Purpose of review: Most primary immunodeficiencies (PIDs) have overlapping signs and symptoms - presenting a challenge for diagnosis. The information available from the Internet for over 200 PIDs is scattered between numerous services and databases. Patient information has been collected in different patient registries. Several software tools have been developed in order to build the databases, expert systems and other information systems useful in diagnosis or prediction.
Recent findings: Previously released services have been significantly improved and some new bioinformatics tools have been developed to help in diagnosis, prediction, mutation analysis and classification of PIDs. Several national initiatives have been launched for centralized PID information services. The very latest additions are tools and approaches for PID candidate gene prioritization, systematic classification and a medical expert system to help in diagnosis.
Summary: Many bioinformatics tools for PIDs are already freely available over the Internet. We expect bioinformatics tools to further help healthcare professionals in diagnosis, analysis and prediction. Currently, most of the resources are stand-alone and thus their integration will be a challenge for the future. Another challenge is to develop terminologies, ontologies and standards to achieve semantic interoperability.