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
Age estimation of single nucleotide polymorphisms associated with autoinflammatory diseases in anatolia: insights from ancient and modern DNA.
Karadavut D et al.
Human Genetics, 2025
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish.
Mitchell BD et al.
American Journal of Medical Genetics. Part A, 2025
Endogenous Lipoid Pneumonia in Adult Autoinflammatory Disease.
Slabbynck K et al.
Arthritis Care & Research, 2025
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
TNF Receptor-Associated Periodic Syndrome: An Analysis of a Slovakian Cohort of TRAPS Patients.
Slenker B et al.
Archives of Rheumatology, 2025
Systemic autoinflammatory disease diagnoses in a single year from a UK national referral centre.
Caterson HC et al.
Rheumatology (oxford, England), 2025
Genetic testing of Behçet's disease using next-generation sequencing to identify monogenic mimics and HLA-B*51.
Burleigh A et al.
Rheumatology (oxford, England), 2024
Genetic variants in patients with recurrent pericarditis.
Imazio M et al.
Journal of Cardiovascular Medicine (hagerstown, Md.), 2024
Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.
Kovanda A et al.
International Journal of Molecular Sciences, 2024
Comparison of the ABC and ACMG systems for variant classification.
Houge G et al.
European Journal of Human Genetics : Ejhg, 2024
Genetically transitional disease: conceptual understanding and applicability to rheumatic disease.
Niewold TB et al.
Nature Reviews. Rheumatology, 2024
Case report: Other autoinflammatory mutations in a patient with atypical familial Mediterranean fever symptoms.
Hacıoglu E et al.
International Journal of Rheumatic Diseases, 2024
Tumor characteristics of dissociated response to immune checkpoint inhibition in advanced melanoma.
Versluis JM et al.
Cancer Immunology, Immunotherapy : Cii, 2024
Cardiovascular manifestations of monogenic periodic fever syndromes.
Sönmez HE et al.
Clinical Rheumatology, 2023
Genetic screening in a Brazilian cohort with inborn errors of immunity.
Ferreira CS et al.
Bmc Genomic Data, 2023
Renal involvement in monogenic autoinflammatory diseases: A narrative review.
La Bella S et al.
Nephrology (carlton, Vic.), 2023
Systematic genetic analysis of pediatric patients with autoinflammatory diseases.
Poker Y et al.
Frontiers in Genetics, 2023
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
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
Neřoldová M et al.
Plos One, 2023
Implications of combined NOD2 and other gene mutations in autoinflammatory diseases.
Nomani H et al.
Frontiers in Immunology, 2023
IL-1 and autoinflammatory disease: biology, pathogenesis and therapeutic targeting.
Broderick L et al.
Nature Reviews. Rheumatology, 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.
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
Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center.
Peet CJ et al.
Journal of the American Heart Association, 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
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
Jain A et al.
Journal, Genetic Engineering & Biotechnology, 2021
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
Macroglobulinemia and Autoinflammatory Disease.
Navetta-Modrov B et al.
Rheumatology and Immunology Research, 2021
Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.
Di Donato G et al.
International Journal of Molecular Sciences, 2021
Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases.
Sözeri B et al.
Clinical Rheumatology, 2021
Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.
Liu S et al.
Communications Biology, 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
Functional analysis of novel A20 variants in patients with atypical inflammatory diseases.
Kadowaki S et al.
Arthritis Research & Therapy, 2021
Is gene panel sequencing more efficient than clinical-based gene sequencing to diagnose autoinflammatory diseases? A randomized study.
Rama M et al.
Clinical and Experimental Immunology, 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
High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.
Toulmonde M et al.
Ebiomedicine, 2020
Molecular and clinical spectrum of four pedigrees of TRAPS in Greece: results from a national referral center.
Nezos A et al.
Rheumatology (oxford, England), 2020
Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives.
Cudrici C et al.
International Journal of Molecular Sciences, 2020
Phenotypic variability in two patients with tumor necrosis factor receptor associated periodic fever syndrome emphasizes a rare manifestation: Immunoglobulin A nephropathy.
Balci S et al.
European Journal of Medical Genetics, 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
Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases.
Boursier G et al.
Journal of Clinical Medicine, 2019
Molecular genetic evaluation of NLRP3, MVK and TNFRSF1A associated periodic fever syndromes.
Ozyilmaz B et al.
International Journal of Immunogenetics, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
Behçet's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes.
Burillo-Sanz S et al.
Scientific Reports, 2019