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The adenosine deaminase deficiency results into

Question

The adenosine deaminase deficiency results into

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Solution

Adenosine deaminase (ADA) deficiency is a genetic disorder that damages the immune system and causes severe combined immunodeficiency (SCID). This condition makes it difficult for the body to fight off infections.

Here are the steps that lead to this condition:

  1. Mutation in ADA Gene: ADA deficiency is caused by mutations in the ADA gene. This gene provides instructions for producing the enzyme adenosine deaminase, which is critical for the function of immune cells called lymphocytes.

  2. Lack of ADA Enzyme: The ADA enzyme is involved in the breakdown of molecules called purines. Without enough of this enzyme, harmful substances can build up in the body, particularly in the lymphocytes.

  3. Damage to Immune System: The buildup of harmful substances damages the lymphocytes and disrupts their ability to fight off infections. This leads to the immune system problems seen in people with ADA deficiency.

  4. Development of SCID: Most people with ADA deficiency develop severe combined immunodeficiency (SCID), a condition characterized by recurrent severe infections, such as pneumonia and chronic diarrhea. If not treated in a timely manner, these infections can be fatal.

  5. Other Health Problems: In addition to immune system problems, ADA deficiency can cause other health problems, including developmental delay, behavioral problems, hearing loss, and lung damage.

In summary, ADA deficiency results in a severely compromised immune system, making individuals susceptible to recurrent and potentially life-threatening infections.

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