SomaticNLRP3mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes

First report of vertical transmission of a somaticNLRP3mutation in cryopyrin-associated periodic syndromes: Table 1

(2013) Santiago Jiménez-Treviño et al.   ANNALS OF THE RHEUMATIC DISEASES

Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing

(2012) K. Izawa et al.   DNA RESEARCH

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter collaborative study

(2011) Naoko Tanaka et al.   ARTHRITIS AND RHEUMATISM

Audiometric characteristics of a Dutch family with Muckle-Wells syndrome

(2011) N.J.D. Weegerink et al.   HEARING RESEARCH

Characterization of NLRP3 Variants in Japanese Cryopyrin-Associated Periodic Syndrome Patients

(2011) Hidenori Ohnishi et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France

(2010) L. Cuisset et al.   ANNALS OF THE RHEUMATIC DISEASES

A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism unde

(2010) Juan I. Aróstegui et al.   ARTHRITIS AND RHEUMATISM

Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome

(2010) Jasmin B. Kuemmerle-Deschner et al.   ARTHRITIS AND RHEUMATISM

An unusual phenotype in Muckle-Wells syndrome associated with NLRP3 E311K

(2010) G. Murphy et al.   RHEUMATOLOGY

The Inflammasomes: Guardians of the Body

(2009) Fabio Martinon et al.   Annual Review of Immunology

Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome

(2009) Bénédicte Neven et al.   ARTHRITIS AND RHEUMATISM

Use of Canakinumab in the Cryopyrin-Associated Periodic Syndrome

(2009) Helen J. Lachmann et al.   NEW ENGLAND JOURNAL OF MEDICINE