The defective gene in X-linked severe combined immunodeficiency encodes a shared interleukin receptor subunit: implications for cytokine pleiotropy and redundancy.
The interleukin-2 receptor plays a pivotal role in the regulation of the normal T cell immune response to foreign antigen. The IL-2 receptor gamma-chain is one component of this receptor, and is encoded by the gene that is defective in X-linked severe combined immunodeficiency. The clinical manifestations of this disease led to the hypothesis and subsequent confirmation that the gamma-chain was in fact a subunit shared by multiple cytokine receptors, including those for IL-2, IL-4, and IL-7.
Leonard
W J
WJ
Laboratory of Molecular Immunology, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892.
D016207:Cytokines / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D018123:Receptors, Interleukin / Q000235:genetics*; D015375:Receptors, Interleukin-2 / Q000235:genetics; D019948:Receptors, Interleukin-4; D020395:Receptors, Interleukin-7; D016511:Severe Combined Immunodeficiency / Q000235:genetics*; D014960:X Chromosome
D016207:Cytokines; D018123:Receptors, Interleukin; D015375:Receptors, Interleukin-2; D019948:Receptors, Interleukin-4; D020395:Receptors, Interleukin-7