Article
Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.
The Journal of clinical investigation - 1 Nov 1993
Santisteban I, Arredondo-Vega F X, Kelly S, Mary A, Fischer A, Hummell D S, Lawton A, Sorensen R U, Stiehm E R, Uribe L
Abstract excerpt
We examined the genetic basis for adenosine deaminase (ADA) deficiency in seven patients with late/delayed onset of immunodeficiency, an underdiagnosed and relatively unstudied condition. Deoxyadenosine-mediated metabolic abnormalities were less severe than in the usual, early-onset disorder. Six...
Topics
- Adenosine Deaminase
- Adolescent
- Amino Acid Sequence
- Base Sequence
- Child
- Child, Preschool
- Cloning, Molecular
- DNA Primers
- DNA, Complementary
- Deoxyadenosines
- Female
- Genetic Variation
- Heterozygote
- Homozygote