adenosine deaminase deficiency
(redirected from ADA deficiency)adenosine deaminase deficiency
A uniformly fatal autosomal dominant [MIM 102700] disease, which consitutes 40% of patients with sever combined immunodeficiency disease.Clinical findings
Cellular immune dysfunction, oral candidiasis, intractable diarrhoea, failure to thrive, severe diaper rash, pseudoachondrodysplasia, death by age 2.
Lab
Lymphopaenia < 0.5 x 109/L (US, < 500 mm3), especially T cells; eosinophilia; increased adenosine and deoxyadenosine in serum and urine.
Management
Gene therapy; rarely, bone marrow transplantation.
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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.McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.