Question

Severe Combined Immunodeficiency Disease (SCID) caused by adenosine deaminase (ADA) deficiency arises due to which pathological mechanism?

Options

• Defective cleavage of proinsulin leading to autoimmune destruction of pancreatic beta cells

• Accumulation of toxic metabolites resulting from defective ADA, which destroys lymphocytes

• Failure of \(\beta\)-galactosidase synthesis in bone marrow stem cells

• Excess production of disulphide bonds in plasma immunoglobulins

Answer 1

Adenosine deaminase (ADA) is crucial for normal immune system function. Absence or defect of the ADA gene results in the accumulation of toxic purine metabolites that kill lymphocytes, leading to SCID.