Associated Papers
Prevalence estimation of a rare disease with the French National Rare Disease Registry: example of TNF receptor associated periodic syndrome (TRAPS).
Subervie A et al.
Orphanet Journal of Rare Diseases, 2025
Molecular genetics in adult-onset Still's disease: next-generation sequencing in 24 patients and literature review.
Prieto-Peña D et al.
Frontiers in Immunology, 2024
Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.
Bar O et al.
Frontiers in Neurology, 2023
The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist.
Romano M et al.
Arthritis & Rheumatology (hoboken, N.j.), 2022
The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist.
Romano M et al.
Annals of the Rheumatic Diseases, 2022
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.
Kernan KF et al.
Journal of Clinical Immunology, 2022
Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review.
Delaleu J et al.
Rheumatology (oxford, England), 2021
Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.
Di Donato G et al.
International Journal of Molecular Sciences, 2021
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G et al.
Journal of Clinical Medicine, 2021
TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS.
Rittore C et al.
Scientific Reports, 2021
Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.
Sharma P et al.
Frontiers in Genetics, 2021
Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives.
Cudrici C et al.
International Journal of Molecular Sciences, 2020
The French paediatric cohort of Castleman disease: a retrospective report of 23 patients.
Borocco C et al.
Orphanet Journal of Rare Diseases, 2020
Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor-Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network.
Gaggiano C et al.
Mediators of Inflammation, 2020
Current and future advances in genetic testing in systemic autoinflammatory diseases.
Schnappauf O et al.
Rheumatology (oxford, England), 2019
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach.
Burillo-Sanz S et al.
Scientific Reports, 2017
Disease Phenotype and Outcome Depending on the Age at Disease Onset in Patients Carrying the R92Q Low-Penetrance Variant in TNFRSF1A Gene.
Ruiz-Ortiz E et al.
Frontiers in Immunology, 2017
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
Martorana D et al.
Frontiers in Immunology, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Overlap of familial Mediterranean fever and hyper-IgD syndrome in an Arabic kindred.
Moussa T et al.
Journal of Clinical Immunology, 2015
The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry.
Lachmann HJ et al.
Annals of the Rheumatic Diseases, 2014
Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature.
Touitou I
Journal of Medical Genetics, 2013
Hereditary autoinflammatory syndromes: a Brazilian multicenter study.
Jesus AA et al.
Journal of Clinical Immunology, 2012
Guidelines for the genetic diagnosis of hereditary recurrent fevers.
Shinar Y et al.
Annals of the Rheumatic Diseases, 2012
An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement.
Touitou I et al.
European Journal of Human Genetics : Ejhg, 2009
A novel TNFRSF1A splice mutation associated with increased nuclear factor kappaB (NF-kappaB) transcription factor activation in patients with tumour necrosis factor receptor associated periodic syndrome (TRAPS).
Churchman SM et al.
Annals of the Rheumatic Diseases, 2008
Autoinflammatory diseases.
Touitou I et al.
Best Practice & Research. Clinical Rheumatology, 2008
African Americans with asthma: genetic insights.
Barnes KC et al.
Proceedings of the American Thoracic Society, 2007
Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes.
Simon A et al.
Rheumatology (oxford, England), 2006
Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations.
Tchernitchko D et al.
European Journal of Human Genetics : Ejhg, 2005
Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept.
Arkwright PD et al.
Clinical and Experimental Immunology, 2002
Autosomal dominant periodic fever with AA amyloidosis: tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family.
Dinc A et al.
Journal of Nephrology, 0