Search Results - Lisa R. Forbes

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  1. 1
    Signal transducer and activator of transcription 3

    Signal transducer and activator of transcription 3 by Lisa R. Forbes, Josh Milner, Élie Haddad

    Published 2015
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  2. 2
    STAT1 Gain of Function, Type 1 Diabetes, and Reversal with JAK Inhibition

    STAT1 Gain of Function, Type 1 Diabetes, and Reversal with JAK Inhibition by Natalia S. Chaimowitz, Sophia J. Ebenezer, I. Celine Hanson, Mark S. Anderson, Lisa R. Forbes

    Published 2020
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  3. 3
    Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity

    Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity by Jennifer T. Grier, Lisa R. Forbes, Linda Monaco-Shawver, Jennifer Oshinsky, T. Prescott Atkinson, Curtis Moody, Rahul Pandey, Kerry S. Campbell, Jordan S. Orange

    Published 2012
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  4. 4
    Practical NK cell phenotyping and variability in healthy adults

    Practical NK cell phenotyping and variability in healthy adults by Laura S. Angelo, Pinaki P. Banerjee, Linda Monaco-Shawver, Joshua B. Rosen, George Makedonas, Lisa R. Forbes, Emily M. Mace, Jordan S. Orange

    Published 2015
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  5. 5
    Clinical Aspects of STAT3 Gain-of-Function Germline Mutations: A Systematic Review

    Clinical Aspects of STAT3 Gain-of-Function Germline Mutations: A Systematic Review by Alexandre Fabre, Sarah Marchal, Vincent Barlogis, Bernard Mari, Pascal Barbry, Pierre‐Simon Rohrlich, Lisa R. Forbes, Tiphanie P. Vogel, Lisa Giovannini‐Chami

    Published 2019
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  6. 6
    Guidelines for day‐case surgery 2019

    Guidelines for day‐case surgery 2019 by Craig R. Bailey, Manisha Ahuja, Karen Bartholomew, Stephanie Bew, Lisa R. Forbes, Anna Lipp, Jane Montgomery, Kim Russon, O. Potparic, Martin Stocker

    Published 2019
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  7. 7
    Cell biological steps and checkpoints in accessing NK cell cytotoxicity

    Cell biological steps and checkpoints in accessing NK cell cytotoxicity by Emily M. Mace, Prachi Dongre, Hsiang‐Ting Hsu, Papiya Sinha, Ashley M. James, Shaina S. Mann, Lisa R. Forbes, Levi B. Watkin, Jordan S. Orange

    Published 2014
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  8. 8
    High-resolution phenotyping identifies NK cell subsets that distinguish healthy children from adults

    High-resolution phenotyping identifies NK cell subsets that distinguish healthy children from adults by Sanjana Mahapatra, Emily M. Mace, Charles G. Minard, Lisa R. Forbes, Alexander Vargas‐Hernández, Teresa Duryea, George Makedonas, Pinaki P. Banerjee, William T. Shearer, Jordan S. Orange

    Published 2017
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  9. 9
    Association of Rituximab Use With Adverse Events in Children, Adolescents, and Young Adults

    Association of Rituximab Use With Adverse Events in Children, Adolescents, and Young Adults by Casey L. McAtee, Joseph Lubega, Kristen Underbrink, Kristen Curry, Pavlos Msaouel, M.E.H. BARROW, Eyal Muscal, Timothy Lotze, Poyyapakkam Srivaths, Lisa R. Forbes, Carl E. Allen, M. Brooke Bernhardt

    Published 2021
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  10. 10
    Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease

    Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease by Timothy J. Vece, Levi B. Watkin, Sarah K. Nicholas, Debra Canter, Michael Braun, R. Paul Guillerman, Karen W. Eldin, Grant Bertolet, Scott McKinley, Marietta De Guzman, Lisa R. Forbes, Iván K. Chinn, Jordan S. Orange

    Published 2016
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  11. 11
    Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation

    Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mu... by Katja G. Weinacht, Louis‐Marie Charbonnier, Fayhan Alroqi, Ashley Plant, Qi Qiao, Hao Wu, Clement Ma, Troy R. Torgerson, Sergio D. Rosenzweig, Thomas A. Fleisher, Luigi D. Notarangelo, I. Celine Hanson, Lisa R. Forbes, Talal A. Chatila

    Published 2017
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  12. 12
    Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment

    Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment by Raquel Ruiz‐García, Alexander Vargas‐Hernández, Iván K. Chinn, Laura S. Angelo, Tram N. Cao, Zeynep Coban‐Akdemir, Shalini N. Jhangiani, Qingchang Meng, Lisa R. Forbes, Donna M. Muzny, Luís M. Allende, M S Ehlayel, Richard A. Gibbs, James R. Lupski, Gülbû Uzel, Jordan S. Orange, Emily M. Mace

    Published 2018
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  13. 13
    Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations

    Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations by Alexander Vargas‐Hernández, Emily M. Mace, Ofer Zimmerman, Christa S. Zerbe, Alexandra F. Freeman, Sergio D. Rosenzweig, Jennifer W. Leiding, Troy R. Torgerson, Matthew C. Altman, Edith Schussler, Charlotte Cunningham‐Rundles, Iván K. Chinn, Alexandre F. Carisey, I. Celine Hanson, Nicholas L. Rider, Steven M. Holland, Jordan S. Orange, Lisa R. Forbes

    Published 2017
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  14. 14
    Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature

    Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature by Aidé Tamara Staines Boone, Iván K. Chinn, Carmen Aláez‐Verson, Marco Antonio Yamazaki‐Nakashimada, Karol Carrillo‐Sánchez, María de la Luz Hortensia García-Cruz, M. Cecilia Poli, María Edith González Serrano, Edgar Alejandro Medina Torres, David Muzquiz Zermeño, Lisa R. Forbes, Francisco Espinosa‐Rosales, Sara Elva Espinosa‐Padilla, Jordan S. Orange, Saúl Oswaldo Lugo Reyes

    Published 2019
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  15. 15
    Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in <i>IL 7 R</i> detected by tandem whole exome sequencing and chromosomal microarray

    Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in <i>IL 7 R</i> detected by tandem whole ex... by Diana K. Bayer, Caridad Martinez, Hanne Sørmo Sorte, Lisa R. Forbes, Gail J. Demmler‐Harrison, I. Celine Hanson, Nathaniel M. Pearson, Lenora M. Noroski, Sherif R. Zaki, William J. Bellini, Magalie S. Leduc, Yuan Yang, Christine M. Eng, Ankita Patel, Olaug K. Rødningen, Donna M. Muzny, Richard A. Gibbs, Ian M. Campbell, Chad A. Shaw, Mei Baker, V Zhang, James R. Lupski, Jordan S. Orange, Filiz O. Seeborg, Asbjørg Stray‐Pedersen

    Published 2014
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  16. 16
    Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations

    Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations by Lisa R. Forbes, Tiphanie P. Vogel, Megan A. Cooper, Johana B Castro-Wagner, Edith Schussler, Katja G. Weinacht, Ashley Plant, Helen C. Su, Eric J. Allenspach, Mary Slatter, Mario Abinun, Desa Lilić, Charlotte Cunningham‐Rundles, Olive S. Eckstein, Peter Olbrich, R. Paul Guillerman, Niraj Patel, Yeşim Yılmaz Demirdağ, Christa S. Zerbe, Alexandra F. Freeman, Steven M. Holland, Paul Szabolcs, Andrew R. Gennery, Troy R. Torgerson, Joshua D. Milner, Jennifer W. Leiding

    Published 2018
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  17. 17
    Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

    Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome by M. Cecilia Poli, Frédéric Ebstein, Sarah K. Nicholas, Marietta M. de Guzman, Lisa R. Forbes, Iván K. Chinn, Emily M. Mace, Tiphanie P. Vogel, Alexandre F. Carisey, Felipe Benavides, Zeynep Coban‐Akdemir, Richard A. Gibbs, Shalini N. Jhangiani, Donna M. Muzny, Claudia M.B. Carvalho, Deborah Schady, Mahim Jain, Jill A. Rosenfeld, Lisa Emrick, Richard A. Lewis, Brendan Lee, Barbara A. Zieba, Sébastien Küry, Elke Krüger, James R. Lupski, Bret L. Bostwick, Jordan S. Orange

    Published 2018
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  18. 18
    IFN-γ signature in the plasma proteome distinguishes pediatric hemophagocytic lymphohistiocytosis from sepsis and SIRS

    IFN-γ signature in the plasma proteome distinguishes pediatric hemophagocytic lymphohistiocytosis from sepsis and SIRS by Howard Lin, Brooks Scull, Baruch R. Goldberg, Harshal Abhyankar, Olive E. Eckstein, Daniel Zinn, Joseph Lubega, Jennifer E. Agrusa, Nader El Mallawaney, Nitya Gulati, Lisa R. Forbes, Iván K. Chinn, Rikhia Chakraborty, Jessica Velasquez, Jordana Goldman, Dalia Bashir, Fong Lam, Eyal Muscal, M M Henry, Jay Greenberg, Stephan Ladisch, Michelle L. Hermiston, Lauren K. Meyer, Michael Jeng, Ahmed Naqvi, Kenneth L. McClain, Trung Nguyen, Hector R. Wong, Tsz‐Kwong Man, Michael B. Jordan, Carl E. Allen

    Published 2021
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  19. 19
    Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis

    Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis by Iván K. Chinn, Olive S. Eckstein, Erin C. Peckham‐Gregory, Baruch R. Goldberg, Lisa R. Forbes, Sarah K. Nicholas, Emily M. Mace, Tiphanie P. Vogel, Harshal Abhyankar, María I. Díaz, Helen E. Heslop, Robert A. Krance, Caridad Martinez, Trung C. Nguyen, Dalia Bashir, Jordana Goldman, Asbjørg Stray‐Pedersen, Luis Alberto Pedroza, M. Cecilia Poli, Juan Carlos Aldave Becerra, Sean McGhee, Waleed Al‐Herz, Aghiad Chamdin, Zeynep Coban‐Akdemir, Shalini N. Jhangiani, Donna M. Muzny, Tram N. Cao, Diana N. Hong, Richard A. Gibbs, James R. Lupski, Jordan S. Orange, Kenneth L. McClain, Carl E. Allen

    Published 2018
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  20. 20
    PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

    PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia by Asbjørg Stray‐Pedersen, Paul Hoff Backe, Hanne Sørmo Sorte, Lars Mørkrid, Niti Chokshi, Hans Christian Erichsen, Tomasz Gambin, Katja Benedikte Prestø Elgstøen, Magnar Bjørås, Marcin W. Włodarski, Marcus Krüger, Shalini N. Jhangiani, Donna M. Muzny, Ankita Patel, Kimiyo Raymond, Ghadir Sasa, Robert A. Krance, Caridad Martinez, Shirley Abraham, Carsten Speckmann, Stephan Ehl, Patricia Hall, Lisa R. Forbes, Else Merckoll, Jostein Westvik, Gen Nishimura, Cecilie F. Rustad, Tore G. Abrahamsen, Arild Rønnestad, Liv Osnes, Torstein Egeland, Olaug K. Rødningen, Christine R. Beck, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski, Jordan S. Orange, Ekkehart Lausch, I. Celine Hanson

    Published 2014
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