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Citations to this article

Overproduction of adenine deoxynucleosides and deoxynucletides in adenosine deaminase deficiency with severe combined immunodeficiency disease.
J Donofrio, … , B Lampkin, J Dyminski
J Donofrio, … , B Lampkin, J Dyminski
Published October 1, 1978
Citation Information: J Clin Invest. 1978;62(4):884-887. https://doi.org/10.1172/JCI109201.
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Overproduction of adenine deoxynucleosides and deoxynucletides in adenosine deaminase deficiency with severe combined immunodeficiency disease.

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Abstract

The deoxynucleotide, dATP, is elevated 50- to 1,000-fold above normal in erythrocytes, lymphocytes, and bone marrow from a child with adenosine deaminase deficiency and severe combined immunodeficiency disease. The child, when 17 mo of age, was also excreting approximately 30 mg of deoxyadenosine per day in urine (normal is less than 0.1 mg/day). Urinary excretion of uric acid was decreased. Elevated dATP levels in lymphocytes and bone marrow, and increased urinary excretion of deoxyadenosine, persisted despite hypertransfusion of the child with irradiated erythrocytes from a donor with normal adenosine deaminase. Overproduction of deoxynucleotides by increased salvage of adenosine appears to be the primary metabolic abnormality in patients with adenosine de aminase deficiency.

Authors

J Donofrio, M S Coleman, J J Hutton, A Daoud, B Lampkin, J Dyminski

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1980
The biochemical basis of immunodeficiency disease
KO Raivio
European Journal of Pediatrics 1980
Purine Metabolism in Man—III
A Rapado, RW Watts, CH Bruyn
1980
Purine Metabolism in Man-III: Clinical and Therapeutic Aspects
A Rapado, RW Watts, CH Bruyn
1980
Human placental adenosine kinase. Kinetic mechanism and inhibition
TD Palella, CM Andres, IH Fox
The Journal of biological chemistry 1980
Adenosine deaminase impairment and ribonucleotide reductase activity and levels in HeLa cells
AL Lin, HL Elford
The Journal of biological chemistry 1980
Alterations in deoxyribonucleotide metabolism in cultured cells with ribonucleotide reductase activities refractory to feedback inhibition by 2'-deoxyadenosine triphosphate
B Ullman, SM Clift, LJ Gudas, BB Levinson, MA Wormsted, DW Martin
The Journal of biological chemistry 1980
Adenosine deaminase inhibitors: Their role in chemotherapy and immunosuppression
RI Glazer
Cancer Chemotherapy and Pharmacology 1980
Severe combined immunodeficiency and adenosine deaminase deficiency: failure of enzyme replacement therapy.
Ziegler JB, Lee CH, Van der Weyden MB, Bagnara AS, Beveridge J
Archives of disease in childhood 1980
In vivo inactivation of erythrocyte S-adenosylhomocysteine hydrolase by 2'-deoxyadenosine in adenosine deaminase-deficient patients
MS Hershfield, NM Kredich, DR Ownby, H Ownby, R Buckley
Journal of Clinical Investigation 1979
In vitro of adenosine on lymphocytes and erythrocytes from horses with combined immunodeficiency
NS Magnuson, LE Perryman
Journal of Clinical Investigation 1979
Purinogenic Immunodeficiency Diseases DIFFERENTIAL EFFECTS OF DEOXYADENOSINE AND DEOXYGUANOSINE ON DNA SYNTHESIS IN HUMAN T LYMPHOBLASTS
JM Wilson, BS Mitchell, PE Daddona, WN Kelley
Journal of Clinical Investigation 1979
Adenosin-Deaminase-Aktivität in Blutzellen
J Zajaczkowski, I Reubi, P Joller, M Fràter, HJ Plüss, WH Hitzig, U Zellweger
Research in Experimental Medicine 1979
Biochemical basis for the enhanced toxicity of deoxyribonucleosides toward malignant human T cell lines
DA Carson, J Kaye, S Matsumoto, JE Seegmiller, L Thompson
Proceedings of the National Academy of Sciences 1979
Combined immunodeficiency and thymic abnormalities
AD Webster
Journal of clinical pathology. Supplement (Royal College of Pathologists) 1979
Biochemical basis for differential deoxyadenosine toxicity to T and B lymphoblasts: role for 5'-nucleotidase
RL Wortmann, BS Mitchell, NL Edwards, IH Fox
Proceedings of the National Academy of Sciences 1979
Modulation of Protein Function
WN Valentine, DE Paglia
Modulation of Protein Function 1979
Immunological and biochemical profiles in response to transfusion therapy in an adenosine deaminase-deficient patient with severe combined immunodeficiency disease
JW Dyminski, A Daoud, BC Lampkin, S Limouze, J Donofrio, MS Coleman, JJ Hutton
Clinical Immunology and Immunopathology 1979
Effect of erythro-9-(2-hydroxy-3-nonyl) adenine on purine and pyrimidine metabolism in the human peripheral lymphocyte during the early phases of phytohemagglutinin-mediated blastogenesis
S Skupp, G Vugrek, JH Ayvazian
Biochemical Pharmacology 1979
Nucleotide metabolism and nucleic acid synthesis in mouse thymocytes
JC Donofrio, J Meier, JJ Hutton
Cellular Immunology 1979
Contemporary Metabolism
N Freinkel
1979
Apparent suicide inactivation of human lymphoblast S-adenosylhomocysteine hydrolase by 2'-deoxyadenosine and adenine arabinoside. A basis for direct toxic effects of analogs of adenosine
MS Hershfield
The Journal of biological chemistry 1979
Nucleotide-metabolizing enzymes and lymphocyte differentiation
RW Barton, I Goldschneider
Molecular and Cellular Biochemistry 1979
Adenosine deaminase deficiency: disappearance of adenine deoxynucleotides from a patient's erythrocytes after successful marrow transplantation
SH Chen, HD Ochs, CR Scott, ER Giblett, AJ Tingle
Journal of Clinical Investigation 1978

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