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adenosine deaminase deficiency

   Also found in: Wikipedia 0.04 sec.
adenosine deaminase deficiency
ADA deficiency A uniformly fatal AD disease, which consitutes 40% of Pts with SCID Clinical Cellular immune dysfunction, oral candidiasis, intractable diarrhea, FTT, severe diaper rash, pseudoachondrodysplasia, death by age 2 Lab ↓ Lymphocytes < 0.5 x 109/L–US, < 500 mm3, especially T cells; eosinophilia; ↑ adenosine and deoxyadenosine in serum and urine Treatment Gene therapy; rarely BMT. See Cartilage-hair syndrome.


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The project must clear other regulatory hurdles, but federal scientists say they may begin treating three or four children with adenosine deaminase deficiency as early as this fall.
In this clinical trial, Anderson's team successfully treated 4-year-old Ashanthi DeSilva for a rare blood disorder known as adenosine deaminase deficiency, or ADA deficiency, a disease which renders the body unable to fight even mild forms of infection.
 
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