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

被引:158
作者
de Menthière, CS
Terrière, S
Pugnère, D
Ruiz, M
Demaille, J
Touitou, I
机构
[1] CNRS, UPR 1142, Inst Human Genet, F-34396 Montpellier 5, France
[2] CIRAD AMIS, Biotrop, UMR 1096, F-34398 Montpellier 5, France
[3] A de Villeneuve Hosp, Genet Lab, F-34295 Montpellier 5, France
关键词
D O I
10.1093/nar/gkg031
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
引用
收藏
页码:282 / 285
页数:4
相关论文
共 10 条
[1]  
Aksentijevich I, 1997, CELL, V90, P797
[2]  
Bernot A, 1997, NAT GENET, V17, P25
[3]   Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome [J].
Drenth, JPH ;
Cuisset, L ;
Grateau, G ;
Vasseur, C ;
van de Velde-Visser, SD ;
de Jong, JGN ;
Beckmann, JS ;
van der Meer, JWM ;
Delpech, M .
NATURE GENETICS, 1999, 22 (02) :178-181
[4]   Medical progress: Hereditary periodic fever. [J].
Drenth, JPH ;
van der Meer, JWM .
NEW ENGLAND JOURNAL OF MEDICINE, 2001, 345 (24) :1748-1757
[5]   Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes [J].
Feldmann, J ;
Prieur, AM ;
Quartier, P ;
Berquin, P ;
Certain, S ;
Cortis, E ;
Teillac-Hamel, D ;
Fischer, A ;
de Saint Basile, G .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (01) :198-203
[6]   Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome [J].
Hoffman, HM ;
Mueller, JL ;
Broide, DH ;
Wanderer, AA ;
Kolodner, RD .
NATURE GENETICS, 2001, 29 (03) :301-305
[7]   Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome [J].
Houten, SM ;
Kuis, W ;
Duran, M ;
de Koning, TJ ;
van Royen-Kerkhof, A ;
Romeijn, GJ ;
Frenkel, J ;
Dorland, L ;
de Barse, MMJ ;
Huijbers, WAR ;
Rijkers, GT ;
Waterham, HR ;
Wanders, RJA ;
Poll-The, BT .
NATURE GENETICS, 1999, 22 (02) :175-177
[8]   Hereditary periodic fever syndromes [J].
McDermott, MF ;
Frenkel, J .
NETHERLANDS JOURNAL OF MEDICINE, 2001, 59 (03) :118-125
[9]   Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes [J].
McDermott, MF ;
Aksentijevich, I ;
Galon, J ;
McDermott, EM ;
Ogunkolade, BW ;
Centola, M ;
Mansfield, E ;
Gadina, M ;
Karenko, L ;
Pettersson, T ;
McCarthy, J ;
Frucht, DM ;
Aringer, M ;
Torosyan, Y ;
Teppo, AM ;
Wilson, M ;
Karaarslan, HM ;
Wan, Y ;
Todd, I ;
Wood, G ;
Schlimgen, R ;
Kumarajeewa, TR ;
Cooper, SM ;
Vella, JP ;
Amos, CI ;
Mulley, J ;
Quane, KA ;
Molloy, MG ;
Ranki, A ;
Powell, RJ ;
Hitman, GA ;
O'Shea, JJ ;
Kastner, DL .
CELL, 1999, 97 (01) :133-144
[10]  
PUGUERE D, 2003, NUCLEIC ACIDS RES, V31, P286