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adenosine deaminase deficiency |
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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. How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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| ? Mentioned in | ? References in periodicals archive | ||
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| Most children with ADA deficiency can be treated with bone marrow
transplants or regular injections of the missing enzyme. In all three efforts to cure ADA deficiency, the children treated now
seem healthy. ADA deficiency is a form of the disease
suffered by David, the "boy in the bubble," who died in 1984
in Houston at age 12. |
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