Article
A novel mutant gammac chain from a patient with typical phenotype of X-linked severe combined immunodeficiency (SCID) has partial signalling function for mediating IL-2 and IL-4 receptor action.
Clinical and experimental immunology - 1 Feb 1999
Kumaki S, Ochs H D, Kuropatwinski K K, Konno T, Timour M S, Cosman D, Baumann H
Abstract excerpt
Mutations of the common gamma (gammac) chain result in X-linked SCID (X-SCID), which is characterized by the reduction in number or absence of peripheral blood T cells and natural killer (NK) cells, with retention of normal numbers of B cells. In the present study we describe a novel mutant gamma...
Topics
- Genetic Linkage
- Humans
- Infant
- Janus Kinase 3
- Male
- Mutation
- Phenotype
- Protein-Tyrosine Kinases
- Receptors, Colony-Stimulating Factor
- Receptors, Interleukin
- Receptors, Interleukin-2
- Receptors, Interleukin-4
- Response Elements
- Severe Combined Immunodeficiency