PSMB10, the last immunoproteasome gene missing for PRAAS.

Guillaume Sarrabay,Déborah Méchin,Aicha Salhi,Guilaine Boursier,Cécile Rittore,Yanick Crow,Gillian Rice,Tu-Anh Tran,Renaud Cezar,Darragh Duffy,Vincent Bondet, Lakhdar Boudhane, Christophe Broca, Benjamin P Kant, Mariëlle VanGijn,Sylvie Grandemange,Eric Richard,Florence Apparailly,Isabelle Touitou

The Journal of allergy and clinical immunology（2019）

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摘要

We describe a patient exhibiting clinical features of PRAAS due to a homozygous mutation in PSMB10. This gene encodes the only immunoproteasome subunit in which mutations have not yet been associated with PRAAS.

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