Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Systematic classification of primary immunodeficiencies based on clinical, pathological, and laboratory parameters.

The classification of diseases has several important applications ranging from diagnosis and choice of treatment to demographics. To date, classifications have been successfully created manually, often within international consortia. Some groups of diseases, such as primary immunodeficiencies (PIDs), are especially hard to nosologically cluster due, on one hand, to the presence of a wide variety of disorders and, in contrast, because of overlapping characteristics.

Bioinformatics services related to diagnosis of primary immunodeficiencies.

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.

IDR knowledge base for primary immunodeficiencies.

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.

Online registry of genetic and clinical immunodeficiency diagnostic laboratories, IDdiagnostics.

Primary immunodeficiencies (IDs) are caused by inherited genetic defects leading to intrinsic defects in cells of the immune systems. Most IDs are rare diseases and can be difficult to diagnose because similar symptoms characterize several disorders. Mutation detection is the most reliable method in such cases.