Micheal Hershfield's research while affiliated with Duke University Medical Center and other places
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Publication (1)
Adenosine deaminase (ADA) deficiency is a rare autosomal recessive disorder of purine metabolism that leads to severe combined immunodeficiency (SCID) by primarily affecting lymphocyte development and function. ADA deficiency is a medical emergency. Early diagnosis and treatment could provide low morbidity and mortality. Patients present in the fir...
Citations
... Moreover, low activity of ADA leads to accumulation of lymph-toxic deoxyadenosine triphosphate inducing apoptosis in immature thymocytes. 3,4 It is widely recognized that ADA deficiency leads to severe combined immunodeficiency disease (SCID), which is linked with severe lymphopenia and dysfunction of natural killer (NK), B, and T cells. 5 A high amount of ADA activity, on the other hand, can lead to a variety of severe disorders such as tuberculous peritonitis and leukemia. ...
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