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- [21] Perspectives in newborn screening for SCID in Japan. Case report: newborn screening identified X-linked severe combined immunodeficiency with a novel IL2RG variantFRONTIERS IN IMMUNOLOGY, 2024, 15Beppu, Shiro论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima, Japan论文数: 引用数: h-index:机构:Tomomasa, Dan论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ TMDU, Grad Sch Med & Dent Sci, Dept Pediat & Dev Biol, Tokyo, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima, JapanHijikata, Atsushi论文数: 0 引用数: 0 h-index: 0机构: Tokyo Univ Pharm & Life Sci, Sch Life Sci, Tokyo, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima, JapanKasabata, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ Hosp, Dept Clin Lab Med, Kagoshima, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima, JapanTerazono, Hideyuki论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Clin Pharm & Pharmacol, Kagoshima, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima, JapanIkawa, Kazuro论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Dept Clin Pharmacotherapy, Hiroshima, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima, JapanNakamura, Tatsuro论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima, JapanHorikawa, Shogo论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima, JapanNagahama, Jun论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima, JapanNakamura, Aki论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima, JapanAbematsu, Takanari论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima, Japan论文数: 引用数: h-index:机构:Oketani, Kaoru论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Prefectural Comprehens Hlth Ctr, Kagoshima, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima, JapanKanegane, Hirokazu论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ TMDU, Grad Sch Med & Dent Sci, Dept Child Hlth & Dev, Tokyo, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima, JapanOkamoto, Yasuhiro论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima, Japan
- [22] EBV-associated lymphoproliferative disorder in a patient with X-linked severe combined immunodeficiency with multiple reversions of an IL2RG mutation in T cellsEJHAEM, 2020, 1 (02): : 581 - 584Wada, Fumiya论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Hematol & Oncol, 54 Shogoin Kawaharacho Sakyo Ku, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Hematol & Oncol, 54 Shogoin Kawaharacho Sakyo Ku, Kyoto 6068507, JapanKondo, Tadakazu论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Hematol & Oncol, 54 Shogoin Kawaharacho Sakyo Ku, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Hematol & Oncol, 54 Shogoin Kawaharacho Sakyo Ku, Kyoto 6068507, JapanNakamura, Momoko论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Hematol & Oncol, 54 Shogoin Kawaharacho Sakyo Ku, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Hematol & Oncol, 54 Shogoin Kawaharacho Sakyo Ku, Kyoto 6068507, JapanUno, Shunsuke论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Diagnost Pathol, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Hematol & Oncol, 54 Shogoin Kawaharacho Sakyo Ku, Kyoto 6068507, JapanFujimoto, Masakazu论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Diagnost Pathol, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Hematol & Oncol, 54 Shogoin Kawaharacho Sakyo Ku, Kyoto 6068507, JapanMiyamoto, Takayuki论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Pediat, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Hematol & Oncol, 54 Shogoin Kawaharacho Sakyo Ku, Kyoto 6068507, JapanHonda, Yoshitaka论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Pediat, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Hematol & Oncol, 54 Shogoin Kawaharacho Sakyo Ku, Kyoto 6068507, Japan论文数: 引用数: h-index:机构:Izawa, Kazushi论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Pediat, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Hematol & Oncol, 54 Shogoin Kawaharacho Sakyo Ku, Kyoto 6068507, Japan论文数: 引用数: h-index:机构:Nishikori, Momoko论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Hematol & Oncol, 54 Shogoin Kawaharacho Sakyo Ku, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Hematol & Oncol, 54 Shogoin Kawaharacho Sakyo Ku, Kyoto 6068507, JapanTakaori-Kondo, Akifumi论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Hematol & Oncol, 54 Shogoin Kawaharacho Sakyo Ku, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Hematol & Oncol, 54 Shogoin Kawaharacho Sakyo Ku, Kyoto 6068507, Japan
- [23] X-LINKED SEVERE COMBINED IMMUNODEFICIENCY SECONDARY TO IL-2 RECEPTOR MUTATION IN A NEWBORN INFANTANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2013, 111 (05) : A87 - A87Dy, T.论文数: 0 引用数: 0 h-index: 0Patel, P.论文数: 0 引用数: 0 h-index: 0Rubinstein, A.论文数: 0 引用数: 0 h-index: 0O'Reilly, R.论文数: 0 引用数: 0 h-index: 0
- [24] Early-Onset Inflammatory Bowel Disease Caused by Mutations in the X-Linked Gene IL2RGJOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY, 2021, 31 (01) : 69 - +Ogawa, A.论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Dept Pediat, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, Japan Shinshu Univ, Dept Pediat, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, JapanWatanabe, T.论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Dept Pediat, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, Japan Shinshu Univ, Dept Pediat, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, JapanNatsume, T.论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Dept Pediat, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, Japan Shinshu Univ, Dept Pediat, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, JapanOkura, E.论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Dept Pediat, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, Japan Shinshu Univ, Dept Pediat, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, Japan论文数: 引用数: h-index:机构:Kato, S.论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Dept Pediat, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, Japan Shinshu Univ, Dept Pediat, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, Japan论文数: 引用数: h-index:机构:Furukawa, S.论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ Hosp, Dept Lab Med, Matsumoto, Nagano, Japan Shinshu Univ, Dept Pediat, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, JapanYamaguchi, T.论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Dept Med Genet, Sch Med, Matsumoto, Nagano, Japan Shinshu Univ Hosp, Ctr Med Genet, Matsumoto, Nagano, Japan Shinshu Univ, Dept Pediat, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, JapanKosho, T.论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Dept Med Genet, Sch Med, Matsumoto, Nagano, Japan Shinshu Univ Hosp, Ctr Med Genet, Matsumoto, Nagano, Japan Shinshu Univ, Dept Pediat, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, JapanUehara, T.论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ Hosp, Dept Lab Med, Matsumoto, Nagano, Japan Shinshu Univ, Dept Pediat, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, JapanKobayashi, N.论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Dept Pediat, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, Japan Shinshu Univ, Dept Pediat, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, JapanAgematsu, K.论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Dept Mol & Cellular Immunol, Sch Med, Matsumoto, Nagano, Japan Shinshu Univ, Dept Pediat, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, JapanNakazawa, Y.论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Dept Pediat, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, Japan Shinshu Univ, Dept Pediat, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, JapanShigemura, T.论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Dept Pediat, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, Japan Shinshu Univ, Dept Pediat, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, Japan
- [25] Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined ImmunodeficiencyJOURNAL OF CLINICAL IMMUNOLOGY, 2020, 40 (03) : 503 - 514Tuovinen, Elina A.论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Res Ctr, Helsinki, Finland Univ Helsinki, Translat Immunol Res Program, Helsinki, Finland Univ Helsinki, New Childrens Hosp, Rare Dis Ctr & Pediat Res Ctr, Helsinki, Finland HUS Helsinki Univ Hosp, Helsinki, Finland Folkhalsan Res Ctr, Helsinki, FinlandGronholm, Juha论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Translat Immunol Res Program, Helsinki, Finland Univ Helsinki, New Childrens Hosp, Rare Dis Ctr & Pediat Res Ctr, Helsinki, Finland HUS Helsinki Univ Hosp, Helsinki, Finland Folkhalsan Res Ctr, Helsinki, FinlandOhman, Tiina论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Syst Biol Res Grp, Inst Biotechnol, HiLIFE, Helsinki, Finland Univ Helsinki, Prote Unit, HiLIFE, Inst Biotechnol, Helsinki, Finland Folkhalsan Res Ctr, Helsinki, FinlandPoysti, Sakari论文数: 0 引用数: 0 h-index: 0机构: Univ Turku, Dept Clin Microbiol & Immunol, Turku Univ Hosp, Turku, Finland Univ Turku, Inst Biomed, Turku, Finland Folkhalsan Res Ctr, Helsinki, FinlandToivonen, Raine论文数: 0 引用数: 0 h-index: 0机构: Univ Turku, Dept Clin Microbiol & Immunol, Turku Univ Hosp, Turku, Finland Univ Turku, Inst Biomed, Turku, Finland Folkhalsan Res Ctr, Helsinki, FinlandKreutzman, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Translat Immunol Res Program, Helsinki, Finland Helsinki Univ Hosp, Hematol Res Unit Helsinki, Comprehens Canc Ctr, Helsinki, Finland Folkhalsan Res Ctr, Helsinki, FinlandHeiskanen, Kaarina论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, New Childrens Hosp, Rare Dis Ctr & Pediat Res Ctr, Helsinki, Finland HUS Helsinki Univ Hosp, Helsinki, Finland Folkhalsan Res Ctr, Helsinki, Finland论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Routes, John M.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Dept Pediat, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USA Folkhalsan Res Ctr, Helsinki, FinlandVerbsky, James论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Dept Pediat, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USA Folkhalsan Res Ctr, Helsinki, FinlandMustjoki, Satu论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Translat Immunol Res Program, Helsinki, Finland Helsinki Univ Hosp, Hematol Res Unit Helsinki, Comprehens Canc Ctr, Helsinki, Finland Univ Helsinki, Dept Clin Chem & Hematol, Helsinki, Finland Folkhalsan Res Ctr, Helsinki, FinlandSaarela, Janna论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Inst Mol Med Finland, HiLIFE, Helsinki, Finland Helsinki Univ Cent Hosp, Dept Med Genet, Helsinki, Finland Univ Oslo, Ctr Mol Med Norway, Oslo, Norway Folkhalsan Res Ctr, Helsinki, FinlandKere, Juha论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Res Ctr, Helsinki, Finland Karolinska Inst, Dept Biosci & Nutr, Stockholm, Sweden Univ Helsinki, Stem Cells & Metab Res Program, Helsinki, Finland Folkhalsan Res Ctr, Helsinki, Finland论文数: 引用数: h-index:机构:Hanninen, Arno论文数: 0 引用数: 0 h-index: 0机构: Univ Turku, Dept Clin Microbiol & Immunol, Turku Univ Hosp, Turku, Finland Univ Turku, Inst Biomed, Turku, Finland Folkhalsan Res Ctr, Helsinki, FinlandSeppanen, Mikko R. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Translat Immunol Res Program, Helsinki, Finland Univ Helsinki, New Childrens Hosp, Rare Dis Ctr & Pediat Res Ctr, Helsinki, Finland HUS Helsinki Univ Hosp, Helsinki, Finland Folkhalsan Res Ctr, Helsinki, Finland
- [26] Novel DNA variants in IL2RG gene identified in Slovak population of patients with X-linked combined immunodeficiencyEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 444 - 444Krasnanska, Gabriela论文数: 0 引用数: 0 h-index: 0机构: Univ St Cyril & Methodius, Dept Biol, Fac Nat Sci, Trnava, Slovakia Comenius Univ Sci Pk, Lab Genom Med, GHC GENETICS SK, Bratislava, Slovakia Univ St Cyril & Methodius, Dept Biol, Fac Nat Sci, Trnava, SlovakiaOstro, Robert论文数: 0 引用数: 0 h-index: 0机构: Pavol Jozef Safarik Univ, Dept Paediat, Ctr Inborn Errors Immun & Clin Genom, Fac Med, Kosice, Slovakia Childrens Fac Hosp Kosice, Kosice, Slovakia Univ St Cyril & Methodius, Dept Biol, Fac Nat Sci, Trnava, SlovakiaAndrejkova, Maria论文数: 0 引用数: 0 h-index: 0机构: Pavol Jozef Safarik Univ, Dept Paediat, Ctr Inborn Errors Immun & Clin Genom, Fac Med, Kosice, Slovakia Childrens Fac Hosp Kosice, Kosice, Slovakia Univ St Cyril & Methodius, Dept Biol, Fac Nat Sci, Trnava, SlovakiaWachsmannova, Lenka论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ Sci Pk, Lab Genom Med, GHC GENETICS SK, Bratislava, Slovakia Univ St Cyril & Methodius, Dept Biol, Fac Nat Sci, Trnava, SlovakiaBaldovic, Marian论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ Sci Pk, Lab Genom Med, GHC GENETICS SK, Bratislava, Slovakia Comenius Univ, Dept Mol Biol, Fac Nat Sci, Bratislava, Slovakia Univ St Cyril & Methodius, Dept Biol, Fac Nat Sci, Trnava, SlovakiaBlandova, Gabriela论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Inst Med Biol, Genet & Clin Genet, Fac Med, Bratislava, Slovakia Univ St Cyril & Methodius, Dept Biol, Fac Nat Sci, Trnava, SlovakiaElias, Vladimir论文数: 0 引用数: 0 h-index: 0机构: Univ St Cyril & Methodius, Dept Biol, Fac Nat Sci, Trnava, SlovakiaKozacikova, Renata论文数: 0 引用数: 0 h-index: 0机构: Univ St Cyril & Methodius, Dept Biol, Fac Nat Sci, Trnava, Slovakia Univ St Cyril & Methodius, Dept Biol, Fac Nat Sci, Trnava, Slovakia论文数: 引用数: h-index:机构:
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