Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency.

摘要

Adenosine deaminase (ADA) is expressed in all tissues in varying levels and controlled in a cell-specific, developmentally programmed fashion. The highest level of ADA is expressed in the thymus, followed by peripheral lymphoid tissues and'the gastrointestinal tract.Complete ADA deficiency, inherited as an autosomal recessive trait, causes a systemic metabolic disorder and severe combined immunodeficiency. The immunodeficiency is thought to be secondary to the accumulation of purine metabolites, which are cytotoxic to immature lymphocytes. The typical manifestation of ADA deficiency is profound T-cell, B-cell, and natural killer cell lymphopenia, resulting in failure to thrive and recurrent or persistent infections, which can be fatal.