Article
Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes.
Human genetics - 1 Jul 1997
Hirschhorn R, Borkowsky W, Jiang C K, Yang D R, Jenkins T
Abstract excerpt
Deficiency of adenosine deaminase (ADA-) results in autosomal recessive immunodeficiency disease of varying severity. Partial ADA- [ADA deficiency in erythrocytes (RBCs) but substantial ADA in non-RBCs] has also been identified, primarily by population screening of healthy adults in Africa and newborns in New York State. Normal immune function and/or minimal elevations of toxic metabolites in childhood suggested...
Topics
- Adenosine
- Adenosine Deaminase
- Adult
- Animals
- COS Cells
- Cell Line, Transformed
- Child
- Deoxyadenine Nucleotides
- Deoxyadenosines
- Homozygote
- Humans