Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Amanda K Ombrello"'
Autor:
Karyl S. Barron, Ivona Aksentijevich, Natalie T. Deuitch, Deborah L. Stone, Patrycja Hoffmann, Ryan Videgar-Laird, Ariane Soldatos, Jenna Bergerson, Camilo Toro, Cornelia Cudrici, Michele Nehrebecky, Tina Romeo, Anne Jones, Manfred Boehm, Jennifer A. Kanakry, Dimana Dimitrova, Katherine R. Calvo, Hawwa Alao, Devika Kapuria, Gil Ben-Yakov, Dominique C. Pichard, Londa Hathaway, Alessandra Brofferio, Elisa McRae, Natalia Sampaio Moura, Oskar Schnappauf, Sofia Rosenzweig, Theo Heller, Edward W. Cowen, Daniel L. Kastner, Amanda K. Ombrello
Publikováno v:
Frontiers in Immunology, Vol 12 (2022)
The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease that has undergone extensive phenotypic expansion since being first described in patients with fevers, recurrent strokes, livedo racemosa, and polyarteritis
Externí odkaz:
https://doaj.org/article/33cd9736fc644181983208987669339d
Autor:
Jerold Jeyaratnam, Nienke M. ter Haar, Helen J. Lachmann, Ozgur Kasapcopur, Amanda K. Ombrello, Donato Rigante, Fatma Dedeoglu, Ezgi H. Baris, Sebastiaan J. Vastert, Nico M. Wulffraat, Joost Frenkel
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 16, Iss 1, Pp 1-6 (2018)
Abstract Background Withholding live-attenuated vaccines in patients using interleukin (IL)-1 or IL-6 blocking agents is recommended by guidelines for both pediatric and adult rheumatic diseases, since there is a risk of infection in an immune suppre
Externí odkaz:
https://doaj.org/article/921ff49047ad4b6da0c7b2e0a7e9486d
Autor:
Fernanda Gutierrez-Rodrigues, Yael Kusne, Jenna Fernandez, Terra L Lasho, Ruba N Shalhoub, Xiaoyang Ma, Hugh Alessi, Christy M. Finke, Matthew J. Koster, Abhishek A. Mangaonkar, Kenneth J Warrington, Kebede Begna, Zhuoer Xie, Amanda K Ombrello, David S Viswanatha, Marcela A. Ferrada, Lorena Wilson, Ronald S. Go, Taxiarchis V. Kourelis, Kaaren K Reichard, Horatiu Olteanu, Ivana Darden, Dalton Hironaka, Lemlem Alemu, Sachiko Kajigaya, Rodrigo T. Calado, Emma M. Groarke, Sofia Rosenzweig, Daniel L Kastner, Katherine R Calvo, Colin O. Wu, Peter C. Grayson, Neal S Young, David B. Beck, Bhavisha A. Patel, Mrinal M. Patnaik
Publikováno v:
Blood Journal.
VEXAS is caused by somatic mutations in UBA1 (UBA1mut) and characterized by heterogenous systemic auto-inflammation and progressive hematologic manifestations, meeting criteria for myelodysplastic syndrome (MDS) and plasma cell dyscrasias. The landsc
Autor:
Hirotsugu Oda, Kalpana Manthiram, Pallavi Pimpale Chavan, Shuichiro Nakabo, Hye Sun Kuehn, David B. Beck, Jae Jin Chae, Michele Nehrebecky, Amanda K. Ombrello, Tina Romeo, Natalie Deuitch, Brynja Matthíasardóttir, Jim Mullikin, Jennifer Stoddard, Julie Niemela, Holly Anderton, Kate E. Lawlor, Hiroyuki Yoshitomi, Dan Yang, Manfred Boehm, Jeremy Davis, Pamela Mudd, Davide Randazzo, Wanxia Li Tsai, Massimo Gadina, Mariana J. Kaplan, Junya Toguchida, Christian Mayer, Sergio D. Rosenzweig, Kazuhiro Iwai, John Silke, Bertrand Boisson, Jean-Laurent Casanova, Anand Rao, Najoua Lalaoui, Ivona Aksentijevich, Daniel L. Kastner
The linear ubiquitin assembly complex (LUBAC) consists of HOIP, HOIL1 and SHARPIN, and is essential for proper immune responses. Patients with HOIP and HOIL1 deficiencies present with severe immunodeficiency, autoinflammation and glycogen storage. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d271c87ce045c42a0f636fb29f8d5a19
https://doi.org/10.1101/2022.11.09.22281431
https://doi.org/10.1101/2022.11.09.22281431
Autor:
Jason Michael Springer, Selina A. Gierer, Hong Jiang, David Kleiner, Natalie Deuitch, Amanda K. Ombrello, Peter C. Grayson, Ivona Aksentijevich
Publikováno v:
Frontiers in Immunology, Vol 9 (2018)
ObjectiveDescribe the clinical characteristics and histopathology findings in a family with two siblings affected with deficiency of adenosine deaminase 2 (DADA2). Both patients presented in childhood with polyarthritis and developed significant neur
Externí odkaz:
https://doaj.org/article/4802e9f889934688a7d82525b385c498
Autor:
Dimana Dimitrova, Jennifer Sponaugle, Gulbu Uzel, Luigi D. Notarangelo, Alexandra F. Freeman, Jenna R.E. Bergerson, Harry L. Malech, Steven M. Holland, Mark Roschewski, Christopher Melani, Jeffrey I. Cohen, Andrea Lisco, Irini Sereti, Christa S. Zerbe, Amanda K. Ombrello, Deborah Stone, Jennifer Cuellar-Rodriguez, Juan Gea-Banacloche, Jennifer Wilder, Amy Chai, Christopher G. Kanakry, Jennifer A. Kanakry
Publikováno v:
Transplantation and Cellular Therapy. 29:S309-S310
Autor:
Wanxia L. Tsai, Robert A. Colbert, Marcus Y Chen, Arlene Sirajuddin, Ryan S. Laird, Peter C. Grayson, Patrycja Hoffmann, Sinisa Savic, Marcela A. Ferrada, Emma M. Groarke, Kristina V. Wells, Massimo Gadina, Bhavisha A Patel, Mariana J. Kaplan, Keith A. Sikora, Emily Rose, Lorena Wilson, Daniel L. Kastner, Gustaf Wigerblad, Zuoming Deng, Amanda K. Ombrello, Oskar Schnappauf, Emily Rominger, Kaitlin A. Quinn, Daniela Ospina Cardona, Jeff Kim, Ivona Aksentijevich, Neal S. Young, David B. Beck, Wendy Goodspeed, Clint T. Allen, Mimi T. Le, Katherine R. Calvo, Yiming Luo, Anne Jones
Publikováno v:
Arthritis & Rheumatology. 73:1886-1895
Objective Somatic mutations in UBA1 cause a newly defined syndrome known as VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome). More than 50% of patients currently identified as having VEXAS met diagnostic criteria for relapsin
Autor:
Fernanda Gutierrez-Rodrigues, Daniel L. Kastner, David B. Beck, Patrycja Hoffmann, Marcela A. Ferrada, Bhavisha A Patel, Nisha Patel, Megan Trick, Neal S. Young, Peter C. Grayson, Zhijie Wu, Ifeyinwa Emmanuela Obiorah, Daniela Ospina Cardona, Alina Dulau-Florea, Lorena Wilson, Emma M. Groarke, Weixin Wang, Katherine R. Calvo, Jennifer Lotter, Amanda K. Ombrello
Publikováno v:
Blood Adv
Somatic mutations in UBA1 involving hematopoietic stem and myeloid cells have been reported in patients with the newly defined VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Here, we report clinical hematologic manifestati
Autor:
Dimana Dimitrova, Scott Napier, Jennifer Sponaugle, Anita Stokes, Mustafa Hyder, Gulbu Uzel, Luigi D. Notarangelo, Alexandra F. Freeman, Jenna R.E. Bergerson, Steven M. Holland, Mark Roschewski, Christopher Melani, Jeffrey I. Cohen, Andrea Lisco, Irini Sereti, Christa Zerbe, Amanda K. Ombrello, Deborah Stone, Jennifer Cuellar-Rodriguez, Juan Gea-Banacloche, Mark Parta, Jennifer Wilder, Amy Chai, Daniel H. Fowler, Ronald E Gress, Christopher G. Kanakry, Jennifer A. Kanakry
Publikováno v:
Transplantation and Cellular Therapy. 28:S14-S16
Autor:
Patrycja Hoffmann, Neal S. Young, Amanda K. Ombrello, Shouguo Gao, Carrie Diamond, Naoki Watanabe, Zhijie Wu, Sai Batchu, Lemlem Alemu, Diego Quinones Raffo, Sachiko Kajigaya, Deborah L. Stone
Publikováno v:
Journal of Leukocyte Biology. 110:409-424
Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive disease caused by loss-of-function variants in the ADA2 gene. DADA2 typically presents in childhood and is characterized by vasculopathy, stroke, inflammation, immunodeficiency