Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency
About this item
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Author / Creator
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 and Kastner, Daniel L.
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
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 keratinocyt...
Alternative Titles
Full title
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11626442
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11626442
Other Identifiers
ISSN
1529-2908,1529-2916
E-ISSN
1529-2916
DOI
10.1038/s41590-024-01817-w
