Mendelian susceptibility to mycobacterial diseases: state of the art von Noma, Kosuke, Mizoguchi, Yoko, Tsumura, Miyuki, Okada, Satoshi

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Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations von 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

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A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS von 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

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Human gain-of-function STAT1 mutation disturbs IL-17 immunity in mice von 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

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Gain-of-function IKBKB mutation causes human combined immune deficiency von 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

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Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency von 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

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Downregulation of endothelial nitric oxide synthase (eNOS) and endothelin-1 (ET-1) in a co-culture system with human stimulated X-linked CGD neutrophils von Nakamura-Utsunomiya, Akari, Tsumura, Miyuki, Okada, Satoshi, Kawaguchi, Hiroshi, Kobayashi, Masao

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Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations von 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

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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 von Matsumura, Risa, Mochizuki, Shinji, Maruyama, Natsuki, Morishita, Yusuke, Kawaguchi, Hiroshi, Okada, Satoshi, Tsumura, Miyuki, Kaji, Shunsaku, Shimizu, Junya, Shimada, Akira, Kobayashi, Masao

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Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings von 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

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Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3 von 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

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IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation von 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

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A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency von Qin, Tao, Jia, Yanjun, Liu, Yuhang, Dai, Rongxin, Zhou, Lina, Okada, Satoshi, Tsumura, Miyuki, Ohnishi, Hidenori, Kato, Zenichiro, Kanegane, Hirokazu, Sun, Xiulian, Zhao, Xiaodong

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Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants von 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

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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 Jap... von Tajima, Go, Aisaki, Junko, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Sakura, Fumiaki, Sasai, Hideo, Yuasa, Miori, Shigematsu, Yosuke, Okada, Satoshi

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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 Speci... von Tajima, Go, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Sakura, Fumiaki, Sasai, Hideo, Yuasa, Miori, Shigematsu, Yosuke, Okada, Satoshi

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Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis von Hirata, Osamu, Okada, Satoshi, Tsumura, Miyuki, Kagawa, Reiko, Miki, Mizuka, Kawaguchi, Hiroshi, Nakamura, Kazuhiro, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Takihara, Yoshihiro, Kobayashi, Masao

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Correction to: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3 von 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

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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 von 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

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Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 ( STAT1 ) gain-of-funct... von Kataoka, Shinsuke, MD, Muramatsu, Hideki, MD, PhD, Okuno, Yusuke, MD, PhD, Hayashi, Yuta, MD, Mizoguchi, Yoko, MD, PhD, Tsumura, Miyuki, MD, PhD, Okada, Satoshi, MD, PhD, Kobayashi, Masao, MD, PhD, Sano, Chiaki, MD, PhD, Sato, Haruki, DDS, PhD, Oh-iwa, Ichiro, DDS, PhD, Ito, Masahumi, MD, PhD, Kojima, Daiei, MD, Hama, Asahito, MD, PhD, Takahashi, Yoshiyuki, MD, PhD, Kojima, Seiji, MD, PhD

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