Molecular characterization of the X-linked immunodeficiency diseases

Molecular characterization of the X-linked immunodeficiencies has proceeded at a remarkable pace, the responsible gene defects having now been identified for all but two of these diseases. The identification of multiple polymorphic markers that are closely linked to the various disease loci and the possibilities for both X-chromosome inactivation and direct mutation analyses, have made genetic prediction and disease prevention possible in almost all these disorders. Knowledge of the genetic lesions responsible for expression of these syndromes promises to provide many key insights not only into the pathogenesis of the specific immunodeficiency disorders, but also into the basic molecular mechanisms regulating normal immune cellular development and function. This information should in turn make possible the development and application of novel treatment strategies, such as somatic gene therapy for the improved management and potential cure of this class of human disease.