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Anzahl der Publikationen: 15
Zeitschriftenartikel
Haimel, Matthias; Pazmandi, Julia; Heredia, Raul Jimenez; Dmytrus, Jasmin; Bal, Sevgi Koestel; Zoghi, Samaneh; Daele, Paul van; Briggs, Tracy A.; Wouters, Carine; Bader-Meunier, Brigitte; Aeschlimann, Florence A.; Caorsi, Roberta; Eleftheriou, Despina; Hoppenreijs, Esther; Salzer, Elisabeth; Bakhtiar, Shahrzad; Derfalvi, Beata; Saettini, Francesco; Kusters, Maaike A. A.; Elfeky, Reem; Truck, Johannes; Riviere, Jacques G.; Burg, Mirjam van der; Gattorno, Marco; Seidel, Markus G.; Burns, Siobhan; Warnatz, Klaus; Hauck, Fabian; Brogan, Paul; Gilmour, Kimberly C.; Schuetz, Catharina; Simon, Anna; Bock, Christoph; Hambleton, Sophie; Vries, Esther de; Robinson, Peter N.; Gijn, Marielle van und Boztug, Kaan
(2022):
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
In: Journal of Allergy and Clinical Immunology, Bd. 149, Nr. 1: S. 369-378
Egg, David; Rump, Ina Caroline; Mitsuiki, Noriko; Rojas-Restrepo, Jessica; Maccari, Maria-Elena; Schwab, Charlotte; Gabrysch, Annemarie; Warnatz, Klaus; Goldacker, Sigune; Patino, Virginia; Wolff, Daniel; Okada, Satoshi; Hayakawa, Seiichi; Shikama, Yoshiaki; Kanda, Kenji; Imai, Kohsuke; Sotomatsu, Manabu; Kuwashima, Makoto; Kamiya, Takahiro; Morio, Tomohiro; Matsumoto, Kazuaki; Mori, Takeshi; Yoshimoto, Yuri; Dybedal, Ingunn; Kanariou, Maria; Kucuk, Zeynep Yesim; Chapdelaine, Hugo; Petruzelkova, Lenka; Lorenz, Hanns-Martin; Sullivan, Kathleen E.; Heimall, Jennifer; Moutschen, Michel; Litzman, Jiri; Recher, Mike; Albert, Michael H.; Hauck, Fabian; Seneviratne, Suranjith; Schmid, Jana Pachlopnik; Kolios, Antonios; Unglik, Gary; Klemann, Christian; Snapper, Scott; Giulino-Roth, Lisa; Svaton, Michael; Platt, Craig D.; Hambleton, Sophie; Neth, Olaf; Gosse, Geraldine; Reinsch, Steffen; Holzinger, Dirk; Kim, Yae-Jean; Bakhtiar, Shahrzad; Atschekzei, Faranaz; Schmidt, Reinhold; Sogkas, Georgios; Chandrakasan, Shanmuganathan; Rae, William; Derfalvi, Beata; Marquart, Hanne Vibeke; Ozen, Ahmet; Kiykim, Ayca; Karakoc-Aydiner, Elif; Kralickova, Pavlina; de Bree, Godelieve; Kiritsi, Dimitra; Seidel, Markus G.; Kobbe, Robin; Dantzer, Jennifer; Alsina, Laia; Armangue, Thais; Lougaris, Vassilios; Agyeman, Philipp; Nystrom, Sofia; Buchbinder, David; Arkwright, Peter D. und Grimbacher, Bodo
(2022):
Therapeutic options for CTLA-4 insufficiency.
In: Journal of Allergy and Clinical Immunology, Bd. 149, Nr. 2: S. 736-746
Gothe, Florian; Stremenova Spegarova, Jarmila; Hatton, Catherine F.; Griffin, Helen; Sargent, Thomas; Cowley, Sally A.; James, William; Roppelt, Anna; Shcherbina, Anna; Hauck, Fabian; Reyburn, Hugh T.; Duncan, Christopher J. A. und Hambleton, Sophie
(2022):
Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency.
In: Journal of Allergy and Clinical Immunology, Bd. 150, Nr. 4: S. 955-964
Pelham, Simon J.; Caldirola, Maria Soledad; Avery, Danielle T.; Mackie, Joseph; Rao, Geetha; Gothe, Florian; Peters, Timothy J.; Guerin, Antoine; Neumann, David; Vokurkova, Doris; Hwa, Vivian; Zhang, Wenming; Lyu, Shu-Chen; Chang, Iris; Manohar, Monali; Nadeau, Kari C.; Gaillard, Maria Isabel; Bezrodnik, Liliana; Iotova, Violeta; Zwirner, Norberto Walter; Gutierrez, Mavel; Al-Herz, Waleed; Goodnow, Christopher C.; Vargas-Hernandez, Alexander; Satter, Lisa R. Forbes; Hambleton, Sophie; Deenick, Elissa K.; Ma, Cindy S. und Tangye, Stuart G.
(2022):
STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis.
In: Journal of Allergy and Clinical Immunology, Bd. 150, Nr. 4: S. 931-946
Gothe, Florian; Hatton, Catherine F.; Truong, Linh; Klimova, Zofia; Kanderova, Veronika; Fejtkova, Martina; Grainger, Angela; Bigley, Venetia; Perthen, Joanna; Mitra, Dipayan; Janda, Ales; Fronkova, Eva; Moravcikova, Dusana; Hambleton, Sophie und Duncan, Christopher J. A.
(2021):
A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis.
In: Clinical Infectious Diseases, Bd. 74, Nr. 1: S. 136-139
Gothe, Florian; Howarth, Sophie; Duncan, Christopher J. A. und Hambleton, Sophie
(2021):
Monogenic susceptibility to live viral vaccines.
In: Current Opinion in Immunology, Bd. 72: S. 199-207
Hatton, Catherine F.; Botting, Rachel A.; Duenas, Maria Emilia; Haq, Iram J.; Verdon, Bernard; Thompson, Benjamin J.; Spegarova, Jarmila Stremenova; Gothe, Florian; Stephenson, Emily; Gardner, Aaron I.; Murphy, Sandra; Scott, Jonathan; Garnett, James P.; Carrie, Sean; Powell, Jason; Khan, C. M. Anjam; Huang, Lei; Hussain, Rafiqul; Coxhead, Jonathan; Davey, Tracey; Simpson, A. John; Haniffa, Muzlifah; Hambleton, Sophie; Brodlie, Malcolm; Ward, Chris; Trost, Matthias; Reynolds, Gary und Duncan, Christopher J. A.
(2021):
Delayed induction of type I and III interferons mediates nasal epithelial cell permissiveness to SARS-CoV-2.
In: Nature Communications, Bd. 12, Nr. 1, 7092
Keller, Baerbel; Strohmeier, Valentina; Harder, Ina; Unger, Susanne; Payne, Kathryn J.; Andrieux, Geoffroy; Boerries, Melanie; Felixberger, Peter Tobias; Landry, Jonathan J. M.; Nieters, Alexandra; Rensing-Ehl, Anne; Salzer, Ulrich; Frede, Natalie; Usadel, Susanne; Elling, Roland; Speckmann, Carsten; Hainmann, Ina; Ralph, Elizabeth; Gilmour, Kimberly; Wentink, Marjolein W. J.; Burg, Mirjam van der; Kuehn, Hye Sun; Rosenzweig, Sergio D.; Kolsch, Uwe; Bernuth, Horst von; Kaiser-Labusch, Petra; Gothe, Florian; Hambleton, Sophie; Daniel Vlagea, Alexandru; Garcia Garcia, Ana; Alsina, Laia; Markelj, Gasper; Avcin, Tadej; Vasconcelos, Julia; Guedes, Margarida; Ding, Jing-Ya; Ku, Cheng-Lung; Shadur, Bella; Avery, Danielle T.; Venhoff, Nils; Thiel, Jens; Becker, Heiko; Erazo-Borras, Lucia; Milena Trujillo-Vargas, Claudia; Luis Franco, Jose; Fieschi, Claire; Okada, Satoshi; Gray, Paul E.; Uzel, Gulbu; Casanova, Jean-Laurent; Fliegauf, Manfred; Grimbacher, Bodo; Eibel, Hermann; Ehl, Stephan; Voll, Reinhard E.; Rizzi, Marta; Stepensky, Polina; Benes, Vladimir; Ma, Cindy S.; Bossen, Claudia; Tangye, Stuart G. und Warnatz, Klaus
(2021):
The expansion of human T-bet(high)CD21(low) B cells is T cell dependent.
In: Science Immunology, Bd. 6, Nr. 64, eabh0891
Ouahed, Jodie; Kelsen, Judith R.; Spessott, Waldo A.; Kooshesh, Kameron; Sanmillan, Maria L.; Dawany, Noor; Sullivan, Kathleen E.; Hamilton, Kathryn E.; Slowik, Voytek; Nejentsev, Sergey; Neves, Joao Farela; Flores, Helena; Chung, Wendy K.; Wilson, Ashley; Anyane-Yeboa, Kwame; Wou, Karen; Jain, Preti; Field, Michael; Tollefson, Sophia; Dent, Maiah H.; Li, Dalin; Naito, Takeo; McGovern, Dermot P. B.; Kwong, Andrew C.; Taliaferro, Faith; Ordovas-Montanes, Jose; Horwitz, Bruce H.; Kotlarz, Daniel; Klein, Christoph; Evans, Jonathan; Dorsey, Jill; Warner, Neil; Elkadri, Abdul; Muise, Aleixo M.; Goldsmith, Jeffrey; Thompson, Benjamin; Engelhardt, Karin R.; Cant, Andrew J.; Hambleton, Sophie; Barclay, Andrew; Toth-Petroczy, Agnes; Vuzman, Dana; Carmichael, Nikkola; Bodea, Corneliu; Cassa, Christopher A.; Devoto, Marcella; Maas, Richard L.; Behrens, Edward M.; Giraudo, Claudio G. und Snapper, Scott B.
(2021):
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
In: Journal of Crohns & Colitis, Bd. 15, Nr. 11: S. 1908-1919
Stephenson, Emily; Reynolds, Gary; Botting, Rachel A.; Calero-Nieto, Fernando J.; Morgan, Michael D.; Tuong, Zewen Kelvin; Bach, Karsten; Sungnak, Waradon; Worlock, Kaylee B.; Yoshida, Masahiro; Kumasaka, Natsuhiko; Kania, Katarzyna; Engelbert, Justin; Olabi, Bayan; Spegarova, Jarmila Stremenova; Wilson, Nicola K.; Mende, Nicole; Jardine, Laura; Gardner, Louis C. S.; Goh, Issac; Horsfall, Dave; McGrath, Jim; Webb, Simone; Mather, Michael W.; Lindeboom, Rik G. H.; Dann, Emma; Huang, Ni; Polanski, Krzysztof; Prigmore, Elena; Gothe, Florian; Scott, Jonathan; Payne, Rebecca P.; Baker, Kenneth F.; Hanrath, Aidan T.; Schim van der Loeff, Ina C. D.; Barr, Andrew S.; Sanchez-Gonzalez, Amada; Bergamaschi, Laura; Mescia, Federica; Barnes, Josephine L.; Kilich, Eliz; Wilton, Angus de; Saigal, Anita; Saleh, Aarash; Janes, Sam M.; Smith, Claire M.; Gopee, Nusayhah; Wilson, Caroline; Coupland, Paul; Coxhead, Jonathan M.; Kiselev, Vladimir Yu; Dongen, Stijn van; Bacardit, Jaume; King, Hamish W.; Rostron, Anthony J.; Simpson, A. John; Hambleton, Sophie; Laurenti, Elisa; Lyons, Paul A.; Meyer, Kerstin B.; Nikolic, Marko Z.; Duncan, Christopher J. A.; Smith, Kenneth G. C.; Teichmann, Sarah A.; Clatworthy, Menna R.; Marioni, John C.; Gottgens, Berthold und Haniffa, Muzlifah
(2021):
Single-cell multi-omics analysis of the immune response in COVID-19.
In: Nature Medicine, Bd. 27, Nr. 5: S. 904-916
Wang, Lin; Aschenbrenner, Dominik; Zeng, Zhiyang; Cao, Xiya; Mayr, Daniel; Mehta, Meera; Capitani, Melania; Warner, Neil; Pan, Jie; Wang, Liren; Li, Qi; Zuo, Tao; Cohen-Kedar, Sarit; Lu, Jiawei; Ardy, Rico Chandra; Mulder, Daniel J.; Dissanayake, Dilan; Peng, Kaiyue; Huang, Zhiheng; Li, Xiaoqin; Wang, Yuesheng; Wang, Xiaobing; Li, Shuchao; Bullers, Samuel; Gammage, Anis N.; Warnatz, Klaus; Schiefer, Ana-Iris; Krivan, Gergely; Goda, Vera; Kahr, Walter H. A.; Lemaire, Mathieu; Lu, Chien-Yi; Siddiqui, Iram; Surette, Michael G.; Kotlarz, Daniel; Engelhardt, Karin R.; Griffin, Helen R.; Rottapel, Robert; Decaluwe, Helene; Laxer, Ronald M.; Proietti, Michele; Hambleton, Sophie; Elcombe, Suzanne; Guo, Cong-Hui; Grimbacher, Bodo; Dotan, Iris; Ng, Siew C.; Freeman, Spencer A.; Snapper, Scott B.; Klein, Christoph; Boztug, Kaan; Huang, Ying; Li, Dali; Uhlig, Holm H. und Muise, Aleixo M.
(2021):
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
In: Nature Genetics, Bd. 53, Nr. 4: S. 500-510
Duncan, Christopher J. A.; Thompson, Benjamin J.; Chen, Rui; Rice, Gillian; Gothe, Florian; Young, Dan F.; Lovell, Simon C.; Shuttleworth, Victoria G.; Brocklebank, Vicky; Corner, Bronte; Skelton, Andrew J.; Bondet, Vincent; Coxhead, Jonathan; Duffy, Darragh; Fourrage, Cecile; Livingston, John H.; Pavaine, Julija; Cheesman, Edmund; Bitetti, Stephania; Grainger, Angela; Acres, Meghan; Innes, Barbara A.; Mikulasova, Aneta; Sun, Ruyue; Hussain, Rafiqul; Wright, Ronnie; Wynn, Robert; Zarhrate, Mohammed; Zeef, Leo A. H.; Wood, Katrina; Hughes, Stephen M.; Harris, Claire L.; Engelhardt, Karin R.; Crow, Yanick J.; Randall, Richard E.; Kavanagh, David; Hambleton, Sophie und Briggs, Tracy A.
(2019):
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.
In: Science Immunology, Bd. 4, Nr. 42, eaav7501
Zhang, Zinan; Gothe, Florian; Pennamen, Perrine; James, John R.; McDonald, David; Mata, Carlos P.; Modis, Yorgo; Alazami, Anas M.; Acres, Meghan; Haller, Wolfram; Bowen, Claire; Doffinger, Rainer; Sinclair, Jan; Brothers, Shannon; Zhang, Yu; Matthews, Helen F.; Naudion, Sophie; Pelluard, Fanny; Alajlan, Huda; Yamazaki, Yasuhiro; Notarangelo, Luigi D.; Thaventhiran, James E.; Engelhardt, Karin R.; Al-Mousa, Hamoud; Hambleton, Sophie; Rooryck, Caroline; Smith, Kenneth G. C. und Lenardo, Michael J.
(2019):
Human interleukin-2 receptor beta mutations associated with defects in immunity and peripheral tolerance.
In: Journal of Experimental Medicine, Bd. 216, Nr. 6: S. 1311-1327
Schwab, Charlotte; Gabrysch, Annemarie; Olbrich, Peter; Patino, Virginia; Warnatz, Klaus; Wolff, Daniel; Hoshino, Akihiro; Kobayashi, Masao; Imai, Kohsuke; Takagi, Masatoshi; Dybedal, Ingunn; Haddock, Jamanda A.; Sansom, David M.; Lucena, Jose M.; Seidl, Maximilian; Schmitt-Graeff, Annette; Reiser, Veronika; Emmerich, Florian; Frede, Natalie; Bulashevska, Alla; Salzer, Ulrich; Schubert, Desiree; Hayakawa, Seiichi; Okada, Satoshi; Kanariou, Maria; Kucuk, Zeynep Yesim; Chapdelaine, Hugo; Petruzelkova, Lenka; Sumnik, Zdenek; Sediva, Anna; Slatter, Mary; Arkwright, Peter D.; Cant, Andrew; Lorenz, Hanns-Martin; Giese, Thomas; Lougaris, Vassilios; Plebani, Alessandro; Price, Christina; Sullivan, Kathleen E.; Moutschen, Michel; Litzman, Jiri; Freiberger, Tomas; Veerdonk, Frank L. van de; Recher, Mike; Albert, Michael H.; Hauck, Fabian; Seneviratne, Suranjith; Schmid, Jana Pachlopnik; Kolios, Antonios; Unglik, Gary; Klemann, Christian; Speckmann, Carsten; Ehl, Stephan; Leichtner, Alan; Blumberg, Richard; Franke, Andre; Snapper, Scott; Zeissig, Sebastian; Cunningham-Rundles, Charlotte; Giulino-Roth, Lisa; Elemento, Olivier; Dueckers, Gregor; Niehues, Tim; Fronkova, Eva; Kanderova, Veronika; Platt, Craig D.; Chou, Janet; Chatila, Talal A.; Geha, Raif; McDermott, Elizabeth; Bunn, Su; Kurzai, Monika; Schulz, Ansgar; Alsina, Laia; Casals, Ferran; Deya-Martinez, Angela; Hambleton, Sophie; Kanegane, Hirokazu; Tasken, Kjetil; Neth, Olaf und Grimbacher, Bodo
(2018):
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.
In: Journal of Allergy and Clinical Immunology, Bd. 142, Nr. 6: S. 1932-1946
Speckmann, Carsten; Doerken, Sam; Aiuti, Alessandro; Albert, Michael H.; Al-Herz, Waleed; Allende, Luis M.; Scarselli, Alessia; Avcin, Tadej; Perez-Becker, Ruy; Cancrini, Caterina; Cant, Andrew; Cesare, Silvia di; Finocchi, Andrea; Fischer, Alain; Gaspar, H. Bobby; Ghosh, Sujal; Gennery, Andrew; Gilmour, Kimberly; Gonzalez-Granado, Luis I.; Martinez-Gallo, Monica; Hambleton, Sophie; Hauck, Fabian; Hoenig, Manfred; Moshous, Despina; Neven, Benedicte; Niehues, Tim; Notarangelo, Luigi; Picard, Capucine; Rieber, Nikolaus; Schulz, Ansgar; Schwarz, Klaus; Seidel, Markus G.; Soler-Palacin, Pere; Stepensky, Polina; Strahm, Brigitte; Vraetz, Thomas; Warnatz, Klaus; Winterhalter, Christine; Worth, Austen; Fuchs, Sebastian; Uhlmann, Annette und Ehl, Stephan
(2017):
A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.
In: Journal of Allergy and Clinical Immunology, Bd. 139, Nr. 4: S. 1302-1310