dATP accumulation and ATP depletion in platelets in adenosine deaminase deficiency: Significance for the immune response?

Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency.

“…Clinical features in the first nine cases2-4 have invariably been related to a pronounced reduction in T cell numbers and function, with either normal or enhanced B cell function.17 Deoxyguanosine triphosphate (dGTP) has been found in the erythrocytes and implicated in the T cell dysfunction of the disorder. [2][3][4][5] The age at presentation has varied from birth to 6 years. Therapeutic approaches to restore immune competence have usually been unsuccessful.…”

“…Therapeutic approaches to restore immune competence have usually been unsuccessful. [2][3][4][5] patients have died from viral infection or lymphoma. 1-9 Successful engraftment after haploidentical bone marrow transplantation has been reported recently in a single case.")…”