Adenosine Deaminase Deficiency

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

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Exam MCQ

Adenosine deaminase deficiency is seen in the following:

A. Common variable immunodeficiency.

B. Severe combined immunodeficiency

C. Chronic granulomatous disease

D. Nezelof syndrome

Ans B

    • Adenosinedeaminase deficiency
      • Converts adenosine to inosine in purine salvage pathway.
      • Excess ATP, dATP in nucleotide pool = imbalance (feedback inhibition of ribonucleotidereductase, preventing DNA synthesis), so decreased lymphocyte count
      • major cause of SCID, severe combined immunodeficiencydz, e.g. "bubble boy"

    image 1

     

    image 2

     

    image 3

    Exam MCQ

    Adenosine deaminase deficiency is seen in the following:

    A. Common variable immunodeficiency.

    B. Severe combined immunodeficiency

    C. Chronic granulomatous disease

    D. Nezelof syndrome

    Ans B

     

      • Adenosinedeaminase deficiency
        • Converts adenosine to inosine in purine salvage pathway.
        • Excess ATP, dATP in nucleotide pool = imbalance (feedback inhibition of ribonucleotidereductase, preventing DNA synthesis), so decreased lymphocyte count
        • major cause of SCID, severe combined immunodeficiencydz, e.g. "bubble boy"

      image 1

       

      image 2

       

      image 3

      Exam MCQ

      Adenosine deaminase deficiency is seen in the following:

      A. Common variable immunodeficiency.

      B. Severe combined immunodeficiency

      C. Chronic granulomatous disease

      D. Nezelof syndrome

      Ans B

       



      Pathophysiology Of Severe Combined Immune Deficiency
      ADA DEFICIENCY
      ADA Deficiency
      Adenosine Deaminase Deficiency (ADA)