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Select item 87745911.

Somatic Reversion of a Novel IL2RG Mutation Resulting in Atypical X-Linked Combined Immunodeficiency

Yujuan Hou, Hans Peter Gratz, Guillermo Ureña-Bailén, Paul G. Gratz, Karin Schilbach-Stückle, Tina Renno, Derya Güngör, Daniel A. Mader, Elke Malenke, Justin S. Antony, Rupert Handgretinger, Markus Mezger

Genes (Basel) 2022 Jan; 13(1): 35. Published online 2021 Dec 23. doi: 10.3390/genes13010035

PMCID:: PMC8774591

Article PDF–3.2M

Select item 80937672.

Case Report: A Novel IL2RG Frame-Restoring Rescue Mutation Mimics Early T Cell Engraftment Following Haploidentical Hematopoietic Stem Cell Transplantation in a Patient With X-SCID

Jolanda Steininger, Alexander Leiss-Piller, Christoph B. Geier, Raphael Rossmanith, Reem Elfeky, David Bra, Herbert Pichler, Anita Lawitschka, Natascha Zubarovskaya, Gottfried Artacker, Susanne Matthes-Leodolter, Martha M. Eibl, Hermann M. Wolf

Front Immunol. 2021; 12: 644687. Published online 2021 Apr 20. doi: 10.3389/fimmu.2021.644687

PMCID:: PMC8093767

Article PDF–3.6M

Select item 71420523.

Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency

Elina A. Tuovinen, Juha Grönholm, Tiina Öhman, Sakari Pöysti, Raine Toivonen, Anna Kreutzman, Kaarina Heiskanen, Luca Trotta, Sanna Toiviainen-Salo, John M. Routes, James Verbsky, Satu Mustjoki, Janna Saarela, Juha Kere, Markku Varjosalo, Arno Hänninen, Mikko R. J. Seppänen

J Clin Immunol. 2020; 40(3): 503–514. Published online 2020 Feb 19. doi: 10.1007/s10875-020-00745-2

PMCID:: PMC7142052

Article PDF–1.7M

Select item 70663874.

The IL‐2RG R328X nonsense mutation allows partial STAT‐5 phosphorylation and defines a critical region involved in the leaky‐SCID phenotype

A. Arcas‐García, M. Garcia‐Prat, M. Magallón‐Lorenz, A. Martín‐Nalda, O. Drechsel, S. Ossowski, L. Alonso, J. G. Rivière, P. Soler‐Palacín, R. Colobran, J. Sayós, M. Martínez‐Gallo, C. Franco‐Jarava

Clin Exp Immunol. 2020 Apr; 200(1): 61–72. Published online 2020 Jan 19. doi: 10.1111/cei.13405

PMCID:: PMC7066387

Article PDF–730K

Select item 63152995.

The common γ-chain cytokine receptor: Tricks-and-Treats for T cells

Adam T. Waickman, Joo-Young Park, Jung-Hyun Park

Cell Mol Life Sci. Author manuscript; available in PMC 2019 Jan 3.

Published in final edited form as: Cell Mol Life Sci. 2016 Jan; 73(2): 253–269. Published online 2015 Oct 14. doi: 10.1007/s00018-015-2062-4

PMCID:: PMC6315299

Article PDF–785K

Select item 45662116.

Targeting the Binding Interface on a Shared Receptor Subunit of a Cytokine Family Enables the Inhibition of Multiple Member Cytokines with Selectable Target Spectrum

Toshie Nata, Asjad Basheer, Fiorenza Cocchi, Richard van Besien, Raya Massoud, Steven Jacobson, Nazli Azimi, Yutaka Tagaya

J Biol Chem. 2015 Sep 11; 290(37): 22338–22351. Published online 2015 Jul 16. doi: 10.1074/jbc.M115.661074

PMCID:: PMC4566211

Article PDF–3.2M

Select item 45047777.

IL2RG Reversion Event in a Common Lymphoid Progenitor Leads to Delayed Diagnosis and Milder Phenotype

Amy P. Hsu, Stefania Pittaluga, Bianca Martinez, Amy P. Rump, Mark Raffeld, Gulbu Uzel, Jennifer M. Puck, Alexandra F. Freeman, Steven M. Holland

J Clin Immunol. Author manuscript; available in PMC 2016 Jul 1.

Published in final edited form as: J Clin Immunol. 2015 Jul; 35(5): 449–453. Published online 2015 Jun 17. doi: 10.1007/s10875-015-0174-0

PMCID:: PMC4504777

Article PDF–989K

Select item 40523778.

Human Lymphoid Development in the Absence of Common Gamma Chain Receptor Signaling

Lisa A. Kohn, Christopher S. Seet, Jessica Scholes, Felicia Codrea, Rebecca Chan, Sania Zaidi-Merchant, Yuhua Zhu, Satiro De Oliveira, Neena Kapoor, Ami Shah, Hisham Abdel-Azim, Donald B. Kohn, Gay M. Crooks

J Immunol. Author manuscript; available in PMC 2015 Jun 1.

Published in final edited form as: J Immunol. 2014 Jun 1; 192(11): 5050–5058. Published online 2014 Apr 25. doi: 10.4049/jimmunol.1303496

PMCID:: PMC4052377

Article PDF–882K

Select item 36966059.

A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8⁺ T cells

Taco W. Kuijpers, Ester M.M. van Leeuwen, Barbara H. Barendregt, Paul Klarenbeek, Daan J. aan de Kerk, Paul A. Baars, Machiel H. Jansen, Niek de Vries, René A.W. van Lier, Mirjam van der Burg

Haematologica. 2013 Jul; 98(7): 1030–1038. doi: 10.3324/haematol.2012.077511

PMCID:: PMC3696605

Article PDF–1.5M

Select item 314198210.

IL-2R common γ-chain is epigenetically silenced by nucleophosphin–anaplastic lymphoma kinase (NPM-ALK) and acts as a tumor suppressor by targeting NPM-ALK

Qian Zhang, Hong Yi Wang, Xiaobin Liu, Gauri Bhutani, Kanchan Kantekure, Mariusz Wasik

Proc Natl Acad Sci U S A. 2011 Jul 19; 108(29): 11977–11982. Published online 2011 Jun 29. doi: 10.1073/pnas.1100319108

PMCID:: PMC3141982

Article PDF–932K

Select item 180127711.

Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.

A E Pepper, R H Buckley, T N Small, J M Puck

Am J Hum Genet. 1995 Sep; 57(3): 564–571.

PMCID:: PMC1801277

Summary Page Browse PDF–1.4M

Select item 50851612.

An interleukin-2 receptor gamma chain mutation with normal thymus morphology.

N Sharfe, M Shahar, C M Roifman

J Clin Invest. 1997 Dec 15; 100(12): 3036–3043. doi: 10.1172/JCI119858

PMCID:: PMC508516

Summary PDF–524K

Select item 44145413.

Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency.

F C Schmalstieg, W J Leonard, M Noguchi, M Berg, H E Rudloff, R M Denney, S K Dave, E G Brooks, A S Goldman

J Clin Invest. 1995 Mar; 95(3): 1169–1173. doi: 10.1172/JCI117765

PMCID:: PMC441454

Summary Page Browse PDF–1.2M

Select item 29558014.

Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.

J M Puck, A E Pepper, P M Bédard, R Laframboise

J Clin Invest. 1995 Feb; 95(2): 895–899. doi: 10.1172/JCI117740

PMCID:: PMC295580

Summary Page Browse PDF–1.0M

Select item 23100515.

A membrane-proximal region of the interleukin-2 receptor gamma c chain sufficient for Jak kinase activation and induction of proliferation in T cells.

B H Nelson, J D Lord, P D Greenberg

Mol Cell Biol. 1996 Jan; 16(1): 309–317. doi: 10.1128/mcb.16.1.309

PMCID:: PMC231005

Summary PDF–463K

Select item 4483316.

Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells.

J P DiSanto, F Rieux-Laucat, A Dautry-Varsat, A Fischer, G de Saint Basile

Proc Natl Acad Sci U S A. 1994 Sep 27; 91(20): 9466–9470. doi: 10.1073/pnas.91.20.9466

PMCID:: PMC44833

Summary Page Browse PDF–1.2M

Select item 637588517.

Specific Inhibition of Soluble γc Receptor Attenuates Collagen-Induced Arthritis by Modulating the Inflammatory T Cell Responses

Byunghyuk Lee, Yuna Jo, Geona Kim, Laraib Amir Ali, Dong Hyun Sohn, Seung-Geun Lee, Kiseok Kim, Euisu Shin, Sung Ho Ryu, Changwan Hong

Front Immunol. 2019; 10: 209. Published online 2019 Feb 8. doi: 10.3389/fimmu.2019.00209

PMCID:: PMC6375885

Article PDF–6.4M

Select item 562206818.

Targeted genome editing restores T cell differentiation in a humanized X-SCID pluripotent stem cell disease model

Jamal Alzubi, Celeste Pallant, Claudio Mussolino, Steven J. Howe, Adrian J. Thrasher, Toni Cathomen

Sci Rep. 2017; 7: 12475. Published online 2017 Sep 29. doi: 10.1038/s41598-017-12750-4

PMCID:: PMC5622068

Article PDF–3.4M

Select item 487322419.

Quantitative Contribution of IL2Rγ to the Dynamic Formation of IL2-IL2R Complexes

Luis F. Ponce, Karina García-Martínez, Kalet León

PLoS One. 2016; 11(5): e0155684. Published online 2016 May 19. doi: 10.1371/journal.pone.0155684

PMCID:: PMC4873224

Article PDF–3.3M

Select item 432438920.

Functional RNAi screen targeting cytokine and growth factor receptors reveals oncorequisite role for interleukin-2 gamma receptor in JAK3 mutation-positive leukemia

Anupriya Agarwal, Ryan J. MacKenzie, Christopher A. Eide, Monika A. Davare, Kevin Watanabe-Smith, Cristina E. Tognon, Solange Mongoue-Tchokote, Byung Park, Rita M. Braziel, Jeffrey W. Tyner, Brian J. Druker

Oncogene. Author manuscript; available in PMC 2015 Dec 4.

Published in final edited form as: Oncogene. 2015 Jun 4; 34(23): 2991–2999. Published online 2014 Aug 11. doi: 10.1038/onc.2014.243