Novel immunodeficiency data servers

Väliaho, Jouni
Riikonen, Pentti
Vihinen, Mauno

Authors' addresses Jouni Väliaho¹, Pentti Riikonen^1,2, Mauno Vihinen^1,3, ¹Institute of Medical Technology, University of Tampere, Finland. ²Department of Computer Science, University of Turku, Turku, Finland. ³Tampere University Hospital, Tampere, Finland.

Correspondence to: Mauno Vihinen; Institute of Medical Technology; FIN-33014 University of Tampere; Finland; Fax: 358 3 2157710; e-mail: [email protected]

Acknowledgements Financial support from the Finnish Academy, Sigrid Juselius Foundation, Tampere University Hospital Medical Research Fund, European concerted action BioMed2 PL963007, and EU BioTech BIO4-CT98-0142 are gratefully acknowledged.

Immunological Reviews 178:p 177-185, December 2000.

Summary:

The Internet contains scientific information in increasing amounts. It is possible to obtain the latest information, and Web services can easily be maintained and updated. We have set up three Internet services on immunodeficiencies. Immunodeficiency-related mutation information is available in immunodeficiency mutation databases (IDbases). Currently 14 registries are distributed, including information about Bloom syndrome (BLMbase), X-linked agammaglobulinemia (BTKbase), X-linked and autosomal recessive chronic granulomatous diseases (CYBBbase for X-linked CGD, CYBAbase for p22^phox deficiency, NCF1base for p47^phox deficiency, NCF2base for p67^phox deficiency), CD3γ and CD3ε deficiencies (CD3Gbase, CD3Ebase), X-linked hyper-IgM syndrome (CD40Lbase), T-B⁺ severe combined immunodeficiency (JAK3base), V(D)J recombination defects (RAG1base, RAG2base), X-linked lymphoproliferative syndrome (SH2D1Abase), and ZAP-70 deficiency (ZAP70base). Information on laboratories analysing the genetic defects is collected to IDdiagnostics registry. Due to the rareness of immunodeficiencies there are very few laboratories performing genetic diagnostics. Such laboratories are listed in IDdiagnostics and physicians can use the registry to find a suitable laboratory for their diagnostic needs. Immunodeficiency Resource (IDR) is a comprehensive integrated knowledge base for all the information on immunodeficiencies, including clinical, biochemical, genetic, structural and computational data and analyses. All three services are available at http://www.uta.fi/imt/bioinfo/.