Version 1.3 last updated 8 August, 2014 contains 74 public entries |
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Short description of the ADAbase : Adenosine deaminase (ADA) deficiency accounts for about half of the autosomal recessive forms of SCIDs. ADA follows PNP in purine nucleoside catabolism, but deficiency in this enzyme causes even more severe symptoms than PNP deficiency, which is a T cell deficiency. ADA degrades toxic adenosine and deoxyadenosine, which accumulate in the cells of patients. Immature lymphoid cells are particularly sensitive to these nucleotides. In addition to immunological defect, most patients with ADA deficiency also have skeletal abnormalities. 
 Our other bioinformatics services: SH2base - Database for pathogenic SH2 domain variations KinMutBase - A registry of disease-causing variations in protein kinase domains IDbases are linked to University of California Santa Cruz (UCSC) genome browser: ADAbase |
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ADAbase Variation registry for Adenosine deaminase deficiency (ADA) |
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