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32 results for Severe+Combined+Immunodeficiency+-+metabolism

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ArticlesPeer ReviewedFull Text
Evidence of innate lymphoid cell redundancy in humans
Author / Creator:Vély, Frédéric ; Barlogis, Vincent ; Vallentin, Blandine ; Neven, Bénédicte ; Piperoglou, Christelle ; Ebbo, Mikael ; Perchet, Thibaut ; Petit, Maxime ; Yessaad, Nadia ; Touzot, Fabien ; Bruneau, Julie ; Mahlaoui, Nizar ; Zucchini, Nicolas ; Farnarier, Catherine ; Michel, Gérard ; Moshous, Despina ; Blanche, Stéphane ; Dujardin, Arnaud ; Spits, Hergen ; Distler, Jörg H W ; Ramming, Andreas ; Picard, Capucine ; Golub, Rachel ; Fischer, Alain ; Vivier, Eric
Publisher:New York: Nature Publishing Group US
Journal title:Nature immunology, 2016-11, Vol.17 (11), p.1291-1299
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New insights into the regulation of T cells by gamma(c) family cytokines
Author / Creator:Rochman, Yrina ; Spolski, Rosanne ; Leonard, Warren J
Publisher:England
Journal title:Nature reviews. Immunology, 2009-07, Vol.9 (7), p.480-490
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ArticlesPeer ReviewedFull Text
Gene therapy for inborn errors of immunity: past, present and future
Author / Creator:Fischer, Alain
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Immunology, 2023-06, Vol.23 (6), p.397-408
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A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function
Author / Creator:Feske, Stefan ; Gwack, Yousang ; Prakriya, Murali ; Srikanth, Sonal ; Puppel, Sven-Holger ; Tanasa, Bogdan ; Hogan, Patrick G. ; Lewis, Richard S. ; Daly, Mark ; Rao, Anjana
Publisher:London: Nature Publishing Group UK
Journal title:Nature, 2006-05, Vol.441 (7090), p.179-185
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ArticlesPeer ReviewedFull Text
Engraftment of human iPS cells and allogeneic porcine cells into pigs with inactivated RAG2 and accompanying severe combined immunodeficiency
Author / Creator:Lee, Kiho ; Kwon, Deug-Nam ; Ezashi, Toshihiko ; Choi, Yun-Jung ; Park, Chankyu ; Ericsson, Aaron C. ; Brown, Alana N. ; Samuel, Melissa S. ; Park, Kwang-Wook ; Walters, Eric M. ; Kim, Dae Young ; Kim, Jae-Hwan ; Franklin, Craig L. ; Murphy, Clifton N. ; Roberts, R. Michael ; Prather, Randall S. ; Kim, Jin-Hoi
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2014-05, Vol.111 (20), p.7260-7265
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ArticlesPeer ReviewedFull Text
Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell Transplantation
Author / Creator:Punwani, Divya ; Wang, Haopeng ; Chan, Alice Y. ; Cowan, Morton J. ; Mallott, Jacob ; Sunderam, Uma ; Mollenauer, Marianne ; Srinivasan, Rajgopal ; Brenner, Steven E. ; Mulder, Arend ; Claas, Frans H. J. ; Weiss, Arthur ; Puck, Jennifer M.
Publisher:Boston: Springer US
Journal title:Journal of clinical immunology, 2015-02, Vol.35 (2), p.135-146
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ArticlesPeer ReviewedFull Text
Stat3 links activated keratinocytes and immunocytes required for development of psoriasis in a novel transgenic mouse model
Author / Creator:Sano, Shigetoshi ; Chan, Keith Syson ; Carbajal, Steve ; Clifford, John ; Peavey, Mary ; Kiguchi, Kaoru ; Itami, Satoshi ; Nickoloff, Brian J ; DiGiovanni, John
Publisher:New York: Nature Publishing Group US
Journal title:Nature medicine, 2005-01, Vol.11 (1), p.43-49
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ArticlesPeer ReviewedFull Text
Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis
Author / Creator:Field, Martha S. ; Kamynina, Elena ; Watkins, David ; Rosenblatt, David S. ; Stover, Patrick J.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2015-01, Vol.112 (2), p.400-405
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ArticlesPeer ReviewedFull Text
Multilineage hematopoietic reconstitution without clonal selection in ADA-SCID patients treated with stem cell gene therapy
Author / Creator:Aiuti, Alessandro ; Cassani, Barbara ; Andolfi, Grazia ; Mirolo, Massimiliano ; Biasco, Luca ; Recchia, Alessandra ; Urbinati, Fabrizia ; Valacca, Cristina ; Scaramuzza, Samantha ; Aker, Memet ; Slavin, Shimon ; Cazzola, Matteo ; Sartori, Daniela ; Ambrosi, Alessandro ; Di Serio, Clelia ; Roncarolo, Maria Grazia ; Mavilio, Fulvio ; Bordignon, Claudio
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2007-08, Vol.117 (8), p.2233-2240
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ArticlesPeer ReviewedFull Text
Identifying Foxp3-Expressing Suppressor T Cells with a Bicistronic Reporter
Author / Creator:Wan, Yisong Y. ; Flavell, Richard A.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2005-04, Vol.102 (14), p.5126-5131
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ArticlesPeer ReviewedFull Text
IKK-related genetic diseases: probing NF-κB functions in humans and other matters
Author / Creator:Senegas, Anna ; Gautheron, Jérémie ; Maurin, Alice Gentil Dit ; Courtois, Gilles
Publisher:Basel: Springer-Verlag
Journal title:Cellular and molecular life sciences : CMLS, 2015-04, Vol.72 (7), p.1275-1287
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ArticlesPeer ReviewedFull Text
FOXN1 deficient nude severe combined immunodeficiency
Author / Creator:Rota, Ioanna A ; Dhalla, Fatima
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2017-01, Vol.12 (1), p.6-6, Article 6
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ArticlesPeer ReviewedFull Text
Gene regulation mediated by calcium signals in T lymphocytes
Author / Creator:Feske, Stefan ; Giltnane, Jena ; Dolmetsch, Ricardo ; Staudt, Louis M. ; Rao, Anjana
Publisher:New York: Nature Publishing Group US
Journal title:Nature immunology, 2001-04, Vol.2 (4), p.316-324
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ArticlesPeer ReviewedFull Text
An XRCC4 mutant mouse, a model for human X4 syndrome, reveals interplays with Xlf, PAXX, and ATM in lymphoid development
Author / Creator:Roch, Benoit ; Abramowski, Vincent ; Etienne, Olivier ; Musilli, Stefania ; David, Pierre ; Charbonnier, Jean-Baptiste ; Callebaut, Isabelle ; Boussin, François D ; de Villartay, Jean-Pierre
Publisher:England: eLife Science Publications, Ltd
Journal title:eLife, 2021-09, Vol.10
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ArticlesPeer ReviewedFull Text
A model for reticular dysgenesis shows impaired sensory organ development and hair cell regeneration linked to cellular stress
Author / Creator:Rissone, Alberto ; Jimenez, Erin ; Bishop, Kevin ; Carrington, Blake ; Slevin, Claire ; Wincovitch, Stephen M ; Sood, Raman ; Candotti, Fabio ; Burgess, Shawn M
Publisher:England: The Company of Biologists Ltd
Journal title:Disease models & mechanisms, 2019-12, Vol.12 (12)
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Unravelling the association of partial T-cell immunodeficiency and immune dysregulation
Author / Creator:Liston, Adrian ; Enders, Anselm ; Siggs, Owen M.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Immunology, 2008-07, Vol.8 (7), p.545-558
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ArticlesPeer ReviewedFull Text
The kinetics of early T and B cell immune recovery after bone marrow transplantation in RAG-2-deficient SCID patients
Author / Creator:Lev, Atar ; Simon, Amos J ; Bareket, Mor ; Bielorai, Bella ; Hutt, Daphna ; Amariglio, Ninette ; Rechavi, Gideon ; Somech, Raz
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-01, Vol.7 (1), p.e30494-e30494
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Novel compound heterozygous mutations in ZAP70 in a Chinese patient with leaky severe combined immunodeficiency disorder
Author / Creator:Liu, Qing ; Wang, Yan-Ping ; Liu, Qiao ; Zhao, Qin ; Chen, Xue-Mei ; Xue, Xiu-Hong ; Zhou, Li-Na ; Ding, Yuan ; Tang, Xue-Mei ; Zhao, Xiao-Dong ; Zhang, Zhi-Yong
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Immunogenetics (New York), 2017-04, Vol.69 (4), p.199-209
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ArticlesPeer ReviewedFull Text
Compound heterozygous mutation of Rag1 leading to Omenn syndrome
Author / Creator:Matthews, Adam G W ; Briggs, Christine E ; Yamanaka, Keiichi ; Small, Trudy N ; Mooster, Jana L ; Bonilla, Francisco A ; Oettinger, Marjorie A ; Butte, Manish J
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-04, Vol.10 (4), p.e0121489
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Interaction of IL-2R$\beta$ and $\gamma_c$ Chains with Jak1 and Jak3: Implications for XSCID and XCID
Author / Creator:Russell, Sarah M. ; Johnston, James A. ; Noguchi, Masayuki ; Kawamura, Masaru ; Bacon, Chris M. ; Friedmann, Michael ; Berg, Maria ; McVicar, Daniel W. ; Witthuhn, Bruce A. ; Silvennoinen, Olli ; Goldman, Armond S. ; Schmalstieg, Frank C. ; Ihle, James N. ; O'Shea, John J. ; Leonard, Warren J.
Publisher:Washington, DC: American Society for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 1994-11, Vol.266 (5187), p.1042-1045
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Showing 1 to 20 of 32 results

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Evidence of innate lymphoid cell redundancy in humans

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New insights into the regulation of T cells by gamma(c) family cytokines

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Gene therapy for inborn errors of immunity: past, present and future

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A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function

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Engraftment of human iPS cells and allogeneic porcine cells into pigs with inactivated RAG2 and accompanying severe combined immunodeficiency

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Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell Transplantation

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Stat3 links activated keratinocytes and immunocytes required for development of psoriasis in a novel transgenic mouse model

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Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis

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Multilineage hematopoietic reconstitution without clonal selection in ADA-SCID patients treated with stem cell gene therapy

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Identifying Foxp3-Expressing Suppressor T Cells with a Bicistronic Reporter

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IKK-related genetic diseases: probing NF-κB functions in humans and other matters

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FOXN1 deficient nude severe combined immunodeficiency

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Gene regulation mediated by calcium signals in T lymphocytes

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An XRCC4 mutant mouse, a model for human X4 syndrome, reveals interplays with Xlf, PAXX, and ATM in lymphoid development

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A model for reticular dysgenesis shows impaired sensory organ development and hair cell regeneration linked to cellular stress

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Unravelling the association of partial T-cell immunodeficiency and immune dysregulation

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The kinetics of early T and B cell immune recovery after bone marrow transplantation in RAG-2-deficient SCID patients

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Novel compound heterozygous mutations in ZAP70 in a Chinese patient with leaky severe combined immunodeficiency disorder

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Compound heterozygous mutation of Rag1 leading to Omenn syndrome

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Interaction of IL-2R$\beta$ and $\gamma_c$ Chains with Jak1 and Jak3: Implications for XSCID and XCID

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