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Multiple Reversions of an IL2RG Mutation Restore T cell Function in an X-linked Severe Combined Immunodeficiency Patient

✍ Scribed by Kawai, Tomoki; Saito, Megumu; Nishikomori, Ryuta; Yasumi, Takahiro; Izawa, Kazushi; Murakami, Tomohiko; Okamoto, Shigefumi; Mori, Yasuko; Nakagawa, Noriko; Imai, Kohsuke; Nonoyama, Shigeaki; Wada, Taizo; Yachie, Akihiro; Ohmori, Katsuyuki; Nakahata, Tatsutoshi; Heike, Toshio


Book ID
113070578
Publisher
Springer
Year
2012
Tongue
English
Weight
575 KB
Volume
32
Category
Article
ISSN
0271-9142

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Mutations in the gene encoding the common gamma chain (γc) of interleukin receptors 2, 4, 7, 9, 15 and 21 result in X-linked severe combined immunodeficiency (SCID-X1). Classically, this disease is characterised by an absence of T and NK cells, and near normal numbers of functionally deficient B cel