Literature DB >> 12520003

INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations.

Cyril Sarrauste de Menthière1, Stéphane Terrière, Denis Pugnère, Manuel Ruiz, Jacques Demaille, Isabelle Touitou.   

Abstract

We have established the INFEVERS--INternet periodic FEVERS--website (which is freely accessible at http://fmf.igh.cnrs.fr/infevers/). Our objectives were to develop a specialist site to gather updated information on mutations responsible for hereditary inflammatory disorders: i.e. Familial Mediterranean Fever (FMF), TRAPS (TNF Receptor 1A Associated Syndrome), HIDS (HyperIgD Syndrome), MWS (Muckle-Wells Syndrome)/FCU (Familial Cold Urticaria)/CINCA (Chronic Infantile Neurological Cutaneous and Articular Syndrome). Contributors submit their novel mutations through a 3 step form. Depending on the disease concerned, a member of the editorial board is automatically solicited to overview and validate new submissions, via a special secured web interface. If accepted, the new mutation is available on the INFEVERS web site and the discoverer, who is informed by email, is credited by having his/her name and date of the discovery on the site. The INFEVERS gateway provides researchers and clinicians with a common access location for information on similar diseases, allowing a rapid overview of the corresponding genetic defects at a glance. Furthermore, it is interactive and extendable according to the latest genes discovered.

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Year:  2003        PMID: 12520003      PMCID: PMC165478          DOI: 10.1093/nar/gkg031

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN: 0305-1048            Impact factor:   16.971


  10 in total

1.  Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.

Authors:  M F McDermott; I Aksentijevich; J Galon; E M McDermott; B W Ogunkolade; M Centola; E Mansfield; M Gadina; L Karenko; T Pettersson; J McCarthy; D M Frucht; M Aringer; Y Torosyan; A M Teppo; M Wilson; H M Karaarslan; Y Wan; I Todd; G Wood; R Schlimgen; T R Kumarajeewa; S M Cooper; J P Vella; C I Amos; J Mulley; K A Quane; M G Molloy; A Ranki; R J Powell; G A Hitman; J J O'Shea; D L Kastner
Journal:  Cell       Date:  1999-04-02       Impact factor: 41.582

Review 2.  Hereditary periodic fever.

Authors:  J P Drenth; J W van der Meer
Journal:  N Engl J Med       Date:  2001-12-13       Impact factor: 91.245

3.  Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.

Authors:  H M Hoffman; J L Mueller; D H Broide; A A Wanderer; R D Kolodner
Journal:  Nat Genet       Date:  2001-11       Impact factor: 38.330

4.  Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.

Authors:  S M Houten; W Kuis; M Duran; T J de Koning; A van Royen-Kerkhof; G J Romeijn; J Frenkel; L Dorland; M M de Barse; W A Huijbers; G T Rijkers; H R Waterham; R J Wanders; B T Poll-The
Journal:  Nat Genet       Date:  1999-06       Impact factor: 38.330

5.  Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

Authors:  J P Drenth; L Cuisset; G Grateau; C Vasseur; S D van de Velde-Visser; J G de Jong; J S Beckmann; J W van der Meer; M Delpech
Journal:  Nat Genet       Date:  1999-06       Impact factor: 38.330

6.  Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.

Authors:  Jérôme Feldmann; Anne-Marie Prieur; Pierre Quartier; Patrick Berquin; Stephanie Certain; Elisabetta Cortis; Dominique Teillac-Hamel; Alain Fischer; Genevieve de Saint Basile
Journal:  Am J Hum Genet       Date:  2002-05-24       Impact factor: 11.025

7.  A candidate gene for familial Mediterranean fever.

Authors: 
Journal:  Nat Genet       Date:  1997-09       Impact factor: 38.330

8.  Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.

Authors: 
Journal:  Cell       Date:  1997-08-22       Impact factor: 41.582

Review 9.  Hereditary periodic fever syndromes.

Authors:  M F McDermott; J Frenkel
Journal:  Neth J Med       Date:  2001-09       Impact factor: 1.422

10.  The MetaFMF website: a high quality tool for meta-analysis of FMF.

Authors:  Denis Pugnère; Manuel Ruiz; Cyril Sarrauste de Menthière; Benjamin Masdoua; Jacques Demaille; Isabelle Touitou
Journal:  Nucleic Acids Res       Date:  2003-01-01       Impact factor: 16.971

  10 in total
  55 in total

Review 1.  The autoinflammatory diseases: a fashion with blurred boundaries!

Authors:  G Sarrabay; M Barat-Houari; S Annakib; I Touitou
Journal:  Semin Immunopathol       Date:  2015-05-22       Impact factor: 9.623

Review 2.  Detecting Causal Variants in Mendelian Disorders Using Whole-Genome Sequencing.

Authors:  Abdul Rezzak Hamzeh; T Daniel Andrews; Matt A Field
Journal:  Methods Mol Biol       Date:  2021

Review 3.  Clinical immunology review series: An approach to the patient with a periodic fever syndrome.

Authors:  H J Lachmann
Journal:  Clin Exp Immunol       Date:  2011-07-07       Impact factor: 4.330

Review 4.  Familial Mediterranean fever, review of the literature.

Authors:  Mansour Alghamdi
Journal:  Clin Rheumatol       Date:  2017-06-18       Impact factor: 2.980

5.  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.

Authors:  Stefan Schlabe; Carolynne Schwarze-Zander; Peter Lohse; Jürgen Kurt Rockstroh
Journal:  BMJ Case Rep       Date:  2016-11-29

Review 6.  Inflammasome inhibition under physiological and pharmacological conditions.

Authors:  Emily A Caseley; James A Poulter; François Rodrigues; Michael F McDermott
Journal:  Genes Immun       Date:  2020-07-17       Impact factor: 2.676

Review 7.  Tumor necrosis factor-associated periodic syndrome in adults.

Authors:  Sharika Gopakumar Menon; Petros Efthimiou
Journal:  Rheumatol Int       Date:  2017-09-23       Impact factor: 2.631

Review 8.  Moving towards a systems-based classification of innate immune-mediated diseases.

Authors:  Sinisa Savic; Emily A Caseley; Michael F McDermott
Journal:  Nat Rev Rheumatol       Date:  2020-02-27       Impact factor: 20.543

Review 9.  Key facts and hot spots on tumor necrosis factor receptor-associated periodic syndrome.

Authors:  Donato Rigante; Giuseppe Lopalco; Antonio Vitale; Orso Maria Lucherini; Caterina De Clemente; Francesco Caso; Giacomo Emmi; Luisa Costa; Elena Silvestri; Laura Andreozzi; Florenzo Iannone; Mauro Galeazzi; Luca Cantarini
Journal:  Clin Rheumatol       Date:  2014-06-17       Impact factor: 2.980

10.  The F-BAR protein PSTPIP1 controls extracellular matrix degradation and filopodia formation in macrophages.

Authors:  Taylor W Starnes; David A Bennin; Xinyu Bing; Jens C Eickhoff; Daniel C Grahf; Jason M Bellak; Christine M Seroogy; Polly J Ferguson; Anna Huttenlocher
Journal:  Blood       Date:  2014-01-13       Impact factor: 22.113

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