Zobrazeno 1 - 10
of 656
pro vyhledávání: '"Jordan S. Orange"'
Publikováno v:
Allergy, Asthma & Clinical Immunology, Vol 18, Iss 1, Pp 1-19 (2022)
Key messages 1. The JMCN has steadily and substantially grown for more than 2 decades and continues to significantly influence the global Immunology community. 2. In addition to compiling an extensive global patient database, the expanding JMCN acts
Externí odkaz:
https://doaj.org/article/ec4fe58104a34b4f80daad3fa8ed9cb3
Autor:
Sandra Andrea Salinas, Emily M. Mace, Matilde I. Conte, Chun Shik Park, Yu Li, Joshua I. Rosario-Sepulveda, Sanjana Mahapatra, Emily K. Moore, Evelyn R. Hernandez, Ivan K. Chinn, Abigail E. Reed, Barclay J. Lee, Alexander Frumovitz, Richard A. Gibbs, Jennifer E. Posey, Lisa R. Forbes Satter, Akaluck Thatayatikom, Eric J. Allenspach, Theodore G. Wensel, James R. Lupski, H. Daniel Lacorazza, Jordan S. Orange
Publikováno v:
JCI Insight, Vol 7, Iss 23 (2022)
NK cell deficiencies (NKD) are a type of primary immune deficiency in which the major immunologic abnormality affects NK cell number, maturity, or function. Since NK cells contribute to immune defense against virally infected cells, patients with NKD
Externí odkaz:
https://doaj.org/article/e8ed5f88210742fab09bd2ee0e25144a
Autor:
Matilde I. Conte, M. Cecilia Poli, Angelo Taglialatela, Giuseppe Leuzzi, Ivan K. Chinn, Sandra A. Salinas, Emma Rey-Jurado, Nixa Olivares, Liz Veramendi-Espinoza, Alberto Ciccia, James R. Lupski, Juan Carlos Aldave Becerra, Emily M. Mace, Jordan S. Orange
Publikováno v:
JCI Insight, Vol 7, Iss 21 (2022)
Human NK cell deficiency (NKD) is a primary immunodeficiency in which the main clinically relevant immunological defect involves missing or dysfunctional NK cells. Here, we describe a familial NKD case in which 2 siblings had a substantive NKD and ne
Externí odkaz:
https://doaj.org/article/3bd890c22c3949f1a39b3516022e131b
Autor:
Jessica Quinn, Vicki Modell, Britt Johnson, Sarah Poll, Swaroop Aradhya, Jordan S. Orange, Fred Modell
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Genetic disorders that impair the immune system, known as Primary Immunodeficiencies (PI), include over 450 single-gene inborn errors of immunity. Timely and appropriate diagnosis and treatment is vital to quality of life (QOL) and sometimes survival
Externí odkaz:
https://doaj.org/article/028e5dc2ccf24e4b98db06aaa15ddfdd
Autor:
Ryan M. Baxley, Wendy Leung, Megan M. Schmit, Jacob Peter Matson, Lulu Yin, Marissa K. Oram, Liangjun Wang, John Taylor, Jack Hedberg, Colette B. Rogers, Adam J. Harvey, Debashree Basu, Jenny C. Taylor, Alistair T. Pagnamenta, Helene Dreau, Jude Craft, Elizabeth Ormondroyd, Hugh Watkins, Eric A. Hendrickson, Emily M. Mace, Jordan S. Orange, Hideki Aihara, Grant S. Stewart, Edward Blair, Jeanette Gowen Cook, Anja-Katrin Bielinsky
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)
Minichromosome maintenance protein 10 (MCM10) is critical for eukaryotic DNA replication. Here, by modelling MCM10 variants in human cell lines, the authors reveal a mechanism of MCM10-associated disease, finding that loss of MCM10 function constrain
Externí odkaz:
https://doaj.org/article/fcda6dd35e9949f888622bfe0a813011
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Externí odkaz:
https://doaj.org/article/d3f743c0e3fa4c7f9eefa3beeb4b1100
Autor:
Josefina Longeri Contreras, Mabel A. Ladino, Katherine Aránguiz, Gonzalo P. Mendez, Zeynep Coban-Akdemir, Bo Yuan, Richard A. Gibbs, Lindsay C. Burrage, James R. Lupski, Ivan K. Chinn, Tiphanie P. Vogel, Jordan S. Orange, M. Cecilia Poli
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Lysinuric protein intolerance (LPI) is an inborn error of metabolism caused by defective transport of cationic amino acids in epithelial cells of intestines, kidneys and other tissues as well as non-epithelial cells including macrophages. LPI is caus
Externí odkaz:
https://doaj.org/article/7f674538bee04d729f9bb565e0c6aa14
Autor:
Joanna S. Kritikou, Mariana M.S. Oliveira, Julien Record, Mezida B. Saeed, Saket M. Nigam, Minghui He, Marton Keszei, Arnika K. Wagner, Hanna Brauner, Anton Sendel, Saikiran K. Sedimbi, Stamatina Rentouli, David P. Lane, Scott B. Snapper, Klas Kärre, Peter Vandenberghe, Jordan S. Orange, Lisa S. Westerberg
Publikováno v:
JCI Insight, Vol 6, Iss 6 (2021)
X-linked neutropenia (XLN) is caused by gain-of-function mutations in the actin regulator Wiskott-Aldrich Syndrome protein (WASp). XLN patients have reduced numbers of cytotoxic cells in peripheral blood; however, their capacity to kill tumor cells r
Externí odkaz:
https://doaj.org/article/c629a13a387342b6b4e5b5c45a493ae0
Autor:
Nina K. Serwas, Birgit Hoeger, Rico C. Ardy, Sigrun V. Stulz, Zhenhua Sui, Nima Memaran, Marie Meeths, Ana Krolo, Özlem Yüce Petronczki, Laurène Pfajfer, Tie Z. Hou, Neil Halliday, Elisangela Santos-Valente, Artem Kalinichenko, Alan Kennedy, Emily M. Mace, Malini Mukherjee, Bianca Tesi, Anna Schrempf, Winfried F. Pickl, Joanna I. Loizou, Renate Kain, Bettina Bidmon-Fliegenschnee, Jean-Nicolas Schickel, Salomé Glauzy, Jakob Huemer, Wojciech Garncarz, Elisabeth Salzer, Iro Pierides, Ivan Bilic, Jens Thiel, Peter Priftakis, Pinaki P. Banerjee, Elisabeth Förster-Waldl, David Medgyesi, Wolf-Dietrich Huber, Jordan S. Orange, Eric Meffre, David M. Sansom, Yenan T. Bryceson, Amnon Altman, Kaan Boztug
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
CTLA-4 is critical for balancing protective immunity with self-tolerance. Here the authors identify homozygous DEF6 mutations in patients with severe autoimmunity, one of which received and responds to CTLA-4-Ig, and show that DEF6 is crucial for CTL
Externí odkaz:
https://doaj.org/article/2b28c1d1ae924d86a02c99db5aac2d80
Autor:
George Makedonas, Satish Mehta, Alexander Choukèr, Richard J. Simpson, Gailen Marshall, Jordan S. Orange, Serena Aunon-Chancellor, Scott M. Smith, Sara R. Zwart, Raymond P. Stowe, Martina Heer, Sergey Ponomarev, Alexandra Whitmire, Jean P. Frippiat, Grace L. Douglas, Stephanie S. Krieger, Hernan Lorenzi, Judith-Irina Buchheim, Geoffrey S. Ginsburg, C. Mark Ott, Meghan Downs, Duane Pierson, Natalie Baecker, Clarence Sams, Brian Crucian
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Externí odkaz:
https://doaj.org/article/b27e4c4ae0ea4bf2b364c4d3877f2a06