Recent advances in the genetics of primary immunodeficiency disease

Considerable advances have been made in our understanding of the genetics of primary immunodeficiencies over the last few years. The genetic defects underlying many forms of severe combined immunodeficiency, antibody deficiency, and neutrophil disorders are now known, raising the possibility of curative gene therapy for severe defects. These advances have also led to significant changes in our knowledge of basic mechanisms, not only of immunologic control but of cellular development and gene regulation.