Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

Author:

van der Made Caspar I.,Kersten Simone,Chorin Odelia,Engelhardt Karin R.,Ramakrishnan Gayatri,Griffin Helen,Schim van der Loeff Ina,Venselaar Hanka,Rothschild Annick Raas,Segev Meirav,Schuurs-Hoeijmakers Janneke H.M.,Mantere Tuomo,Essers Rick,Esteki Masoud Zamani,Avital Amir L.,Loo Peh Sun,Simons Annet,Pfundt Rolph,Warris Adilia,Seyger Marieke M.,van de Veerdonk Frank L.,Netea Mihai G.,Slatter Mary A.,Flood Terry,Gennery Andrew R.,Simon Amos J.,Lev Atar,Frizinsky Shirley,Barel Ortal,van der Burg Mirjam,Somech Raz,Hambleton Sophie,Henriet Stefanie S.V.,Hoischen AlexanderORCID

Publisher

Elsevier BV

Reference51 articles.

1. The immunoproteasome and thymoproteasome: functions, evolution and human disease;Murata;Nat. Immunol.,2018

2. The immunoproteasome and viral infection: a complex regulator of inflammation;McCarthy;Front. Microbiol.,2015

3. Mice completely lacking immunoproteasomes show major changes in antigen presentation;Kincaid;Nat. Immunol.,2011

4. Differential processing of class-I-restricted epitopes by the standard proteasome and the immunoproteasome;Van den Eynde;Curr. Opin. Immunol.,2001

5. IFN-γ-induced immune adaptation of the proteasome system is an accelerated and transient response;Heink,2005

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