Identification and quantitation of adenine deoxynucleotides in erythrocytes of a patient with adenosine deaminase deficiency and severe combined immunodeficiency.

Abstract

Deoxyadenosine 5'-triphosphate and deoxyadenosine 5'diphosphate are the most abundant nucleotides in erythrocytes of an untreated child with adenosine deaminase deficiency and severe combined immunodeficiency disease.Since ATP and ADP are the predominant nucleotides in normal erythrocytes and the deoxynucleotides are virtually absent, the high levels of dATP and dADP represent a major perturbation of the normal nucleotide pool.Levels of adenine nucleotides present in erythrocytes from the affected child, as quantitated by high pressure liquid chromatography, are: ATP, 91; dATP, 157; ADP,