Immunodeficiency caused by adenosine deaminase deficiency
Adenosine deaminase (ADA) deficiency occurs in approximately 15% of patients with SCID, and also causes less severe forms of combined immunodeficiency. Immunodeficiency results from effects of the ADA substrates, adenosine and deoxyadenosine, and their metabolites. More than 60 ADA gene mutations have been identified. There is a good correlation between the effects of mutations on ADA catalytic activity, the level of deoxyadenosine nucleotides in red blood cells, and clinical phenotype. In addition to bone marrow transplantation, ADA deficiency can be treated effectively by enzyme replacement with polyethylene glycol-conjugated ADA (PEG-ADA). Gene therapy has been used in combination with PEG-ADA, but its efficacy as an independent modality has not been established.
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