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

ADA deficiency:

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

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