INFEVERS: The registry for FMF and hereditary inflammatory disorders mutations

Nucleic Acids Research

Volumn 31, Issue 1, 2003, Pages 282-285

  de Menthière, Cyril Sarrauste ^c   Terrière, Stéphane ^c   Pugnère, Denis ^c   Ruiz, Manuel ^a   Demaille, Jacques ^c   Touitou, Isabelle ^b  

^a CIRAD   (France)

^b HÔPITAL ARNAUD DE VILLENEUVE   (France)

^c INSTITUTE OF HUMAN GENETICS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN D; TUMOR NECROSIS FACTOR RECEPTOR 1;

ACCESS TO INFORMATION; COMPUTER INTERFACE; E-MAIL; EDITORIAL; FACTUAL DATABASE; FAMILIAL MEDITERRANEAN FEVER; GENE MUTATION; GENETIC DISORDER; HYPERIMMUNOGLOBULINEMIA; INFEVERS DATABASE; INFLAMMATORY DISEASE; INTERNET; MEDICAL INFORMATION; PRIORITY JOURNAL; REGISTER; REVIEW; URTICARIA; VALIDATION PROCESS;

DATA COLLECTION; DATABASES, GENETIC; FAMILIAL MEDITERRANEAN FEVER; GENETIC DISEASES, INBORN; HUMANS; INFLAMMATION; INFORMATION STORAGE AND RETRIEVAL; INTERNET; MUTATION; QUALITY CONTROL; REGISTRIES; SOFTWARE;

EID: 0037249569     PISSN: 03051048     EISSN: None     Source Type: Journal    
DOI: 10.1093/nar/gkg031     Document Type: Review

References (10)

1. McDermott,M.F. and Frenkel,J. (2001) Hereditary periodic fever syndromes. Neth. J. Med., 59, 118-125.
2. Drenth,J.P. and van der Meer,J.W. (2001) Hereditary periodic fever. N. Engl. J. Med., 345, 1748-1757.
3. Puguère,D., Ruiz,M., Sarrauste de Menthière,C., Masdona,B., Demaille,J. and Touitu,I. (2003) The MetaFMF website: a high quality tool for meta-analysis of FMF. Nucleic Acids Res., 31, 286-290.
4. The French FMF Consortium (1997) A candidate gene for familial Mediterranean fever. Nature Genet., 17, 25-31.
5. The International FMF Consortium (1997) Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell, 90, 797-807.
6. McDermott,M.F., Aksentijevich,I., Galon,J., McDermott,E.M., Ogunkolade,B.W., Centola,M., Mansfield,E., Gadina,M., Karenko,L., Pettersson,T. et al. (1999) Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell, 97, 133-144.
7. Drenth,J.P., Cuisset,L., Grateau,G., Vasseur,C., van de Velde-Visser,S.D., de Jong,J.G., Beckmann,J.S., van der Meer,J.W. and Delpech,M. (1999) Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nature Genet., 22, 178-181.
8. Houten,S.M., Kuis,W., Duran,M., de Koning,T.J., van Royen-Kerkhof,A., Romeijn,G.J., Frenkel,J., Dorland,L., de Barse,M.M., Huijbers,W.A. et al. (1999) Mutations in MVK, encoding mevalonate kinase, cause hyper-immunoglobulinaemia D and periodic fever syndrome. Nature Genet., 22, 175-177.
9. Hoffman,H.M., Mueller,J.L., Broide,D.H., Wanderer,A.A. and Kolodner,R.D. (2001) Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nature Genet., 29, 301-305.
10. Feldmann,J., Prieur,A.M., Quartier,P., Berquin,P., Cortis,E., Teillac-Hamel,D. and Fischer,A. (2002) Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am. J. Hum. Genet., 71, 198-203.