Adenosine deaminase deficiency | Anatomy2Medicine
Adenine Deaminase (ADA)Deficiency

Adenosine deaminase deficiency

 

  • Adenosine deaminase deficiency

 

    • Converts adenosine to inosine in purine salvage pathway.
    • Excess ATP, dATP in nucleotide pool = imbalance (feedback inhibition of ribonucleotide reductase, preventing DNA synthesis), so decreased lymphocyte count
    • major cause of SCID, severe combined immunodeficiency dz, e.g. “bubble boy”

Exam MCQ

Adenosine deaminase deficiency is seen in the following:

  1. Common variable immunodeficiency.
  2. Severe combined immunodeficiency
  3. Chronic granulomatous disease
  4. Nezelof syndrome

Ans B