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

In vivo role of IFN‐γ produced by antigen‐presenting cells in early host defense against intracellular pathogens

“…Mutation of + c results in X-linked SCID (X-SCID) in humans [46,47], which is the most causative SCID, as its incidence is 1/750,000, and about 50% of total cases of SCID are X-SCID. Many X-SCID patients succumbed to opportunistic infection as newborn or during their childhood.…”

Genetic control of susceptibility to infection with Mycobacterium tuberculosis in mice

“…IL-2 is produced by antigen-or mitogen-stimulated T cells, and has many biological activities including induction of growth and activation of T cells, B cells and NK cells. Deficiency in IL-2 and its receptor result in generalized fatal immunoproliferative disorder (XSCID) involving multiple organs, 47 and loss of self tolerance, including severe fatal colitis in the mouse. 48 Of particular interest is IL-12, which is produced by mononuclear phagocytes in response to a variety of pathogens, and induces differentiation of naïve CD4 + T cells into antigenspecific, IFN-␥ producing Th1 cells.…”

Characterization of an MDR1 retroviral bicistronic vector for correction of X-linked severe combined immunodeficiency

“…1 The disease is caused by mutations in the IL2RG gene encoding the interleukin-2 receptor ␥ chain (␥c) 2,3 shared by several interleukin receptors (IL-4, IL-7, IL-9 and IL-15). [4][5][6][7][8] The ␥c is a membrane protein widely expressed in a variety of peripheral blood cell populations including T cells, B cells, NK cells, monocytes and granulocytes.…”