Skip to main content

Advertisement

SpringerLink
Log in

Severe combined immunodeficiency: new advances in diagnosis and treatment

  • Published:
Immunologic Research Aims and scope Submit manuscript

Abstract

Severe combined immunodeficiency (SCID) is a condition characterized by lack of cellular and humoral immunity. Uniformly fatal before 1968, SCID was first cured by allogeneic bone marrow transplantation (BMT). Despite improvements in BMT, particularly for cases in which there is no matched related donor, difficulties in SCID treatment persist. Because of incomplete reconstitution and transplant-related complications, gene therapy has been pioneered in SCID with success, but also adverse events in the form of leukemic proliferations related to retroviral insertional mutagenesis. Infectious complications are a major limitation to effective treatment. Early diagnosis of SCID in the pre-symptomatic period could be achieved by population-based newborn screening.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Puck JM. X-linked severe combined immunodeficiency. In: Ochs H, Smith CIE, Puck JM, editors. Primary immunodeficiency diseases, a molecular and genetic approach. 2nd ed. New York, NY: Oxford University Press; 2007 (Chapter 9)

    Google Scholar 

  2. Gatti RA, Meuwissen HJ, Allen HD, Hong R, Good RA. Immunological reconstitution of sex-linked lymphopenic immunological deficiency. Lancet 1968;7583:946–7

    Google Scholar 

  3. Haddad E, Landais P, Friedrich W, et al. Long term immune reconstitution and outcome after HLA-nonidentical T-cell depleted bone marrow transplantation for severe combined immunodeficiency: a European retrospective study of 116 patients. Blood 1998;91:3646–53

    PubMed  CAS  Google Scholar 

  4. Buckley RH, Schiff SE, Schiff RI, et al. Hematopoietic stem cell transplantation for the treatment of severe combined immunodeficiency. New Engl J Med 1999;340:508–16

    Article  PubMed  CAS  Google Scholar 

  5. Antoine C, Muller S, Cant A, et al. Long-term survival and transplantation of hematopoietic stem cells for immunodeficiencies: report of the European experience 1968–1999. Lancet 2003;361:553–6

    Article  PubMed  Google Scholar 

  6. Buckley RH, Fischer A. Bone marrow transplantation for primary immunodeficiency diseases. In: Ochs H, Smith CIE, Puck JM, editors. Primary immunodeficiency diseases, a molecular, genetic approach. 2nd ed. New York NY: Oxford University Press; 2007 (Chapter 47)

    Google Scholar 

  7. Cavazzana-Calvo M, Hacein-Bey S, de Saint Basile G, et al. Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science 2000;288:669–72

    Article  PubMed  CAS  Google Scholar 

  8. Aiuti A, Slavin S, Aker M, et al. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 2002;296:2410–3

    Article  PubMed  CAS  Google Scholar 

  9. Gaspar HB, Parsley KL, Howe S, et al. Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector. Lancet 2004;364:2181–7

    Article  PubMed  CAS  Google Scholar 

  10. Hacein-Bey-Abina S, Von Kalle C, Schmidt M, et al. LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science 2003;302:415–9

    Article  PubMed  CAS  Google Scholar 

  11. Chinen J, Davis J, De Ravin SS, et al. Gene therapy improves immune function in pre-adolescents with X-linked severe combined immunodeficiency. Blood 2007 (in press)

  12. Douek DC, McFarland RD, Keiser PH, et al. Changes in thymic function with age and during the treatment of HIV infection. Nature 1998;396:690–5

    Article  PubMed  CAS  Google Scholar 

  13. Myers LA, Patel DD, Puck JM, Buckley RH. Hematopoietic stem cell transplantation for SCID in the neonatal period leads to superior thymic output and improved survival. Blood 2002;99:872–8

    Article  PubMed  CAS  Google Scholar 

  14. Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol 2005;115:391–8

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

Thanks to co-investigators Harry Malech and Javier Chinen and the entire NIH gene therapy team, Kee Chan for TREC assay development, Susan Panny of the Maryland newborn screening program, and the patients and their physicians who made these studies possible.

Author information

Authors and Affiliations

  1. Department of Pediatrics, University of California, HSE 301A, 513 Parnassus Avenue, San Francisco, CA, 94143-0519, USA

    Jennifer M. Puck

Authors
  1. Jennifer M. Puck
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Jennifer M. Puck.

Additional information

Presented at the First Robert A Good Society Symposium, St. Petersburg, FL 2006.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Puck, J.M. Severe combined immunodeficiency: new advances in diagnosis and treatment. Immunol Res 38, 64–67 (2007). https://doi.org/10.1007/s12026-007-0029-8

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12026-007-0029-8

Keywords

Search

Navigation