Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Helen F. Matthews"'
Autor:
Marylin Desjardins, Swadhinya Arjunaraja, Jeffrey R. Stinson, Batsukh Dorjbal, Janani Sundaresan, Julie Niemela, Mark Raffeld, Helen F. Matthews, Angela Wang, Pamela Angelus, Helen C. Su, Bruce D. Mazer, Andrew L. Snow
Publikováno v:
Frontiers in Immunology, Vol 9 (2018)
CARD11 is a lymphocyte-specific scaffold molecule required for proper activation of B- and T-cells in response to antigen. Germline gain-of-function (GOF) mutations in the CARD11 gene cause a unique B cell lymphoproliferative disorder known as B cell
Externí odkaz:
https://doaj.org/article/27da10c6f70a47b49f5c81ba79866af4
Autor:
Tingyan He, Yu Zhang, Ahmet Ozen, Helen C. Su, Colin L. Sweeney, Elif Karakoc-Aydiner, Harry L. Malech, Zinan Zhang, Deniz Ertem, Safa Baris, Helen F. Matthews, Kenneth G. C. Smith, Claudia Gonzaga-Jauregui, Yikun Yao, Michael J. Lenardo
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Interleukin (IL)-37, an antiinflammatory IL-1 family cytokine, is a key suppressor of innate immunity. IL-37 signaling requires the heterodimeric IL-18R1 and IL-1R8 receptor, which is abundantly expressed in the gastrointestinal tract. Here we report
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ab16ac2ac84983aa26137b6a65c1c35
Autor:
Limin Wang, Julián Candia, Lichun Ma, Yongmei Zhao, Luisa Imberti, Alessandra Sottini, Eugenia Quiros-Roldan, Kerry Dobbs, Peter D. Burbelo, Jeffrey I. Cohen, Ottavia M. Delmonte, Marshonna Forgues, Hui Liu, Helen F. Matthews, Elana Shaw, Michael A. Stack, Sarah E. Weber, Yu Zhang, Andrea Lisco, Irini Sereti, Helen C. Su, Luigi D. Notarangelo, Xin Wei Wang
Publikováno v:
medRxiv
article-version (status) pre
article-version (number) 1
article-version (status) pre
article-version (number) 1
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is responsible for the pandemic respiratory infectious disease COVID-19. However, clinical manifestations and outcomes differ significantly among COVID-19 patients, ranging from asymptomati
Autor:
Sally Hunsberger, Helen F. Matthews, Samuel D. Chauvin, Juan Zou, Morgan Similuk, Helen C. Su, Susan Price, Juan C. Ravell, Alessandra Brofferio, Michael J. Lenardo, Sergio D. Rosenzweig, Jeffrey I. Cohen
Publikováno v:
Journal of Clinical Immunology. 42:108-118
X-linked MAGT1 deficiency with increased susceptibility to Epstein-Barr virus (EBV) infection and N-linked glycosylation defect (XMEN) disease is an inborn error of immunity caused by loss-of-function mutations in the magnesium transporter 1 (MAGT1)
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:
Sophie Hambleton, Perrine Pennamen, John R. James, Meghan Acres, Wolfram Haller, Anas M. Alazami, Yasuhiro Yamazaki, James Thaventhiran, Jan Sinclair, Yu Zhang, Rainer Doffinger, Helen F. Matthews, David MacDonald, Zinan Zhang, Sophie Naudion, Kenneth G. C. Smith, Fanny Pelluard, Huda Alajlan, Yorgo Modis, Karin R. Engelhardt, Carlos P. Mata, Claire Bowen, Florian Gothe, Caroline Rooryck, Luigi D. Notarangelo, Hamoud Al-Mousa, Michael J. Lenardo
Publikováno v:
The Journal of Experimental Medicine
Zhang et al. identify human IL-2Rβ deficiency as a cause of severe immune dysregulation. The hypomorphic gene mutations reveal variable IL-2Rβ expression and function between different lymphocyte subsets as a means of selectively modulating immune
Autor:
Elif Karakoc Aydine, Helen C. Su, John C. Pascall, Ann Y Park, Safa Baris, Silvia Vilarinho, Jahnavi Aluri, Aaron Morawski, Yu Zhang, Lixin Zheng, Rick P. Lifton, V. Koneti Rao, Sinan Sari, Ahmet Ozen, Helen F. Matthews, Brittany Chao, Isil Barlan, Xijin Xu, Michael Leney-Greene, Ping Jiang, Michael J. Lenardo, Geoff W. Butcher, Matthew Lynberg, Ayca Kiykim
Elucidating the molecular basis of immunodeficiency diseases is a powerful approach to discovering new immunoregulatory pathways in humans. Here we report 10 affected individuals from 4 families with a new immunodeficiency disease comprising of sever
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a7744e76c49f30350b649da8b6037402
https://doi.org/10.1101/2021.02.22.432146
https://doi.org/10.1101/2021.02.22.432146
Autor:
Saliha Esenboga, Sevil Oskay Halacli, Kaan Boztug, Elifcan Aladag, Fatma Gumruk, Tuba Arıkoğlu, Helen F. Matthews, Ozden Sanal, Michael J. Lenardo, Inci Nur Saltik-Temizel, Cagman Tan, Bernice Lo, Hülya Demir, Visal Okur, Burcu Balci-Hayta, Baris Kuskonmaz, Fatih Süheyl Ezgü, Duygu Uçkan Çetinkaya, Betul Karaatmaca, Ilhan Tezcan, Pınar Gur Cetinkaya, Deniz Cagdas, Hakan Goker
Introduction Autosomal recessively inherited lipopolysaccharide-responsive beige-like anchor (LRBA) protein deficiency was shown to be responsible for different types of inborn errors of immunity, such as common variable immunodeficiency (CVID) and a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a455e7c124eb41918632eed9479b8069
https://avesis.gazi.edu.tr/publication/details/a087e674-475b-44cb-968e-6e8dca8b68fb/oai
https://avesis.gazi.edu.tr/publication/details/a087e674-475b-44cb-968e-6e8dca8b68fb/oai
Autor:
Michael A. Weinreich, Megan A. Cooper, Pia J. Hauk, Thomas DiMaggio, Batsukh Dorjbal, Geronimo Dubra, Eric Meffre, Brian S. Kim, Jonathan J. Lyons, Jordan K. Abbott, Erwin W. Gelfand, Chi Ma, Emma Prieto, Kelly D. Stone, Joshua D. Milner, Natsuko Yamakawa, Jeffrey R. Stinson, Silvia Danielian, Jonathan Zaiat, Paul R. Reynolds, Andrew L. Snow, Swadhinya Arjunaraja, Yu Zhang, Elisa Ruffo, Salomé Glauzy, Sergio D. Rosenzweig, Jennifer Stoddard, Marcelo A. Martí, Matías Oleastro, Nina Jones, Neil Romberg, Alejandro Palma, Kelsey Voss, Celeste G Nelson, Joshua J McElwee, Julie E. Niemela, Helen F. Matthews, Yuan Zhang, Andrea Bernasconi
Publikováno v:
Nature Genetics. 49:1192-1201
Few monogenic causes for severe manifestations of common allergic diseases have been identified. Through next-generation sequencing on a cohort of patients with severe atopic dermatitis with and without comorbid infections, we found eight individuals
Autor:
Dave P. Nichols, Laurent Abel, Jordan K. Abbott, Shirin Munir, Jean-Laurent Casanova, Huie Jing, Helen F. Matthews, Michael J. Ciancanelli, Abdelaziz Belkadi, Evan M. Masutani, Ian T. Lamborn, Emmanuel Y. Fordjour, Yu Zhang, Helen C. Su, Heardley M. Murdock, Andrew J. Oler, Peter L. Collins, Linda G. Brock, Corinne Savides Happel, Scott Drutman, Sangeeta Bade, Erwin W. Gelfand, Jason D. Hughes, Celia Santos, Kanta Subbarao, Joshua McElwee
Publikováno v:
The Journal of Experimental Medicine
Journal of Experimental Medicine
Journal of Experimental Medicine
Human MDA5 deficiency features recurrent severe human rhinovirus (HRV) infections. MDA5 serves a protective and nonredundant role in protecting against HRV in the respiratory tract, through its effects on virus sensing and triggering of antiviral IFN