Article
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Nature immunology - 1 May 2024
Oda Hirotsugu, Manthiram Kalpana, Chavan Pallavi Pimpale, Rieser Eva, Veli Önay, Kaya Öykü, Rauch Charles, Nakabo Shuichiro, Kuehn Hye Sun, Swart Mariël, Wang Yanli, Çelik Nisa Ilgim, Molitor Anne, Ziaee Vahid, Movahedi Nasim, Shahrooei Mohammad, Parvaneh Nima, Alipour-Olyei Nasrin, Carapito Raphael, Xu Qin, Preite Silvia, Beck David B, Chae Jae Jin, Nehrebecky Michele, Ombrello Amanda K, Hoffmann Patrycja, Romeo Tina, Deuitch Natalie T, Matthíasardóttir Brynja, Mullikin James, Komarow Hirsh, Stoddard Jennifer, Niemela Julie, Dobbs Kerry, Sweeney Colin L, Anderton Holly, Lawlor Kate E, Yoshitomi Hiroyuki, Yang Dan, Boehm Manfred, Davis Jeremy, Mudd Pamela, Randazzo Davide, Tsai Wanxia Li, Gadina Massimo, Kaplan Mariana J, Toguchida Junya, Mayer Christian T, Rosenzweig Sergio D, Notarangelo Luigi D, Iwai Kazuhiro, Silke John, Schwartzberg Pamela L, Boisson Bertrand, Casanova Jean-Laurent, Bahram Seiamak, Rao Anand Prahalad, Peltzer Nieves, Walczak Henning, Lalaoui Najoua, Aksentijevich Ivona, Kastner Daniel L
Abstract excerpt
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. Here, we report two individuals with SHARPIN deficiency...
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