Article
Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development.
Science (New York, N.Y.) - 3 Nov 1995
Russell S M, Tayebi N, Nakajima H, Riedy M C, Roberts J L, Aman M J, Migone T S, Noguchi M, Markert M L, Buckley R H, O'Shea J J, Leonard W J
Abstract excerpt
Males with X-linked severe combined immunodeficiency (XSCID) have defects in the common cytokine receptor gamma chain (gamma c) gene that encodes a shared, essential component of the receptors of interleukin-2 (IL-2), IL-4, IL-7, IL-9, and IL-15. The Janus family tyrosine kinase Jak3 is the only signaling molecule known to be associated with gamma c, so it was hypothesized that defects in Jak3 might cause an...
Topics
- Amino Acid Sequence
- Animals
- B-Lymphocytes
- Base Sequence
- Cell Line, Transformed
- Female
- Frameshift Mutation
- Genetic Linkage
- Humans
- Infant
- Interleukin-4