Which lab findings are characteristic of ADA deficiency?

Updated: May 27, 2020
  • Author: Francisco J Hernandez-Ilizaliturri, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

The erythrocyte deoxy-ATP level is increased in patients with ADA deficiency. The values in carriers are half to two thirds of the normal values of erythrocyte deoxy ATP. Lymphopenia is more severe than in other SCID syndromes (ie, < 500/μ L). Although the number of B and NK cells is decreased, their function is quasinormal, and they normalize completely after bone marrow transplantation without pretransplantation chemotherapy.


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