Mendelian susceptibility to mycobacterial diseases: state of the art
Noma, Kosuke, Mizoguchi, Yoko, Tsumura, Miyuki, Okada, Satoshi
Published in Clinical microbiology and infection (01.11.2022)
Published in Clinical microbiology and infection (01.11.2022)
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Journal Article
Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations
Sakata, Sonoko, Tsumura, Miyuki, Matsubayashi, Tadashi, Karakawa, Shuhei, Kimura, Shunsuke, Tamaura, Moe, Okano, Tsubasa, Naruto, Takuya, Mizoguchi, Yoko, Kagawa, Reiko, Nishimura, Shiho, Imai, Kohsuke, Le Voyer, Tom, Casanova, Jean-Laurent, Bustamante, Jacinta, Morio, Tomohiro, Ohara, Osamu, Kobayashi, Masao, Okada, Satoshi
Published in International immunology (30.09.2020)
Published in International immunology (30.09.2020)
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A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS
Yamashita, Motoi, Kuehn, Hye Sun, Okuyama, Kazuki, Okada, Satoshi, Inoue, Yuzaburo, Mitsuiki, Noriko, Imai, Kohsuke, Takagi, Masatoshi, Kanegane, Hirokazu, Takeuchi, Masahiro, Shimojo, Naoki, Tsumura, Miyuki, Padhi, Aditya K, Zhang, Kam Y J, Boisson, Bertrand, Casanova, Jean-Laurent, Ohara, Osamu, Rosenzweig, Sergio D, Taniuchi, Ichiro, Morio, Tomohiro
Published in Nature immunology (01.07.2021)
Published in Nature immunology (01.07.2021)
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Journal Article
Human gain-of-function STAT1 mutation disturbs IL-17 immunity in mice
Tamaura, Moe, Satoh-Takayama, Naoko, Tsumura, Miyuki, Sasaki, Takaharu, Goda, Satoshi, Kageyama, Tomoko, Hayakawa, Seiichi, Kimura, Shunsuke, Asano, Takaki, Nakayama, Manabu, Koseki, Haruhiko, Ohara, Osamu, Okada, Satoshi, Ohno, Hiroshi, Kobayashi, Masao
Published in International immunology (12.04.2020)
Published in International immunology (12.04.2020)
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Journal Article
Gain-of-function IKBKB mutation causes human combined immune deficiency
Cardinez, Chelisa, Miraghazadeh, Bahar, Tanita, Kay, da Silva, Elizabeth, Hoshino, Akihiro, Okada, Satoshi, Chand, Rochna, Asano, Takaki, Tsumura, Miyuki, Yoshida, Kenichi, Ohnishi, Hidenori, Kato, Zenichiro, Yamazaki, Masahide, Okuno, Yusuke, Miyano, Satoru, Kojima, Seiji, Ogawa, Seishi, Andrews, T Daniel, Field, Matthew A, Burgio, Gaetan, Morio, Tomohiro, Vinuesa, Carola G, Kanegane, Hirokazu, Cook, Matthew C
Published in The Journal of experimental medicine (05.11.2018)
Published in The Journal of experimental medicine (05.11.2018)
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Journal Article
Downregulation of endothelial nitric oxide synthase (eNOS) and endothelin-1 (ET-1) in a co-culture system with human stimulated X-linked CGD neutrophils
Nakamura-Utsunomiya, Akari, Tsumura, Miyuki, Okada, Satoshi, Kawaguchi, Hiroshi, Kobayashi, Masao
Published in PloS one (2020)
Published in PloS one (2020)
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Journal Article
Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations
Hoshino, Akihiro, MD, PhD, Okada, Satoshi, MD, PhD, Yoshida, Kenichi, MD, PhD, Nishida, Naonori, MD, PhD, Okuno, Yusuke, MD, PhD, Ueno, Hiroo, MD, Yamashita, Motoi, MD, Okano, Tsubasa, MD, Tsumura, Miyuki, PhD, Nishimura, Shiho, MD, Sakata, Sonoko, MD, Kobayashi, Masao, MD, PhD, Nakamura, Haruna, MD, Kamizono, Junji, MD, PhD, Mitsui-Sekinaka, Kanako, MD, Ichimura, Takuya, MD, Ohga, Shouichi, MD, PhD, Nakazawa, Yozo, MD, PhD, Takagi, Masatoshi, MD, PhD, Imai, Kohsuke, MD, PhD, Shiraishi, Yuichi, MD, PhD, Chiba, Kenichi, BA, Tanaka, Hiroko, BS, Miyano, Satoru, PhD, Ogawa, Seishi, MD, PhD, Kojima, Seiji, MD, PhD, Nonoyama, Shigeaki, MD, PhD, Morio, Tomohiro, MD, PhD, Kanegane, Hirokazu, MD, PhD
Published in Journal of allergy and clinical immunology (01.07.2017)
Published in Journal of allergy and clinical immunology (01.07.2017)
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Journal Article
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency
Kanazawa, Nobuo, Hemmi, Hiroaki, Kinjo, Noriko, Ohnishi, Hidenori, Hamazaki, Jun, Mishima, Hiroyuki, Kinoshita, Akira, Mizushima, Tsunehiro, Hamada, Satoru, Hamada, Kazuya, Kawamoto, Norio, Kadowaki, Saori, Honda, Yoshitaka, Izawa, Kazushi, Nishikomori, Ryuta, Tsumura, Miyuki, Yamashita, Yusuke, Tamura, Shinobu, Orimo, Takashi, Ozasa, Toshiya, Kato, Takashi, Sasaki, Izumi, Fukuda-Ohta, Yuri, Wakaki-Nishiyama, Naoko, Inaba, Yutaka, Kunimoto, Kayo, Okada, Satoshi, Taketani, Takeshi, Nakanishi, Koichi, Murata, Shigeo, Yoshiura, Koh-Ichiro, Kaisho, Tsuneyasu
Published in Nature communications (24.11.2021)
Published in Nature communications (24.11.2021)
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Bone marrow transplantation from a human leukocyte antigen-mismatched unrelated donor in a case with C1q deficiency associated with refractory systemic lupus erythematosus
Matsumura, Risa, Mochizuki, Shinji, Maruyama, Natsuki, Morishita, Yusuke, Kawaguchi, Hiroshi, Okada, Satoshi, Tsumura, Miyuki, Kaji, Shunsaku, Shimizu, Junya, Shimada, Akira, Kobayashi, Masao
Published in International journal of hematology (01.02.2021)
Published in International journal of hematology (01.02.2021)
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Journal Article
Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings
Imanaka, Yusuke, Taniguchi, Maki, Doi, Takehiko, Tsumura, Miyuki, Nagaoka, Rie, Shimomura, Maiko, Asano, Takaki, Kagawa, Reiko, Mizoguchi, Yoko, Karakawa, Shuhei, Arihiro, Koji, Imai, Kohsuke, Morio, Tomohiro, Casanova, Jean-Laurent, Puel, Anne, Ohara, Osamu, Kamei, Katsuhiko, Kobayashi, Masao, Okada, Satoshi
Published in Journal of clinical immunology (01.07.2021)
Published in Journal of clinical immunology (01.07.2021)
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Journal Article
Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3
Tanita, Kay, Sakura, Fumiaki, Nambu, Ryusuke, Tsumura, Miyuki, Imanaka, Yusuke, Ohnishi, Hidenori, Kato, Zenichiro, Pan, Jie, Hoshino, Akihiro, Suzuki, Koji, Yasutomi, Motoko, Umetsu, Shuichiro, Okada, Chizuru, Takagi, Masatoshi, Imai, Kohsuke, Ohara, Osamu, Muise, Alexo M., Okada, Satoshi, Morio, Tomohiro, Kanegane, Hirokazu
Published in Journal of clinical immunology (01.05.2021)
Published in Journal of clinical immunology (01.05.2021)
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Journal Article
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation
Nishimura, Shiho, Kobayashi, Yoshiyuki, Ohnishi, Hidenori, Moriya, Kunihiko, Tsumura, Miyuki, Sakata, Sonoko, Mizoguchi, Yoko, Takada, Hidetoshi, Kato, Zenichiro, Sancho-Shimizu, Vanessa, Picard, Capucine, Irani, Sarosh R., Ohara, Osamu, Casanova, Jean-Laurent, Puel, Anne, Ishikawa, Nobutsune, Okada, Satoshi, Kobayashi, Masao
Published in Journal of clinical immunology (01.01.2021)
Published in Journal of clinical immunology (01.01.2021)
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Journal Article
Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants
Kagawa, Reiko, MD, Fujiki, Ryoji, MS, Tsumura, Miyuki, PhD, Sakata, Sonoko, MD, Nishimura, Shiho, MD, Itan, Yuval, PhD, Kong, Xiao-Fei, MD, PhD, Kato, Zenichiro, MD, PhD, Ohnishi, Hidenori, MD, PhD, Hirata, Osamu, MD, PhD, Saito, Satoshi, MD, Ikeda, Maiko, MD, El Baghdadi, Jamila, PhD, Bousfiha, Aziz, MD, Fujiwara, Kaori, MD, Oleastro, Matias, MD, Yancoski, Judith, PhD, Perez, Laura, BSc, Danielian, Silvia, PhD, Ailal, Fatima, MD, Takada, Hidetoshi, MD, PhD, Hara, Toshiro, MD, PhD, Puel, Anne, PhD, Boisson-Dupuis, Stéphanie, PhD, Bustamante, Jacinta, MD, PhD, Casanova, Jean-Laurent, MD, PhD, Ohara, Osamu, PhD, Okada, Satoshi, MD, PhD, Kobayashi, Masao, MD, PhD
Published in Journal of allergy and clinical immunology (01.07.2017)
Published in Journal of allergy and clinical immunology (01.07.2017)
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Journal Article
A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency
Qin, Tao, Jia, Yanjun, Liu, Yuhang, Dai, Rongxin, Zhou, Lina, Okada, Satoshi, Tsumura, Miyuki, Ohnishi, Hidenori, Kato, Zenichiro, Kanegane, Hirokazu, Sun, Xiulian, Zhao, Xiaodong
Published in Frontiers in immunology (15.02.2021)
Published in Frontiers in immunology (15.02.2021)
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Journal Article
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan
Tajima, Go, Aisaki, Junko, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Sakura, Fumiaki, Sasai, Hideo, Yuasa, Miori, Shigematsu, Yosuke, Okada, Satoshi
Published in International journal of neonatal screening (20.02.2024)
Published in International journal of neonatal screening (20.02.2024)
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Journal Article
Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity
Tajima, Go, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Sakura, Fumiaki, Sasai, Hideo, Yuasa, Miori, Shigematsu, Yosuke, Okada, Satoshi
Published in International journal of neonatal screening (27.10.2023)
Published in International journal of neonatal screening (27.10.2023)
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Journal Article
Correction to: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3
Tanita, Kay, Sakura, Fumiaki, Nambu, Ryusuke, Tsumura, Miyuki, Imanaka, Yusuke, Ohnishi, Hidenori, Kato, Zenichiro, Pan, Jie, Hoshino, Akihiro, Suzuki, Koji, Yasutomi, Motoko, Umetsu, Shuichiro, Okada, Chizuru, Takagi, Masatoshi, Imai, Kohsuke, Ohara, Osamu, Muise, Alexo M., Okada, Satoshi, Morio, Tomohiro, Kanegane, Hirokazu
Published in Journal of clinical immunology (01.05.2021)
Published in Journal of clinical immunology (01.05.2021)
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Journal Article
Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis
Hirata, Osamu, Okada, Satoshi, Tsumura, Miyuki, Kagawa, Reiko, Miki, Mizuka, Kawaguchi, Hiroshi, Nakamura, Kazuhiro, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Takihara, Yoshihiro, Kobayashi, Masao
Published in Haematologica (Roma) (01.10.2013)
Published in Haematologica (Roma) (01.10.2013)
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Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity
Tajima, Go, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Okada, Satoshi, Sakura, Nobuo, Maruyama, Shinsuke, Noguchi, Atsuko, Awaya, Tomonari, Ishige, Mika, Ishige, Nobuyuki, Musha, Ikuma, Ajihara, Sayaka, Ohtake, Akira, Naito, Etsuo, Hamada, Yusuke, Kono, Tomotaka, Asada, Tomoko, Sasai, Hideo, Fukao, Toshiyuki, Fujiki, Ryoji, Ohara, Osamu, Bo, Ryosuke, Yamada, Kenji, Kobayashi, Hironori, Hasegawa, Yuki, Yamaguchi, Seiji, Takayanagi, Masaki, Hata, Ikue, Shigematsu, Yosuke, Kobayashi, Masao
Published in Molecular genetics and metabolism (01.11.2017)
Published in Molecular genetics and metabolism (01.11.2017)
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Journal Article
A case of very long chain acyl-CoA dehydrogenase deficiency diagnosed due to a trigger of hyperemesis gravidarum during pregnancy
Shiraishi, Wataru, Tateishi, Takahisa, Hayashida, Shotaro, Tajima, Go, Tsumura, Miyuki, Isobe, Noriko
Published in Rinsho Shinkeigaku (25.10.2023)
Published in Rinsho Shinkeigaku (25.10.2023)
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