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  • Flow cytometry-based diagnosis of primary immunodeficiency diseases

    Kanegane Hirokazu , Nishikomori Ryuta , Takagi Masatoshi , Imai Kohsuke , Ochs Hans D. , Morio Tomohiro , Hoshino Akihiro , Okano Tsubasa , Yasumi Takahiro , Wada Taizo , Takada Hidetoshi , Okada Satoshi , Yamashita Motoi , Yeh Tzu-wen

    … <p>Primary immunodeficiencies (PIDs) are a heterogeneous group of inherited diseases of the immune system. …

    Allergology International 67(1), 43-54, 2018

    IR  J-STAGE  Ichushi Web 

  • Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq

    Nakayama Manabu , Oda Hirotsugu , Nakagawa Kenji , Yasumi Takahiro , Kawai Tomoki , Izawa Kazushi , Nishikomori Ryuta , Heike Toshio , Ohara Osamu

    … Autoinflammatory diseases occupy one of a group of primary immunodeficiency diseases that are generally thought to be caused by mutation of genes responsible for innate immunity, rather than by acquired immunity. … Mutations related to autoinflammatory diseases occur in 12 genes. …

    Biochemistry and Biophysics Reports (9), 146-152, 2017-03

    IR 

  • Patient-derived iPS cells as a tool for gene therapy research  [in Japanese]

    OTSU Makoto

    … Gene therapy targeting hematopoietic stem cells (HSC) can now be recognized as a curative treatment option for patients with genetic disorders, including primary immunodeficiency (PID) diseases. … This article introduces a proof that patient-derived iPSCs represent an invaluable tool for modelling genetic diseases such as PIDs, and also provide an indispensable research model usable for the development of ideal therapeutic modalities. …

    Rinsho Ketsueki 56(8), 1016-1024, 2015

    J-STAGE  Ichushi Web 

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