R3B61B last accessed: 2022-11-04

Other names: INFEVERS, The registry of Auto-Inflammatory Disease mutations

A registry of Hereditary Auto-inflammatory Disorder Mutations.

Webpage:

https://infevers.umai-montpellier.fr/web/

Licence:

Name: Infevers Instructions for use
URL: https://infevers.umai-montpellier.fr/web/instructions_for_use.php

Publications:

Publications
More detailed information about this field from each metasource.

The infevers autoinflammatory mutation online registry: update with new genes and functions
PMID: 18409191
metasource: Fairsharing.org
version: FAIRsharing.org: Infevers; Infevers; DOI: https://doi.org/10.25504/FAIRsharing.g6kz6h; Last edited: April 26, 2021, 9:34 a.m.; Last accessed: Jan 03 2022 7:07 p.m.

INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations
PMID: 12520003
metasource: Fairsharing.org
version: FAIRsharing.org: Infevers; Infevers; DOI: https://doi.org/10.25504/FAIRsharing.g6kz6h; Last edited: April 26, 2021, 9:34 a.m.; Last accessed: Jan 03 2022 7:07 p.m.

The infevers autoinflammatory mutation online registry: update with new genes and functions PubMed citations: 91.

91 articles citing: The infevers autoinflammatory mutation online registry: update with new genes and functions

IL-1 and autoinflammatory disease: biology, pathogenesis and therapeutic targeting. PMID:35729334
Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center. PMID:35658515
PSTPIP1-LYP phosphatase interaction: structural basis and implications for autoinflammatory disorders. PMID:35152348
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes. PMID:34905135
An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7. PMID:34671876
Inflammasomes in Alveolar Bone Loss. PMID:34177950
Lipopolysaccharide stimulation test on cultured PBMCs assists the discrimination of cryopyrin-associated periodic syndrome from systemic juvenile idiopathic arthritis. PMID:34099791
Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets. PMID:34054914
NLRP7: From inflammasome regulation to human disease. PMID:34021586
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation. PMID:33917151
Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in Childhood. PMID:33868220
Elucidation of the Pathogenesis of Autoinflammatory Diseases Using iPS Cells. PMID:33535645
Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes. PMID:33329557
Gut Microbiota between Environment and Genetic Background in Familial Mediterranean Fever (FMF). PMID:32899315
Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling. PMID:32853466
NLRP7 plays a functional role in regulating BMP4 signaling during differentiation of patient-derived trophoblasts. PMID:32814763
Aseptic Μeningitis in Hereditary Autoinflammatory Diseases. PMID:32765981
Autoinflammatory Diseases in Childhood. PMID:32338845
Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever. PMID:32312770
Role of inflammasomes in the pathogenesis of periodontal disease and therapeutics. PMID:31850638
Current and future advances in genetic testing in systemic autoinflammatory diseases. PMID:31769854
Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases. PMID:31635385
Functional analysis of a novel G87V TNFRSF1A mutation in patients with TNF receptor-associated periodic syndrome. PMID:31429073
CINCA Syndrome With New NLRP3 Mutation and Unreported Complication of Thyroid Carcinoma. PMID:31217698
AICD: an integrated anti-inflammatory compounds database for drug discovery. PMID:31123286
CAPS and NLRP3. PMID:31077002
Mammalian lipin phosphatidic acid phosphatases in lipid synthesis and beyond: metabolic and inflammatory disorders. PMID:30804008
The classification, genetic diagnosis and modelling of monogenic autoinflammatory disorders. PMID:30185613
Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMF. PMID:29178647
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry. PMID:29047407
Inflammasome-Dependent Cytokines at the Crossroads of Health and Autoinflammatory Disease. PMID:29038114
Tumor necrosis factor-associated periodic syndrome in adults. PMID:28942479
A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever. PMID:28835462
Clinical Overlapping in Autoinflammatory Diseases: The Role of Gene Duplication. PMID:28424701
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations. PMID:28421071
Disease Phenotype and Outcome Depending on the Age at Disease Onset in Patients Carrying the R92Q Low-Penetrance Variant in TNFRSF1A Gene. PMID:28396659
[Genetics of cryopyrin-associated periodic syndrome]. PMID:28197772
The NLRP3 and Pyrin Inflammasomes: Implications in the Pathophysiology of Autoinflammatory Diseases. PMID:28191008
Evidence of digenic inheritance in autoinflammation-associated genes. PMID:27994174
Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation. PMID:27911804
Hyper-IgD and periodic fever syndrome (HIDS) due to compound heterozygosity for G336S and V377I in a 44-year-old patient with a 27-year history of fever. PMID:27899390
Assembly and regulation of ASC specks. PMID:27761594
[Autoinflammatory syndromes : Practical approach to diagnostics and therapy]. PMID:27412666
Autoinflammatory Skin Disorders: The Inflammasomme in Focus. PMID:27267764
Natural history of mevalonate kinase deficiency: a literature review. PMID:27142780
Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency. PMID:26986117
Relationship between periodontal destruction and gene mutations in patients with familial Mediterranean fever. PMID:26400644
Global epidemiology of Familial Mediterranean fever mutations using population exome sequences. PMID:26247045
The autoinflammatory diseases: a fashion with blurred boundaries! PMID:25998913
CAPS--pathogenesis, presentation and treatment of an autoinflammatory disease. PMID:25963520
The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway. PMID:25888769
The protean ocular involvement in monogenic autoinflammatory diseases: state of the art. PMID:25833143
Non-canonical manifestations of familial Mediterranean fever: a changing paradigm. PMID:25761640
The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy. PMID:24953660
A case of blau syndrome. PMID:24876985
MEFV mutations in Egyptian children with systemic-onset juvenile idiopathic arthritis. PMID:24862656
Genetics and Epigenetics of Recurrent Hydatidiform Moles: Basic Science and Genetic Counselling. PMID:24533231
The F-BAR protein PSTPIP1 controls extracellular matrix degradation and filopodia formation in macrophages. PMID:24421327
Weekly oral alendronate in mevalonate kinase deficiency. PMID:24360083
Canakinumab in patients with cryopyrin-associated periodic syndrome: an update for clinicians. PMID:24294305
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues. PMID:24282415
The expanding spectrum of rare monogenic autoinflammatory diseases. PMID:24131530
NLRP7 and the Genetics of Hydatidiform Moles: Recent Advances and New Challenges. PMID:23970884
The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry. PMID:23965844
Autoinflammatory bone disorders: update on immunologic abnormalities and clues about possible triggers. PMID:23917160
NLRP7 and related inflammasome activating pattern recognition receptors and their function in host defense and disease. PMID:23618810
[Genetic fever syndromes. Hereditary recurrent (periodic) fever syndromes]. PMID:23552978
In vitro analysis of the functional effects of an NLRP3 G809S variant with the co-existence of MEFV haplotype variants in atypical autoinflammatory syndrome. PMID:23015306
Familial Mediterranean fever in Germany: epidemiological, clinical, and genetic characteristics of a pediatric population. PMID:22903357
Guidelines for the genetic diagnosis of hereditary recurrent fevers. PMID:22661645
Lipin-2 reduces proinflammatory signaling induced by saturated fatty acids in macrophages. PMID:22334674
Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing. PMID:22279087
Characterization of NLRP3 variants in Japanese cryopyrin-associated periodic syndrome patients. PMID:22193915
NLRP7, a nucleotide oligomerization domain-like receptor protein, is required for normal cytokine secretion and co-localizes with Golgi and the microtubule-organizing center. PMID:22025618
Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever. PMID:21819621
Clinical immunology review series: An approach to the patient with a periodic fever syndrome. PMID:21736563
High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. PMID:21702021
Mammalian triacylglycerol metabolism: synthesis, lipolysis, and signaling. PMID:21627334
Inflammasomes and their activation. PMID:21083527
Arthritis patterns in familial Mediterranean fever patients and association with M694V mutation. PMID:20845072
Molecular evaluation of 458 patients referred with a clinical diagnosis of familial Mediterranean fever in Scandinavia. PMID:20721559
Lipins: multifunctional lipid metabolism proteins. PMID:20645851
MEFV E148Q polymorphism is associated with Henoch-Schönlein purpura in Chinese children. PMID:20602240
1Novel MEFV transcripts in Familial Mediterranean fever patients and controls. PMID:20534143
Inflammasome-associated nucleotide-binding domain, leucine-rich repeat proteins and inflammatory diseases. PMID:20007570
[Molecular diagnostics of hereditary fever syndromes. Familial Mediterranean fever (FMF), hyperimmunoglobulin D syndrome (HIDS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS: FCAS, MWS, NOMID/CINCA)]. PMID:19830438
Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis. PMID:19784369
Improved mutation tagging with gene identifiers applied to membrane protein stability prediction. PMID:19758467
The lipin family: mutations and metabolism. PMID:19369868
Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). PMID:19302049
B cell cytopenia in two brothers with hyper-IgD and periodic fever syndrome. PMID:18839211
INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations PubMed citations: 54.

54 articles citing: INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations

Inflammasome activation: from molecular mechanisms to autoinflammation. PMID:35832835
Posttranslational Regulation of Inflammasomes, Its Potential as Biomarkers and in the Identification of Novel Drugs Targets. PMID:35800898
IL-1 and autoinflammatory disease: biology, pathogenesis and therapeutic targeting. PMID:35729334
Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center. PMID:35658515
Bioinformatic Challenges Detecting Genetic Variation in Precision Medicine Programs. PMID:35463004
An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7. PMID:34671876
Molecular biology of autoinflammatory diseases. PMID:34635190
NLRP7: From inflammasome regulation to human disease. PMID:34021586
Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach. PMID:34004258
Detecting Causal Variants in Mendelian Disorders Using Whole-Genome Sequencing. PMID:33606250
Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today? PMID:33401496
Gut Microbiota between Environment and Genetic Background in Familial Mediterranean Fever (FMF). PMID:32899315
Inflammasome inhibition under physiological and pharmacological conditions. PMID:32681062
Detecting pathogenic variants in autoimmune diseases using high-throughput sequencing. PMID:32623783
Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives. PMID:32380704
Moving towards a systems-based classification of innate immune-mediated diseases. PMID:32107482
Inflammasomes in the pathophysiology of autoinflammatory syndromes. PMID:31608507
Targeted Therapy with Biologicals and Small Molecules in Primary Immunodeficiencies. PMID:31597133
Pyrin dephosphorylation is sufficient to trigger inflammasome activation in familial Mediterranean fever patients. PMID:31589380
Inborn Errors of Immunity With Immune Dysregulation: From Bench to Bedside. PMID:31508401
CINCA Syndrome With New NLRP3 Mutation and Unreported Complication of Thyroid Carcinoma. PMID:31217698
CAPS and NLRP3. PMID:31077002
Targeting the NLRP3 inflammasome in inflammatory diseases. PMID:30026524
One novel and two uncommon MEFV mutations in Japanese patients with familial Mediterranean fever: a clinicogenetic study. PMID:29151129
Tumor necrosis factor-associated periodic syndrome in adults. PMID:28942479
A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever. PMID:28835462
Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach. PMID:28814775
Familial Mediterranean fever, review of the literature. PMID:28624931
The NLRP3 and Pyrin Inflammasomes: Implications in the Pathophysiology of Autoinflammatory Diseases. PMID:28191008
Evidence of digenic inheritance in autoinflammation-associated genes. PMID:27994174
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1. PMID:27994071
Hyper-IgD and periodic fever syndrome (HIDS) due to compound heterozygosity for G336S and V377I in a 44-year-old patient with a 27-year history of fever. PMID:27899390
The autoinflammatory diseases: a fashion with blurred boundaries! PMID:25998913
Key facts and hot spots on tumor necrosis factor receptor-associated periodic syndrome. PMID:24935411
A pro-inflammatory signalome is constitutively activated by C33Y mutant TNF receptor 1 in TNF receptor-associated periodic syndrome (TRAPS). PMID:24668260
The F-BAR protein PSTPIP1 controls extracellular matrix degradation and filopodia formation in macrophages. PMID:24421327
Cytokine profile in a cohort of healthy blood donors carrying polymorphisms in genes encoding the NLRP3 inflammasome. PMID:24098386
Gene hunting in autoinflammation. PMID:24070009
First report of circulating microRNAs in tumour necrosis factor receptor-associated periodic syndrome (TRAPS). PMID:24066048
The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry. PMID:23965844
Guidelines for the genetic diagnosis of hereditary recurrent fevers. PMID:22661645
NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment. PMID:22146561
Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever. PMID:21819621
Clinical immunology review series: An approach to the patient with a periodic fever syndrome. PMID:21736563
Inflammasomes and their activation. PMID:21083527
[Autoinflammatory diseases in childhood]. PMID:19841924
Online genetic databases informing human genome epidemiology. PMID:17610726
Hereditary auto-inflammatory disorders and biologics. PMID:16738958
Increased frequency of mutations in the gene responsible for familial Mediterranean fever (MEFV) in a cohort of patients with ulcerative colitis: evidence for a potential disease-modifying effect? PMID:16614989
Reduced tumor necrosis factor signaling in primary human fibroblasts containing a tumor necrosis factor receptor superfamily 1A mutant. PMID:15818692
Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response. PMID:15549379
Tumor necrosis factor (TNF) receptor shedding controls thresholds of innate immune activation that balance opposing TNF functions in infectious and inflammatory diseases. PMID:15289505
Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients. PMID:15020340
Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. PMID:14610673

Tags:

Tags
More detailed information about this field from each metasource.

genetic disorder
metasource: Fairsharing.org
version: FAIRsharing.org: Infevers; Infevers; DOI: https://doi.org/10.25504/FAIRsharing.g6kz6h; Last edited: April 26, 2021, 9:34 a.m.; Last accessed: Jan 03 2022 7:07 p.m.

genetic polymorphism
metasource: Fairsharing.org
version: FAIRsharing.org: Infevers; Infevers; DOI: https://doi.org/10.25504/FAIRsharing.g6kz6h; Last edited: April 26, 2021, 9:34 a.m.; Last accessed: Jan 03 2022 7:07 p.m.

genotype
metasource: Fairsharing.org
version: FAIRsharing.org: Infevers; Infevers; DOI: https://doi.org/10.25504/FAIRsharing.g6kz6h; Last edited: April 26, 2021, 9:34 a.m.; Last accessed: Jan 03 2022 7:07 p.m.

inflammatory response
metasource: Fairsharing.org
version: FAIRsharing.org: Infevers; Infevers; DOI: https://doi.org/10.25504/FAIRsharing.g6kz6h; Last edited: April 26, 2021, 9:34 a.m.; Last accessed: Jan 03 2022 7:07 p.m.

mutation
metasource: Fairsharing.org
version: FAIRsharing.org: Infevers; Infevers; DOI: https://doi.org/10.25504/FAIRsharing.g6kz6h; Last edited: April 26, 2021, 9:34 a.m.; Last accessed: Jan 03 2022 7:07 p.m.

mutation analysis
metasource: Fairsharing.org
version: FAIRsharing.org: Infevers; Infevers; DOI: https://doi.org/10.25504/FAIRsharing.g6kz6h; Last edited: April 26, 2021, 9:34 a.m.; Last accessed: Jan 03 2022 7:07 p.m.

human genes and diseases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

gene-, system- or disease-specific databases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

dna
metasource: re3data.org
version: re3data.org: Infevers; editing status 2021-12-15; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3B61B last accessed: 2022-11-04

familial mediterranean fever (fmf)
metasource: re3data.org
version: re3data.org: Infevers; editing status 2021-12-15; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3B61B last accessed: 2022-11-04

gene mutations
metasource: re3data.org
version: re3data.org: Infevers; editing status 2021-12-15; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3B61B last accessed: 2022-11-04

genomic sequence
metasource: re3data.org
version: re3data.org: Infevers; editing status 2021-12-15; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3B61B last accessed: 2022-11-04

genomics
metasource: re3data.org
version: re3data.org: Infevers; editing status 2021-12-15; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3B61B last accessed: 2022-11-04

hereditary autoinflammatory diseases
metasource: re3data.org
version: re3data.org: Infevers; editing status 2021-12-15; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3B61B last accessed: 2022-11-04

genetic disorder polymorphism genotype inflammatory response mutation mutation analysis human genes and diseases gene-, system- or disease-specific dna familial mediterranean fever (fmf) gene mutations genomic sequence genomics hereditary autoinflammatory diseases

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