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Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.

Publication ,  Journal Article
Arredondo-Vega, FX; Kurtzberg, J; Chaffee, S; Santisteban, I; Reisner, E; Povey, MS; Hershfield, MS
Published in: J Clin Invest
August 1990

T lymphocytes cultured from a patient (T.D.) with adenosine deaminase (ADA) deficiency expressed ADA activity in the normal range, inconsistent with her severe immunodeficiency, metabolic abnormalities, and with the absence of ADA activity in her B lymphocytes and other nucleated hematopoietic cells. ADA from T.D. T cells had normal Km, heat stability, and sensitivity to ADA inhibitors. Examination of HLA phenotype and polymorphic DNA loci indicated that T.D. was neither chimeric nor a genetic mosaic. Amplified and subcloned ADA cDNA from ADA+ T.D. T cells was shown by allele-specific oligonucleotide hybridization to possess the same mutations (Arg101----Trp, Arg211----His) previously found in the ADA-T.D. B cell line GM 2606 (Akeson, A. L., D. A. Wiginton, M. R. Dusing, J. C. States, and J. J. Hutton. 1988. J. Biol. Chem. 263:16291-16296). Our findings suggest that one of these mutant alleles can be expressed selectively in IL-2-dependent T cells as stable, active enzyme. Cultured T cells from other patients with the Arg211----His mutation did not express significant ADA activity, while some B cell lines from a patient with an Arg101----Gln mutation have been found to express normal ADA activity. We speculate that Arg101 may be at a site that determines degradation of ADA by a protease that is under negative control by IL-2 in T cells, and is variably expressed in B cells. Il-2 might increase ADA expression in T cells of patients who possess mutations of Arg101.

Duke Scholars

Published In

J Clin Invest

DOI

ISSN

0021-9738

Publication Date

August 1990

Volume

86

Issue

2

Start / End Page

444 / 452

Location

United States

Related Subject Headings

  • T-Lymphocytes
  • RNA, Messenger
  • Polymorphism, Restriction Fragment Length
  • Polymerase Chain Reaction
  • Oligonucleotide Probes
  • Nucleoside Deaminases
  • Mutation
  • Interleukin-2
  • Immunology
  • Immunologic Deficiency Syndromes
 

Citation

APA
Chicago
ICMJE
MLA
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Arredondo-Vega, F. X., Kurtzberg, J., Chaffee, S., Santisteban, I., Reisner, E., Povey, M. S., & Hershfield, M. S. (1990). Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency. J Clin Invest, 86(2), 444–452. https://doi.org/10.1172/JCI114730
Arredondo-Vega, F. X., J. Kurtzberg, S. Chaffee, I. Santisteban, E. Reisner, M. S. Povey, and M. S. Hershfield. “Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.J Clin Invest 86, no. 2 (August 1990): 444–52. https://doi.org/10.1172/JCI114730.
Arredondo-Vega FX, Kurtzberg J, Chaffee S, Santisteban I, Reisner E, Povey MS, et al. Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency. J Clin Invest. 1990 Aug;86(2):444–52.
Arredondo-Vega, F. X., et al. “Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.J Clin Invest, vol. 86, no. 2, Aug. 1990, pp. 444–52. Pubmed, doi:10.1172/JCI114730.
Arredondo-Vega FX, Kurtzberg J, Chaffee S, Santisteban I, Reisner E, Povey MS, Hershfield MS. Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency. J Clin Invest. 1990 Aug;86(2):444–452.

Published In

J Clin Invest

DOI

ISSN

0021-9738

Publication Date

August 1990

Volume

86

Issue

2

Start / End Page

444 / 452

Location

United States

Related Subject Headings

  • T-Lymphocytes
  • RNA, Messenger
  • Polymorphism, Restriction Fragment Length
  • Polymerase Chain Reaction
  • Oligonucleotide Probes
  • Nucleoside Deaminases
  • Mutation
  • Interleukin-2
  • Immunology
  • Immunologic Deficiency Syndromes