Brief Report: whole-exome sequencing revealing somatic NLRP3 mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome.

PubWeight™: 0.93‹?›

🔗 View Article (PMC 3995009)

Published in Arthritis Rheumatol on January 01, 2014

Authors

Ebun Omoyinmi1, Sónia Melo Gomes, Ariane Standing, Dorota M Rowczenio, Despina Eleftheriou, Nigel Klein, Juan I Aróstegui, Helen J Lachmann, Philip N Hawkins, Paul A Brogan

Author Affiliations

1: University College London, London, UK.

Articles cited by this

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res (2010) 43.51

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences. Genome Biol (2010) 39.63

Galaxy: a platform for interactive large-scale genome analysis. Genome Res (2005) 35.75

Galaxy: a web-based genome analysis tool for experimentalists. Curr Protoc Mol Biol (2010) 17.00

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet (2001) 9.34

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet (2012) 3.41

The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum (2007) 2.88

wANNOVAR: annotating genetic variants for personal genomes via the web. J Med Genet (2012) 2.43

Exome sequencing: dual role as a discovery and diagnostic tool. Ann Neurol (2012) 1.89

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. Arthritis Rheum (2011) 1.61

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies. J Hum Genet (2011) 1.45

Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing. DNA Res (2012) 1.16

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 underlying mendelian inherited diseases. Arthritis Rheum (2010) 1.15

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). Am J Med Genet A (2011) 1.02

Risk factors for severe Muckle-Wells syndrome. Arthritis Rheum (2010) 0.98

Articles by these authors

NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity (2004) 13.55

Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum (2004) 7.07

Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med (2006) 6.17

Definition of organ involvement and treatment response in immunoglobulin light chain amyloidosis (AL): a consensus opinion from the 10th International Symposium on Amyloid and Amyloidosis, Tours, France, 18-22 April 2004. Am J Hematol (2005) 5.64

Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med (2009) 5.19

Natural history and outcome in systemic AA amyloidosis. N Engl J Med (2007) 4.54

Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med (2002) 4.47

T1 mapping for myocardial extracellular volume measurement by CMR: bolus only versus primed infusion technique. JACC Cardiovasc Imaging (2013) 4.21

Targeting C-reactive protein for the treatment of cardiovascular disease. Nature (2006) 4.07

Safety and efficacy of RNAi therapy for transthyretin amyloidosis. N Engl J Med (2013) 3.97

Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. N Engl J Med (2003) 3.86

Noncontrast T1 mapping for the diagnosis of cardiac amyloidosis. JACC Cardiovasc Imaging (2013) 3.53

Eprodisate for the treatment of renal disease in AA amyloidosis. N Engl J Med (2007) 3.38

New criteria for response to treatment in immunoglobulin light chain amyloidosis based on free light chain measurement and cardiac biomarkers: impact on survival outcomes. J Clin Oncol (2012) 3.35

Evaluation and management of the cardiac amyloidosis. J Am Coll Cardiol (2007) 3.12

Outcome in systemic AL amyloidosis in relation to changes in concentration of circulating free immunoglobulin light chains following chemotherapy. Br J Haematol (2003) 2.74

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63

Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. Arthritis Rheum (2002) 2.58

A European collaborative study of treatment outcomes in 346 patients with cardiac stage III AL amyloidosis. Blood (2013) 2.38

In vivo regulation of interleukin 1beta in patients with cryopyrin-associated periodic syndromes. J Exp Med (2009) 2.34

Infusion of pharmaceutical-grade natural human C-reactive protein is not proinflammatory in healthy adult human volunteers. Circ Res (2013) 2.26

Updates in cardiac amyloidosis: a review. J Am Heart Assoc (2012) 2.21

Bortezomib with or without dexamethasone in primary systemic (light chain) amyloidosis. J Clin Oncol (2010) 2.20

Rapid and complete resolution of proteinuria due to renal amyloidosis in a patient with rheumatoid arthritis treated with infliximab. Arthritis Rheum (2002) 2.19

Age and CD4 count at initiation of antiretroviral therapy in HIV-infected children: effects on long-term T-cell reconstitution. J Infect Dis (2011) 2.13

Cardiovascular magnetic resonance and prognosis in cardiac amyloidosis. J Cardiovasc Magn Reson (2008) 2.01

Proinflammatory effects of bacterial recombinant human C-reactive protein are caused by contamination with bacterial products, not by C-reactive protein itself. Circ Res (2005) 1.91

Therapeutic Clearance of Amyloid by Antibodies to Serum Amyloid P Component. N Engl J Med (2015) 1.84

Antibodies to human serum amyloid P component eliminate visceral amyloid deposits. Nature (2010) 1.81

Cyclophosphamide, bortezomib, and dexamethasone therapy in AL amyloidosis is associated with high clonal response rates and prolonged progression-free survival. Blood (2012) 1.80

B lymphocyte depletion therapy in children with refractory systemic lupus erythematosus. Arthritis Rheum (2005) 1.71

Abnormal tumor necrosis factor receptor I cell surface expression and NF-kappaB activation in tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum (2008) 1.61

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. Arthritis Rheum (2011) 1.61

Cardiovascular magnetic resonance measurement of myocardial extracellular volume in health and disease. Heart (2012) 1.56

Safety and efficacy of risk-adapted cyclophosphamide, thalidomide, and dexamethasone in systemic AL amyloidosis. Blood (2006) 1.54

Investigation of childhood central nervous system vasculitis: magnetic resonance angiography versus catheter cerebral angiography. Dev Med Child Neurol (2010) 1.53

Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum (2003) 1.51

Endothelial injury in childhood stroke with cerebral arteriopathy: a cross-sectional study. Neurology (2012) 1.47

Familial Mediterranean fever caused by homozygous E148Q mutation complicated by Budd-Chiari syndrome and polyarteritis nodosa. Rheumatology (Oxford) (2010) 1.44

Inflammatory bowel disease and systemic AA amyloidosis. Dig Dis Sci (2013) 1.43

Dense B cell infiltrates in paediatric renal transplant biopsies are predictive of allograft loss. Pediatr Transplant (2008) 1.43

Transcriptional instability during evolving sepsis may limit biomarker based risk stratification. PLoS One (2013) 1.41

Efficacy of bortezomib in systemic AL amyloidosis with relapsed/refractory clonal disease. Haematologica (2008) 1.38

Successful treatment of familial Mediterranean fever with Anakinra and outcome after renal transplantation. Nephrol Dial Transplant (2008) 1.37

An international registry on autoinflammatory diseases: the Eurofever experience. Ann Rheum Dis (2012) 1.36

Cardiac transplantation for amyloid heart disease: the United Kingdom experience. J Heart Lung Transplant (2004) 1.36

Systemic amyloidosis and the gastrointestinal tract. Nat Rev Gastroenterol Hepatol (2009) 1.34

Diagnostic performance of 123I-labeled serum amyloid P component scintigraphy in patients with amyloidosis. Am J Med (2006) 1.32

Decreased TNF-alpha synthesis by macrophages restricts cutaneous immunosurveillance by memory CD4+ T cells during aging. J Exp Med (2009) 1.29

Human plasma fibrinogen is synthesized in the liver. Blood (2006) 1.27

Biologic therapy in refractory chronic non-bacterial osteomyelitis of childhood. Rheumatology (Oxford) (2010) 1.27

Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin. N Engl J Med (2012) 1.26

Quantification of myocardial extracellular volume fraction in systemic AL amyloidosis: an equilibrium contrast cardiovascular magnetic resonance study. Circ Cardiovasc Imaging (2012) 1.25

A novel form of integrin dysfunction involving beta1, beta2, and beta3 integrins. J Clin Invest (2003) 1.24

Medium-size-vessel vasculitis. Pediatr Nephrol (2009) 1.23

Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. Hum Mutat (2014) 1.23

Sequential heart and autologous stem cell transplantation for systemic AL amyloidosis. Blood (2005) 1.22

Outcome in renal Al amyloidosis after chemotherapy. J Clin Oncol (2011) 1.21

Risk and protective factors for meningococcal disease in adolescents: matched cohort study. BMJ (2006) 1.21

AL amyloidosis associated with IgM paraproteinemia: clinical profile and treatment outcome. Blood (2008) 1.20

Senile systemic amyloidosis: clinical features at presentation and outcome. J Am Heart Assoc (2013) 1.20

Predicting patterns of long-term CD4 reconstitution in HIV-infected children starting antiretroviral therapy in sub-Saharan Africa: a cohort-based modelling study. PLoS Med (2013) 1.19

Perspectives in treatment of AL amyloidosis. Br J Haematol (2007) 1.17

Differential activation of human and mouse Toll-like receptor 4 by the adjuvant candidate LpxL1 of Neisseria meningitidis. Infect Immun (2008) 1.16

IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database. Hum Mutat (2013) 1.15

Emergence of oligoclonal bands in patients with multiple myeloma in complete remission after induction chemotherapy: association with the use of novel agents. Haematologica (2010) 1.14

Bayesian methods for the design and interpretation of clinical trials in very rare diseases. Stat Med (2014) 1.14

Outcome of autologous stem cell transplantation for AL amyloidosis in the UK. Br J Haematol (2006) 1.13

Human milk oligosaccharides reduce platelet-neutrophil complex formation leading to a decrease in neutrophil beta 2 integrin expression. J Leukoc Biol (2004) 1.13

Quantitative high-resolution microradiographic imaging of amyloid deposits in a novel murine model of AA amyloidosis. Amyloid (2005) 1.13

Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol (2006) 1.12

Biologic therapy in primary systemic vasculitis of the young. Rheumatology (Oxford) (2009) 1.12

Anti-neutrophil cytoplasmic antibodies stimulate release of neutrophil microparticles. J Am Soc Nephrol (2011) 1.11

Toll-like receptor 2 (TLR2) and TLR4 are present inside human dendritic cells, associated with microtubules and the Golgi apparatus but are not detectable on the cell surface: integrity of microtubules is required for interleukin-12 production in response to internalized bacteria. Immunology (2004) 1.11

Liver transplantation in transthyretin-related familial amyloid polyneuropathy. Curr Opin Neurol (2004) 1.11

Plasma stromal cell-derived factor (SDF)-1 levels, SDF1-3'A genotype, and expression of CXCR4 on T lymphocytes: their impact on resistance to human immunodeficiency virus type 1 infection and its progression. J Infect Dis (2002) 1.11

Expression of the inflammatory chemokines CCL5, CCL3 and CXCL10 in juvenile idiopathic arthritis, and demonstration of CCL5 production by an atypical subset of CD8+ T cells. Arthritis Res Ther (2006) 1.10

Increased thymic output after initiation of antiretroviral therapy in human immunodeficiency virus type 1-infected children in the Paediatric European Network for Treatment of AIDS (PENTA) 5 Trial. J Infect Dis (2002) 1.10

The emerging role of interleukin-1β in autoinflammatory diseases. Arthritis Rheum (2011) 1.09