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Nasim Movahedi

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Articles

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency - Nature Immunology

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By Hirotsugu Oda, Kalpana Manthiram, Pallavi Pimpale Chavan, Shuichiro Nakabo, Mariël Swart, Nisa Celik, Vahid Ziaee, Nasim Movahedi, Raphael Carapito, Qin Xu, David Beck, Natalie Deuitch, James C. Mullikin, Kerry Dobbs, Holly Anderton, Kate Lawlor, Hiroyuki Yoshitomi, Mariana J. Kaplan, Christian Mayer, Luigi D. Notarangelo, Kazuhiro Iwai, John Silke, Bertrand Boisson, Jean-Laurent Casanova Verified, Seiamak Bahram, Nieves Peltzer, Najoua Lalaoui, Ivona Aksentijevich
| Nature Verified
Abstract The linear ubiquitin assembly complex (LUBAC) consists of HOIP, HOIL-1 and SHARPIN and is essential for proper immune responses. Individuals with HOIP and HOIL-1 deficiencies present with severe immunodeficiency, autoinflammation and glycogen storage disease. In mice, the loss of Sharpin leads to severe dermatitis due to excessive keratinocyte cell death.
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