Consanguinity and Primary Immunodeficiencies

Consanguinity and primary immunodeficiencies.

Primary immunodeficiencies (PIDs) are a heterogeneous group of genetic disorders caused by defects in the immune system that predispose patients to infections, autoimmune diseases, lymphoproliferation and malignancies. Most PIDs are inherited in an autosomal recessive pattern; therefore, they are more common in areas with high rates of consanguineous marriage. Reports about PIDs from these area...

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 ...

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.

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...