Primary immunodeficiency diseases: dissectors of the immune system.

Journal Article (Journal Article)

The past 50 years have seen enormous progress in this field. An unknown concept until 1952, there are now more than 100 different primary immunodeficiency syndromes in the world's literature. Each novel syndrome has shed new insight into the workings of the immune system, dissecting its multiple parts into unique functioning components. This has been especially true over the past decade, as the molecular bases of approximately 40 of these diseases have been identified in rapid succession. Advances in the treatment of these diseases have also been impressive. Antibody replacement has been improved greatly by the development of human immunoglobulin preparations that can be safely administered by the intravenous route, and cytokine and humanized anticytokine therapies are now possible through recombinant technologies. The ability to achieve life-saving immune reconstitution of patients with lethal severe combined immunodeficiency by administering rigorously T-cell-depleted allogeneic related haploidentical bone marrow stem cells has extended this option to virtually all such infants, if diagnosed before untreatable infections develop. Finally, the past 3 years have witnessed the first truly successful gene therapy. The impressive results in X-linked severe combined immunodeficiency offer hope that this approach can be extended to many more diseases in the future.

Full Text

Duke Authors

Cited Authors

  • Buckley, RH

Published Date

  • July 2002

Published In

Volume / Issue

  • 185 /

Start / End Page

  • 206 - 219

PubMed ID

  • 12190932

Pubmed Central ID

  • 12190932

International Standard Serial Number (ISSN)

  • 0105-2896

Digital Object Identifier (DOI)

  • 10.1034/j.1600-065x.2002.18517.x


  • eng

Conference Location

  • England