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András N. Spaan
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Journal Articles

The seven enigmas of SARS-CoV-2: From the past to the future

Evangelos Andreakos, Lisa Arkin, Paul Bastard, Alexandre Bolze, Alessandro Borghesi, Petter Brodin, Jean-Laurent Casanova, Giorgio Casari, Aurélie Cobat, Beth Drolet, Jacques Fellay, Elena W.Y. Hsieh, Isabelle Meyts, Trine H. Mogensen, Vanessa Sancho-Shimizu, András N. Spaan, Helen C. Su, Donald C. Vinh, Ahmad Yatim, Qian Zhang, Shen-Ying Zhang, COVID Human Genetic Effort
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250149.
https://doi.org/10.70962/jhi.20250149
Published: 24 October 2025
View article titled, The seven enigmas of SARS-CoV-2: From the past to the future
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Includes: Supplementary data
Journal Articles

Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency

Tristan J. van der Linden, Rob J.W. Arts, Catherine M. Biggs, Laleh Habibi, Laura Batlle-Masó, Arjan van Laarhoven, Lisette M. Scheepmaker, Pariya Yousefi, Andrea C. Gómez-Raccio, Zahra Alizadeh, Catharina M. Mulders-Manders, Jaap ten Oever, Janneke Schuurs-Hoeijmakers, Nasrin Alipour-Olyei, Anne Molitor, Daniela Di Giovanni, Raphael Carapito, Seiamak Bahram, Gisela Seminario, Liliana Bezrodnik, Mana Momenilandi, Mohammad Shahrooei, Jacinta Bustamante, Ivona Aksentijevich, Daniel L. Kastner, Mohammad Reza Fazlollahi, Roger Colobran, Stuart E. Turvey, Frank L. van de Veerdonk, Jean-Laurent Casanova, Bertrand Boisson, Bart W. Bardoel, András N. Spaan
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250018.
https://doi.org/10.70962/jhi.20250018
Published: 30 September 2025
View article titled, Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency
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Includes: Supplementary data
Journal Articles

Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency

András N. Spaan, Bertrand Boisson, Seth L. Masters
Journal: Journal of Experimental Medicine
Series: Genes and Immunity Focus
J Exp Med (2025) 222 (5): e20241047.
https://doi.org/10.1084/jem.20241047
Published: 15 April 2025
View article titled, Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency
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Journal Articles

OTULIN and Muller’s morphs

András N. Spaan
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (6): e20240418.
https://doi.org/10.1084/jem.20240418
Published: 23 April 2024
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Journal Articles

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

Juan Li, Wei-Te Lei, Peng Zhang, Franck Rapaport, Yoann Seeleuthner, Bingnan Lyu, Takaki Asano, Jérémie Rosain, Boualem Hammadi, Yu Zhang, Simon J. Pelham, András N. Spaan, Mélanie Migaud, David Hum, Benedetta Bigio, Maya Chrabieh, Vivien Béziat, Jacinta Bustamante, Shen-Ying Zhang, Emmanuelle Jouanguy, Stephanie Boisson-Dupuis, Jamila El Baghdadi, Vishukumar Aimanianda, Katharina Thoma, Manfred Fliegauf, Bodo Grimbacher, Anne-Sophie Korganow, Carol Saunders, V. Koneti Rao, Gulbu Uzel, Alexandra F. Freeman, Steven M. Holland, Helen C. Su, Charlotte Cunningham-Rundles, Claire Fieschi, Laurent Abel, Anne Puel, Aurélie Cobat, Jean-Laurent Casanova, Qian Zhang, Bertrand Boisson
Journal: Journal of Experimental Medicine
J Exp Med (2021) 218 (11): e20210566.
https://doi.org/10.1084/jem.20210566
Published: 02 September 2021
View article titled, Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency
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Includes: Supplementary data
Journal Articles

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

Takaki Asano, Joëlle Khourieh, Peng Zhang, Franck Rapaport, András N. Spaan, Juan Li, Wei-Te Lei, Simon J. Pelham, David Hum, Maya Chrabieh, Ji Eun Han, Antoine Guérin, Joseph Mackie, Sudhir Gupta, Biman Saikia, Jamila E.I. Baghdadi, Ilham Fadil, Aziz Bousfiha, Tanwir Habib, Nico Marr, Luckshman Ganeshanandan, Jane Peake, Luke Droney, Andrew Williams, Fatih Celmeli, Nevin Hatipoglu, Tayfun Ozcelik, Capucine Picard, Laurent Abel, Stuart G. Tangye, Stéphanie Boisson-Dupuis, Qian Zhang, Anne Puel, Vivien Béziat, Jean-Laurent Casanova, Bertrand Boisson
Journal: Journal of Experimental Medicine
J Exp Med (2021) 218 (8): e20202592.
https://doi.org/10.1084/jem.20202592
Published: 17 June 2021
View article titled, Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance
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Includes: Supplementary data