Article
Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency.
The Journal of allergy and clinical immunology - 1 Dec 2016
Tsujita Yuki, Mitsui-Sekinaka Kanako, Imai Kohsuke, Yeh Tzu-Wen, Mitsuiki Noriko, Asano Takaki, Ohnishi Hidenori, Kato Zenichiro, Sekinaka Yujin, Zaha Kiyotaka, Kato Tamaki, Okano Tsubasa, Takashima Takehiro, Kobayashi Kaoru, Kimura Mitsuaki, Kunitsu Tomoaki, Maruo Yoshihiro, Kanegane Hirokazu, Takagi Masatoshi, Yoshida Kenichi, Okuno Yusuke, Muramatsu Hideki, Shiraishi Yuichi, Chiba Kenichi, Tanaka Hiroko, Miyano Satoru, Kojima Seiji, Ogawa Seishi, Ohara Osamu, Okada Satoshi, Kobayashi Masao, Morio Tomohiro, Nonoyama Shigeaki
Abstract excerpt
BACKGROUND: Activated phosphatidylinositol 3-kinase δ syndrome (APDS) is a recently discovered primary immunodeficiency disease (PID). Excess phosphatidylinositol 3-kinase (PI3K) activity linked to mutations in 2 PI3K genes, PIK3CD and PIK3R1, causes APDS through hyperphosphorylation of AKT, mammalian target of rapamycin (mTOR), and S6. OBJECTIVE: This study aimed to identify novel genes responsible for APDS....
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