Results 41 to 50 of about 8,524 (262)
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 [PDF]
, 2020 Clinical outcome upon infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ranges from silent infection to lethal coronavirus disease 2019 (COVID-19).Imagine COVID Group, French COVID Cohort Study Group, COVID Human Genetic Effort, Seppänen, Mikko, COVID-STORM Clinicians, COVID Clinicians, Zhang, Qian, NIAID-USUHS, TAGC COVID Immunity Group, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank +10 morecore +3 more sourcesALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver
Hepatology, EarlyView., 2022 Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims
In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch +20 morewiley +1 more sourceRecessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia [PDF]
, 2022 In an international cohort of 112 children hospitalized for moderate to critical COVID-19 pneumonia, we identified 12 children with one of four known recessive inborn errors of type I interferon immunity: X-linked TLR7 and autosomal IFNAR1, STAT2, and ...Qiang Pan-Hammarström, Seppänen, Mikko R. J., Bucciol, Giorgia, Maniatis, Tom, Hatipoglu, Nevin, Manish J. Butte, Abou Tayoun, Ahmad, José Luis Franco, Resnick, Igor, Alexandre Belot, Anastasiia Bondarenko, Adem Karbuz, Keisuke Okamoto, Shen-Ying Zhang, Franco, José Luis, Pawel Zawadzki, Jean-Laurent Casanova, Sathishkumar Ramaswamy, Ku, Cheng-Lung, Slaby, Ondrej, Slaba, Katerina, Elena W.Y. Hsieh, Sarah E. Henrickson, Qian Zhang, Roger Colobran, Planas, Anna M., Dalgard, Clifton L., Husebye, Eystein, Gregersen, Peter K., Horst von Bernuth, Mark S. Anderson, Zhang, Qian, László Maródi, Jonathan Bohlen, Ahmad Abou Tayoun, Quintana-Murci, Lluis, Vinh, Donald C., Şadiye Kübra Tüter Öz, Dusan Bogunovic, Aiuti, Alessandro, Spaan, András N., Ondrej Slaby, Joshua D. Milner, Turvey, Stuart E., Stefan N. Constantinescu, Stuart G. Tangye, Bayhan, Gulsum Ical, Baris Feldman, Hagit, Ivan Tancevski, Perez de Diego, Rebeca, Mikko R.J. Seppänen, Asano, Takaki, Ramaswamy, Sathishkumar, Tancevski, Ivan, Erich D. Jarvis, András N. Spaan, John Christodoulou, Kendir-Demirkol, Yasemin, Abolhassani, Hassan, Tom Maniatis, Bolze, Alexandre, Ng, Lisa F. P., Le Pen, Jérémie, Al-Mulla, Fahd, Benoit Florkin, Maródi, László, Aysun Yahsi, Antonio Condino-Neto, Lien De Somer, Ozcelik, Tayfun, Yu-Lung Lau, Jamila El Baghdadi, Renia, Laurent, Megan A. Cooper, Vanessa Sancho-Shimizu, Shahrooei, Mohammed, Karamitros, Timokratis, Sevgi Keles, Andreakos, Evangelos, Rodríguez-Gallego, Carlos, Filomeen Haerynck, Jing, Huie, Peter K. Gregersen, Sancho-Shimizu, Vanessa, Pokorna, Petra, Andrew L. Snow, Keles, Sevgi, Tangye, Stuart G., Shcherbina, Anna, Ayca Kiykim, Christodoulou, John, Carlos Flores, Cooper, Megan A., Flores, Carlos, Daniela Matuozzo, Carlos Rodríguez-Gallego, Pan-Hammarström, Qiang, Zatz, Mayana, Stéphanie Boisson-Dupuis, Lucy Bizien, Jacques Fellay, Anderson, Mark S., Condino-Neto, Antonio, Zawadzki, Pawel, Igor Resnick, Zhang, Shen-Ying, Bodo Grimbacher, Carrie L. Lucas, Meyts, Isabelle, Ling, Yun, Lau, Yu-Lung, Mohammed J. Uddin, Perlin, David S., Jouanguy, Emmanuelle, Giorgia Bucciol, Lisa F.P. Ng, Mayana Zatz, Pape, Jean W., James R. Heath, Cliona O'Farrelly, Leo, Yee-Sin, Biggs, Catherine M., Imai, Kohsuke, Morio, Tomohiro, Kohsuke Imai, Isabelle Meyts, Erdeniz, Emine Hafize, Moncada-Velez, Marcela, Emmanuelle Jouanguy, Lee, Danyel, Dimitris Thanos, Donald C. Vinh, Selket Delafontaine, K M Furkan Uddin, Arias, Andrés A., Lifton, Richard P., Bohlen, Jonathan, El Baghdadi, Jamila, Morelle, Guillaume, Leen Moens, Carlos D. Bustamante, Lluis Quintana-Murci, Yun Ling, Anna Shcherbina, Bustamante, Carlos D., David S. Perlin, Timokratis Karamitros, Pujol, Aurora, Mansouri, Davood, Gulsum Alkan, Heath, James R., Mohammed Shahrooei, Ahmed A. Bousfiha, Clifton L. Dalgard, Grimbacher, Bodo, Snow, Andrew L., Davood Mansouri, Ozge Metin Akcan, Hagin, David, Desai, Murkesh, Rebeca Perez de Diego, Emine Hafize Erdeniz, Belgin Gulhan, Boisson-Dupuis, Stéphanie, Henrickson, Sarah E., Eystein Husebye, Bertrand Boisson, Zhiyong Liu, Katerina Slaba, Saliha Kanik Yuksek, Froidure, Antoine, Sefika Elmas Bozdemir, Kristina Mironska, Belot, Alexandre, Alexandre Bolze, Hammarström, Lennart, Rice, Charles M., Papadaki, Maria, Vermeulen, François, Constantinescu, Stefan N., Espinosa-Padilla, Sara, Boisson, Bertrand, Jérémie Le Pen, Hsieh, Elena W. Y., Catherine M. Biggs, Hancerli, Selda, Butte, Manish J., Graziano Pesole, Fellay, Jacques, Novelli, Giuseppe, Sara Espinosa-Padilla, Giuseppe Novelli, Cheng-Lung Ku, Stuart E. Turvey, Takaki Asano, Beth A. Drolet, Luigi D. Notarangelo, Petr Jabandziev, Lye, David Chien, Metin, Ayse, Mironska, Kristina, Andrés A. Arias, O'Farrelly, Cliona, Hagit Baris Feldman, Barnaby Edward Young, Bozdemir, Sefika Elmas, Anna Sediva, Danyel Lee, Carolina Prando, François Vermeulen, Lennart Hammarström, Delafontaine, Selket, van de Beek, Diederik, Brodin, Petter, Young, Barnaby Edward, Petter Brodin, Matuozzo, Daniela, Liu, Zhiyong, Giorgio Casari, Marcela Moncada-Velez, Aurora Pujol, Helen C. Su, Astrid Marchal, Anna M. Planas, Carine Wouters, Prando, Carolina, Emiroglu, Melike, Tayfun Ozcelik, Al-Muhsen, Saleh, Tüter Öz, Şadiye Kübra, Selda Hancerli, David Hagin, Jacques G. Rivière, Aurélie Cobat, Parlakay, Aslinur Ozkaya, Drolet, Beth A., Nevin Hatipoglu, David Chien Lye, Jabandziev, Petr, Yee-Sin Leo, Rabih Halwani, von Bernuth, Horst, Satoshi Okada, Laurent Renia, Richard P. Lifton, Bizien, Lucy, Bondarenko, Anastasiia, Saleh Al-Muhsen, Pere Soler-Palacín, Jarvis, Erich D., Kai Kisand, Maria Papadaki, Yasemin Kendir-Demirkol, Sediva, Anna, Kanik Yuksek, Saliha, Haerynck, Filomeen, Joost Wauters, Okamoto, Keisuke, Su, Helen C., Okada, Satoshi, Uddin, Mohammed J., Aslinur Ozkaya Parlakay, Diederik van de Beek, Yenan Bryceson, Cobat, Aurélie, De Somer, Lien, Yuval Itan, Moens, Leen, Karbuz, Adem, Jalila El Bakkouri, Florkin, Benoit, Rivière, Jacques G., Melike Emiroglu, Trine H. Mogensen, Laurent Abel, Novelli, Antonio, Guillaume Morelle, Wouters, Carine, Jean W. Pape, Charles M. Rice, Petra Pokorna, Paul Bastard, Gulhan, Belgin, Kisand, Kai, Tomohiro Morio, Akcan, Ozge Metin, Alkan, Gulsum, Thanos, Dimitris, Evangelos Andreakos, Murkesh Desai, Bryceson, Yenan, Mogensen, Trine H., Gulsum Ical Bayhan, Uddin, K M Furkan, Marchal, Astrid, Itan, Yuval, Antoine Froidure, Alessandro Aiuti, Bastard, Paul, El Bakkouri, Jalila, Fahd Al-Mulla, Huie Jing, Antonio Novelli, Bogunovic, Dusan, Halwani, Rabih, Kiykim, Ayca, Wauters, Joost, Lucas, Carrie L., Pesole, Graziano, Ayse Metin, Notarangelo, Luigi D., Casari, Giorgio, Soler-Palacín, Pere, Colobran, Roger, Bousfiha, Ahmed A., Hassan Abolhassani, Abel, Laurent, Casanova, Jean-Laurent, Yahsi, Aysun, Milner, Joshua D. +319 morecore +2 more sourcesHuman Inborn Errors of Immunity: 2019 Update on the Classification
, 2020 : We report the updated classification of Inborn Errors of Immunity/Primary Immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee.Torgerson, Troy R, Oksenhendler, Eric, Franco Restrepo, José Luis, Tangye, Stuart, Sullivan, Kathleen E, Holland, Steven, Bousfiha, Aziz, Ochs, Hans D, Holland, Steven M, Puck, Jennifer, Etzioni, Amos, Chatila, Talal, Klein, Christoph, Al-Herz, Waleed, Cunningham-Rundles, Charlotte, Tangye, Stuart G, Casanova, Jean-Laurent, Picard, Capucine, Morio, Tomohiro +18 morecore +1 more sourceTransition of care in inborn errors of immunity
Current Opinion in Allergy & Clinical Immunology, 2023 Purpose of review This review outlines the principles of transition, summarizes current information about transition practices in inborn errors of immunity (IEI) and highlights general and specific considerations for transition of patients with these conditions.Tadros, Susan, Burns, Siobhan O.openaire +2 more sourcesNovel genetic variants of inborn errors of immunity.
PLoS ONE, 2021 ObjectivesInborn errors of immunity (IEI) are prevalent in tribal cultures due to frequent consanguineous marriages. Many of these disorders are autosomal recessive, resulting from founder mutations; hence they are amenable to prevention.Farida Almarzooqi, Abdul-Kader Souid, Ranjit Vijayan, Suleiman Al-Hammadi +3 moredoaj +1 more source