cause of adenosine deaminase deficiency in a person
Answers
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♦ Cause: Adenosine deaminase deficiency is caused by changes (mutations) in the ADA gene.
♦ This gene encodes an enzyme that is found in the lymphocytes (specialized white blood cells), which are an important part of the immune system and help protect the body from infections.
♦ The function of this enzyme is to convert a substance that is harmful to lymphocytes (called deoxyadenosine) to a non-toxic material.
♦ Mutations in the ADA gene cause this enzyme to have reduced or absent function, allowing deoxyadenosine to buildup in the lymphocytes.
♦ This results in the loss of lymphocytes before they are able to mature and fight infection, leading to severe combined immunodeficiency.
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