Immunologic Research

, Volume 22, Issue 2, pp 237–251

Advances in the understanding and treatment of human severe combined immunodeficiency

  • Rebecca H. Buckley
Article

DOI: 10.1385/IR:22:2-3:237

Cite this article as:
Buckley, R.H. Immunol Res (2000) 22: 237. doi:10.1385/IR:22:2-3:237

Abstract

Human severe combined immunodeficiency (SCID) can result from mutations in any one of at least seven different genes, including those for adenosine deaminase, the common cytokine receptor gamma chain, Janus kinase 3, IL-7 receptor alpha chain, recombinase activation genes 1 and 2, and CD45. Except for adenosine deaminase, knowledge concerning the latter causes of human SC ID has accured since 1993. Advances in the treatment of this syndrome have been no less significant. Since 1982 it has been possible, by rigorous depletion of T cells from the donor marrow to use related marrow donors other than HLA-identical siblings for successful treatment of infants with this condition. The success rate with the latter type of transplant exceeds 95% if a transplant can be performed within the first 3.5 mo of life, making early diagnosis crucial. Recently, gene therapy has also been successful in infants with X-linked SCID.

Key Words

Severe combined immunodeficiency (SCID) Genetic defects causing SCID Marrow transplantation Recent thymic emigrants Gene therapy 

Copyright information

© Humana Press Inc 2000

Authors and Affiliations

  • Rebecca H. Buckley
    • 1
  1. 1.Department of Pediatrics and ImmunologyDuke University Medical CenterDurham

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