Final answer:
ADA deficiency is a genetic disorder that affects the immune system. The pathogenesis involves the accumulation of deoxyadenosine, which leads to the destruction of immune cells. Gene therapy has been used to treat ADA deficiency.
Step-by-step explanation:
ADA deficiency, also known as adenosine deaminase deficiency, is a genetic disorder that affects the immune system. People with this disorder lack the ADA enzyme, which normally breaks down a toxin called deoxyadenosine. Without ADA, the toxin builds up and destroys immune cells, resulting in a weakened immune system.
The pathogenesis of ADA deficiency can be explained by the accumulation of deoxyadenosine, which leads to the destruction of immune cells. This ultimately results in a compromised immune system and increased susceptibility to infections. Gene therapy has been used to treat ADA deficiency by inserting the missing ADA gene into bone marrow stem cells and reinfusing them into the patient's bloodstream.