ImmunoDeficiency Resource (IDR)

Category Cross-Omics>Knowledge Bases/Databases/Tools

Abstract The ImmunoDeficiency Resource (IDR) is a knowledge base (KB) 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.

The IDR knowledge base, first released in 1999, has grown substantially.

It contains information for over 158 diseases, both from a clinical as well as molecular point of view. The database and the user interface have been reformatted.

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.

The IDR is one of the first knowledge base’s that are specifically designed to capture in a systematic and validated way both clinical and molecular information for primary immunodeficiencies.

The service is freely available and is regularly updated. The IDR facilitates primary immunodeficiencies informatics and helps to parameterize in silico modeling of these diseases.

The IDR is useful also as an advanced education tool for medical students, and physicians.

Background --

Primary immunodeficiency disorders (PIDs) impair the function of the immune system. Patients with these intrinsic defects have increased susceptibility to recurrent and persistent infections, and they may also have autoimmune and cancer related symptoms.

Most PIDs are rare and the diagnosed patients for a condition are often randomly spread out around the world. More than 150 PIDs affecting the immune system have been described and more than 100 genes involved in PIDs have been identified.

The number of mutations, that are identified in unrelated families with different PIDs totals over 4,500.

The ‘General Information’ class --

Immunodeficiencies in the IDR are classified according to the molecular defects criteria with links to the Online Mendelian Inheritance in Man (OMIM) database. Information about the affected genes and loci are provided and linked with corresponding services.

The ESID and PAGID recommendations for diagnostic criteria, the American Academy of Allergy, Asthma and Immunology (AAAAI) parameters, and different diagnostic guidelines are also included.

There is also a list for PID abbreviations.

At the core of the system are 'fact files', which store information regarding disorders, genes, mutations, protein sequences, online resources, organizations and associations.

At present there are fact files for over 158 diseases. The user interface allows fast access to this information.

International Classification of Diseases (ICD) codes are provided for those diseases where the codes are available. Each fact file provides basic information about the disease and the affected gene. The fact files have hyperlinks to other reliable Internet resources.

The fact file data model and the Inherited Disease Markup Language (IDML) were developed to facilitate disease information integration, storage and exchange.

The fact files make use of the following specifications, standards and databases: HUGO nomenclature, Swiss-Prot, GeneCards (see G6G Abstract Number 20170), and SOURCE.

The IDML fact files have been generated for each PID. The major concepts in the fact files are general information, clinical information, molecular biology and other resources - all of which are linked to related information services. Each of these elements comprises one or more additional levels.

The Bioinformatics class --

The bioinformatics section integrates numerous Web based services (Ensemble, Source, EntrezGene, euGenes, GeneLynx, UniGene, GeneCards, GenAtlas).

Reference sequences for PID genes are available for DNA and RNA from the EMBL database, and for protein data from SwissProt.

When available, there are links to the protein structures and visualization tools in the Protein Data Bank (PDB).

The Immunodeficiency mutation databases (IDbases) section provides, in addition to the manufacturer's mutation registries, links to other IDbases.

At the moment the manufacturer has over 120 databases with over 4,500 patient entries.

The Immunology and Interest Group classes --

The immunology section lists collections of immunology related data sources including lectures on immunology and immunodeficiencies, and links to over 40 online immunology journals.

A new feature is the glossary, which provides explanations for more than 800 immunology terms.

Glossary terms are cross linked by each other, so by clicking one of these terms, such as 'antigen', Not only is the explanation for the term provided, but also for a group of terms related to 'antigen'.

This gives a broad overview of immunology terminology, which also makes it a useful tool for education.

The interest group section contains links to immunology, immunodeficiency, and nursing and patient organizations. Several societies are related to immunodeficiency research, care and patients.

The list of meetings and workshops is continuously updated.

System Requirements



Manufacturer Web Site IDR

Price Contact manufacturer.

G6G Abstract Number 20413

G6G Manufacturer Number 104042