Pathology
Some mutations in the gene for adenosine deaminase cause it to be not expressed. The resulting deficiency is one cause of severe combined immunodeficiency (SCID). Deficient levels of ADA has also been associated with pulmonary inflammation, thymic cell death, and defective T-cell receptor signaling.
Conversely, mutations causing this enzyme to be overexpressed are one cause of hemolytic anemia .
There is some evidence that a different allele (ADA2) may lead to autism.
Elevated levels of ADA has also been associated with AIDS.
Read more about this topic: Adenosine Deaminase
Famous quotes containing the word pathology:
“It is often said that Poland is a country where there is anti-semitism and no Jews, which is pathology in its purest state.”
—Bronislaw Geremek (b. 1932)