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S. Bens et al.
GENES AND IMMUNITY (2014)
A case of adult periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome associated with endocapillary proliferative glomerulonephritis
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JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2013)
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IMMUNOLOGIC RESEARCH (2012)
The Q705K Polymorphism in NLRP3 Is a Gain-of-Function Alteration Leading to Excessive Interleukin-1β and IL-18 Production
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PLOS ONE (2012)
Long-Term Clinical Profile of Children With the Low-Penetrance R92Q Mutation of the TNFRSF1A Gene
M. A. Pelagatti et al.
ARTHRITIS AND RHEUMATISM (2011)
Identification and Functional Consequences of a Recurrent NLRP12 Missense Mutation in Periodic Fever Syndromes
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ARTHRITIS AND RHEUMATISM (2011)
PFAPA Syndrome in a Young Adult with a History of Tonsillectomy
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A framework for variation discovery and genotyping using next-generation DNA sequencing data
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NATURE GENETICS (2011)
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade
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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Single Nucleotide Differences (SNDs) in the dbSNP Database May Lead to Errors in Genotyping and Haplotyping Studies
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Genetic predisposition (NLRP3 V198M mutation) for IL-1-mediated inflammation in a patient with Schnitzler syndrome
Jan Loock et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
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NUCLEIC ACIDS RESEARCH (2010)
PFAPA syndrome is not a sporadic disease
Marie Cochard et al.
RHEUMATOLOGY (2010)
MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA
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RHEUMATOLOGY INTERNATIONAL (2010)
Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease
Seth L. Masters et al.
ANNUAL REVIEW OF IMMUNOLOGY (2009)
Syndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) in siblings
Patricia M. Valenzuela et al.
CLINICAL RHEUMATOLOGY (2009)
TWO SIBLINGS WITH PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS, ADENITIS (PFAPA) SYNDROME
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PEDIATRIC INFECTIOUS DISEASE JOURNAL (2009)
Differentiating PFAPA Syndrome From Monogenic Periodic Fevers
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PEDIATRICS (2009)
Autoinflammatory diseases
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BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY (2008)
The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome
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BMC CARDIOVASCULAR DISORDERS (2008)
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PLOS ONE (2008)
The clinical continuum of cryopyrinopathies -: Novel CIAS1 mutations in north American patients and a new cryopyrin model
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ARTHRITIS AND RHEUMATISM (2007)
A child with a systemic febrile illness - differential diagnosis and management
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BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY (2006)
Gout-associated uric acid crystals activate the NALP3 inflammasome
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GENE (2004)
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EUROPEAN JOURNAL OF HAEMATOLOGY (2004)
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ANNALS OF MEDICINE (2004)
Infevers: An evolving mutation database for auto-inflammatory syndromes
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HUMAN MUTATION (2004)
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FEBS LETTERS (2003)
Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis
E Aganna et al.
ARTHRITIS AND RHEUMATISM (2002)
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome
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NATURE GENETICS (2001)
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
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SCIENCE (2001)
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