IDR knowledge base for primary immunodeficiencies

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...

Primary immunodeficiencies

Primary immunodeficiencies (PID) are inherited disorders of immune system function [1,2] characterised by absent or low response to infectious agents and a high prevalence of autoimmune manifestations and lymphoproliferative diseases. More than 120 PID in which a molecular defect causes the disease have been identified. The IUIS/WHO Experts Committee published a classification of all PID known ...

Gene Therapy for Primary Immunodeficiencies

Primary immunodeficiencies (PID) are caused by mutations in genes involved in the normal development or activity of the immune system [1, 2]. PIDs include Band T-cell defects, phagocytic disorders, and complement deficiencies with the common feature of frequent lifethreatening infections. The phenotypes vary from asymptomatic (IgA deficiency) to severe PIDs (such as Severe combined immunodefici...

Primary immunodeficiencies: 2009 update.

More than 50 years after Ogdeon Bruton's discovery of congenital agammaglobulinemia, human primary immunodeficiencies (PIDs) continue to unravel novel molecular and cellular mechanisms that govern development and function of the human immune system. This report provides the updated classification of PIDs that has been compiled by the International Union of Immunological Societies Expert Committ...

The primary immunodeficiencies.