Immunodeficiency Diseases

Publisher Website
Google Scholar
Abstract
UNTIL the acquired immunodeficiency syndrome (AIDS) emerged six years ago,1defects in immunity were considered rare. It is important to realize, however, that it was from patients with genetic abnormalities of the immune system2-5that the functions and components of the normal immune system were elucidated, information that was later applied to the delineation of the immunologic abnormalities in AIDS.1Immunodeficiency diseases may involve any of the components of the immune system, including lymphocytes, phagocytic cells, and complement proteins.2-4Despite considerable advances in understanding of the cellular and molecular abnormalities present in the various known primary immune defects,5it is clear that the fundamental biologic errors for most of them remain unknown.2-4Exceptions include two accompanied by purine salvage pathway enzyme deficiencies—adenosine deaminase (ADA) in some cases of autosomal recessive severe combined immunodeficiency (SCID) and purine nucleoside phosphorylase (PNP) in some patients with Nezelof's