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Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency.
Tsujita Y, Mitsui-Sekinaka K, Imai K, Yeh TW, Mitsuiki N, Asano T, Ohnishi H, Kato Z, Sekinaka Y, Zaha K, Kato T, Okano T, Takashima T, Kobayashi K, Kimura M, Kunitsu T, Maruo Y, Kanegane H, Takagi M, Yoshida K, Okuno Y, Muramatsu H, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Kojima S, Ogawa S, Ohara O, Okada S, Kobayashi M, Morio T, Nonoyama S. Tsujita Y, et al. Among authors: nonoyama s. J Allergy Clin Immunol. 2016 Dec;138(6):1672-1680.e10. doi: 10.1016/j.jaci.2016.03.055. Epub 2016 Jul 14. J Allergy Clin Immunol. 2016. PMID: 27426521
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.
Belal H, Nakashima M, Matsumoto H, Yokochi K, Taniguchi-Ikeda M, Aoto K, Amin MB, Maruyama A, Nagase H, Mizuguchi T, Miyatake S, Miyake N, Iijima K, Nonoyama S, Matsumoto N, Saitsu H. Belal H, et al. Among authors: nonoyama s. Hum Mutat. 2018 Aug;39(8):1070-1075. doi: 10.1002/humu.23550. Epub 2018 May 25. Hum Mutat. 2018. PMID: 29768694
The Primary Immunodeficiency Database in Japan.
Mitsui-Sekinaka K, Sekinaka Y, Endo A, Imai K, Nonoyama S. Mitsui-Sekinaka K, et al. Among authors: nonoyama s. Front Immunol. 2022 Jan 10;12:805766. doi: 10.3389/fimmu.2021.805766. eCollection 2021. Front Immunol. 2022. PMID: 35082792 Free PMC article. Review.
Common Variable Immunodeficiency Caused by FANC Mutations.
Sekinaka Y, Mitsuiki N, Imai K, Yabe M, Yabe H, Mitsui-Sekinaka K, Honma K, Takagi M, Arai A, Yoshida K, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Muramatsu H, Kojima S, Hira A, Takata M, Ohara O, Ogawa S, Morio T, Nonoyama S. Sekinaka Y, et al. Among authors: nonoyama s. J Clin Immunol. 2017 Jul;37(5):434-444. doi: 10.1007/s10875-017-0396-4. Epub 2017 May 11. J Clin Immunol. 2017. PMID: 28493158
291 results