Three novel mutations in the IL-2R gamma chain gene were identified in four Japanese patients with X-linked severe combined immunodeficiency by direct sequence analysis of polymerase chain reaction (PCR) amplified DNA fragments.
Characterization of the γc chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID)
✍ Scribed by Satoru Kumaki; Naoto Ishii; Masayoshi Minegishi; Yoshiyuki Ohashi; Ikuko Hakozaki; Shigeaki Nonoyama; Kohsuke Imai; Tomohiro Morio; Ikuya Tsuge; Yukio Sakiyama; Akihiko Miyanoshita; Jun-ichi Miura; Mitsuhumi Mayumi; Toshio Heike; Kenji Katamura; Hidetoshi Takada; Isho Izumi; Junji Kamizono; Shigeyoshi Hibi; Hiroshi Sasaki; Mitsuaki Kimura; Atsushi Kikuta; Yukiji Date; Masahiro Sako; Haruki Tanaka; Kimihiko Sano; Kazuo Sugamura; Shigeru Tsuchiya
- Publisher
- Springer
- Year
- 2000
- Tongue
- English
- Weight
- 21 KB
- Volume
- 107
- Category
- Article
- ISSN
- 0340-6717
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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