Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Luigi D. Notarangelo"'
Autor:
Catherine M. Biggs, Anna Cordeiro-Santanach, Sergey V. Prykhozhij, Adam P. Deveau, Yi Lin, Kate L. Del Bel, Felix Orben, Robert J. Ragotte, Aabida Saferali, Sara Mostafavi, Louie Dinh, Darlene Dai, Katja G. Weinacht, Kerry Dobbs, Lisa Ott de Bruin, Mehul Sharma, Kevin Tsai, John J. Priatel, Richard A. Schreiber, Jacob Rozmus, Martin C.K. Hosking, Kevin E. Shopsowitz, Margaret L. McKinnon, Suzanne Vercauteren, Michael Seear, Luigi D. Notarangelo, Francis C. Lynn, Jason N. Berman, Stuart E. Turvey
Publikováno v:
JCI Insight, Vol 7, Iss 24 (2022)
Primary atopic disorders are a group of inborn errors of immunity that skew the immune system toward severe allergic disease. Defining the biology underlying these extreme monogenic phenotypes reveals shared mechanisms underlying common polygenic all
Externí odkaz:
https://doaj.org/article/661f805e9c8745a39ed98cf73418141e
Autor:
Carmelo Carmona-Rivera, Yu Zhang, Kerry Dobbs, Tovah E. Markowitz, Clifton L. Dalgard, Andrew J. Oler, Dillon R. Claybaugh, Deborah Draper, Meng Truong, Ottavia M. Delmonte, Francesco Licciardi, Ugo Ramenghi, Nicoletta Crescenzio, Luisa Imberti, Alessandra Sottini, Virginia Quaresima, Chiara Fiorini, Valentina Discepolo, Andrea Lo Vecchio, Alfredo Guarino, Luca Pierri, Andrea Catzola, Andrea Biondi, Paolo Bonfanti, Maria C. Poli Harlowe, Yasmin Espinosa, Camila Astudillo, Emma Rey-Jurado, Cecilia Vial, Javiera de la Cruz, Ricardo Gonzalez, Cecilia Pinera, Jacqueline W. Mays, Ashley Ng, Andrew Platt, NIH COVID Autopsy Consortium, COVID STORM Clinicians, Beth Drolet, John Moon, Edward W. Cowen, Heather Kenney, Sarah E. Weber, Riccardo Castagnoli, Mary Magliocco, Michael A. Stack, Gina Montealegre, Karyl Barron, Danielle L. Fink, Douglas B. Kuhns, Stephen M. Hewitt, Lisa M. Arkin, Daniel S. Chertow, Helen C. Su, Luigi D. Notarangelo, Mariana J. Kaplan
Publikováno v:
JCI Insight, Vol 7, Iss 16 (2022)
Dysregulation in neutrophil extracellular trap (NET) formation and degradation may play a role in the pathogenesis and severity of COVID-19; however, its role in the pediatric manifestations of this disease, including multisystem inflammatory syndrom
Externí odkaz:
https://doaj.org/article/9966f052157547d38c7511014127ae57
Autor:
Michael S. Abers, Ottavia M. Delmonte, Emily E. Ricotta, Jonathan Fintzi, Danielle L. Fink, Adriana A. Almeida de Jesus, Kol A. Zarember, Sara Alehashemi, Vasileios Oikonomou, Jigar V. Desai, Scott W. Canna, Bita Shakoory, Kerry Dobbs, Luisa Imberti, Alessandra Sottini, Eugenia Quiros-Roldan, Francesco Castelli, Camillo Rossi, Duilio Brugnoni, Andrea Biondi, Laura Rachele Bettini, Mariella D’Angio’, Paolo Bonfanti, Riccardo Castagnoli, Daniela Montagna, Amelia Licari, Gian Luigi Marseglia, Emily F. Gliniewicz, Elana Shaw, Dana E. Kahle, Andre T. Rastegar, Michael Stack, Katherine Myint-Hpu, Susan L. Levinson, Mark J. DiNubile, Daniel W. Chertow, Peter D. Burbelo, Jeffrey I. Cohen, Katherine R. Calvo, John S. Tsang, NIAID COVID-19 Consortium, Helen C. Su, John I. Gallin, Douglas B. Kuhns, Raphaela Goldbach-Mansky, Michail S. Lionakis, Luigi D. Notarangelo
Publikováno v:
JCI Insight, Vol 6, Iss 1 (2021)
Immune and inflammatory responses to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) contribute to disease severity of coronavirus disease 2019 (COVID-19). However, the utility of specific immune-based biomarkers to predict clinical outc
Externí odkaz:
https://doaj.org/article/feaeec76ff49437f8d320c0de85e7c30
Autor:
Paul R. Reynolds, Jean-Laurent Casanova, Mohammad S. Ehlayel, Aurélie Cobat, José L. Chávez, Erwin W. Gelfand, Patrick Maffucci, Patrick J. O’Brien, Chitra Dinakar, Lin Radigan, Charlotte Cunningham-Rundles, Bertrand Boisson, Luigi D. Notarangelo, Jordan K. Abbott, Patricia Cortes, Thomas J. Jurkiw, Austen Worth, Kerstin Felgentreff, Tawfeg Ben-Omran
Publikováno v:
Journal of Clinical Investigation. 128:5489-5504
We report the molecular, cellular, and clinical features of 5 patients from 3 kindreds with biallelic mutations in the autosomal LIG1 gene encoding DNA ligase 1. The patients exhibited hypogammaglobulinemia, lymphopenia, increased proportions of circ
Autor:
Isabelle Meyts, Xin Mu, Emmanuelle Jouanguy, Daxing Gao, Aurélie Cobat, Lazaro Lorenzo, Mary Hasek, Damien Chaussabel, Luigi D. Notarangelo, Darragh Duffy, Vanessa Sancho-Shimizu, Jean-Laurent Casanova, Lorenz Studer, Gregory A. Smith, Sun Hur, Jie Chen, Peng Zhang, Michael J. Ciancanelli, Jessica L. McAlpine, Gabriele Ciceri, Shen-Ying Zhang, Oliver Harschnitz, Yuval Itan, Michael S. Diamond, Benedetta Bigio, Vincent Bondet, Esperanza Anguiano, Laurent Abel
Publikováno v:
Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2021, 131 (1), pp.e134529. ⟨10.1172/JCI134529⟩
J Clin Invest
Journal of Clinical Investigation, 2021, 131 (1), pp.e134529. ⟨10.1172/JCI134529⟩
Journal of Clinical Investigation, American Society for Clinical Investigation, 2021, 131 (1), pp.e134529. ⟨10.1172/JCI134529⟩
J Clin Invest
Journal of Clinical Investigation, 2021, 131 (1), pp.e134529. ⟨10.1172/JCI134529⟩
Human herpes simplex virus 1 (HSV-1) encephalitis can be caused by inborn errors of the TLR3 pathway, resulting in impairment of CNS cell-intrinsic antiviral immunity. Deficiencies of the TLR3 pathway impair cell-intrinsic immunity to vesicular stoma
Autor:
Patrizia Cavadini, William Vermi, Fabio Facchetti, Stefania Fontana, Seiho Nagafuchi, Evelina Mazzolari, Anna Sediva, Veronica Marrella, Anna Villa, Alain Fischer, Luigi D. Notarangelo, Raffaele Badolato
Publikováno v:
Journal of Clinical Investigation. 115:728-732
Omenn syndrome is a severe primary immunodeficiency with putative autoimmune manifestations of the skin and gastrointestinal tract. The disease is caused by hypomorphic mutations in recombination-activating genes that impair but do not abolish the pr