Biallelic Human SHARPIN Loss of Function Induces Autoinflammation and Immunodeficiency
Hirotsugu Oda,Kalpana Manthiram,Pallavi Pimpale Chavan,Eva Rieser, Oenay Veli, Oeykue Kaya,Charles Rauch,Shuichiro Nakabo,Hye Sun Kuehn, Mariel Swart, Yanli Wang, Nisa Ilgim Celik,Anne Molitor,Vahid Ziaee,Nasim Movahedi,Mohammad Shahrooei,Nima Parvaneh, Nasrin Alipour-Olyei,Raphael Carapito,Qin Xu,Silvia Preite,David B. Beck,Jae Jin Chae,Michele Nehrebecky,Amanda K. Ombrello,Patrycja Hoffmann,Tina Romeo,Natalie T. Deuitch,Brynja Matthiasardottir,James Mullikin,Hirsh Komarow,Jennifer Stoddard,Julie Niemela,Kerry Dobbs,Colin L. Sweeney,Holly Anderton,Kate E. Lawlor,Hiroyuki Yoshitomi,Dan Yang,Manfred Boehm,Jeremy Davis,Pamela Mudd,Davide Randazzo,Wanxia Li Tsai,Massimo Gadina,Mariana J. Kaplan,Junya Toguchida,Christian T. Mayer,Sergio D. Rosenzweig,Luigi D. Notarangelo,Kazuhiro Iwai,John Silke,Pamela L. Schwartzberg,Bertrand Boisson,Jean-Laurent Casanova,Seiamak Bahram,Anand Prahalad Rao,Nieves Peltzer,Henning Walczak,Najoua Lalaoui,Ivona Aksentijevich,Daniel L. Kastner NATURE IMMUNOLOGY（2024）
Key words
Inflammation,ubiquitination
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