IDR knowledge base for primary immunodeficiencies

Abstract

Background: The ImmunoDeficiency Resource (IDR) is a knowledge base for the integration of the clinical, biochemical, genetic, genomic, proteomic, structural, and computational data of primary immunodeficiencies. The need for the IDR arises from the lack of structured and systematic information about primary immunodeficiencies on the Internet, and from the lack of a common platform which enables doctors, researchers, students, nurses and patients to find out validated information about these diseases.

Description: The IDR knowledge base, first released in 1999, has grown substantially. It contains information for 158 diseases, both from a clinical as well as molecular point of view. The database and the user interface have been reformatted. This new IDR release has a richer and more complete breadth, depth and scope. The service provides the most complete and up-to-date dataset. The IDR has been integrated with several internal and external databases and services. The contents of the IDR are validated and selected for different types of users (doctors, nurses, researchers and students, as well as patients and their families). The search engine has been improved and allows either a detailed or a broad search from a simple user interface.

Conclusion: The IDR is the first knowledge base specifically designed to capture in a systematic and validated way both clinical and molecular information for primary immunodeficiencies. The service is freely available at http://bioinf.uta.fi/idr and is regularly updated. The IDR facilitates primary immunodeficiencies informatics and helps to parameterise in silico modelling of these diseases. The IDR is useful also as an advanced education tool for medical students, and physicians.

Figure 1

Concept map for the IDR knowledge service. IDR is composed of web pages grouped in to different class categories and a fact file database. The system is integrated with different internal and external databases to serve a wide category of users.

Figure 2

IDR user interface. Screenshots of the main IDR pages. The new user interface provides faster access to the information and different new features, such as classification of diseases (top left), the gene related with the PIDs and their reference sequences (top right), glossary terms for immunology (bottom right), and diagnostic tools (bottom left). At the core of the system are fact files that provide clinical and molecular information for 158 primary immunodeficiency diseases (centre).