Nucleic Acids Research, 2003, Vol. 31, No. 1 282-285
© 2003 Oxford University Press
INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations
Institute of Human Genetics — CNRS UPR 1142, 141, rue de la Cardonille, 34396 Montpellier Cedex 5, France 1 CIRAD AMIS, Biotrop, UMR 1096 — TA40/03, Avenue Agropolis, 34398 Montpellier Cedex 5, France 2 Laboratory of Genetics, A de Villeneuve Hospital, 34295 Montpellier Cedex 5, France
*To whom correspondence should be addressed. Tel: +33 499619981; Fax: +33 499619901; Email: cyril.sarrauste{at}igh.cnrs.fr
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.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  S. Stjernberg-Salmela, A. Ranki, L. Karenko, S. Siitonen, H. Mustonen, P. Puolakkainen, S. Sarna, T. Pettersson, and H. Repo Low TNF-induced NF-{kappa}B and p38 phosphorylation levels in leucocytes in tumour necrosis factor receptor-associated periodic syndrome Rheumatology, February 1, 2010; 49(2): 382 - 390. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Lainka, U. Neudorf, P. Lohse, C. Timmann, S. Stojanov, K. Huss, R. von Kries, and T. Niehues Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics Rheumatology, August 1, 2009; 48(8): 987 - 991. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S M Churchman, L D Church, S Savic, L R Coulthard, B Hayward, B Nedjai, M D Turner, R J Mathews, E Baguley, G A Hitman, et al. A novel TNFRSF1A splice mutation associated with increased nuclear factor {kappa}appaB (NF-{kappa}B) transcription factor activation in patients with tumour necrosis factor receptor associated periodic syndrome (TRAPS) Ann Rheum Dis, November 1, 2008; 67(11): 1589 - 1595. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Q. Yao and D. E. Furst Autoinflammatory diseases: an update of clinical and genetic aspects Rheumatology, July 1, 2008; 47(7): 946 - 951. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. H. Straub, P. Harle, M. Kriegel, J. Scholmerich, and H.-M. Lorenz Adrenal and Gonadal Hormone Variations during a Febrile Attack in a Woman with Tumor Necrosis Factor Receptor-Associated Periodic Syndrome J. Clin. Endocrinol. Metab., October 1, 2005; 90(10): 5884 - 5887. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. Tchernitchko, M. Goossens, and H. Wajcman In Silico Prediction of the Deleterious Effect of a Mutation: Proceed with Caution in Clinical Genetics Clin. Chem., November 1, 2004; 50(11): 1974 - 1978. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Xanthoulea, M. Pasparakis, S. Kousteni, C. Brakebusch, D. Wallach, J. Bauer, H. Lassmann, and G. Kollias Tumor Necrosis Factor (TNF) Receptor Shedding Controls Thresholds of Innate Immune Activation That Balance Opposing TNF Functions in Infectious and Inflammatory Diseases J. Exp. Med., August 2, 2004; 200(3): 367 - 376. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K Ritis, S Giaglis, N Spathari, A Micheli, D Zonios, D Tzoanopoulos, C C Deltas, S Rafail, R Mean, V Papadopoulos, et al. Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients Ann Rheum Dis, April 1, 2004; 63(4): 438 - 443. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C Cazeneuve, S Papin, I Jeru, P Duquesnoy, and S Amselem Subcellular localisation of marenostrin/pyrin isoforms carrying the most common mutations involved in familial Mediterranean fever in the presence or absence of its binding partner ASC J. Med. Genet., March 1, 2004; 41(3): e24 - 24. [Full Text] [PDF]
|
|
|
|
 |
|
 S. Papin, C. Cazeneuve, P. Duquesnoy, I. Jeru, D. Sahali, and S. Amselem The Tumor Necrosis Factor {alpha}-dependent Activation of the Human Mediterranean Fever (MEFV) Promoter Is Mediated by a Synergistic Interaction between C/EBP{beta} and NF{kappa}B p65 J. Biol. Chem., December 5, 2003; 278(49): 48839 - 48847. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. Touitou Standardized Testing for Mutations in Familial Mediterranean Fever Clin. Chem., November 1, 2003; 49(11): 1781 - 1782. [Full Text] [PDF]
|
|
|
|
|
|
D. Tchernitchko, M. Legendre, A. Delahaye, C. Cazeneuve, F. Niel, M. Goossens, S. Amselem, and E. Girodon Clinical Evaluation of a Reverse Hybridization Assay for the Molecular Detection of Twelve MEFV Gene Mutations Clin. Chem., November 1, 2003; 49(11): 1942 - 1945. [Full Text] [PDF]
|
|
|
|
|
|
C. Oberkanins, A. Weinhausel, G. Kriegshauser, A. Moritz, F. Kury, and O. A. Haas Genetic Testing for Familial Mediterranean Fever in Austria by Means of Reverse-Hybridization Teststrips Clin. Chem., November 1, 2003; 49(11): 1948 - 1950. [Full Text] [PDF]
|
|