Article
Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans.
Cell - 9 Apr 1993
Noguchi M, Yi H, Rosenblatt H M, Filipovich A H, Adelstein S, Modi W S, McBride O W, Leonard W J
Abstract excerpt
The interleukin-2 (IL-2) receptor gamma chain (IL-2R gamma) is a component of high and intermediate affinity IL-2 receptors that is required to achieve full ligand binding affinity and internalization. We have localized the IL-2R gamma gene to human chromosome Xq13. Genetic linkage analysis indicates that the IL-2R gamma gene and the locus for X-linked severe combined immunodeficiency (XSCID) appear to be at the...
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