Adenosine deaminase deficiency: metabolic basis of immune deficiency and pulmonary inflammation
MR Blackburn, RE Kellems - Advances in immunology, 2005 - Elsevier
Genetic deficiencies in the purine catabolic enzyme adenosine deaminase (ADA) in humans
results primarily in a severe lymphopenia and immunodeficiency that can lead to the death
of affected individuals early in life. The metabolic basis of the immunodeficiency is likely
related to the sensitivity of lymphocytes to the accumulation of the ADA substrates
adenosine and 2′-deoxyadenosine. Investigations using ADA-deficient mice have
provided compelling evidence to support the hypothesis that T and B cells are sensitive to …
results primarily in a severe lymphopenia and immunodeficiency that can lead to the death
of affected individuals early in life. The metabolic basis of the immunodeficiency is likely
related to the sensitivity of lymphocytes to the accumulation of the ADA substrates
adenosine and 2′-deoxyadenosine. Investigations using ADA-deficient mice have
provided compelling evidence to support the hypothesis that T and B cells are sensitive to …