Article
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
American journal of human genetics - 1 Oct 1998
Arredondo-Vega F X, Santisteban I, Daniels S, Toutain S, Hershfield M S
Abstract excerpt
Adenosine deaminase (ADA) deficiency causes lymphopenia and immunodeficiency due to toxic effects of its substrates. Most patients are infants with severe combined immunodeficiency disease (SCID), but others are diagnosed later in childhood (delayed onset) or as adults (late onset); healthy indiv...
Topics
- Adenine Nucleotides
- Adenosine Deaminase
- Adolescent
- Adult
- Age of Onset
- Alleles
- Child
- Child, Preschool
- Erythrocytes
- Gene Expression
- Genetic Heterogeneity
- Genotype
- Humans
- Infant
- Mutation
- Phenotype
- Purine-Pyrimidine Metabolism, Inborn Errors
- Reference Standards