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Jörn-Sven Kühl
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Journal Articles

Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging

Emilie Pauline Buddingh, Mary Slatter, Juan Carlos Aldave Becerra, Laura Alonso Garcia, Erik von Asmuth, Safa Baris, Oscar de la Calle-Martín, Alice Y. Chan, Su-Wan Bianca Chan, Shanmuganathan Chandrakasan, Deepakbabu Chellapandian, Jasmeen Dara, Susan Farmand, Anders Fasth, Lisa Forbes Satter, Renata Formankova, Eyal Grunebaum, Steven J. Keogh, Ayça Kiykim, Jörn-Sven Kühl, Alexandra Laberko, Timothy Ronan Leahy, Caroline Lindemans, Caridad Martinez, Laura Martínez-Martínez, William Glenn Mitchell, Emma Morris, Joseph H. Oved, Maria Polacik, Jacques G. Rivière, Chaim M. Roifman, Sara Sebnem Kilic, Petr Sedlacek, Ami J. Shah, Linda Vong, Arjan C. Lankester, Michael H. Albert, Bénédicte Neven, Troy Torgerson, Jennifer Leiding, Catharina Schuetz, Inborn Errors Working Party (IEWP),, European Society for Blood and Marrow Transplantation (EBMT), and Primary Immunodeficiency Treatment Consortium (PIDTC)
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250027.
https://doi.org/10.70962/jhi.20250027
Published: 30 July 2025
View article titled, Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging
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Includes: Supplementary data
Journal Articles

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

Romain Lévy, 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 S. 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 Baris, 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, Aziz Bousfiha, Hamoud Al-Mousa, Fahad Alsohime, Deniz Cagdas, Roshini S. Abraham, Alan P. Knutsen, Borre Fevang, Sagar Bhattad, Ayca Kiykim, Baran Erman, Tugba Arikoglu, Ekrem Unal, Ashish Kumar, Christoph B. Geier, Ulrich Baumann, Bénédicte Neven, CARMIL2 Consortium, Meino Rohlfs, Christoph Walz, Laurent Abel, Bernard Malissen, Nico Marr, Christoph Klein, Jean-Laurent Casanova, Fabian Hauck, Vivien Béziat
Journal: Journal of Experimental Medicine
J Exp Med (2022) 220 (2): e20220275.
https://doi.org/10.1084/jem.20220275
Published: 14 December 2022
View article titled, Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency
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Includes: Supplementary data