Article
Genetic cause of leukocyte adhesion molecule deficiency. Abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of beta 2 integrins.
The Journal of biological chemistry - 15 Feb 1992
Nelson C, Rabb H, Arnaout M A
Abstract excerpt
Patients with leukocyte adhesion molecule (CD11/CD18, beta 2 integrins) deficiency have structural defects in the common beta subunit (CD18), which prevent heterodimer formation and normal cell surface expression of these receptors, leading to life-threatening bacterial infections. To elucidate t...
Topics
- Amino Acid Sequence
- Animals
- Antigens, CD
- Base Sequence
- CD18 Antigens
- Cell Line, Transformed
- Cloning, Molecular
- Drosophila
- Genetic Vectors
- Herpesvirus 4, Human
- Humans
- Integrins
- Molecular Sequence Data
- Mutagenesis, Insertional
- Mutation
- Oligonucleotides, Antisense
- Polymerase Chain Reaction
- RNA Splicing