IL2RG

Summary

Gene Symbol: IL2RG
Description: interleukin 2 receptor subunit gamma
Alias: CD132, CIDX, IL-2RG, IMD4, P64, SCIDX, SCIDX1, cytokine receptor common subunit gamma, CD132 antigen, IL-2 receptor subunit gamma, IL-2R subunit gamma, common cytokine receptor gamma chain, gammaC, interleukin 2 receptor, gamma
Species: human
Products:     IL2RG

Top Publications

  1. Bamborough P, Hedgecock C, Richards W. The interleukin-2 and interleukin-4 receptors studied by molecular modelling. Structure. 1994;2:839-51 pubmed
    ..In addition, they may be of use in the identification of residues which may interact in the ligand-receptor interfaces, and which would therefore be worthy of further investigation. ..
  2. Noguchi M, Nakamura Y, Russell S, Ziegler S, Tsang M, Cao X, et al. Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor. Science. 1993;262:1877-80 pubmed
    ..These findings may help explain the defects of XSCID. Given its role in more than one cytokine receptor system, the common gamma chain (gamma c) is proposed as the designation for IL-2R gamma. ..
  3. Takeshita T, Asao H, Ohtani K, Ishii N, Kumaki S, Tanaka N, et al. Cloning of the gamma chain of the human IL-2 receptor. Science. 1992;257:379-82 pubmed
    ..Thus, the gamma chain is an indispensable component of the functional IL-2R. ..
  4. Giri J, Kumaki S, Ahdieh M, Friend D, Loomis A, Shanebeck K, et al. Identification and cloning of a novel IL-15 binding protein that is structurally related to the alpha chain of the IL-2 receptor. EMBO J. 1995;14:3654-63 pubmed
    ..IL-15R alpha is structurally similar to IL-2R alpha; together they define a new cytokine receptor family. The distribution of IL-15 and IL-15R alpha mRNA suggests that IL-15 may have biological activities distinct from IL-2. ..
  5. Russell S, Johnston J, Noguchi M, Kawamura M, Bacon C, Friedmann M, et al. Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: implications for XSCID and XCID. Science. 1994;266:1042-5 pubmed
    ..Thus, gamma c mutations in at least some XSCID and XCID patients prevent normal Jak3 activation, suggesting that mutations of Jak3 may result in an XSCID-like phenotype. ..
  6. Kondo M, Takeshita T, Ishii N, Nakamura M, Watanabe S, Arai K, et al. Sharing of the interleukin-2 (IL-2) receptor gamma chain between receptors for IL-2 and IL-4. Science. 1993;262:1874-7 pubmed
    ..These results suggest that the IL-2 receptor gamma chain is functionally involved in the IL-4 receptor complex. ..
  7. Russell S, Keegan A, Harada N, Nakamura Y, Noguchi M, Leland P, et al. Interleukin-2 receptor gamma chain: a functional component of the interleukin-4 receptor. Science. 1993;262:1880-3 pubmed
  8. Ellery J, Nicholls P. Alternate signalling pathways from the interleukin-2 receptor. Cytokine Growth Factor Rev. 2002;13:27-40 pubmed
    ..This review intends to suggest a role for these differences within the context of the immune system. ..
  9. Cosenza L, Gorgun G, Urbano A, Foss F. Interleukin-7 receptor expression and activation in nonhaematopoietic neoplastic cell lines. Cell Signal. 2002;14:317-25 pubmed
    ..The expression of functional IL-7R on epithelial tumour cells may represent a potential target for receptor-directed therapy. ..

More Information

Publications114 found, 100 shown here

  1. Zhang J, Foster D, Sebald W. Human IL-21 and IL-4 bind to partially overlapping epitopes of common gamma-chain. Biochem Biophys Res Commun. 2003;300:291-6 pubmed
    ..These results open the way to understand the molecular recognition mechanism in the IL-21 receptor system and also the promiscuous binding properties of gamma(c). ..
  2. García Tuñón I, Ricote M, Ruiz A, Fraile B, Paniagua R, Royuela M. Interleukin-2 and its receptor complex (alpha, beta and gamma chains) in in situ and infiltrative human breast cancer: an immunohistochemical comparative study. Breast Cancer Res. 2004;6:R1-7 pubmed
    ..The development of breast tumour is associated with an increased expression of IL-2 and its three receptor chains, and this expression also seems to be associated with the malignancy of the tumour. ..
  3. Stauber D, Debler E, Horton P, Smith K, Wilson I. Crystal structure of the IL-2 signaling complex: paradigm for a heterotrimeric cytokine receptor. Proc Natl Acad Sci U S A. 2006;103:2788-93 pubmed
    ..The IL-2/gamma(c) interface itself exhibits the smallest buried surface and the fewest hydrogen bonds in the complex, which is consistent with its promiscuous use in other cytokine receptor complexes. ..
  4. Puck J, Deschenes S, Porter J, Dutra A, Brown C, Willard H, et al. The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet. 1993;2:1099-104 pubmed
    ..We considered this gene, IL2RG, a candidate for the X-linked form of severe combined immunodeficiency at the SCIDX1 locus, in which affected males have impaired lymphocyte development...
  5. Wang X, Rickert M, Garcia K. Structure of the quaternary complex of interleukin-2 with its alpha, beta, and gammac receptors. Science. 2005;310:1159-63 pubmed
    ..3 angstroms, the binding of IL-2Ralpha to IL-2 stabilizes a secondary binding site for presentation to IL-2Rbeta. gammac is then recruited to the composite surface formed by the IL-2/IL-2Rbeta complex...
  6. Wiekmeijer A, Pike Overzet K, Ijspeert H, Brugman M, Wolvers Tettero I, Lankester A, et al. Identification of checkpoints in human T-cell development using severe combined immunodeficiency stem cells. J Allergy Clin Immunol. 2016;137:517-526.e3 pubmed publisher
    ..Arrests in T-cell development caused by mutations in IL-7 receptor α (IL7RA) and IL-2 receptor γ (IL2RG) were observed at the most immature thymocytes much earlier than expected based on gene expression profiling of ..
  7. Almarza E, Zhang F, Santilli G, Blundell M, Howe S, Thornhill S, et al. Correction of SCID-X1 using an enhancerless Vav promoter. Hum Gene Ther. 2011;22:263-70 pubmed publisher
    ..We have tested whether lentiviral vectors expressing the common cytokine receptor gamma chain under the control of the proximal Vav1 gene promoter are effective for correction of signaling ..
  8. Suzuki S, Iwamoto M, Hashimoto M, Suzuki M, Nakai M, Fuchimoto D, et al. Generation and characterization of RAG2 knockout pigs as animal model for severe combined immunodeficiency. Vet Immunol Immunopathol. 2016;178:37-49 pubmed publisher
    ..We showed more severe immunological defects in the RAG2 and IL2RG double-knockout pig through this study...
  9. Yu H, Zhang V, Stray Pedersen A, Hanson I, Forbes L, de la Morena M, et al. Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. J Allergy Clin Immunol. 2016;138:1142-1151.e2 pubmed publisher
    ..variants and exonic copy number variants, such as hemizygous nonsense, frameshift, and missense changes in IL2RG; compound heterozygous changes in ATM, RAG1, and CIITA; homozygous changes in DCLRE1C and IL7R; and a heterozygous ..
  10. Sato K, Oiwa R, Kumita W, Henry R, Sakuma T, Ito R, et al. Generation of a Nonhuman Primate Model of Severe Combined Immunodeficiency Using Highly Efficient Genome Editing. Cell Stem Cell. 2016;19:127-38 pubmed publisher
    ..and transcription activator-like effector nucleases (TALENs) to target interleukin-2 receptor subunit gamma (IL2RG) in pronuclear stage marmoset embryos...
  11. Dirice E, Walpita D, Vetere A, Meier B, Kahraman S, Hu J, et al. Inhibition of DYRK1A Stimulates Human β-Cell Proliferation. Diabetes. 2016;65:1660-71 pubmed publisher
    ..Furthermore, 5-IT promotes β-cell proliferation in human islets grafted under the kidney capsule of NOD-scid IL2Rg(null) mice...
  12. Erman B, Bilic I, Hirschmugl T, Salzer E, Boztug H, Sanal O, et al. Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing. Scand J Immunol. 2017;85:227-234 pubmed publisher
    ..diagnosis in six of 19 (33%) patients, including four novel disease-causing mutations identified in RAG1, JAK3 and IL2RG, respectively...
  13. Wilson E, Bial J, Tarlow B, Bial G, Jensen B, Greiner D, et al. Extensive double humanization of both liver and hematopoiesis in FRGN mice. Stem Cell Res. 2014;13:404-12 pubmed publisher
    ..Immune-deficient, fumarylacetoacetate hydrolase (Fah(-/-)), Rag2(-/-) and Il2rg(-/-) deficient animals on the NOD-strain background (FRGN) were simultaneously co-transplanted with adult human ..
  14. Piasecka Srader J, Blanco F, Delman D, Dixon D, Geiser J, Ciereszko R, et al. Tamoxifen prevents apoptosis and follicle loss from cyclophosphamide in cultured rat ovaries. Biol Reprod. 2015;92:132 pubmed publisher
    ..of lipoxygenase and prostaglandin production and signaling (Alox5, Pla2g1b, Ptgfr), cytokine binding (Il1r1, Il2rg ), apoptosis (Tnfrsf1a), second messenger signaling (Mapk1, Mapk14, Plcg1), as well as tissue remodeling and ..
  15. Tilib Shamoun S, Le Friec G, Spinner N, Kemper C, Baker A. Immune dysregulation in Alagille syndrome: A new feature of the evolving phenotype. Clin Res Hepatol Gastroenterol. 2015;39:566-9 pubmed publisher
    ..Resting TH1 cells from some patients exhibited high CD132 levels...
  16. Yang J, Wang Y, Zhou T, Wong L, Tian X, Hong X, et al. Generation of Human Liver Chimeric Mice with Hepatocytes from Familial Hypercholesterolemia Induced Pluripotent Stem Cells. Stem Cell Reports. 2017;8:605-618 pubmed publisher
    ..In addition, we engrafted FH iHeps into the liver of Ldlr-/-/Rag2-/-/Il2rg-/- mice, and assessed the effect of these same medications on LDL-C clearance and endothelium-dependent ..
  17. Yang J, Wong L, Tian X, Wei R, Lai W, Au K, et al. A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes. J Vis Exp. 2018;: pubmed publisher
    ..We used Ldlr-/-/Rag2-/-/Il2rg-/- (LRG) mice to avoid immune rejection of transplanted human cells and to assess the effect of LDLR-..
  18. Tonsing Carter E, Bailey B, Saadatzadeh M, Ding J, Wang H, Sinn A, et al. Potentiation of Carboplatin-Mediated DNA Damage by the Mdm2 Modulator Nutlin-3a in a Humanized Orthotopic Breast-to-Lung Metastatic Model. Mol Cancer Ther. 2015;14:2850-63 pubmed publisher
    ..In vivo efficacy studies were conducted in the TMD231 orthotopic mammary fat pad model in NOD.Cg-Prkdc(scid)Il2rg(tm1Wjl)/SzJ (NSG) mice...
  19. Rowson Hodel A, Manjarin R, Trott J, Cardiff R, Borowsky A, Hovey R. Neoplastic transformation of porcine mammary epithelial cells in vitro and tumor formation in vivo. BMC Cancer. 2015;15:562 pubmed publisher
    ..Cg-Prkdc (scid) Il2rg (tm1Wjl) /SzJ (NSG) mice. We demonstrated that lentivirus effectively transduces pMEC in vitro and in vivo...
  20. Puligujja P, Balkundi S, Kendrick L, Baldridge H, Hilaire J, Bade A, et al. Pharmacodynamics of long-acting folic acid-receptor targeted ritonavir-boosted atazanavir nanoformulations. Biomaterials. 2015;41:141-50 pubmed publisher
    ..Drug particles administered to human peripheral blood lymphocyte reconstituted NOD.Cg-Prkdc(scid)Il2rg(tm1Wjl)/SzJ mice and infected with HIV-1ADA led to ATV/r drug concentrations that paralleled FA receptor beta ..
  21. Min S, Kady J, Nam M, Rojas Rodriguez R, Berkenwald A, Kim J, et al. Human 'brite/beige' adipocytes develop from capillary networks, and their implantation improves metabolic homeostasis in mice. Nat Med. 2016;22:312-8 pubmed publisher
    ..When implanted into normal chow-fed, or into high-fat diet (HFD)-fed, glucose-intolerant NOD-scid IL2rg(null) (NSG) mice, brite/beige adipocytes activated in vitro enhance systemic glucose tolerance...
  22. Ou Z, Niu X, He W, Chen Y, Song B, Xian Y, et al. The Combination of CRISPR/Cas9 and iPSC Technologies in the Gene Therapy of Human ?-thalassemia in Mice. Sci Rep. 2016;6:32463 pubmed publisher
    ..iPSC-derived hematopoietic stem cells (HSCs) were injected into sublethally-irradiated NOD-scid-IL2Rg-/- (NSI) mice. HBB expression was observed in these HSCs after hematopoietic differentiation in the NSI mice...
  23. Netchiporouk E, Gantchev J, Tsang M, Thibault P, Watters A, Hughes J, et al. Analysis of CTCL cell lines reveals important differences between mycosis fungoides/Sézary syndrome vs. HTLV-1+ leukemic cell lines. Oncotarget. 2017;8:95981-95998 pubmed publisher
    ..Cg-Prkdcscid Il2rgtm1Wjl/SzJ mice...
  24. Kuijk E, Rasmussen S, Blokzijl F, Huch M, Gehart H, Toonen P, et al. Generation and characterization of rat liver stem cell lines and their engraftment in a rat model of liver failure. Sci Rep. 2016;6:22154 pubmed publisher
    ..Upon transplantation of clonal lines to a Fah(-/-) Il2rg(-/-) rat model of liver failure, the rat liver stem cells engrafted into the host liver where they differentiated ..
  25. Rodriguez G, Ross J, Nagy Z, Kirken R. Forskolin-inducible cAMP pathway negatively regulates T-cell proliferation by uncoupling the interleukin-2 receptor complex. J Biol Chem. 2013;288:7137-46 pubmed publisher
    ..Taken together, these findings suggest that Fsk activation of adenylate cyclase and PKA can negatively regulate IL-2 signaling at multiple levels that include IL-2R complex formation and Jak3/Stat5 activation. ..
  26. Domene H, Fierro Carrion G. Genetic disorders of GH action pathway. Growth Horm IGF Res. 2018;38:19-23 pubmed publisher
    ..by defects affecting the GH receptor (GHR), the intracellular GH signaling pathway (STAT5B, STAT3, IKBKB, IL2RG, PIK3R1), the synthesis of insulin-like growth factors (IGF1, IGF2), the transport/bioavailability of IGFs (IGFALS,..
  27. Bryce P, Falahati R, Kenney L, Leung J, Bebbington C, Tomasevic N, et al. Humanized mouse model of mast cell-mediated passive cutaneous anaphylaxis and passive systemic anaphylaxis. J Allergy Clin Immunol. 2016;138:769-779 pubmed publisher
    ..This model is based on the NOD-scid IL2rg(null)SCF/GM-CSF/IL3 (NSG-SGM3) strain of mice engrafted with human thymus, liver, and hematopoietic stem cells (..
  28. Mou W, He J, Chen X, Zhang H, Ren X, Wu X, et al. A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype. Immunogenetics. 2017;69:29-38 pubmed publisher
    ..Genetic analysis revealed a novel deletion at nucleotide 52 in exon 1 of IL2RG gene...
  29. Puck J, Pepper A, Bedard P, Laframboise R. Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency. J Clin Invest. 1995;95:895-9 pubmed
    The IL2RG gene encoding the gamma chain of the lymphocyte receptor for IL-2 lies in human Xq13.1 and is mutated in males with X-linked severe combined immunodeficiency (SCID)...
  30. Fernández L, Métais J, Escudero A, Vela M, Valentín J, Vallcorba I, et al. Memory T Cells Expressing an NKG2D-CAR Efficiently Target Osteosarcoma Cells. Clin Cancer Res. 2017;23:5824-5835 pubmed publisher
    ..For the in vivo orthotopic model, 531MII YFP-luc osteosarcoma cells were used as targets in NOD-scid IL2Rgnull mice...
  31. Tanaka N, Asao H, Ohbo K, Ishii N, Takeshita T, Nakamura M, et al. Physical association of JAK1 and JAK2 tyrosine kinases with the interleukin 2 receptor beta and gamma chains. Proc Natl Acad Sci U S A. 1994;91:7271-5 pubmed
    ..These results demonstrate that the JAK1 and JAK2 tyrosine kinases are physically associated with the beta chain and gamma chain, respectively, and suggest that regulation of the kinases may be linked to IL-2-induced signal transduction. ..
  32. de Jong J, Farner N, Widmer M, Giri J, Sondel P. Interaction of IL-15 with the shared IL-2 receptor beta and gamma c subunits. The IL-15/beta/gamma c receptor-ligand complex is less stable than the IL-2/beta/gamma c receptor-ligand complex. J Immunol. 1996;156:1339-48 pubmed
    ..This result was identical for both surface-iodinated YT cells and immunoprecipitates that were probed for IL-2R beta and IL-2R gamma c on Western blots. ..
  33. Recher M, Berglund L, Avery D, Cowan M, Gennery A, Smart J, et al. IL-21 is the primary common ? chain-binding cytokine required for human B-cell differentiation in vivo. Blood. 2011;118:6824-35 pubmed publisher
    SCID resulting from mutations in IL2RG or JAK3 is characterized by lack of T and natural killer cells; B cells are present in normal number, but antibody responses are defective...
  34. Ghazaryan H, Petrek M, Boyajyan A. Chronic schizophrenia is associated with over-expression of the interleukin-2 receptor gamma gene. Psychiatry Res. 2014;217:158-62 pubmed publisher
    ..The aim of this study was to investigate mRNA expression of the IL2RG gene (IL2RG) in schizophrenia patients in comparison with healthy subjects (controls)...
  35. Ebbing E, Steins A, Fessler E, Stathi P, Lesterhuis W, Krishnadath K, et al. Esophageal Adenocarcinoma Cells and Xenograft Tumors Exposed to Erb-b2 Receptor Tyrosine Kinase 2 and 3 Inhibitors Activate Transforming Growth Factor Beta Signaling, Which Induces Epithelial to Mesenchymal Transition. Gastroenterology. 2017;153:63-76.e14 pubmed publisher
    ..NOD.Cg-PrkdcscidIl2rgtm1Wjl/SzJ (NSG) mice were given subcutaneous injections of AMC-EAC-007B cells and also given injections ..
  36. Bani L, David D, Fevrier M, Pialoux G, Dupont B, Sugamura K, et al. Interleukin-2 receptor beta and gamma chain dysregulation during the inhibition of CD4 T cell activation by human immunodeficiency virus-1 gp120. Eur J Immunol. 1997;27:2188-94 pubmed
    ..This is the first study of IL-2R beta and IL-2R gamma dysregulation in the context of HIV infection and shows that CD4 is also involved in IL-2R expression. ..
  37. Fanos J, Davis J, Puck J. Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency. Am J Med Genet. 2001;98:46-56 pubmed
    ..Mapping of XSCID in 1985 and identification of the disease gene, IL2RG, in 1993 made possible patient and carrier diagnosis...
  38. Holsinger L, Ward K, Duffield B, Zachwieja J, Jallal B. The transmembrane receptor protein tyrosine phosphatase DEP1 interacts with p120(ctn). Oncogene. 2002;21:7067-76 pubmed
    ..p120(ctn) was found to colocalize with these structures. Together these data suggest an important role for DEP-1 in the function of cell-cell contacts and adherens junctions. ..
  39. Rahmig S, Kronstein Wiedemann R, Fohgrub J, Kronstein N, Nevmerzhitskaya A, Bornhauser M, et al. Improved Human Erythropoiesis and Platelet Formation in Humanized NSGW41 Mice. Stem Cell Reports. 2016;7:591-601 pubmed publisher
    ..Here we show that stably engrafted KIT-deficient NOD/SCID Il2rg-/-KitW41/W41 (NSGW41) mice support much improved human erythropoiesis and platelet formation ..
  40. Jones A, Clark P, Katz F, Genet S, McMahon C, Alterman L, et al. B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation. Hum Genet. 1997;99:677-80 pubmed
    ..Approximately 40% of cases are thought to be of the X-linked type (SCIDX1), which is phenotypically characterised by the absence, or very low numbers, of T cells, but normal or even high B ..
  41. Neubert J, Meindl A, Theisen A, Adams O, Schulz A, Feyen O, et al. A novel mutation in the interleukin-2 receptor gamma gene as the cause of lymphopenia in a neonate vertically exposed to human immunodeficiency virus. Pediatr Infect Dis J. 2005;24:187-9 pubmed
    ..In this context, we report a unique case of X-linked severe combined immunodeficiency in a neonate vertically exposed to HIV. ..
  42. Zhang Q, Wang H, Liu X, Bhutani G, Kantekure K, Wasik M. IL-2R common gamma-chain is epigenetically silenced by nucleophosphin-anaplastic lymphoma kinase (NPM-ALK) and acts as a tumor suppressor by targeting NPM-ALK. Proc Natl Acad Sci U S A. 2011;108:11977-82 pubmed publisher
    ..These results demonstrate that the oncogenic tyrosine kinase NPM-ALK induces epigenetic silencing of the IL-2R? gene and that IL-2R? acts as a tumor suppressor by reciprocally inhibiting expression of NPM-ALK. ..
  43. Kuijpers T, Baars P, Aan de Kerk D, Jansen M, Derks I, Bredius R, et al. A novel mutation in CD132 causes X-CID with defective T-cell activation and impaired humoral reactivity. J Allergy Clin Immunol. 2011;128:1360-1363.e4 pubmed publisher
  44. Selliah N, Finkel T. Cutting edge: JAK3 activation and rescue of T cells from HIV gp120-induced unresponsiveness. J Immunol. 1998;160:5697-701 pubmed
    ..In addition, rescue from gp120-mediated T cell unresponsiveness by activation of JAK3 suggests a novel therapeutic approach for enhancing immune function in HIV disease. ..
  45. Letzelter F, Wang Y, Sebald W. The interleukin-4 site-2 epitope determining binding of the common receptor gamma chain. Eur J Biochem. 1998;257:11-20 pubmed
    ..This site-2 affinity seems to be sufficient, however, to promote, in a second step, a productive association of gamma(c) to an IL-4/alpha chain complex in the membrane. ..
  46. Pham K, Delitto D, Knowlton A, Hartlage E, Madhavan R, Gonzalo D, et al. Isolation of Pancreatic Cancer Cells from a Patient-Derived Xenograft Model Allows for Practical Expansion and Preserved Heterogeneity in Culture. Am J Pathol. 2016;186:1537-46 pubmed publisher
    ..Cg-Prkdc(scid)Il2rg(tm1Wjl)/SzJ mice...
  47. Chattopadhyay S, Bhattacharyya S, Saha B, Chakraborty J, Mohanty S, Sakib Hossain D, et al. Tumor-shed PGE(2) impairs IL2Rgammac-signaling to inhibit CD4 T cell survival: regulation by theaflavins. PLoS ONE. 2009;4:e7382 pubmed publisher
    ..or celecoxib-pre-treated MCF-7 cells, we show that tumor-shed PGE2 severely impairs interleukin 2 receptor gammac (IL2Rgammac)-mediated survival signaling in CD4+ T cells...
  48. Radtke S, Haworth K, Kiem H. The frequency of multipotent CD133(+)CD45RA(-)CD34(+) hematopoietic stem cells is not increased in fetal liver compared with adult stem cell sources. Exp Hematol. 2016;44:502-7 pubmed publisher
    ..We noted that engraftment in NSG (NOD scid gamma [NOD.Cg-Prkdc(scid) Il2rg(tm1Wjl)/SzJ]) mice was driven mostly by LMPPs, confirming recent findings that repopulation in mice is not a ..
  49. Ishii N, Asao H, Kimura Y, Takeshita T, Nakamura M, Tsuchiya S, et al. Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency. J Immunol. 1994;153:1310-7 pubmed
    ..These findings indicate that the gamma-chain gene mutations that accompany XSCID induce loss of the gamma-chain function, possibly resulting in stagnation of the differentiation and development of T cells. ..
  50. Nata T, Basheer A, Cocchi F, van Besien R, Massoud R, Jacobson S, et al. Targeting the binding interface on a shared receptor subunit of a cytokine family enables the inhibition of multiple member cytokines with selectable target spectrum. J Biol Chem. 2015;290:22338-51 pubmed publisher
    ..Collectively, our technology can be expanded to target various combinations of γc-cytokines and thereby will provide a novel strategy to the current anti-cytokine therapies against immune, inflammatory, and malignant diseases. ..
  51. Abdallah B, Al Shammary A, Skagen P, Abu Dawud R, Adjaye J, Aldahmash A, et al. CD34 defines an osteoprogenitor cell population in mouse bone marrow stromal cells. Stem Cell Res. 2015;15:449-458 pubmed publisher
    ..Among these, we identified osteoprogenitor-associated CD markers expressed only in mBMSC(Bone): CD34, CD54, CD73, CD132, CD200, CD227 and adipoprogenitor-associated CD markers expressed only in mBMSC(Adipo): CD53, CD80, CD134, CD141 ..
  52. Wang K, Mei D, Liu Q, Qiao X, Ruan W, Huang T, et al. Research of methods to detect genomic mutations induced by CRISPR/Cas systems. J Biotechnol. 2015;214:128-32 pubmed publisher
    ..Using the newly discovered RNA-guided CRISPR/Cas systems, the IL2RG and EMX1 genes were edited in the human 293T cell line in order to compare the mutation detection accuracies of ..
  53. Chen P, Huang Y, Womer K. Effects of mesenchymal stromal cells on human myeloid dendritic cell differentiation and maturation in a humanized mouse model. J Immunol Methods. 2015;427:100-4 pubmed publisher
    ..Humanized mice were established by injection of cord blood CD34(+) cells into NOD.Cg-Prkdc(scid) Il2rg(tm1Wjl/SzJ) (NOD scid gamma, NSG) mice...
  54. Ehrentraut S, Schneider B, Nagel S, Pommerenke C, Quentmeier H, Geffers R, et al. Th17 cytokine differentiation and loss of plasticity after SOCS1 inactivation in a cutaneous T-cell lymphoma. Oncotarget. 2016;7:34201-16 pubmed publisher
    ..Th17 conversion of MAC-1 cells by IL-2 was blocked by pharmacological inhibition of JAK3 or STAT5, implicating IL2RG - JAK3 - STAT5 signaling in plasticity responses...
  55. Ito R, Katano I, Kawai K, Yagoto M, Takahashi T, Ka Y, et al. A Novel Xenogeneic Graft-Versus-Host Disease Model for Investigating the Pathological Role of Human CD4+ or CD8+ T Cells Using Immunodeficient NOG Mice. Am J Transplant. 2017;17:1216-1228 pubmed publisher
    ..T cells were purified from peripheral blood and were transplanted into immunodeficient NOD/Shi-scid IL2rgnull (NOG) mice...
  56. Luque Y, Cathelin D, Vandermeersch S, Xu X, Sohier J, Placier S, et al. Glomerular common gamma chain confers B- and T-cell-independent protection against glomerulonephritis. Kidney Int. 2017;91:1146-1158 pubmed publisher
    ..Anti-GBM-GN was induced in three strains of immune-deficient mice (Rag2-/-, Rag2-/-Il2rg-/-, and Rag2-/-Il2rb-/-) that are devoid of either T/B cells or T/B/NK cells...
  57. Lin M, Park S, Hayden A, Giustini D, Trinkaus M, Pudek M, et al. Clinical utility of soluble interleukin-2 receptor in hemophagocytic syndromes: a systematic scoping review. Ann Hematol. 2017;96:1241-1251 pubmed publisher
    ..More emphasis should be made in including this simple, inexpensive test in clinical practice and studies of HPS/HLH. ..
  58. Miyazaki T, Kawahara A, Fujii H, Nakagawa Y, Minami Y, Liu Z, et al. Functional activation of Jak1 and Jak3 by selective association with IL-2 receptor subunits. Science. 1994;266:1045-7 pubmed
    ..Furthermore, Jak3-negative fibroblasts expressing reconstituted IL-2R became responsive to IL-2 after the additional expression of Jak3 complementary DNA. Thus, activation of Jak1 and Jak3 may be a key event in IL-2 signaling. ..
  59. Markiewicz S, Subtil A, Dautry Varsat A, Fischer A, de Saint Basile G. Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing. Genomics. 1994;21:291-3 pubmed
  60. Noguchi M, Sarin A, Aman M, Nakajima H, Shores E, Henkart P, et al. Functional cleavage of the common cytokine receptor gamma chain (gammac) by calpain. Proc Natl Acad Sci U S A. 1997;94:11534-9 pubmed
    ..a calcium-dependent cysteine protease, was found to interact with the cytoplasmic domain of the common cytokine receptor gamma chain (gammac) in a yeast two-hybrid interaction trap assay...
  61. Seki Y, Hayashi K, Matsumoto A, Seki N, Tsukada J, Ransom J, et al. Expression of the suppressor of cytokine signaling-5 (SOCS5) negatively regulates IL-4-dependent STAT6 activation and Th2 differentiation. Proc Natl Acad Sci U S A. 2002;99:13003-8 pubmed
    ..Therefore, the induced SOCS5 protein in Th1 differentiation environment may play an important role by regulating Th1 and Th2 balance. ..
  62. Adriani M, Garbi C, Amodio G, Russo I, Giovannini M, Amorosi S, et al. Functional interaction of common gamma-chain and growth hormone receptor signaling apparatus. J Immunol. 2006;177:6889-95 pubmed
    ..In the present study, we examined a potential role of common cytokine receptor gamma-chain (gammac) in GHR signaling using EBV-transformed lymphocytes from healthy subjects and gammac-negative X-SCID patients...
  63. Alsina L, Gonzalez Roca E, Giner M, Piquer M, Puga I, Pascal M, et al. Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family. J Allergy Clin Immunol. 2013;132:741-743.e2 pubmed publisher
  64. Bai Q, Liu N, Kong X, Xu X, Zhao Z. Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2Rγ gene novel mutation. Genet Mol Res. 2015;14:6164-72 pubmed publisher
    ..In couples with an X-SCID reproductive history, prenatal gene mutation analysis of IL2Rγ can effectively prevent the birth of children with X-SCID and carrier detection for suspected females. ..
  65. Okuno Y, Hoshino A, Muramatsu H, Kawashima N, Wang X, Yoshida K, et al. Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism. J Clin Immunol. 2015;35:610-4 pubmed publisher
    ..Whole-exome sequencing analysis identified an IL2RG p.P58T missense mutation. CD8(+) and CD56(+) cells showed revertant somatic mosaicism to the wild-type allele...
  66. Tan W, Yu S, Lei J, Wu B, Wu C. A novel common gamma chain mutation in a Chinese family with X-linked severe combined immunodeficiency (X-SCID; T(-)NK(-)B(+)). Immunogenetics. 2015;67:629-39 pubmed publisher
    ..Genomic DNA sequencing revealed that the patient had missense mutations in the IL2RG (exon 5, 718 T > C) and IL7R genes (exon 2, 197 T > C; exon 4, 412G > A)...
  67. Wang Y, Wang K, Dang N, Wang L, Zhang M. Downregulation of miR-3940-5p promotes T-cell activity by targeting the cytokine receptor IL-2R gamma on human cutaneous T-cell lines. Immunobiology. 2016;221:1378-1381 pubmed publisher
    ..According to the research findings, we hypothesized that the novel miRNA plays a potential role on human cutaneous T lymphocytes in the action mechanism of immune imbalance in vitiligo. ..
  68. Erkers T, Solders M, Verleng L, Bergström C, Stikvoort A, Rane L, et al. Frontline Science: Placenta-derived decidual stromal cells alter IL-2R expression and signaling in alloantigen-activated T cells. J Leukoc Biol. 2017;101:623-632 pubmed publisher
    ..increased by DSCs, whereas the frequency and intensity of expression of the signaling subunits CD122 (IL-2R?) and CD132 (IL-2R?c) were reduced. Consequently, uptake of IL-2 and STAT5 phosphorylation (pSTAT5) was abrogated...
  69. Donnenberg V, Huber A, Basse P, Rubin J, Donnenberg A. Neither epithelial nor mesenchymal circulating tumor cells isolated from breast cancer patients are tumorigenic in NOD-scid Il2rgnull mice. NPJ Breast Cancer. 2016;2:16004 pubmed publisher
    ..Cells were injected into the mammary fat pads of NOD-scid Il2rgnull mice. The injection of very large numbers of CTCs (0.3-1...
  70. Dusséaux M, Masse Ranson G, Darche S, Ahodantin J, Li Y, Fiquet O, et al. Viral Load Affects the Immune Response to HBV in Mice With Humanized Immune System and Liver. Gastroenterology. 2017;153:1647-1661.e9 pubmed publisher
    ..We performed studies with BALB/c Rag2-/-Il2rg-/-SirpaNODAlb-uPAtg/tg mice, stably engrafted with human hepatocytes (HUHEP) with ..
  71. Hara H, Shibata H, Nakano K, Abe T, Uosaki H, Ohnuki T, et al. Production and rearing of germ-free X-SCID pigs. Exp Anim. 2018;67:139-146 pubmed publisher
    ..severe combined immunodeficiency (X-SCID) caused by a mutation of the interleukin-2 receptor gamma chain gene (IL2RG) are of value for a wide range of studies...
  72. DiSanto J, Dautry Varsat A, Certain S, Fischer A, de Saint Basile G. Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding. Eur J Immunol. 1994;24:475-9 pubmed
    ..Mutations in the IL-2R gamma chain-encoding gene have been found in SCIDX1, a primary immunodeficiency characterized by the absence of T cell and NK cell development...
  73. Noguchi M, Adelstein S, Cao X, Leonard W. Characterization of the human interleukin-2 receptor gamma chain gene. J Biol Chem. 1993;268:13601-8 pubmed
    ..With this study, the organization of the genes encoding all three chains (alpha, beta, and gamma) of the IL-2 receptor has been determined and promoters for each identified. ..
  74. Ravichandran K, Igras V, Shoelson S, Fesik S, Burakoff S. Evidence for a role for the phosphotyrosine-binding domain of Shc in interleukin 2 signaling. Proc Natl Acad Sci U S A. 1996;93:5275-80 pubmed
    ..Taken together, our in vivo and in vitro observations suggest that the PTB domain of Shc interacts with Y338 of the IL-2R and provide evidence for a functional role for the Shc-PTB domain in IL-2 signaling. ..
  75. Eckenberg R, Rose T, Moreau J, Weil R, Gesbert F, Dubois S, et al. The first alpha helix of interleukin (IL)-2 folds as a homotetramer, acts as an agonist of the IL-2 receptor beta chain, and induces lymphokine-activated killer cells. J Exp Med. 2000;191:529-40 pubmed
    ..Altogether, our data suggest that p1-30 has therapeutic potential...
  76. Asao H, Okuyama C, Kumaki S, Ishii N, Tsuchiya S, Foster D, et al. Cutting edge: the common gamma-chain is an indispensable subunit of the IL-21 receptor complex. J Immunol. 2001;167:1-5 pubmed
    ..The chemical cross-linking study reveals the direct binding of IL-21 to the gamma(c). These data clearly demonstrate that the gamma(c) is an indispensable subunit of the functional IL-21R complex. ..
  77. Bani L, Pasquier V, Kryworuchko M, Salamero J, Theze J. Unstimulated human CD4 lymphocytes express a cytoplasmic immature form of the common cytokine receptor gamma-chain. J Immunol. 2001;167:344-9 pubmed
    ..Furthermore, this supports the notion that expression of the functional form of gamma(c) may require intracellular interactions with lineage- or subset-specific molecular partners. ..
  78. Lindholm C. IL-2 receptor signaling through the Shb adapter protein in T and NK cells. Biochem Biophys Res Commun. 2002;296:929-36 pubmed
    ..In conclusion, Shb links the IL-2 receptor to other signaling proteins and mediates the regulation of apoptosis in the presence of IL-2. ..
  79. Sogo T, Kawahara M, Tsumoto K, Kumagai I, Ueda H, Nagamune T. Selective expansion of genetically modified T cells using an antibody/interleukin-2 receptor chimera. J Immunol Methods. 2008;337:16-23 pubmed publisher
    ..These results clearly demonstrate that the antibody/IL-2R chimeras could substantially mimic the wild-type IL-2R signaling, suggesting the potential application in expansion of gene-modified T cells. ..
  80. Ameratunga R, Woon S. Customised molecular diagnosis of primary immune deficiency disorders in New Zealand: an efficient strategy for a small developed country. N Z Med J. 2009;122:46-53 pubmed
    ..Family studies have been undertaken after genetic counselling. Customised genetic testing is a cost-effective and efficient method for PID diagnosis in a small developed country. ..
  81. Orr S, Roessler S, Quigley L, Chan T, Ford J, O Connor G, et al. Implications for gene therapy-limiting expression of IL-2R gamma c delineate differences in signaling thresholds required for lymphocyte development and maintenance. J Immunol. 2010;185:1393-403 pubmed publisher
    ..Further, our findings suggest that IL-2Rgamma(c) reconstituted T cells may persist more efficiently than NK cells due to compensation for suboptimal IL-2Rgamma(c) signaling by the TCR...
  82. Vigliano I, Palamaro L, Bianchino G, Fusco A, Vitiello L, Grieco V, et al. Role of the common ? chain in cell cycle progression of human malignant cell lines. Int Immunol. 2012;24:159-67 pubmed publisher
  83. Nanni P, Nicoletti G, Palladini A, Croci S, Murgo A, Ianzano M, et al. Multiorgan metastasis of human HER-2+ breast cancer in Rag2-/-;Il2rg-/- mice and treatment with PI3K inhibitor. PLoS ONE. 2012;7:e39626 pubmed publisher
    ..We describe a model system based on a highly immunodeficient double knockout mouse, Rag2-/-;Il2rg-/-, which lacks T, B and NK cell activity...
  84. Kuijpers T, van Leeuwen E, Barendregt B, Klarenbeek P, Aan de Kerk D, Baars P, et al. A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells. Haematologica. 2013;98:1030-8 pubmed publisher
    Mutations in the common gamma chain (?c, CD132, encoded by the IL2RG gene) can lead to B(+)T(-)NK(-) X-linked severe combined immunodeficiency, as a consequence of unresponsiveness to ?c-cytokines such as interleukins-2, -7 and -15...
  85. Richard E, Grellety T, Velasco V, MacGrogan G, Bonnefoi H, Iggo R. The mammary ducts create a favourable microenvironment for xenografting of luminal and molecular apocrine breast tumours. J Pathol. 2016;240:256-261 pubmed publisher
    ..with a lentiviral vector expressing tdTomato and injected through the nipple into the mammary ducts of NOD-SCID-IL2RG-/- mice...
  86. Schiroli G, Ferrari S, Conway A, Jacob A, Capo V, Albano L, et al. Preclinical modeling highlights the therapeutic potential of hematopoietic stem cell gene editing for correction of SCID-X1. Sci Transl Med. 2017;9: pubmed publisher
    ..We then designed a one-size-fits-all IL2RG (interleukin-2 receptor common ?-chain) gene correction strategy and, using the same reagents suitable for ..
  87. Schmalstieg F, Leonard W, Noguchi M, Berg M, Rudloff H, Denney R, et al. Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. J Clin Invest. 1995;95:1169-73 pubmed
    ..Therefore, this point mutation in the gamma c gene leads to a less severe degree of deficiency in cellular and humoral immunity than that seen in XSCID. ..
  88. Cao X, Kozak C, Liu Y, Noguchi M, O Connell E, Leonard W. Characterization of cDNAs encoding the murine interleukin 2 receptor (IL-2R) gamma chain: chromosomal mapping and tissue specificity of IL-2R gamma chain expression. Proc Natl Acad Sci U S A. 1993;90:8464-8 pubmed
    ..Finally, we have localized the murine IL-2R gamma gene, Il2rg, to the X chromosome between Rsvp and Plp and demonstrated that a defect in IL-2R gamma is not responsible for the ..
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    ..Early clinical recognition of this phenotype is critical as a delay in diagnosis may result in a fatal infection. ..
  90. Kleiman S, Pastan I, Puck J, Gottesman M. Characterization of an MDR1 retroviral bicistronic vector for correction of X-linked severe combined immunodeficiency. Gene Ther. 1998;5:671-6 pubmed
    ..The disease is caused by mutations in IL2RG, the gene encoding the interleukin-2 receptor common gamma chain (gamma c) shared by several interleukin receptors...
  91. Matko J, Bodnar A, Vereb G, Bene L, Vámosi G, Szentesi G, et al. GPI-microdomains (membrane rafts) and signaling of the multi-chain interleukin-2 receptor in human lymphoma/leukemia T cell lines. Eur J Biochem. 2002;269:1199-208 pubmed
    ..g. CD48). Based on these data, the integrity of these GPI-microdomains seems critical in signal transduction through the IL-2R complex. ..
  92. Lundin K, Tuukkanen A, Jansson C, Nordström T, Lindqvist C. No soluble common cytokine receptor gamma chain (gamma(c)) in activated human lymphocyte cultures-comparison with soluble IL-2Ralpha. Immunol Lett. 2002;82:235-40 pubmed
    The presence of a soluble form of the common cytokine receptor gamma chain (gamma(c)) in cell free supernatants from unstimulated and 1-6 days PHA stimulated peripheral blood lymphocyte (PBL) cultures was analyzed using a sandwich ELISA...