Associated Papers
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
41026232 (PubMed )
Supplement: 10875_2025_1922_MOESM1_ESM.docx
Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants.
Feng S et al.
Nature Immunology, 2025
Case Report: A de novo NLRP3 variant resulting in autoinflammatory disease in a Chinese newborn.
Xie M et al.
Frontiers in Immunology, 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
Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience.
Rowczenio DM et al.
Frontiers in Immunology, 2017
Neurology of the cryopyrin-associated periodic fever syndrome.
Parker T et al.
European Journal of Neurology, 2016
Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.
Sarrabay G et al.
Expert Review of Clinical Immunology, 2015
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