Primary Immune Deficiencies: Windows into the Immune System

摘要

The inherited immune deficiencies have been invaluable instructors, extending our understanding of the contribution of components of the immune system to host defense. The information provided by studying these disorders also has generated new avenues of therapy, applications of which have influenced the treatment of a range of other human diseases. Currently, more than 120 genetic defects are associated with immune deficiency, and it appears that these numbers will continue to grow. This expansion of knowledge is being driven, in part, by clinicians becoming more aware of the subtleties of immune function and linking clinical phenotypes to potential immune deficiencies. This article focuses on the range of human immune deficiencies in the context of the underlying immunologic defects and associated infections.