clinical Rheumatology, 2022
NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies.
Moltrasio C et al.
Frontiers in Immunology, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Case of cryopyrin-associated periodic syndrome who recovered from growth delay by treatment with canakinumab.
Yu Y et al.
The Journal of Dermatology, 2021
Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes.
Samson JM et al.
Frontiers in Immunology, 2020
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
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
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
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
Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation.
Alejandre N et al.
Rheumatology (oxford, England), 2014
A patient with a phenotype of adult-onset still disease, but a genotype typical of cryopyrin-associated periodic fever syndrome.
Eriksson P et al.
The Journal of Rheumatology, 2013
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
A probable case of Muckle-Wells syndrome.
Kagami S et al.
The Journal of Dermatology, 2006
Cryopyrin-induced interleukin 1beta secretion in monocytic cells: enhanced activity of disease-associated mutants and requirement for ASC.
Dowds TA et al.
The Journal of Biological Chemistry, 2004
Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.
Hoffman HM et al.
Human Genetics, 2003