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.
J Donofrio, M S Coleman, J J Hutton, A Daoud, B Lampkin, J Dyminski
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The Lancet | 1992 |
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Blood Reviews | 1987 |
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1987 | |
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1986 | |
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Journal of Clinical Investigation | 1985 |
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Journal of Investigative Dermatology | 1985 |
Roles of Alternative Synthetic and Catabolic Purine Pathways in T Lymphocyte Differentiationa
A Cohen, J Barankiewicz, EW Gelfand |
Annals of the New York Academy of Sciences | 1985 |
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Annals of the New York Academy of Sciences | 1985 |
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Annals of the New York Academy of Sciences | 1985 |
Adenosine Deaminase and Immune Dysfunction Biochemical Correlates Defined by Molecular Analysis throughout a Disease Coursea
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Annals of the New York Academy of Sciences | 1985 |
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HL Elford, AL Lin |
Annals of the New York Academy of Sciences | 1985 |
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British Journal of Clinical Pharmacology | 1985 |
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Annals of the New York Academy of Sciences | 1985 |
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Immunodeficiencies Associated with Errors in Purine Metabolism
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Medical Clinics of North America | 1985 |
Varicella pneumonia in a bone marrow-transplanted, immune-reconstituted adenosine deaminase-deficient patient with severe combined immunodeficiency disease
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Journal of Clinical Immunology | 1985 |
Mechanisms of deoxyadenosine toxicity in human lymphoid cells in vitro: relevance to the therapeutic use of inhibitors of adenosine deaminase
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British Journal of Haematology | 1984 |
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Scandinavian Journal of Haematology | 1984 |
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Cellular Immunology | 1984 |
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HA Simmonds, A Goday, GS Morris, M Foppe, J Brolsma |
Biochemical Pharmacology | 1984 |
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Biochimica et Biophysica Acta (BBA) - Molecular Cell Research | 1984 |
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CH Bruyn, HA Simmonds, MM Müller |
1984 | |
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Evidence for distinct catabolic pathways of adenine ribonucleotides and deoxyribonucleotides in human T lymphoblastoid cells
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PE Daddona, BS Mitchell, HJ Meuwissen, BL Davidson, JM Wilson, CA Koller |
Journal of Clinical Investigation | 1983 |
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TS Chan, BD Lakhchaura, TF Hsu |
Biochemical Journal | 1983 |
Purine metabolism in relation to leukemia and lymphoid cell differentiation
JP Laarhoven, CH Bruyn |
Leukemia Research | 1983 |
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JK Nicholson, DS Gordon, JS McDougal |
Cellular Immunology | 1983 |
S-adenosylhomocysteine hydrolase activity, deoxyadenosine triphosphate accumulation, and competence of thymocyte and spleen leucocyte response to mitogens in coformycin-treated mice
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GJ Peters, RA Abreu, A Oosterhof, JH Veerkamp |
Biochimica et Biophysica Acta (BBA) - General Subjects | 1983 |
Adenosine deaminase in human epidermis from healthy and psoriatic subjects
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Archives of Dermatological Research | 1983 |
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G Nuki |
Annals of the rheumatic diseases | 1983 |
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The Journal of biological chemistry | 1983 |
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EG Davies, RJ Levinsky, DR Webster, HA Simmonds, D Perrett |
Clinical & Experimental Immunology | 1982 |
Mechanism of deoxyadenosine-induced catabolism of adenine ribonucleotides in adenosine deaminase-inhibited human T lymphoblastoid cells
AS Bagnara, MS Hershfield |
Proceedings of the National Academy of Sciences | 1982 |
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H Ratech, L Kuritsky, GJ Thorbecke, R Hirschhorn |
Cellular Immunology | 1982 |
Effects of adenosine and deoxyadenosine on pha-stimulation of lymphocytes of man, horse and pig
GJ Peters, A Oosterhof, JH Veerkamp |
International Journal of Biochemistry | 1982 |
Kinetic considerations for the regulation of adenosine and deoxyadenosine metabolism in mouse and human tissues based on a thymocyte model
FF Snyder, T Lukey |
Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression | 1982 |
Deoxyadenosine triphosphate accumulation in erythrocytes of deoxycoformycin-treated mice
CM Smith, JF Henderson |
Biochemical Pharmacology | 1982 |
Reciprocal relationship between erythrocyte ATP and deoxy-ATP levels in inherited ADA deficiency
HA Simmonds, RJ Levinsky, D Perrett, DR Webster |
Biochemical Pharmacology | 1982 |
The regulatory role of adenosine-activated T-lymphocyte subset on the immune response in humans
H Bessler, M Djaldetti, C Moroz |
Cellular Immunology | 1982 |
Renal handling of 2′-deoxyadenosine and adenosine in humans and mice
JF Kuttesch, JA Nelson |
Cancer Chemotherapy and Pharmacology | 1982 |
Isolation of deoxycoformycin-resistant cells with increased levels of adenosine deaminase
PA Hoffee, SW Hunt, J Chiang |
Somatic Cell Genetics | 1982 |
Proposed explanation for S-adenosylhomocysteine hydrolase deficiency in purine nucleoside phosphorylase and hypoxanthine-guanine phosphoribosyltransferase-deficient patients
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Journal of Clinical Investigation | 1981 |
Biochemical and functional abnormalities in lymphocytes from an adenosine deaminase-deficient patient during enzyme replacement therapy
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Journal of Clinical Investigation | 1981 |
Bone marrow transplantation only partially restores purine metabolites to normal in adenosine deaminase-deficient patients
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Journal of Clinical Investigation | 1981 |
Studies on the Biochemical Sequelae of Therapy in Thy-Acute Lymphoblastic Leukaemia with the Adenosine Deaminase Inhibitor 2’Deoxycoformycin
NH Russell, HG Prentice, N Lee, A Piga, K Ganeshaguru, JF Smyth, AV Hoffbrand |
British Journal of Haematology | 1981 |
The Metabolism of Adenosine and Distribution of Adenosine Receptor Lymphocytes in two Human Circulating T Cell Subsets
H Bessler, S Brosh, O Sperling, M Djaldetti, C Moroz |
Immunopharmacology and Immunotoxicology | 1981 |
Increased ascorbic acid content in chronic lymphocytic leukemia B lymphocytes
L Liebes, R Krigel, S Kuo, D Nevrla, E Pelle, R Silber |
Proceedings of the National Academy of Sciences | 1981 |
Purification, characterization and radioimmunoassay of adenosine deaminase from human leukaemic granulocytes
DA Wiginton, MS Coleman, JJ Hutton |
Biochemical Journal | 1981 |
Metabolic basis for disorders of purine nucleotide degradation
IH Fox |
Metabolism | 1981 |
In vitro effects of adenosine deaminase inhibitors on lymphocyte mitogen responsiveness in the mouse
M Ballow, AG Pantschenko |
Cellular Immunology | 1981 |
Activity of deoxyinosine-activated nucleotidase in lymphoid tissues and circulating cells
H Tjernshaugen |
International Journal of Biochemistry | 1981 |
Adenosine and deoxyadenosine metabolism in mammalian lymphocytes
GJ Peters, A Oosterhof, JH Veerkamp |
International Journal of Biochemistry | 1981 |
Identification and quantitation of ascorbic acid in extracts of human lymphocytes by high-performance liquid chromatography
LF Liebes, S Kuo, R Krigel, E Pelle, R Silber |
Analytical Biochemistry | 1981 |
Continous-flow scanning of selected high-performance liquid chromatography peak components by microprocessor control
LF Liebes |
Journal of Chromatography A | 1981 |
Adenosine kinase from human liver
Y Yamada, H Goto, N Ogasawara |
Biochimica et Biophysica Acta (BBA) - Enzymology | 1981 |
ADENOSINE DEAMINASE IN HUMAN SKIN
YP Kim, JB Kahng, JY Chon, CW Ihm |
The Journal of Dermatology | 1981 |
Adenosine deaminase polymorphism. Associations at clinical level suggest a role in cell functions and immune reactions
E Bottini, E Carapella, L Cataldi, M Nicotra, P Lucarelli, N Lucarini, R Pascone, F Gloria-Bottini |
Journal of medical genetics | 1981 |
Immunodeficiency Syndromes Associated with Inherited Metabolic Disorders
MJ Cowan, AJ Ammann |
Clinics in Haematology | 1981 |
Plasma deoxyadenosine, adenosine, and erythrocyte deoxyATP are elevated at birth in an adenosine deaminase-deficient child
R Hirschhorn, V Roegner, A Rubinstein, P Papageorgiou |
Journal of Clinical Investigation | 1980 |
Immunoreconstitution by Peripheral Blood Leukocytes in Adenosine Deaminase-deficient Severe Combined Immunodeficiency
KC Rich, CM Richman, E Mejias, P Daddona |
Journal of Clinical Investigation | 1980 |
ATP depletion as a consequence of adenosine deaminase inhibition in man
MF Siaw, BS Mitchell, CA Koller, MS Coleman, JJ Hutton |
Proceedings of the National Academy of Sciences | 1980 |
Resistance of an adenosine kinase-deficient human lymphoblastoid cell line to effects of deoxyadenosine on growth, S-adenosylhomocysteine hydrolase inactivation, and dATP accumulation
MS Hershfield, NM Kredich |
Proceedings of the National Academy of Sciences | 1980 |
Purine Nucleoside Phosphorylase Deficiency: Improved Metabolic and Immunologic Function with Erythrocyte Transfusions
KC Rich, E Mejias, IH Fox |
New England Journal of Medicine | 1980 |
Lymphocyte 5′-nucleotidase deficiency in hypogammaglobulinemia: Clinical characteristics
NL Edwards, JT Cassidy, IH Fox |
Clinical Immunology and Immunopathology | 1980 |
Purine Metabolism in Man-III
A Rapado, RW Watts, CH Bruyn |
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 |