Neutropenia in patients with adenosine deaminase deficiency

Background Adenosine deaminase (ADA) deficiency is a disorder where the accumulation of purine metabolites, which are particularly toxic to lymphocytes, can lead to severe, life threatening infections. In addition, ADA deficiency also affects other tissues. Few reports describe the presence of neutropenia in these patients, primarily in older patients after hematopoietic stem cell transplantation (HSCT) or gene therapy. We hypothesized that abnormal purine metabolism could also affect granulopoiesis.