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

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

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

Genetic predisposition (NLRP3 V198M mutation) for IL-1–mediated inflammation in a patient with Schnitzler syndrome

(2010) Jan Loock et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The Schnitzler syndrome

(2010) Dan Lipsker   Orphanet Journal of Rare Diseases

In vivo regulation of interleukin 1β in patients with cryopyrin-associated periodic syndromes

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

Efficacy and safety of rilonacept (interleukin-1 trap) in patients with cryopyrin-associated periodic syndromes: Results from two sequential placebo-controlled studies

(2008) Hal M. Hoffman et al.   ARTHRITIS AND RHEUMATISM

The spectrum of monogenic autoinflammatory syndromes: Understanding disease mechanisms and use of targeted therapies

(2008) Rachel L. Glaser et al.   CURRENT ALLERGY AND ASTHMA REPORTS