Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor
Shinsuke Kataoka, Nozomu Kawashima, Yusuke Okuno, Hideki Muramatsu, Shunsuke Miwata, Kotaro Narita, Motoharu Hamada, Norihiro Murakami, Rieko Taniguchi, Daisuke Ichikawa, Hironobu Kitazawa, Kyogo Suzuki, Eri Nishikawa, Atsushi Narita, Nobuhiro Nishio, Hidenori Yamamoto, Yoshie Fukasawa, Taichi Kato, Hiroyuki Yamamoto, Jun Natsume, Seiji Kojima, Ichizo Nishino, Takeshi Taketani, Hidenori Ohnishi, Yoshiyuki Takahashi
Topics & Concepts
MutationJanus kinaseGeneKinaseJanusGeneticsJanus kinase 3MedicineBiologyCancer researchNanotechnologyMaterials scienceAntigen-presenting cellCytotoxic T cellIn vitroUbiquitin and proteasome pathwaysinterferon and immune responsesInflammasome and immune disorders