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Adenosine deaminase deficiency: clinical expression, molecular basis, and therapy.

Publication ,  Journal Article
Hershfield, MS
Published in: Semin Hematol
October 1998

Adenosine deaminase (ADA) deficiency is the first known cause of severe combined immunodeficiency disease (SCID). Over the past 25 years, the metabolic basis for immune deficiency has largely been established. The clinical spectrum associated with ADA deficiency is now quite broad, including older children and adults. The ADA gene has been sequenced, the structure of the enzyme has been determined, and over 50 ADA gene mutations have been identified. There appears to be a quantitative relationship between residual ADA activity, determined by genotype, and both metabolic and clinical phenotype. ADA deficiency has become a focus for novel approaches to enzyme replacement and gene therapy. Enzyme replacement with polyethylene glycol (PEG)-modified ADA, used to treat patients who lack a human leukocyte antigen (HLA)-matched bone marrow donor, is safe and effective, but expensive. Several approaches to gene therapy have been investigated in patients receiving PEG-ADA. Persistent expression of transduced ADA cDNA in T lymphocytes and myeloid cells has occurred in a few patients, but significant improvement in immune function because of the transduced cells has not been shown. The major barrier to effective gene therapy remains the low efficiency of stem cell transduction with retroviral vectors.

Duke Scholars

Published In

Semin Hematol

ISSN

0037-1963

Publication Date

October 1998

Volume

35

Issue

4

Start / End Page

291 / 298

Location

United States

Related Subject Headings

  • Severe Combined Immunodeficiency
  • Immunology
  • Humans
  • Genetic Therapy
  • Adenosine Deaminase
  • 3201 Cardiovascular medicine and haematology
  • 1102 Cardiorespiratory Medicine and Haematology
 

Citation

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Hershfield, M. S. (1998). Adenosine deaminase deficiency: clinical expression, molecular basis, and therapy. Semin Hematol, 35(4), 291–298.
Hershfield, M. S. “Adenosine deaminase deficiency: clinical expression, molecular basis, and therapy.Semin Hematol 35, no. 4 (October 1998): 291–98.
Hershfield, M. S. “Adenosine deaminase deficiency: clinical expression, molecular basis, and therapy.Semin Hematol, vol. 35, no. 4, Oct. 1998, pp. 291–98.
Hershfield MS. Adenosine deaminase deficiency: clinical expression, molecular basis, and therapy. Semin Hematol. 1998 Oct;35(4):291–298.
Journal cover image

Published In

Semin Hematol

ISSN

0037-1963

Publication Date

October 1998

Volume

35

Issue

4

Start / End Page

291 / 298

Location

United States

Related Subject Headings

  • Severe Combined Immunodeficiency
  • Immunology
  • Humans
  • Genetic Therapy
  • Adenosine Deaminase
  • 3201 Cardiovascular medicine and haematology
  • 1102 Cardiorespiratory Medicine and Haematology