Plasma deoxyadenosine, adenosine, and erythrocyte deoxyATP are elevated at birth in an adenosine deaminase-deficient child.
Open Access
- 1 March 1980
- journal article
- case report
- Published by American Society for Clinical Investigation in Journal of Clinical Investigation
- Vol. 65 (3) , 768-771
- https://doi.org/10.1172/jci109725
Abstract
We have determined concentrations of adenosine, deoxyadenosine, and deoxyATP (dATP) in cord blood from an infant prenatally diagnosed as ADA deficient. Plasma deoxyadenosine and adenosine were already elevated in cord blood (0.7 and 0.5 microM vs. normal of less than 0.07 microM). Elevation of plasma deoxyadenosine has not previously been documented in these children. Erythrocyte dATP content was also elevated at birth (215 nmol/ml packed erythrocytes vs. normal of 2.9). These elevated concentrations of adenosine, deoxyadenosine, and dATP are similar to those we observed in another older adenosine deaminase-deficient patient and may explain the impaired immune function and lymphopenia seen at birth.Keywords
This publication has 15 references indexed in Scilit:
- Erythrocyte Adenosine Deaminase Deficiency without ImmunodeficiencyJournal of Clinical Investigation, 1979
- In Vivo and in Vitro Effects of Thymosin and Adenosine Deaminase on Adenosine-Deaminase-Deficient LymphocytesNew England Journal of Medicine, 1979
- Adenosine deaminase deficiency: disappearance of adenine deoxynucleotides from a patient's erythrocytes after successful marrow transplantation.Journal of Clinical Investigation, 1978
- Purine Metabolism and Immunodeficiency: Urinary Purine Excretion as a Diagnostic Screening Test in Adenosine Deaminase and Purine Nucleoside Phosphorylase DeficiencyClinical Science, 1978
- Purine metabolism in adenosine deaminase deficiency.Proceedings of the National Academy of Sciences, 1976
- RESTORATION OF IN-VITRO LYMPHOCYTE RESPONSES WITH EXOGENOUS ADENOSINE DEAMINASE IN A PATIENT WITH SEVERE COMBINED IMMUNODEFICIENCYThe Lancet, 1975
- Severe Combined Immunodeficiency and Adenosine Deaminase DeficiencyNew England Journal of Medicine, 1975
- Combined immunodeficiency disease associated with adenosine deaminase deficiency: Report on a Workshop Held in Albany, New York, October 1, 1973The Journal of Pediatrics, 1975
- ADENOSINE-DEAMINASE DEFICIENCY IN TWO PATIENTS WITH SEVERELY IMPAIRED CELLULAR IMMUNITYThe Lancet, 1972
- A rapid quantitative determination of deoxyribonucleoside triphosphates based on the enzymatic synthesis of DNABiochimica et Biophysica Acta (BBA) - Nucleic Acids and Protein Synthesis, 1969