Fabian H Hauck (Fabian Hauck)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 51

Top Topics

Intellectual Disability

Immune Response

Top Venues

The Journal of experimental medicine

Nature genetics

Science immunology

This page only lists publications with an associated author ORCID identifier.

Publications

Hyoungjun Ham, Huie Jing, Ian T Lamborn, Megan M Kober, Alexey Koval, Yamina A Berchiche, D Eric Anderson, Kirk M Druey, Judith N Mandl, Bertrand Isidor, Carlos R Ferreira, Alexandra F Freeman, Sundar Ganesan, Meliha Karsak, Peter J Mustillo, Juliana Teo, Zarazuela Zolkipli-Cunningham, Nicolas Chatron, Francois Lecoquierre, Andrew J Oler, Jana Pachlopnik Schmid, Douglas B Kuhns, Xuehua Xu, Fabian H Hauck, Waleed Al Herz, Matias Wagner, Paulien Anna Terhal, Mari Muurinen, Vincent Barlogis, Phillip Cruz, Jeffrey Danielson, Helen Stewart, Petra Loid, Sebastian Rading, Boris Keren, Rolph Pfundt, Kol A Zarember, Katharina Vill, Lorraine Potocki, Kenneth N Olivier, Gaëtan Lesca, Laurence Olivier-Faivre, Melanie Wong, Anne Puel, Janet Chou, Maud Tusseau, Niki M Moutsopoulos, Helen F Matthews, Cas Simons, Ryan J Taft, Ariane G Soldatos, Etienne Masle-Farquhar, Stefania Pittaluga, Robert Brink, Danielle L Fink, Heidi H Kong, Juraj Kabat, Woo Sung Kim, Tatjana Bierhals, Kazuyuki Meguro, Amy P Hsu, Jingwen Gu, Jennifer Stoddard, Benito Banos-Pinero, Maria Slack, Giampaolo Trivellin, Benoit Mazel, Maarja Soomann, Samuel Li, Val J Watts, Constantine A Stratakis, Maria F Rodriguez-Quevedo, Ange-Line Bruel, Marita Lipsanen-Nyman, Paul Saultier, Rashmi Jain, Daphne Lehalle, Daniel Torres, Kathleen E Sullivan, Sébastien Barbarot, Axel Neu, Yannis Duffourd, Morgan N Similuk, Kirsty McWalter, Pierre Blanc, Stephane Bezieau, Tian Jin, Raif S Geha, Jean Laurent Casanova, Outimaija Mäkitie, Christian Kubisch, Patrick Edery, John Chrisodoulou, Ronald N Germain, Christopher C Goodnow, Thomas P Sakmar, Daniel D Billadeau, Sébastien Küry, Vladimir L Katanaev, Yu Zhang, Michael J Lenardo, Helen C Su
Germline mutations in a G protein identify signaling cross-talk in T cells. Science (New York, N.Y.) 385 (6715) (2024)
Harshita Mishra, Claire Schlack-Leigers, Ee Lyn Lim, Oliver Thieck, Thomas Magg, Johannes Raedler, Christine Wolf, Christoph Klein, Helge Ewers, Min Ae Lee-Kirsch, David Meierhofer, Fabian H Hauck, Olivia Majer
Disrupted degradative sorting of TLR7 is associated with human lupus. Science immunology (2024)
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Lisa Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schuelke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C Betz, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Isabel Spier, André Heimbach, Tim Bender, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin Sebastian Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Nasir Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva Maria Christina Schwaibold, Christian P Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M Okun, Urania Kotzaeridou, Georg F Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje G Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik Sebastian Westphal, Tim Strom, Reka Kovacs, Korbinian Maria Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Katharina Vill, Fabian H Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Ernest Turro, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Maria Nöthen, Olaf H Rieß, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias B Haack, Nadja Ehmke, Matias Wagner
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature genetics (2024)
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Lisa Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schuelke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C Betz, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Isabel Spier, André Heimbach, Tim Bender, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin Sebastian Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Nasir Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva Maria Christina Schwaibold, Christian P Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M Okun, Urania Kotzaeridou, Georg F Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje G Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik Sebastian Westphal, Tim Strom, Reka Kovacs, Korbinian Maria Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Katharina Vill, Fabian H Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Ernest Turro, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Maria Nöthen, Olaf H Rieß, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias B Haack, Nadja Ehmke, Matias Wagner
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature genetics 56 (8) (2024)
Ágnes Donkó, Svetlana O Sharapova, Juraj Kabat, Sundar Ganesan, Fabian H Hauck, Jenna R E Bergerson, Louis Marois, Jordan K Abbott, Despina Moshous, Kelli Wong Williams, Nicholas Campbell, Paul L Martin, Chantal Lagresle-Peyrou, Timothy Trojan, Natalia B Kuzmenko, Ekaterina A Deordieva, Elena V Raykina, Michael S Abers, Hassan Abolhassani, Vincent Barlogis, Carlos Carlos Milla Milla, Geoffrey Hall, Talal Mousallem, Joseph Church, Neena Kapoor, Guilhem Cros, Hugo Chapdelaine, Clara Franco-Jarava, Ingrid Lopez-Lerma, Maurizio Miano, Jennifer W Leiding, Christoph Klein, Marie José Stasia, Alain Fischer, Kuang-Chih Hsiao, Timi Martelius, Mikko R J Sepännen, Sara Barmettler, Jolan Eszter Walter, Tania Nicole Masmas, Anna A Mukhina, Emilia Liana Falcone, Sven Kracker, Anna Shcherbina, Steven M Holland, Thomas L Leto, Amy P Hsu
Clinical and functional spectrum of RAC2-related immunodeficiency. Blood 143 (15) (2024)
Harshita Mishra, Claire Schlack-Leigers, Ee Lyn Lim, Oliver Thieck, Thomas Magg, Johannes Raedler, Christine Wolf, Christoph Klein, Helge Ewers, Min Ae Lee-Kirsch, David Meierhofer, Fabian H Hauck, Olivia Majer
Disrupted degradative sorting of TLR7 is associated with human lupus. Science immunology 9 (92) (2024)
Agnes Donkó, Svetlana O Sharapova, Juraj Kabat, Sundar Ganesan, Fabian H Hauck, Louis Marois, Jordan K Abbott, Despina Moshous, Kelli Wong Williams, Nicholas Campbell, Paul L Martin, Chantal Lagresle-Peyrou, Timothy David Trojan, Natalia Kuzmenko, Ekaterina A Deordieva, Elena Raykina, Michael S Abers, Hassan Abolhassani, Vincent Barlogis, Carlos Carlos Milla Milla, Geoffrey Hall, Talal Mousallem, Joseph A Church, Neena Kapoor, Guilhem Cros, Hugo Chapdelaine, Clara Franco-Jarava, Ingrid Lopez-Lerma, Maurizio Miano, Jennifer W Leiding, Christoph Klein, Marie José Stasia, Alain Fischer, Kuang-Chih Hsiao, Timi Martelius, Mikko R J Sepännen, Sara Barmettler, Jolan Eszter Walter, Tania Nicole Masmas, Anna A Mukhina, Emilia Liana Falcone, Sven Kracker, Anna Shcherbina, Steven M Holland, Thomas L Leto, Amy P Hsu
Clinical and functional spectrum of RAC2-related immunodeficiency. Blood (2024)
Domnica Luca, Sumin Lee, Keiji Hirota, Yasutaka Okabe, Junji Uehori, Kazushi Izawa, Anna-Lisa Lanz, Verena Schütte, Burcu Sivri, Yuta Tsukamoto, Fabian H Hauck, Rayk Behrendt, Axel Roers, Takashi Fujita, Ryuta Nishikomori, Min Ae Lee-Kirsch, Hiroki Kato
Aberrant RNA sensing in regulatory T cells causes systemic autoimmunity. Science advances 10 (9) (2024)
Ágnes Donkó, Svetlana O Sharapova, Juraj Kabat, Sundar Ganesan, Fabian H Hauck, Jenna R E Bergerson, Louis Marois, Jordan K Abbott, Despina Moshous, Kelli Wong Williams, Nicholas Campbell, Paul L Martin, Chantal Lagresle-Peyrou, Timothy Trojan, Natalia B Kuzmenko, Ekaterina A Deordieva, Elena V Raykina, Michael S Abers, Hassan Abolhassani, Vincent Barlogis, Carlos Carlos Milla Milla, Geoffrey Hall, Talal Mousallem, Joseph Church, Neena Kapoor, Guilhem Cros, Hugo Chapdelaine, Clara Franco-Jarava, Ingrid Lopez-Lerma, Maurizio Miano, Jennifer W Leiding, Christoph Klein, Marie José Stasia, Alain Fischer, Kuang-Chih Hsiao, Timi Martelius, Mikko R J Sepännen, Sara Barmettler, Jolan Eszter Walter, Tania Nicole Masmas, Anna A Mukhina, Emilia Liana Falcone, Sven Kracker, Anna Shcherbina, Steven M Holland, Thomas L Leto, Amy P Hsu
Clinical and functional spectrum of RAC2-related immunodeficiency. Blood 143 (15) (2024)
Domnica Luca, Sumin Lee, Keiji Hirota, Yasutaka Okabe, Junji Uehori, Kazushi Izawa, Anna-Lisa Lanz, Verena Schütte, Burcu Sivri, Yuta Tsukamoto, Fabian H Hauck, Rayk Behrendt, Axel Roers, Takashi Fujita, Ryuta Nishikomori, Min Ae Lee-Kirsch, Hiroki Kato
Aberrant RNA sensing in regulatory T cells causes systemic autoimmunity. Science advances 10 (9) (2024)
Ágnes Donkó, Svetlana O Sharapova, Juraj Kabat, Sundar Ganesan, Fabian H Hauck, Jenna R E Bergerson, Louis Marois, Jordan K Abbott, Despina Moshous, Kelli Wong Williams, Nicholas Campbell, Paul L Martin, Chantal Lagresle-Peyrou, Timothy Trojan, Natalia B Kuzmenko, Ekaterina A Deordieva, Elena V Raykina, Michael S Abers, Hassan Abolhassani, Vincent Barlogis, Carlos Carlos Milla Milla, Geoffrey Hall, Talal Mousallem, Joseph Church, Neena Kapoor, Guilhem Cros, Hugo Chapdelaine, Clara Franco-Jarava, Ingrid Lopez-Lerma, Maurizio Miano, Jennifer W Leiding, Christoph Klein, Marie José Stasia, Alain Fischer, Kuang-Chih Hsiao, Timi Martelius, Mikko R J Sepännen, Sara Barmettler, Jolan Eszter Walter, Tania Nicole Masmas, Anna A Mukhina, Emilia Liana Falcone, Sven Kracker, Anna Shcherbina, Steven M Holland, Thomas L Leto, Amy P Hsu
Clinical and functional spectrum of RAC2-related immunodeficiency. Blood 143 (15) (2024)
Ágnes Donkó, Svetlana O Sharapova, Juraj Kabat, Sundar Ganesan, Fabian H Hauck, Jenna R E Bergerson, Louis Marois, Jordan K Abbott, Despina Moshous, Kelli Wong Williams, Nicholas Campbell, Paul L Martin, Chantal Lagresle-Peyrou, Timothy Trojan, Natalia B Kuzmenko, Ekaterina A Deordieva, Elena V Raykina, Michael S Abers, Hassan Abolhassani, Vincent Barlogis, Carlos Carlos Milla Milla, Geoffrey Hall, Talal Mousallem, Joseph Church, Neena Kapoor, Guilhem Cros, Hugo Chapdelaine, Clara Franco-Jarava, Ingrid Lopez-Lerma, Maurizio Miano, Jennifer W Leiding, Christoph Klein, Marie José Stasia, Alain Fischer, Kuang-Chih Hsiao, Timi Martelius, Mikko R J Sepännen, Sara Barmettler, Jolan Eszter Walter, Tania Nicole Masmas, Anna A Mukhina, Emilia Liana Falcone, Sven Kracker, Anna Shcherbina, Steven M Holland, Thomas L Leto, Amy P Hsu
Clinical and functional spectrum of RAC2-related immunodeficiency. Blood 143 (15) (2024)
Agnes Donkó, Svetlana O Sharapova, Juraj Kabat, Sundar Ganesan, Fabian H Hauck, Louis Marois, Jordan K Abbott, Despina Moshous, Kelli Wong Williams, Nicholas Campbell, Paul L Martin, Chantal Lagresle-Peyrou, Timothy David Trojan, Natalia Kuzmenko, Ekaterina A Deordieva, Elena Raykina, Michael S Abers, Hassan Abolhassani, Vincent Barlogis, Carlos Carlos Milla Milla, Geoffrey Hall, Talal Mousallem, Joseph A Church, Neena Kapoor, Guilhem Cros, Hugo Chapdelaine, Clara Franco-Jarava, Ingrid Lopez-Lerma, Maurizio Miano, Jennifer W Leiding, Christoph Klein, Marie José Stasia, Alain Fischer, Kuang-Chih Hsiao, Timi Martelius, Mikko R J Sepännen, Sara Barmettler, Jolan Eszter Walter, Tania Nicole Masmas, Anna A Mukhina, Emilia Liana Falcone, Sven Kracker, Anna Shcherbina, Steven M Holland, Thomas L Leto, Amy P Hsu
Clinical and functional spectrum of RAC2-related immunodeficiency. Blood (2024)
Domnica Luca, Sumin Lee, Keiji Hirota, Yasutaka Okabe, Junji Uehori, Kazushi Izawa, Anna-Lisa Lanz, Verena Schütte, Burcu Sivri, Yuta Tsukamoto, Fabian H Hauck, Rayk Behrendt, Axel Roers, Takashi Fujita, Ryuta Nishikomori, Min Ae Lee-Kirsch, Hiroki Kato
Aberrant RNA sensing in regulatory T cells causes systemic autoimmunity. Science advances 10 (9) (2024)
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Lisa Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schuelke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C Betz, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Isabel Spier, André Heimbach, Tim Bender, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin Sebastian Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Nasir Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva Maria Christina Schwaibold, Christian P Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M Okun, Urania Kotzaeridou, Georg F Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje G Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik Sebastian Westphal, Tim Strom, Reka Kovacs, Korbinian Maria Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Katharina Vill, Fabian H Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Ernest Turro, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Maria Nöthen, Olaf H Rieß, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias B Haack, Nadja Ehmke, Matias Wagner
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature genetics 56 (8) (2024)
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Lisa Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schuelke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C Betz, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Isabel Spier, André Heimbach, Tim Bender, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin Sebastian Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Nasir Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva Maria Christina Schwaibold, Christian P Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M Okun, Urania Kotzaeridou, Georg F Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje G Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik Sebastian Westphal, Tim Strom, Reka Kovacs, Korbinian Maria Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Katharina Vill, Fabian H Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Ernest Turro, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Maria Nöthen, Olaf H Rieß, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias B Haack, Nadja Ehmke, Matias Wagner
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature genetics 56 (8) (2024)
Harshita Mishra, Claire Schlack-Leigers, Ee Lyn Lim, Oliver Thieck, Thomas Magg, Johannes Raedler, Christine Wolf, Christoph Klein, Helge Ewers, Min Ae Lee-Kirsch, David Meierhofer, Fabian H Hauck, Olivia Majer
Disrupted degradative sorting of TLR7 is associated with human lupus. Science immunology 9 (92) (2024)
Ágnes Donkó, Svetlana O Sharapova, Juraj Kabat, Sundar Ganesan, Fabian H Hauck, Jenna R E Bergerson, Louis Marois, Jordan K Abbott, Despina Moshous, Kelli Wong Williams, Nicholas Campbell, Paul L Martin, Chantal Lagresle-Peyrou, Timothy Trojan, Natalia B Kuzmenko, Ekaterina A Deordieva, Elena V Raykina, Michael S Abers, Hassan Abolhassani, Vincent Barlogis, Carlos Carlos Milla Milla, Geoffrey Hall, Talal Mousallem, Joseph Church, Neena Kapoor, Guilhem Cros, Hugo Chapdelaine, Clara Franco-Jarava, Ingrid Lopez-Lerma, Maurizio Miano, Jennifer W Leiding, Christoph Klein, Marie José Stasia, Alain Fischer, Kuang-Chih Hsiao, Timi Martelius, Mikko R J Sepännen, Sara Barmettler, Jolan Eszter Walter, Tania Nicole Masmas, Anna A Mukhina, Emilia Liana Falcone, Sven Kracker, Anna Shcherbina, Steven M Holland, Thomas L Leto, Amy P Hsu
Clinical and functional spectrum of RAC2-related immunodeficiency. Blood 143 (15) (2024)
Agnes Donkó, Svetlana O Sharapova, Juraj Kabat, Sundar Ganesan, Fabian H Hauck, Louis Marois, Jordan K Abbott, Despina Moshous, Kelli Wong Williams, Nicholas Campbell, Paul L Martin, Chantal Lagresle-Peyrou, Timothy David Trojan, Natalia Kuzmenko, Ekaterina A Deordieva, Elena Raykina, Michael S Abers, Hassan Abolhassani, Vincent Barlogis, Carlos Carlos Milla Milla, Geoffrey Hall, Talal Mousallem, Joseph A Church, Neena Kapoor, Guilhem Cros, Hugo Chapdelaine, Clara Franco-Jarava, Ingrid Lopez-Lerma, Maurizio Miano, Jennifer W Leiding, Christoph Klein, Stasia Marie José, Alain Fischer, Kuang-Chih Hsiao, Timi Martelius, Mikko R J Sepännen, Sara Barmettler, Jolan Eszter Walter, Tania Nicole Masmas, Anna A Mukhina, Emilia Liana Falcone, Sven Kracker, Anna Shcherbina, Steven M Holland, Thomas L Leto, Amy P Hsu
Clinical and functional spectrum of RAC2-related immunodeficiency. Blood (2024)
Corinna Grasemann, Jakob Hoeppner, Peter Burgard, Michael M Schündeln, Nora Matar, Gabriele Müller, Heiko Krude, Reinhard Berner, Min Ae Lee-Kirsch, Fabian H Hauck, Kerstin Wainwright, Sylvana Baumgarten, Janet Atinga, Jens J Bauer, Eva Manka, Julia Körholz, Cordula Kiewert, André Heinen, Tanita Kretschmer, Tobias Kurth, Janna Mittnacht, Christoph Schramm, Christoph Klein, Holm Graessner, Olaf Hiort, Ania C Muntau, Annette Grüters, Georg Friedrich Hoffmann, Daniela Choukair
Transition for adolescents with a rare disease: results of a nationwide German project. Orphanet journal of rare diseases 18 (1) (2023)
Carsten Speckmann, Uta Nennstiel, Manfred Hönig, Michael H Albert, Sujal Ghosh, Catharina Schuetz, Inken Brockow, Friederike Hörster, Tim Niehues, Stephan Ehl, Volker Wahn, Stephan Borte, Kai Lehmberg, Ulrich Baumann, Rita Beier, Renate Krüger, Shahrzad Bakhtiar, Joern-Sven Kuehl, Christian Klemann, Udo Kontny, Ursula Holzer, Andrea Meinhardt, Henner Morbach, Nora Naumann-Bartsch, Tobias Rothoeft, Alexandra Y Kreins, E Graham Davies, Dominik T Schneider, Horst V Bernuth, Thomas Klingebiel, Georg F Hoffmann, Ansgar Schulz, Fabian H Hauck
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API). Journal of clinical immunology (2023)
Ana Garcia Garcia, Rebeca Perez de Diego, Carlos Flores, Darawan Rinchai, Jordi Solé-Violán, Àngela Deyà-Martínez, Blanca García-Solis, Jose Miguel Lorenzo-Salazar, Elisa Hernández-Brito, Anna-Lisa Lanz, Leen Moens, Giorgia Bucciol, Mohamed Almuqamam, Joseph B Domachowske, Elena Colino, Juan Luis Santos-Perez, Francisco M Marco, Claudio Pignata, Ahmed Aziz Bousfiha, Suzanne C Tough, Stefanie Bauer, Filomeen Haerynck, Javier Gonzalo Ocejo-Vinyals, Francisco Lendínez, Seraina Prader, Nora Naumann-Bartsch, Jana Pachlopnik Schmid, Catherine M Biggs, Kyla Hildebrand, Alexandra Dreesman, Miguel Ángel Cárdenes, Fatima Ailal, Ibtihal Benhsaien, Giuliana Giardino, Agueda Molina-Fuentes, Clàudia Fortuny, Swetha Madhavarapu, Daniel H Conway, Carolina Prando, Laire Schidlowski, María Teresa Martínez de Saavedra Álvarez, Rafael Alfaro, Felipe Rodríguez de Castro, null null, null null, Isabelle Meyts, Fabian H Hauck, Anne Puel, Paul Bastard, Bertrand Boisson, Emmanuelle Jouanguy, Laurent Abel, Aurélie Cobat, Qian Zhang, Jean Laurent Casanova, Laia Alsina, Carlos Flores
Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia. The Journal of experimental medicine 220 (5) (2023)
Ana Garcia Garcia, Rebeca Perez de Diego, Carlos Flores, Darawan Rinchai, Jordi Solé-Violán, Àngela Deyà-Martínez, Blanca García-Solis, Jose Miguel Lorenzo-Salazar, Elisa Hernández-Brito, Anna-Lisa Lanz, Leen Moens, Giorgia Bucciol, Mohamed Almuqamam, Joseph B Domachowske, Elena Colino, Juan Luis Santos-Perez, Francisco M Marco, Claudio Pignata, Ahmed Aziz Bousfiha, Suzanne C Tough, Stefanie Bauer, Filomeen Haerynck, Javier Gonzalo Ocejo-Vinyals, Francisco Lendínez, Seraina Prader, Nora Naumann-Bartsch, Jana Pachlopnik Schmid, Catherine M Biggs, Kyla Hildebrand, Alexandra Dreesman, Miguel Ángel Cárdenes, Fatima Ailal, Ibtihal Benhsaien, Giuliana Giardino, Agueda Molina-Fuentes, Clàudia Fortuny, Swetha Madhavarapu, Daniel H Conway, Carolina Prando, Laire Schidlowski, María Teresa Martínez de Saavedra Álvarez, Rafael Alfaro, Felipe Rodríguez de Castro, null null, null null, Isabelle Meyts, Fabian H Hauck, Anne Puel, Paul Bastard, Bertrand Boisson, Emmanuelle Jouanguy, Laurent Abel, Aurélie Cobat, Qian Zhang, Jean Laurent Casanova, Laia Alsina, Carlos Flores
Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia. The Journal of experimental medicine 220 (5) (2023)
Corinna Grasemann, Jakob Hoeppner, Peter Burgard, Michael M Schündeln, Nora Matar, Gabriele Müller, Heiko Krude, Reinhard Berner, Min Ae Lee-Kirsch, Fabian H Hauck, Kerstin Wainwright, Sylvana Baumgarten, Janet Atinga, Jens J Bauer, Eva Manka, Julia Körholz, Cordula Kiewert, André Heinen, Tanita Kretschmer, Tobias Kurth, Janna Mittnacht, Christoph Schramm, Christoph Klein, Holm Graessner, Olaf Hiort, Ania C Muntau, Annette Grüters, Georg Friedrich Hoffmann, Daniela Choukair
Transition for adolescents with a rare disease: results of a nationwide German project. Orphanet journal of rare diseases 18 (1) (2023)
Xinyuan Wang, Huabin Zhang, Yuqin Wang, Laylan Bramasole, Kai Guo, Fatima Mourtada, Thomas Meul, Qianjiang Hu, Valeria Viteri, Ilona Kammerl, Melanie Konigshoff, Mareike Lehmann, Thomas Magg, Fabian H Hauck, Isis E Fernandez, Silke Meiners
DNA sensing via the cGAS/STING pathway activates the immunoproteasome and adaptive T-cell immunity. The EMBO journal (2023)
Tom Le Voyer, Audrey V Parent, Xian Liu, Axel Cederholm, Adrian Gervais, Jérémie Rosain, Tina Nguyen, Malena Perez Lorenzo, Elze Rackaityte, Darawan Rinchai, Peng Zhang, Lucy Bizien, Gonca Hancioglu, Pascale Ghillani-Dalbin, Jean-Luc Charuel, Quentin Philippot, Mame Sokhna Gueye, Majistor Raj Luxman Maglorius Renkilaraj, Masato Ogishi, Camille Soudée, Mélanie Migaud, Flore Rozenberg, Mana Momenilandi, Quentin Riller, Luisa Imberti, Ottavia M Delmonte, Gabriele Müller, Baerbel Keller, Julio Orrego, William Alexander Franco Gallego, Tamar Rubin, Melike Emiroğlu, Nima Parvaneh, Daniel Eriksson, Maribel Aranda-Guillén, David I Berrios, Linda Vong, Constance H Katelaris, Peter Mustillo, Johannes Raedler, Jonathan Bohlen, Jale Bengi Celik, Camila Astudillo, Sarah Winter, null null, null null, Catriona McLean, Aurélien Guffroy, Joseph L DeRisi, David Yu, Corey N Miller, Yi Feng, Audrey Guichard, Vivien Béziat, Jacinta Bustamante, Qiang Pan-Hammarström, Yu Zhang, Lindsey B Rosen, Steven M Holland, Marita Bosticardo, Heather Kenney, Riccardo Castagnoli, Charlotte A Slade, Kaan Boztuğ, Nizar Mahlaoui, Sylvain Latour, Roshini S Abraham, Vassilios Lougaris, Fabian H Hauck, Anna Šedivá, Faranaz Atschekzei, Georgios Sogkas, Maria Cecilia Poli, Mary A Slatter, Boaz Palterer, Michael D Keller, Alberto Pinzon-Charry, Anna Sullivan, Luke Droney, Daniel Suan, Melanie Wong, Alisa Kane, Hannah Hu, Cindy S Ma, Hana Grombiříková, Peter Ciznar, Ilan Dalal, Nathalie Aladjidi, Miguel Hie, Estibaliz Lazaro, Jose Luis Franco, Sevgi Keles, Marion Malphettes, Marlene Pasquet, Maria Elena Maccari, Andrea Meinhardt, Aydan Ikinciogullari, Mohammad Shahrooei, Fatih Celmeli, Patrick Frosk, Christopher C Goodnow, Paul E Gray, Alexandre Belot, Hye Sun Kuehn, Sergio D Rosenzweig, Makoto Miyara, Francesco Licciardi, Amélie Servettaz, Vincent Barlogis, Guillaume Le Guenno, Vera-Maria Herrmann, Taco Kuijpers, Grégoire Ducoux, Françoise Sarrot-Reynauld, Catharina Schuetz, Charlotte Cunningham-Rundles, Frédéric Rieux-Laucat, Stuart G Tangye, Cristina Sobacchi, Rainer Doffinger, Klaus Warnatz, Bodo Grimbacher, Claire Fieschi, Laureline Berteloot, Vanessa L Bryant, Sophie Trouillet Assant, Helen C Su, Benedicte Neven, Laurent Abel, Qian Zhang, Bertrand Boisson, Aurélie Cobat, Emmanuelle Jouanguy, Olle Kämpe, Paul Bastard, Chaim M Roifman, Nils Landegren, Luigi Daniele Notarangelo, Mark S Anderson, Jean Laurent Casanova, Anne Puel
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency. Nature (2023)
Corinna Grasemann, Jakob Hoeppner, Peter Burgard, Michael M Schündeln, Nora Matar, Gabriele Müller, Heiko Krude, Reinhard Berner, Min Ae Lee-Kirsch, Fabian H Hauck, Kerstin Wainwright, Sylvana Baumgarten, Janet Atinga, Jens J Bauer, Eva Manka, Julia Körholz, Cordula Kiewert, André Heinen, Tanita Kretschmer, Tobias Kurth, Janna Mittnacht, Christoph Schramm, Christoph Klein, Holm Graessner, Olaf Hiort, Ania C Muntau, Annette Grüters, Georg Friedrich Hoffmann, Daniela Choukair
Transition for adolescents with a rare disease: results of a nationwide German project. Orphanet journal of rare diseases 18 (1) (2023)
Ana Garcia Garcia, Rebeca Perez de Diego, Carlos Flores, Darawan Rinchai, Jordi Solé-Violán, Àngela Deyà-Martínez, Blanca García-Solis, Jose Miguel Lorenzo-Salazar, Elisa Hernández-Brito, Anna-Lisa Lanz, Leen Moens, Giorgia Bucciol, Mohamed Almuqamam, Joseph B Domachowske, Elena Colino, Juan Luis Santos-Perez, Francisco M Marco, Claudio Pignata, Ahmed Aziz Bousfiha, Suzanne C Tough, Stefanie Bauer, Filomeen Haerynck, Javier Gonzalo Ocejo-Vinyals, Francisco Lendínez, Seraina Prader, Nora Naumann-Bartsch, Jana Pachlopnik Schmid, Catherine M Biggs, Kyla Hildebrand, Alexandra Dreesman, Miguel Ángel Cárdenes, Fatima Ailal, Ibtihal Benhsaien, Giuliana Giardino, Agueda Molina-Fuentes, Clàudia Fortuny, Swetha Madhavarapu, Daniel H Conway, Carolina Prando, Laire Schidlowski, María Teresa Martínez de Saavedra Álvarez, Rafael Alfaro, Felipe Rodríguez de Castro, null null, null null, Isabelle Meyts, Fabian H Hauck, Anne Puel, Paul Bastard, Bertrand Boisson, Emmanuelle Jouanguy, Laurent Abel, Aurélie Cobat, Qian Zhang, Jean Laurent Casanova, Laia Alsina, Carlos Flores
Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia. The Journal of experimental medicine 220 (5) (2023)
Ana Garcia Garcia, Rebeca Perez de Diego, Carlos Flores, Darawan Rinchai, Jordi Solé-Violán, Àngela Deyà-Martínez, Blanca García-Solis, Jose Miguel Lorenzo-Salazar, Elisa Hernández-Brito, Anna-Lisa Lanz, Leen Moens, Giorgia Bucciol, Mohamed Almuqamam, Joseph B Domachowske, Elena Colino, Juan Luis Santos-Perez, Francisco M Marco, Claudio Pignata, Ahmed Aziz Bousfiha, Suzanne C Tough, Stefanie Bauer, Filomeen Haerynck, Javier Gonzalo Ocejo-Vinyals, Francisco Lendínez, Seraina Prader, Nora Naumann-Bartsch, Jana Pachlopnik Schmid, Catherine M Biggs, Kyla Hildebrand, Alexandra Dreesman, Miguel Ángel Cárdenes, Fatima Ailal, Ibtihal Benhsaien, Giuliana Giardino, Agueda Molina-Fuentes, Clàudia Fortuny, Swetha Madhavarapu, Daniel H Conway, Carolina Prando, Laire Schidlowski, María Teresa Martínez de Saavedra Álvarez, Rafael Alfaro, Felipe Rodríguez de Castro, null null, null null, Isabelle Meyts, Fabian H Hauck, Anne Puel, Paul Bastard, Bertrand Boisson, Emmanuelle Jouanguy, Laurent Abel, Aurélie Cobat, Qian Zhang, Jean Laurent Casanova, Laia Alsina, Carlos Flores
Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia. The Journal of experimental medicine 220 (5) (2023)
Carsten Speckmann, Uta Nennstiel, Manfred Hönig, Michael H Albert, Sujal Ghosh, Catharina Schuetz, Inken Brockow, Friederike Hörster, Tim Niehues, Stephan Ehl, Volker Wahn, Stephan Borte, Kai Lehmberg, Ulrich Baumann, Rita Beier, Renate Krüger, Shahrzad Bakhtiar, Joern-Sven Kuehl, Christian Klemann, Udo Kontny, Ursula Holzer, Andrea Meinhardt, Henner Morbach, Nora Naumann-Bartsch, Tobias Rothoeft, Alexandra Y Kreins, E Graham Davies, Dominik T Schneider, Horst V Bernuth, Thomas Klingebiel, Georg F Hoffmann, Ansgar Schulz, Fabian H Hauck
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API). Journal of clinical immunology (2023)
Ana Garcia Garcia, Rebeca Perez de Diego, Carlos Flores, Darawan Rinchai, Jordi Solé-Violán, Àngela Deyà-Martínez, Blanca García-Solis, Jose Miguel Lorenzo-Salazar, Elisa Hernández-Brito, Anna-Lisa Lanz, Leen Moens, Giorgia Bucciol, Mohamed Almuqamam, Joseph B Domachowske, Elena Colino, Juan Luis Santos-Perez, Francisco M Marco, Claudio Pignata, Ahmed Aziz Bousfiha, Suzanne C Tough, Stefanie Bauer, Filomeen Haerynck, Javier Gonzalo Ocejo-Vinyals, Francisco Lendínez, Seraina Prader, Nora Naumann-Bartsch, Jana Pachlopnik Schmid, Catherine M Biggs, Kyla Hildebrand, Alexandra Dreesman, Miguel Ángel Cárdenes, Fatima Ailal, Ibtihal Benhsaien, Giuliana Giardino, Agueda Molina-Fuentes, Clàudia Fortuny, Swetha Madhavarapu, Daniel H Conway, Carolina Prando, Laire Schidlowski, María Teresa Martínez de Saavedra Álvarez, Rafael Alfaro, Felipe Rodríguez de Castro, null null, null null, Isabelle Meyts, Fabian H Hauck, Anne Puel, Paul Bastard, Bertrand Boisson, Emmanuelle Jouanguy, Laurent Abel, Aurélie Cobat, Qian Zhang, Jean Laurent Casanova, Laia Alsina, Carlos Flores
Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia. The Journal of experimental medicine 220 (5) (2023)
Ana Garcia Garcia, Rebeca Perez de Diego, Carlos Flores, Darawan Rinchai, Jordi Solé-Violán, Àngela Deyà-Martínez, Blanca García-Solis, Jose Miguel Lorenzo-Salazar, Elisa Hernández-Brito, Anna-Lisa Lanz, Leen Moens, Giorgia Bucciol, Mohamed Almuqamam, Joseph B Domachowske, Elena Colino, Juan Luis Santos-Perez, Francisco M Marco, Claudio Pignata, Ahmed Aziz Bousfiha, Suzanne C Tough, Stefanie Bauer, Filomeen Haerynck, Javier Gonzalo Ocejo-Vinyals, Francisco Lendínez, Seraina Prader, Nora Naumann-Bartsch, Jana Pachlopnik Schmid, Catherine M Biggs, Kyla Hildebrand, Alexandra Dreesman, Miguel Ángel Cárdenes, Fatima Ailal, Ibtihal Benhsaien, Giuliana Giardino, Agueda Molina-Fuentes, Clàudia Fortuny, Swetha Madhavarapu, Daniel H Conway, Carolina Prando, Laire Schidlowski, María Teresa Martínez de Saavedra Álvarez, Rafael Alfaro, Felipe Rodríguez de Castro, null null, null null, Isabelle Meyts, Fabian H Hauck, Anne Puel, Paul Bastard, Bertrand Boisson, Emmanuelle Jouanguy, Laurent Abel, Aurélie Cobat, Qian Zhang, Jean Laurent Casanova, Laia Alsina, Carlos Flores
Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia. The Journal of experimental medicine 220 (5) (2023)
Romain Levy, Florian Gothe, Mana Momenilandi, Thomas Magg, Marie Materna, Philipp Peters, Johannes Raedler, Quentin Philippot, Anita Lena Rack-Hoch, David Langlais, Mathieu Bourgey, Anna-Lisa Lanz, Masato Ogishi, Jérémie Rosain, Emmanuel Martin, Sylvain Latour, Natasha Vladikine, Marco Distefano, Taushif Khan, Franck Rapaport, Marian Simon Schulz, Ursula Holzer, Anders Fasth, Georgios Sogkas, Carsten Speckmann, Arianna Troilo, Venetia Bigley, Anna Roppelt, Yael Dinur Schejter, Ori Toker, Karen Helene Bronken Martinsen, Roya Sherkat, Ido Somekh, Raz Somech, Dror S Shouval, Jörn-Sven Kühl, Winnie Ip, Elizabeth M McDermott, Lucy Cliffe, Ahmet Ozen, Safa Barış, Hemalatha G Rangarajan, Emmanuelle Jouanguy, Anne Puel, Jacinta Bustamante, Marie-Alexandra Alyanakian, Mathieu Fusaro, Yi Wang, Xiao-Fei Kong, Aurélie Cobat, David Boutboul, Martin Castelle, Claire Aguilar, Olivier Hermine, Morgane Cheminant, Felipe Suarez, Alisan Yildiran, Ahmed Aziz Bousfiha, Hamoud Al-Mousa, Fahad Alsohime, Deniz Çağdaş Ayvaz, Roshini S Abraham, Alan P Knutsen, Børre Fevang, Sagar Bhattad, Ayça Kiykim, Baran Erman, Tugba Arikoglu, Ekrem Ünal, Ashish R Kumar, Christoph Bruno Geier, Ulrich Baumann, Bénédicte Neven, null null, Meino Rohlfs, Christoph Walz, Laurent Abel, Bernard Malissen, Nico Marr, Christoph Klein, Jean Laurent Casanova, Fabian H Hauck, Vivien Béziat
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. The Journal of experimental medicine 220 (2) (2022)
Romain Levy, Florian Gothe, Mana Momenilandi, Thomas Magg, Marie Materna, Philipp Peters, Johannes Raedler, Quentin Philippot, Anita Lena Rack-Hoch, David Langlais, Mathieu Bourgey, Anna-Lisa Lanz, Masato Ogishi, Jérémie Rosain, Emmanuel Martin, Sylvain Latour, Natasha Vladikine, Marco Distefano, Taushif Khan, Franck Rapaport, Marian Simon Schulz, Ursula Holzer, Anders Fasth, Georgios Sogkas, Carsten Speckmann, Arianna Troilo, Venetia Bigley, Anna Roppelt, Yael Dinur Schejter, Ori Toker, Karen Helene Bronken Martinsen, Roya Sherkat, Ido Somekh, Raz Somech, Dror S Shouval, Jörn-Sven Kühl, Winnie Ip, Elizabeth M McDermott, Lucy Cliffe, Ahmet Ozen, Safa Barış, Hemalatha G Rangarajan, Emmanuelle Jouanguy, Anne Puel, Jacinta Bustamante, Marie-Alexandra Alyanakian, Mathieu Fusaro, Yi Wang, Xiao-Fei Kong, Aurélie Cobat, David Boutboul, Martin Castelle, Claire Aguilar, Olivier Hermine, Morgane Cheminant, Felipe Suarez, Alisan Yildiran, Ahmed Aziz Bousfiha, Hamoud Al-Mousa, Fahad Alsohime, Deniz Çağdaş Ayvaz, Roshini S Abraham, Alan P Knutsen, Børre Fevang, Sagar Bhattad, Ayça Kiykim, Baran Erman, Tugba Arikoglu, Ekrem Ünal, Ashish R Kumar, Christoph Bruno Geier, Ulrich Baumann, Bénédicte Neven, null null, Meino Rohlfs, Christoph Walz, Laurent Abel, Bernard Malissen, Nico Marr, Christoph Klein, Jean Laurent Casanova, Fabian H Hauck, Vivien Béziat
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. The Journal of experimental medicine 220 (2) (2022)
Michael H Albert, Mary A Slatter, Andrew R Gennery, Tayfun Güngör, Katerina Bakunina, Benyamin Markovitch, Sheree Hazelaar, Tiarlan Sirait, Virginie Courteille, Alessandro Aiuti, Olga V Aleinikova, Dmitry Balashov, Maria Ester Bernardo, Ivana Bodova, Benedicte Bruno, Marina Cavazzana, Robert Chiesa, Alain Fischer, Fabian H Hauck, Marianne Ifversen, Krzyzstof Kalwak, Christoph Klein, Alexander Dmitrievich Kulagin, Alphan Kupesiz, Bulent Baris Kuskonmaz, Caroline A Lindemans, Franco Locatelli, Su Han Lum, Alexey A Maschan, Richard P Meisel, Despina Moshous, Fulvio Porta, Martin G Sauer, Petr Sedlacek, Ansgar Schulz, Felipe Suarez, Tanja C Vallée, Jacek H Winiarski, Marco Zecca, Bénédicte Neven, Paul Veys, Arjan C Lankester
Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis. Blood 139 (13) (2022)
Masato Ogishi, Jean-Laurent Casanova, Rémy Rodriguez, Dominic P Golec, Emmanuel Martin, Quentin Philippot, Jonathan Bohlen, Simon J Pelham, Andrés Augusto Arias, Taushif Khan, Manar Mahmoud Ahmad Ata, Fatima Al Ali, Flore Rozenberg, Xiao-Fei Kong, Maya Chrabieh, Candice Lainé, Wei-Te Lei, Ji Eun Han, Yoann Seeleuthner, Zenia Kaul, Emmanuelle Jouanguy, Vivien Béziat, Leila Youssefian, Hassan Vahidnezhad, V Koneti Rao, Bénédicte Neven, Claire Fieschi, Davood Mansouri, Mohammad Shahrooei, Sevgi Pekcan, Gülsüm Alkan, Melike Emiroğlu, Hüseyin Tokgöz, Jouni Uitto, Fabian H Hauck, Jacinta Bustamante, Laurent Abel, Sevgi Keles, Nima Parvaneh, Nico Marr, Pamela L Schwartzberg, Sylvain Latour, Jean Laurent Casanova, Stéphanie Boisson-Dupuis
Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis. The Journal of experimental medicine 220 (1) (2022)
Michael H Albert, Tiarlan Sirait, Dirk-Jan Eikema, Katerina Bakunina, Claudia Wehr, Felipe Suarez, Maria Laura Fox, Nizar Mahlaoui, Andrew R Gennery, Arjan C Lankester, Rita Beier, Maria Ester Bernardo, Venetia Bigley, Caroline A Lindemans, Siobhan O Burns, Ben Carpenter, Jaroslaw Dybko, Tayfun Güngör, Fabian H Hauck, Su Han Lum, Dmitry Balashov, Richard P Meisel, Despina Moshous, Ansgar Schulz, Carsten Speckmann, Mary A Slatter, Brigitte Strahm, Duygu Uckan-Cetinkaya, Isabelle Meyts, Tanja C Vallée, Robert Wynn, Bénédicte Neven, Emma C Morris, Alessandro Aiuti, Alexei Maschan, Mahmoud Aljurf, Tobias Gedde-Dahl, Gunhan Gurman, Victoria Bordon, Gergely Kriván, Franco Locatelli, Fulvio Porta, David Valcárcel, Yves Beguin, Maura Faraci, Nicolaus Kröger, Aleksandr Kulagin, Peter J Shaw, Joan Hendrik Veelken, Cristina Diaz de Heredia, Franca Fagioli, Matthias Felber, Bernd Gruhn, Wolfgang Holter, Claudia Rössig, Petr Sedlacek, Jane Apperley, Mouhab Ayas, Ivana Bodova, Goda Choi, J J Cornelissen, Anne Sirvent, Anjum Khan, Alphan Kupesiz, Stig Lenhoff, Hakan Ozdogu, Nicolas von der Weid, Montserrat Rovira, Rik Schots, Donald C Vinh
Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study. Blood 140 (14) (2022)
Monika I Linder, Yoko Mizoguchi, Sebastian Hesse, Gergely Csaba, Megumi Tatematsu, Marcin Łyszkiewicz, Natalia Zietara, Tim Jeske, Maximilian Hastreiter, Meino Rohlfs, Yanshan Liu, Piotr Grabowski, Kaarin Ahomaa, Daniela Maier-Begandt, Marko Schwestka, Vahid Pazhakh, Abdulsalam I Isiaku, Brenda Briones Miranda, Piers Blombery, Megumu K Saito, Ejona Rusha, Zahra Alizadeh, Zahra Pourpak, Masao Kobayashi, Nima Rezaei, Ekrem Unal, Fabian H Hauck, Micha Drukker, Barbara Walzog, Juri Rappsilber, Ralf Zimmer, Graham J Lieschke, Christoph Klein
Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes. Blood (2022)
Thomas Wimmer, Raphael Mattes, Hans-Joachim Stemmler, Fabian H Hauck, Hendrik Schulze-Koops, Stephanie-Susanne Stecher, Michael W Starck, Clemens-Martin Wendtner, Peter Bojko, Marcus Hentrich, Katharina E Nickel, Katharina S Götze, Florian Bassermann, Michael von Bergwelt-Baildon, Karsten Spiekermann
sCD25 as an independent adverse prognostic factor in adult HLH patients: results of a multicenter retrospective study. Blood advances (2022)
Romain Levy, Florian Gothe, Mana Momenilandi, Thomas Magg, Marie Materna, Philipp Peters, Johannes Raedler, Quentin Philippot, Anita Lena Rack-Hoch, David Langlais, Mathieu Bourgey, Anna-Lisa Lanz, Masato Ogishi, Jérémie Rosain, Emmanuel Martin, Sylvain Latour, Natasha Vladikine, Marco Distefano, Taushif Khan, Franck Rapaport, Marian Simon Schulz, Ursula Holzer, Anders Fasth, Georgios Sogkas, Carsten Speckmann, Arianna Troilo, Venetia Bigley, Anna Roppelt, Yael Dinur Schejter, Ori Toker, Karen Helene Bronken Martinsen, Roya Sherkat, Ido Somekh, Raz Somech, Dror S Shouval, Jörn-Sven Kühl, Winnie Ip, Elizabeth M McDermott, Lucy Cliffe, Ahmet Ozen, Safa Barış, Hemalatha G Rangarajan, Emmanuelle Jouanguy, Anne Puel, Jacinta Bustamante, Marie-Alexandra Alyanakian, Mathieu Fusaro, Yi Wang, Xiao-Fei Kong, Aurélie Cobat, David Boutboul, Martin Castelle, Claire Aguilar, Olivier Hermine, Morgane Cheminant, Felipe Suarez, Alisan Yildiran, Ahmed Aziz Bousfiha, Hamoud Al-Mousa, Fahad Alsohime, Deniz Çağdaş Ayvaz, Roshini S Abraham, Alan P Knutsen, Børre Fevang, Sagar Bhattad, Ayça Kiykim, Baran Erman, Tugba Arikoglu, Ekrem Ünal, Ashish R Kumar, Christoph Bruno Geier, Ulrich Baumann, Bénédicte Neven, null null, Meino Rohlfs, Christoph Walz, Laurent Abel, Bernard Malissen, Nico Marr, Christoph Klein, Jean Laurent Casanova, Fabian H Hauck, Vivien Béziat
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. The Journal of experimental medicine 220 (2) (2022)
Romain Levy, Florian Gothe, Mana Momenilandi, Thomas Magg, Marie Materna, Philipp Peters, Johannes Raedler, Quentin Philippot, Anita Lena Rack-Hoch, David Langlais, Mathieu Bourgey, Anna-Lisa Lanz, Masato Ogishi, Jérémie Rosain, Emmanuel Martin, Sylvain Latour, Natasha Vladikine, Marco Distefano, Taushif Khan, Franck Rapaport, Marian Simon Schulz, Ursula Holzer, Anders Fasth, Georgios Sogkas, Carsten Speckmann, Arianna Troilo, Venetia Bigley, Anna Roppelt, Yael Dinur Schejter, Ori Toker, Karen Helene Bronken Martinsen, Roya Sherkat, Ido Somekh, Raz Somech, Dror S Shouval, Jörn-Sven Kühl, Winnie Ip, Elizabeth M McDermott, Lucy Cliffe, Ahmet Ozen, Safa Barış, Hemalatha G Rangarajan, Emmanuelle Jouanguy, Anne Puel, Jacinta Bustamante, Marie-Alexandra Alyanakian, Mathieu Fusaro, Yi Wang, Xiao-Fei Kong, Aurélie Cobat, David Boutboul, Martin Castelle, Claire Aguilar, Olivier Hermine, Morgane Cheminant, Felipe Suarez, Alisan Yildiran, Ahmed Aziz Bousfiha, Hamoud Al-Mousa, Fahad Alsohime, Deniz Çağdaş Ayvaz, Roshini S Abraham, Alan P Knutsen, Børre Fevang, Sagar Bhattad, Ayça Kiykim, Baran Erman, Tugba Arikoglu, Ekrem Ünal, Ashish R Kumar, Christoph Bruno Geier, Ulrich Baumann, Bénédicte Neven, null null, Meino Rohlfs, Christoph Walz, Laurent Abel, Bernard Malissen, Nico Marr, Christoph Klein, Jean Laurent Casanova, Fabian H Hauck, Vivien Béziat
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. The Journal of experimental medicine 220 (2) (2022)
Romain Levy, Florian Gothe, Mana Momenilandi, Thomas Magg, Marie Materna, Philipp Peters, Johannes Raedler, Quentin Philippot, Anita Lena Rack-Hoch, David Langlais, Mathieu Bourgey, Anna-Lisa Lanz, Masato Ogishi, Jérémie Rosain, Emmanuel Martin, Sylvain Latour, Natasha Vladikine, Marco Distefano, Taushif Khan, Franck Rapaport, Marian Simon Schulz, Ursula Holzer, Anders Fasth, Georgios Sogkas, Carsten Speckmann, Arianna Troilo, Venetia Bigley, Anna Roppelt, Yael Dinur Schejter, Ori Toker, Karen Helene Bronken Martinsen, Roya Sherkat, Ido Somekh, Raz Somech, Dror S Shouval, Jörn-Sven Kühl, Winnie Ip, Elizabeth M McDermott, Lucy Cliffe, Ahmet Ozen, Safa Barış, Hemalatha G Rangarajan, Emmanuelle Jouanguy, Anne Puel, Jacinta Bustamante, Marie-Alexandra Alyanakian, Mathieu Fusaro, Yi Wang, Xiao-Fei Kong, Aurélie Cobat, David Boutboul, Martin Castelle, Claire Aguilar, Olivier Hermine, Morgane Cheminant, Felipe Suarez, Alisan Yildiran, Ahmed Aziz Bousfiha, Hamoud Al-Mousa, Fahad Alsohime, Deniz Çağdaş Ayvaz, Roshini S Abraham, Alan P Knutsen, Børre Fevang, Sagar Bhattad, Ayça Kiykim, Baran Erman, Tugba Arikoglu, Ekrem Ünal, Ashish R Kumar, Christoph Bruno Geier, Ulrich Baumann, Bénédicte Neven, null null, Meino Rohlfs, Christoph Walz, Laurent Abel, Bernard Malissen, Nico Marr, Christoph Klein, Jean Laurent Casanova, Fabian H Hauck, Vivien Béziat
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. The Journal of experimental medicine 220 (2) (2022)
Romain Levy, Florian Gothe, Mana Momenilandi, Thomas Magg, Marie Materna, Philipp Peters, Johannes Raedler, Quentin Philippot, Anita Lena Rack-Hoch, David Langlais, Mathieu Bourgey, Anna-Lisa Lanz, Masato Ogishi, Jérémie Rosain, Emmanuel Martin, Sylvain Latour, Natasha Vladikine, Marco Distefano, Taushif Khan, Franck Rapaport, Marian Simon Schulz, Ursula Holzer, Anders Fasth, Georgios Sogkas, Carsten Speckmann, Arianna Troilo, Venetia Bigley, Anna Roppelt, Yael Dinur Schejter, Ori Toker, Karen Helene Bronken Martinsen, Roya Sherkat, Ido Somekh, Raz Somech, Dror S Shouval, Jörn-Sven Kühl, Winnie Ip, Elizabeth M McDermott, Lucy Cliffe, Ahmet Ozen, Safa Barış, Hemalatha G Rangarajan, Emmanuelle Jouanguy, Anne Puel, Jacinta Bustamante, Marie-Alexandra Alyanakian, Mathieu Fusaro, Yi Wang, Xiao-Fei Kong, Aurélie Cobat, David Boutboul, Martin Castelle, Claire Aguilar, Olivier Hermine, Morgane Cheminant, Felipe Suarez, Alisan Yildiran, Ahmed Aziz Bousfiha, Hamoud Al-Mousa, Fahad Alsohime, Deniz Çağdaş Ayvaz, Roshini S Abraham, Alan P Knutsen, Børre Fevang, Sagar Bhattad, Ayça Kiykim, Baran Erman, Tugba Arikoglu, Ekrem Ünal, Ashish R Kumar, Christoph Bruno Geier, Ulrich Baumann, Bénédicte Neven, null null, Meino Rohlfs, Christoph Walz, Laurent Abel, Bernard Malissen, Nico Marr, Christoph Klein, Jean Laurent Casanova, Fabian H Hauck, Vivien Béziat
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. The Journal of experimental medicine 220 (2) (2022)
Akihiro Hoshino, David Boutboul, Yuan Zhang, Hye Sun Kuehn, Jerôme Hadjadj, Gül Nihal Özdemir, Tiraje Celkan, Christoph Walz, Capucine Picard, Christelle Lenoir, Nizar Mahlaoui, Christoph Klein, Xiao P Peng, Antoine Azar, Erin Reigh, Morgane Cheminant, Alain Fischer, Frédéric Rieux-Laucat, Isabelle Callebaut, Fabian H Hauck, Joshua Milner, Sergio D Rosenzweig, Sylvain Latour
Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation. Science immunology 7 (69) (2022)
Thomas Magg, Tsubasa Okano, Lars M Koenig, Daniel F R Boehmer, Samantha L Schwartz, Kento Inoue, Jennifer Heimall, Francesco Licciardi, Julia Ley-Zaporozhan, Ronald M Ferdman, Andrés Caballero Garcia de Oteyza, Esther N Park, Brenda M Calderon, Debayan Dey, Hirokazu Kanegane, Kazutoshi Cho, Davide Montin, Karl Reiter, Matthias Griese, Michael H Albert, Meino Rohlfs, Paul Gray, Christoph Walz, Graeme L Conn, Kathleen E Sullivan, Christoph Klein, Tomohiro Morio, Fabian H Hauck
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency. Science immunology 6 (60) (2022)
Julian Kolorz, Salih Demir, Adrian Gottschlich, Iris Beirith, Matthias Ilmer, Daniel Lüthy, Christoph Walz, Mario M Dorostkar, Thomas Magg, Fabian H Hauck, Dietrich von Schweinitz, Sebastian Kobold, Roland Kappler, Michael Berger
The Neurokinin-1 Receptor Is a Target in Pediatric Rhabdoid Tumors. Current oncology (Toronto, Ont.) 29 (1) (2021)
Markus G Seidel, Victoria K Tesch, Linlin Yang, Fabian H Hauck, Anna Lena Horn, Maria Anna Smolle, Franz Quehenberger, Martin Benesch
The Immune Deficiency and Dysregulation Activity (IDDA2.1 'Kaleidoscope') Score and Other Clinical Measures in Inborn Errors of Immunity. Journal of clinical immunology (2021)
Elias Seidl, Dirk Schramm, Carola Schön, Karl Reiter, Ingo Pawlita, Matthias Kappler, Simone Reu-Hofer, Fabian H Hauck, Michael H Albert, Matthias Griese
Pulmonary alveolar proteinosis due to heterozygous mutation in OAS1: Whole lung lavages for long-term bridging to hematopoietic stem cell transplantation. Pediatric pulmonology 57 (1) (2021)
Tom Le Voyer, Sonoko Sakata, Miyuki Tsumura, Taushif Khan, Ana Esteve-Sole, Bandar K Al-Saud, Hatice Eke Gungor, Prasad Taur, Valentine Jeanne-Julien, Mette Christiansen, Lisa-Maria Köhler, Gehad Eltayeb ElGhazali, Jérémie Rosain, Shiho Nishimura, Fumiaki Sakura, Matthieu Bouaziz, Carmen Oleaga-Quintas, Alejandro Nieto-Patlán, Àngela Deyà-Martinez, Yasemin Altuner Torun, Anna-Lena Neehus, Manon Roynard, Sefika Elmas Bozdemir, Nawal Al Kaabi, Moza Al Hassani, Irina Mersiyanova, Flore Rozenberg, Carsten Speckmann, Ina Hainmann, Fabian H Hauck, Mohammed Hamdan Alzahrani, Sami Hussain Alhajjar, Saleh Al-Muhsen, Theresa S Cole, Ramsay Fuleihan, Peter D Arkwright, Raffaele Badolato, Laia Alsina, Laurent Abel, Mukesh Desai, Hamoud Al-Mousa, Anna Shcherbina, Nico Marr, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Satoshi Okada, Jacinta Bustamante
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency. Journal of immunology (Baltimore, Md. : 1950) (2021)
Anna Eichinger, Horst von Bernuth, Cinzia Dedieu, Sebastian A Schroeder, Giancarlo la Marca, Michael H Albert, Fabian H Hauck
Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency. Journal of clinical immunology 41 (5) (2021)
Daniel Kotlarz, Benjamin Marquardt, Tuva Barøy, Way S Lee, Liza Konnikova, Sebastian Hollizeck, Thomas Magg, Anna S Lehle, Christoph Walz, Ingo Borggraefe, Fabian H Hauck, Philip Bufler, Raffaele Conca, Sarah M Wall, Eva M Schumacher, Doriana Misceo, Eirik Frengen, Beint S Bentsen, Holm H Uhlig, Karl-Peter Hopfner, Aleixo M Muise, Scott B Snapper, Petter Strømme, Christoph Klein
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. Nature genetics 50 (3) (2018)