Hepatic Dysfunction as a Complication of Adenosine Deaminase Deficiency

Complete deficiency of adenosine deaminase causes severe combined immunodeficiency that is inherited as an autosomal recessive trait. The patients present in infancy with recurrent infections, lymphopenia, defective proliferative responses to mitogens, hypogammaglobulinemia, and an inability to mount specific antibody responses. Patients with a low level of residual adenosine deaminase activity have a later onset of clinical disease owing to a slower and sometimes less complete loss of immune function.1–3 Unlike other primary immunodeficiencies caused by defects in lymphocyte signaling pathways,4 adenosine deaminase deficiency is a systemic metabolic disorder. The enzymatic defect is expressed in all cells, and therefore the . . .