Article
Mutations in the gene for the common gamma chain (gammac) in X-linked severe combined immunodeficiency.
Human genetics - 1 Dec 1998
Fugmann S D, Müller S, Friedrich W, Bartram C R, Schwarz K
Abstract excerpt
X-linked severe combined immunodeficiency (XSCID) constitutes a disorder of the immune system caused by mutations in the gene encoding the common gamma chain (gammac), a subunit of the IL-2, IL-4, IL-7, IL-9 and IL-15 receptors, which are necessary for lymphocyte development and function. In this...
Topics
- B-Lymphocytes
- Female
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymorphism, Single-Stranded Conformational
- Receptors, Interleukin
- Receptors, Interleukin-2
- Severe Combined Immunodeficiency
- Sex Chromosome Aberrations
- T-Lymphocytes
- X Chromosome