Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Jordan S. Orange"'
Autor:
Emily M. Mace, Carl E. Allen, R. Helen Rouce, Asbjørg Stray-Pedersen, Jordan S. Orange, Shalini N. Jhangiani, Olive S. Eckstein, Kenneth L. McClain, M. Cecilia Poli, Ivan K. Chinn, Hey Chong, Nmazuo W. Ozuah, Jason W. Caldwell, Lisa R. Forbes, Erin C. Peckham-Gregory, Tiphanie P. Vogel, Nader Kim El-Mallawany, Juan C. Aldave-Becerra, Joseph Lubega, Jennifer E. Agrusa, Helen E. Heslop, Zeynep H. Coban-Akdemir, James R. Lupski, Francesco Saettini, Nicholas L. Rider, Stephen Jolles, Natalia S. Chaimowitz, Donna M. Muzny, Richard A. Gibbs, Kala Y. Kamdar, Nitya Gulati
Publikováno v:
J Allergy Clin Immunol
Background Pediatric nonmalignant lymphoproliferative disorders (PLPDs) are clinically and genetically heterogeneous. Long-standing immune dysregulation and lymphoproliferation in children may be life-threatening, and a paucity of data exists to guid
Autor:
Jessica Quinn, Jennifer Holle, Britt Johnson, Rebecca Truty, Fred Modell, Jordan S. Orange, Swaroop Aradhya, Vicki Modell
Publikováno v:
Immunologic Research
Primary immunodeficiencies (PI) are genetic defects of the immune system that result in chronic and often life-threatening infections and/or life-threatening autoimmunity if not diagnosed and treated. Patients with a suspected PI, but without a genet
Autor:
Musa Karakukcu, Ratnadeep Mukherjee, Lynne A. Wolfe, Aaron Morawski, Lixin Zheng, Niraj C. Patel, Samuel D. Chauvin, Helen F. Matthews, Brian Sellers, Julio C. Orrego-Arango, Tingyan He, Susan Price, Alexandre G. R. Day, Pankaj Mehta, Les R. Folio, Giulia Notarangelo, Jordan S. Orange, James T. Anibal, Evan M. Masutani, Pam Angelus, Chrysi Kanellopoulou, Claudia M. Trujillo-Vargas, Sally Hunsberger, David E. Kleiner, Suk See De Ravin, Jenna R.E. Bergerson, Michael J. Lenardo, Devika Kapuria, Matthew Biancalana, Gulbu Uzel, Mami Matsuda-Lennikov, Sebastian Gutierrez-Hincapie, Alex George, Camilo Toro, Jeffrey I. Cohen, Juan Zou, Ivan K. Chinn, Juan C. Ravell, Ping Jiang, Harry L. Malech, William A. Gahl, Ekrem Unal, Grégoire Altan-Bonnet, Matthias Mann, Kyle Binder, Turkan Patiroglu, Stefania Pittaluga, Astin Powers, Helen C. Su, Kimiyo Raymond, Marc G. Ghany, Sally J. Deeb, José Luis Franco, V. Koneti Rao
Publikováno v:
The Journal of clinical investigation, vol 130, iss 1
J Clin Invest
J Clin Invest
X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia (XMEN) disease are caused by deficiency of the magnesium transporter 1 (MAGT1) gene. We studied 23 patients with XMEN, 8 of whom were EBV naive. We observed lymphadenopathy
Autor:
Musa Karakukcu, Atar Lev, Michael J Kraakman, Fabian Hauck, Christoph Klein, Erdener Özer, Nesrin Gulez, Kaan Boztug, Jordan S. Orange, Ivan K. Chinn, Ido Somekh, Alejandro Gallón Duque, Megumi Tatematsu, Meino Rohlfs, Raffaele Conca, Tala Shahin, Ginette Schiby, Eliana Appella, Claudia M. Trujillo-Vargas, Artem Kalinichenko, Marini Thian, Ekrem Unal, José Luis Franco, Turkan Patiroglu, David Medgyesi, Tali Stauber, Raz Somech, Alper Özcan, Amos J. Simon, Yu Nee Lee, Catalina Martinez-Jaramillo, Jeffrey M. Jacobson, Thomas Magg, Jasmin Dmytrus, Ferah Genel, Omer Akcal
Publikováno v:
Blood
Dysregulated immune responses are essential underlying causes of a plethora of pathologies including cancer, autoimmunity, and immunodeficiency. We here investigated 4 patients from unrelated families presenting with immunodeficiency, autoimmunity, a
Autor:
Warren J. Leonard, Amy P. Hsu, Christopher Grivas, Luigi D. Notarangelo, Julia A. Segre, Kerry Dobbs, Gabriel J. Starrett, Maura Manion, Irini Sereti, Christopher B. Buck, Jordan S. Orange, Anju T Peters, Isaac Brownell, Emily M Mace, Andrea Lisco, Peiying Ye, Megan Anderson, Heidi H. Kong, Jennifer A. Kanakry, Stephanie N. Hicks, Michael I Orestes, Diana M. Proctor, Dimana Dimitrova, Dima A. Hammoud, Alvin Farrel
Publikováno v:
N Engl J Med
Human papillomavirus (HPV) infections underlie a wide spectrum of both benign and malignant epithelial diseases. In this report, we describe the case of a young man who had encephalitis caused by herpes simplex virus during adolescence and currently
Autor:
Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Thi Tuyet Mai Nguyen, Rebecca C. Spillmann, Jennifer A. Sullivan, Vandana Shashi, Yong-hui Jiang, Nicholas Stong, Elise Fiala, Marcia Willing, Rolph Pfundt, Tjitske Kleefstra, Megan T. Cho, Heather McLaughlin, Monica Rosello Piera, Carmen Orellana, Francisco Martínez, Alfonso Caro-Llopis, Sandra Monfort, Tony Roscioli, Cheng Yee Nixon, Michael F. Buckley, Anne Turner, Wendy D. Jones, Peter M. van Hasselt, Floris C. Hofstede, Koen L.I. van Gassen, Alice S. Brooks, Marjon A. van Slegtenhorst, Katherine Lachlan, Jessica Sebastian, Suneeta Madan-Khetarpal, Desai Sonal, Naidu Sakkubai, Julien Thevenon, Laurence Faivre, Alice Maurel, Slavé Petrovski, Ian D. Krantz, Jennifer M. Tarpinian, Jill A. Rosenfeld, Brendan H. Lee, Philippe M. Campeau, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Gabriel F. Batzli, Alan H. Beggs, Babak Behnam, Anna Bican, David P. Bick, Camille L. Birch, Devon Bonner, Braden E. Boone, Bret L. Bostwick, Lauren C. Briere, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Shan Chen, Gary D. Clark, Terra R. Coakley, Joy D. Cogan, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Ani Dillon, Katrina M. Dipple, Laurel A. Donnell-Fink, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Ascia Eskin, Cecilia Esteves, Tyra Estwick, Carlos Ferreira, Brent L. Fogel, Noah D. Friedman, William A. Gahl, Emily Glanton, Rena A. Godfrey, David B. Goldstein, Sarah E. Gould, Jean-Philippe F. Gourdine, Catherine A. Groden, Andrea L. Gropman, Melissa Haendel, Rizwan Hamid, Neil A. Hanchard, Lori H. Handley, Matthew R. Herzog, Ingrid A. Holm, Jason Hom, Ellen M. Howerton, Yong Huang, Howard J. Jacob, Mahim Jain, Jean M. Johnston, Angela L. Jones, Isaac S. Kohane, Donna M. Krasnewich, Elizabeth L. Krieg, Joel B. Krier, Seema R. Lalani, C. Christopher Lau, Jozef Lazar, Hane Lee, Shawn E. Levy, Richard A. Lewis, Sharyn A. Lincoln, Allen Lipson, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Marta M. Majcherska, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Thomas C. Markello, Ronit Marom, Julian A. Martínez-Agosto, Shruti Marwaha, Thomas May, Allyn McConkie-Rosell, Colleen E. McCormack, Alexa T. McCray, Matthew Might, Paolo M. Moretti, Marie Morimoto, John J. Mulvihill, Jennifer L. Murphy, Donna M. Muzny, Michele E. Nehrebecky, Stan F. Nelson, J. Scott Newberry, John H. Newman, Sarah K. Nicholas, Donna Novacic, Jordan S. Orange, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, Loren D.M. Pena, John A. Phillips, Jennifer E. Posey, John H. Postlethwait, Lorraine Potocki, Barbara N. Pusey, Chloe M. Reuter, Amy K. Robertson, Lance H. Rodan, Jacinda B. Sampson, Susan L. Samson, Kelly Schoch, Molly C. Schroeder, Daryl A. Scott, Prashant Sharma, Rebecca Signer, Edwin K. Silverman, Janet S. Sinsheimer, Kevin S. Smith, Kimberly Splinter, Joan M. Stoler, David A. Sweetser, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Tiina K. Urv, Zaheer M. Valivullah, Eric Vilain, Tiphanie P. Vogel, Colleen E. Wahl, Nicole M. Walley, Chris A. Walsh, Patricia A. Ward, Katrina M. Waters, Monte Westerfield, Anastasia L. Wise, Lynne A. Wolfe, Elizabeth A. Worthey, Shinya Yamamoto, Yaping Yang, Guoyun Yu, Diane B. Zastrow, Allison Zheng
Publikováno v:
American Journal of Human Genetics, 104(1), 164. Cell Press
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
American Journal of Human Genetics, 104(1), 164-178. Cell Press
American Journal of Human Genetics, 104, 1, pp. 164-178
American Journal of Human Genetics, 104, 164-178
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
American Journal of Human Genetics, 104(1), 164-178. Cell Press
American Journal of Human Genetics, 104, 1, pp. 164-178
American Journal of Human Genetics, 104, 164-178
Contains fulltext : 202800.pdf (Publisher’s version ) (Open Access) SMARCC2 (BAF170) is one of the invariable core subunits of the ATP-dependent chromatin remodeling BAF (BRG1-associated factor) complex and plays a crucial role in embryogenesis and
Autor:
Elizabeth Ludwig, Ukachi N. Emeruwa, Sally Sultan, Jordan S. Orange, M. Kathleen Keown, Erin Hanft, Lauren Walzer, Grace V. Liao, Mary E. D'Alton, Wanda Abreu, Maria Andrikopoulou, Margaret H. Kyle, Melissa E. Glassman, Dena Goffman, Caroline Sibblies, David Rubenstein, Dani Dumitriu, Caitlin Baptiste, Lynn L. Simpson, Melissa S. Stockwell, Adrita Khan, Anna Penn, Lisa Saiman, Archana Gupta, Tessa Scripps, Minna Saslaw, Cynthia Gyamfi-Bannerman, Francis Akita, Ashley B. Stephens, Karin Fuchs, Alexander M. Friedman, Russell S. Miller, Susan Whittier, Noelle Breslin, Cristina R. Fernández, Daniel S. Hirsch, Brittany Arditi
Publikováno v:
JAMA Pediatr
JAMA Pediatrics
JAMA Pediatrics
IMPORTANCE: Limited data on vertical and perinatal transmission of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and health outcomes of neonates born to mothers with symptomatic or asymptomatic coronavirus disease 2019 (COVID-19) are a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c268df2f542b722b72bf38c6ffea46d
https://europepmc.org/articles/PMC7551222/
https://europepmc.org/articles/PMC7551222/
Autor:
Irini Sereti, Roshini S. Abraham, Stephen A. Migueles, Alina Dulau-Florea, Mark Connors, Amy P. Hsu, Chun-Shu Wong, Princess U. Ogbogu, Peiying Ye, Megan Anderson, Clarisa M. Buckner, Adam Rupert, Susan Moir, Luxin Pei, Luigi D. Notarangelo, Emily M. Mace, Addison J. Ward, Jordan S. Orange, Andrea Lisco, Silvia Lucena Lage, Dylan T. Timberlake, Stefania Pittaluga
Publikováno v:
The Journal of Infectious Diseases
CD4 expression identifies a subset of mature T cells primarily assisting the germinal center reaction and contributing to CD8+ T-cell and B-cell activation, functions, and longevity. Herein, we present a family in which a novel variant disrupting the
Autor:
Deepti R, Deshpande, Yesim Y, Demirdag, Rebecca A, Marsh, Kathleen E, Sullivan, Jordan S, Orange
Publikováno v:
Journal of clinical immunology. 41(1)
DiGeorge syndrome has substantial heterogeneity with variable immune deficiency and dysregulation. Implicated immunopathology includes reduced thymic output and increased peripheral homeostatic proliferation with Th2 skewing and expansion of self-rea
Autor:
Caridad Martinez, Robert A. Krance, Nicholas L. Rider, Bilal Omer, Alexander Ngwube, William Shearer, Ghadir Sasa, Nabil Ahmed, Swati Naik, Stephen Gottschalk, Jordan S. Orange, Malcolm K. Brenner, Filiz O. Seeborg, Meng Fen Wu, Carl E. Allen, I. Celine Hanson, Helen E. Heslop, Lenora M. Noroski, Lisa R. Forbes, Sarah K. Nicholas, Hao Liu, Kathryn Leung, Meenakshi Hegde
Publikováno v:
Biology of Blood and Marrow Transplantation. 24:537-541
Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder characterized by a triad of immunodeficiency, eczema, and thrombocytopenia. Currently, hematopoietic stem cell transplantation (HSCT) is the most reliable curative treatment with excellent re