Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans

The interleukin-2 receptor (IL-2R) gamma chain is shown to have a mutation that leads to X-linked severe combined immunodeficiency (XSCID) in humans. This is proven through in situ chromosomal hybridization with particular plasmids. Thus, the relation between the IL-2R gamma gene and XSCID has important implications for prenatal and postnatal diagnosis, carrier female detection and gene therapy for XSCID. In addition, valuable insight is given to B cells, thymic maturation of bone marrow-derived precursor human T cells and the impact of other components of the IL-2-IL-2 receptor system.