Infevers: an evolving mutation database for auto-inflammatory syndromes.
The Infevers database (http://fmf.igh.cnrs.fr/infevers/) was established in 2002 to provide investigators with access to a central source of information about all sequence variants associated with periodic fevers: Familial Mediterranean fever (FMF), TNF Receptor Associated Periodic Syndrome (TRAPS), Hyper IgD Syndrome (HIDS), Familial Cold Autoinflammatory Syndrome/Muckle-Wells Syndrome/Chronic Infantile Neurological Cutaneous and Articular Syndrome (FCAS/MWS/CINCA). The prototype of this group of disorders is FMF, a recessive disease characterized by recurrent bouts of unexplained inflammation. FMF is the pivotal member of an expanding family of autoinflammatory disorders, a new term coined to describe illnesses resulting from a defect of the innate immune response. Therefore, we decided to extend the Infevers database to genes connected with autoinflammatory diseases. We present here the biological content of the Infevers database, including the introduction of two new entries: Crohn/Blau and Pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA syndrome). Infevers has a range of query capabilities, allowing for simple or complex interrogation of the database. Currently, the database contains 291 sequence variants in related genes (MEFV, TNFRSF1A, MVK, CARD15, PSTPIP1, and CIAS1), consisting of published data and personal communications, which has revealed or refined the preferential mutational sites for each gene. This database will continue to evolve in its content and to improve in its presentation.
Touitou
Isabelle
I
Hopital A de Villeneuve, Laboratoire de Genetique, Montpellier, France. Isabelle.touitou@igh.cnrs.fr
Lesage
Suzanne
S
McDermott
Michael
M
Cuisset
Laurence
L
Hoffman
Hal
H
Dode
Catherine
C
Shoham
Nitza
N
Aganna
Ebun
E
Hugot
Jean-Pierre
JP
Wise
Carol
C
Waterham
Hans
H
Pugnere
Denis
D
Demaille
Jacques
J
Sarrauste de Menthiere
Cyril
C
D001168:Arthritis / Q000145:classification / Q000235:genetics; D030541:Databases, Genetic; D010505:Familial Mediterranean Fever / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics; D007072:Immunoglobulin D / Q000235:genetics; D007249:Inflammation / Q000235:genetics*; D020407:Internet; D009154:Mutation; D017511:Pyoderma Gangrenosum / Q000235:genetics; D013577:Syndrome; D014581:Urticaria / Q000235:genetics; D014584:User-Computer Interface
D007072:Immunoglobulin D