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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. Want to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit the webmaster's page for free fun content. |
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