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Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency

Hirotsugu Oda, Kalpana Manthiram, Pallavi Pimpale Chavan, Eva Rieser, Önay Veli, Öykü Kaya, Charles T. Rauch, Shuichiro Nakabo, Hye Sun Kuehn, M. Swart, Yanli Wang, Nisa Ilgim Çelik, Anne Molitor, Vahid Ziaee, Nasim Movahedi, Mohammad Shahrooei, Nima Parvaneh, Nasrin Alipour-olyei, Raphaël Carapito, Qin Xu, Silvia Preite, David B. Beck, Jae Jin Chae, Michele Nehrebecky, Amanda K. Ombrello, Patrycja Hoffmann, Tina Romeo, Natalie Deuitch, Brynja Matthíasardóttir, James C. Mullikin, Hirsh D. Komarow, Jennifer Stoddard, Julie E. Niemela, Kerry Dobbs, Colin L. Sweeney, Holly Anderton, Kate E. Lawlor, Hiroyuki Yoshitomi, Dan Yang, Manfred Boehm, Jeremy L. 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 Iwaï, John Silke, Pamela L. Schwartzberg, Bertrand Boisson, Jean‐Laurent Casanova, Seiamak Bahram, Anand Rao, Nieves Peltzer, Henning Walczak, Najoua Lalaoui, Ivona Aksentijevich, Daniel L. Kastner

2024Nature Immunology34 citationsDOIOpen Access PDF

Topics & Concepts

ImmunodeficiencyImmunologyBiologyImmune systemLoss functionSevere combined immunodeficiencyGerminal centerPhenotypeB cellGeneticsAntibodyGeneUbiquitin and proteasome pathwaysInflammasome and immune disordersNF-κB Signaling Pathways
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency | Litcius