Article
Novel deletion and a new missense mutation (Glu 217 Lys) at the catalytic site in two adenosine deaminase alleles of a patient with neonatal onset adenosine deaminase- severe combined immunodeficiency.
Journal of immunology (Baltimore, Md. : 1950) - 1 Nov 1992
Hirschhorn R, Nicknam M N, Eng F, Yang D R, Borkowsky W
Abstract excerpt
Mutations at the adenosine deaminase (ADA) locus result in a spectrum of disorders, encompassing a fulminant neonatal onset severe combined immunodeficiency (SCID) and childhood onset immunodeficiency, as well as apparently normal immune function. The extent of accumulation of the toxic metabolite, deoxyATP, correlates directly with severity of disease. We have now determined the mutations on both alleles of a...
Topics
- Adenosine Deaminase
- Alleles
- Ampicillin
- Base Sequence
- Chromosomes, Human, Pair 2
- Concanavalin A
- DNA Probes
- Deoxyadenine Nucleotides
- Deoxyadenosines
- Drug Therapy, Combination