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Clinical and Developmental Immunology
Volume 13 (2006), Issue 2-4, Pages 223-259
http://dx.doi.org/10.1080/17402520600800705

Current Perspectives on Primary Immunodeficiency Diseases

Division of Rheumatology, Allergy and Clinical Immunology, Department of Internal Medicine, University of California at Davis School of Medicine, Davis, CA, USA

Copyright © 2006 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Since the original description of X-linked agammaglobulinemia in 1952, the number of independent primary immunodeficiency diseases (PIDs) has expanded to more than 100 entities. By definition, a PID is a genetically determined disorder resulting in enhanced susceptibility to infectious disease. Despite the heritable nature of these diseases, some PIDs are clinically manifested only after prerequisite environmental exposures but they often have associated malignant, allergic, or autoimmune manifestations. PIDs must be distinguished from secondary or acquired immunodeficiencies, which are far more common. In this review, we will place these immunodeficiencies in the context of both clinical and laboratory presentations as well as highlight the known genetic basis.