Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency-Reference-Cited by-同舟云学术

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency

Published:2024-04-12 Issue:5 Volume:25 Page:764-777
ISSN:1529-2908
Container-title:Nature Immunology
language:en
Short-container-title:Nat Immunol

Author:

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

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41590-024-01817-w.pdf

Reference61 articles.

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3. Kelsall, I. R., Zhang, J., Knebel, A., Arthur, J. S. C. & Cohen, P. The E3 ligase HOIL-1 catalyses ester bond formation between ubiquitin and components of the Myddosome in mammalian cells. Proc. Natl Acad. Sci. USA 116, 13293–13298 (2019).

4. Boisson, B. et al. Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia. J. Exp. Med. 212, 939–951 (2015).

5. Boisson, B. et al. Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat. Immunol. 13, 1178–1186 (2012).

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