lnterleukin-2 Receptor y Chain Mutation Results in X-Linked Severe Combined Immunodeficiency in Humans

By M. Noguchi, Hua-Wei Yi, H. Rosenblatt, A. Filipovich, S. Adelstein, W. Modi, O. W. Mcbrlde, W. Leonard. 2008

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IL-2 Family Cytokines: New Insights into the Complex Roles of IL-2 as a Broad Regulator of T helper Cell Differentiation (2011, background): “gc is encoded by the gene, IL2RG, that is mutated in humans with X-linked severe combined immunodeficiency (XSCID) [6 ] and physically recruits JAK3, which when mutated also causes an XSCID-like TBNK form of SCID [7,8].”
The X chromosome in immune functions: when a chromosome makes the difference (2010, background): “) or crucial for lymphocyte differentiation — for example, mutations of FOXP3 and interleukin-2 receptor-γ ( IL2RG ; also known as the common cytokine receptor γ-chain) are responsible for immunodysregulation, polyendocrinopathy enteropathy, X-linked syndrome (IPEX) and X-linked severe combined im”
NetPath: a public resource of curated signal transduction pathways (2010, background): “Mutations in the IL2RG gene result in X-linked severe combined immunodeficiency disease [39].”
Hematopoiesis: a human perspective. (2012, background): “By contrast, gc deficiency in human SCID patients is characterized by T, but not B, cell deficiency (Noguchi et al., 1993); similarly, SCID patients with IL-7R mutations often have normal B cell counts (Puel et al.”
Janus kinases in immune cell signaling (2009, background): “Indeed, in most cases the disease is caused due to mutations of the cc chain, encoded by the X-lined gene designated IL-2 receptor c (IL2Rc) (75).”