Article
Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.
American journal of human genetics - 1 Jul 1994
Hirschhorn R, Yang D R, Israni A, Huie M L, Ownby D R
Abstract excerpt
Absent or severely reduced adenosine deaminase (ADA) activity produces inherited immunodeficiency of varying severity, with defects of both cellular and humoral immunity. We report somatic mosaicism as the basis for a delayed presentation and unusual course of a currently healthy young adult rece...
Topics
- Adenosine Deaminase
- Alleles
- Arginine
- B-Lymphocytes
- Base Sequence
- Cell Line
- Child, Preschool
- Chromosomes, Human, Pair 16
- Chromosomes, Human, Pair 20
- DNA Mutational Analysis
- Deoxyadenine Nucleotides
- Electrophoresis, Polyacrylamide Gel
- Glutamine
- Humans