Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry

Atypical presentation of a cryopyrin-associated periodic syndrome, revealing a novel NLRP3 mutation

(2013) E. Canouï et al.   CLINICAL IMMUNOLOGY

Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature

(2013) Dorota M Rowczenio et al.   ARTHRITIS RESEARCH & THERAPY

An International registry on Autoinflammatory diseases: the Eurofever experience

(2012) Natasa Toplak et al.   ANNALS OF THE RHEUMATIC DISEASES

Brief Report: AA Amyloidosis Complicating the Hereditary Periodic Fever Syndromes

(2012) Thirusha Lane et al.   ARTHRITIS AND RHEUMATISM

The Q705K Polymorphism in NLRP3 Is a Gain-of-Function Alteration Leading to Excessive Interleukin-1β and IL-18 Production

(2012) Deepti Verma et al.   PLoS One

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

NLRP3 E311K mutation in a large family with Muckle-Wells syndrome - description of a heterogeneous phenotype and response to treatment

(2011) Jasmin B Kuemmerle-Deschner et al.   ARTHRITIS RESEARCH & THERAPY

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

Analysis of Cryopyrin-Associated Periodic Syndromes (CAPS) in German Children: Epidemiological, Clinical and Genetic Characteristics

(2010) E. Lainka et al.   KLINISCHE PADIATRIE

Neurologic manifestations of the cryopyrin-associated periodic syndrome

(2010) J. L. Kitley et al.   NEUROLOGY

A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 trap) in patients with familial cold autoinflammatory syndrome

(2008) Raphaela Goldbach-Mansky et al.   ARTHRITIS AND RHEUMATISM