Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted SomaticNLRP3Mutation

Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome

(2015) Heleen D. de Koning et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

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

(2013) Kenji Nakagawa et al.   ANNALS OF THE RHEUMATIC DISEASES

A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin

(2013) Seza Ozen et al.   Nature Reviews Rheumatology

Brief Report: Whole-Exome Sequencing Revealing SomaticNLRP3Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome

(2013) Ebun Omoyinmi et al.   Arthritis & Rheumatology

Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery

(2012) T. Tanaka et al.   BLOOD

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

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