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
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
Low-level NLRP3 somatic mosaicism in adult-onset cryopyrin-associated periodic syndrome misdiagnosed as chronic urticaria.
Pesqué D et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2024
Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations.
Carneiro-Sampaio M et al.
Frontiers in Pediatrics, 2022
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
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
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi E et al.
Plos One, 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
Brief Report: whole-exome sequencing revealing somatic NLRP3 mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome.
Omoyinmi E et al.
Arthritis & Rheumatology (hoboken, N.j.), 2014
Neonatal treatment of CINCA syndrome.
Paccaud Y et al.
Pediatric Rheumatology Online Journal, 2014
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