eISSN: 1644-4124
ISSN: 1426-3912
Central European Journal of Immunology
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3-4/2005
vol. 30
 
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abstract:

Review paper
Immunodeficiency information services

Hilkka Piirilä
,
Crina Samarghitean
,
Jouni Väliaho
,
Mauno Vihinen

(Centr Eur J Immunol 2005; 30 (3-4): 89-98)
Online publish date: 2006/10/10
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Primary immunodeficiency diseases are a group of inherited, mainly rare disorders affecting the immune system. We have created three, complementary, Internet services for the efficient retrieval and usage of immunodeficiency related data. The ImmunoDeficiency Resource (IDR) is a comprehensive knowledge base and starting point for many types of information regarding immunodeficiencies. To ensure the credibility of the data, experts validate all the information available on this site. The Immunodeficiency Databases (IDbases) contain mutation information on approximately 110 affected genes and more than 4100 patients. Patient-related mutation data indicate the frequency of certain mutations and facilitate genotype-phenotype correlations. The Immunodeficiency Diagnostics (IDdiagnostics) registry collects, describes, identifies and disseminates information about immunodeficiency tests from genetic and clinical diagnostic laboratories. The service is important, because only a few laboratories perform tests for rare IDs. All three services are freely available at http://bioinf.uta.fi/. The most recent project, the PIDexpert, is a medical expert system designed to suggest diagnoses based on symptoms, medical history, physical findings and laboratory tests. The PIDexpert service will be available in the near future.
keywords:

immunodeficiency, IDR, fact files, Internet services, IDbases, IDdiagnostics, databases, diagnostics, genetic tests, PIDexpert

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