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Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2021-11, Vol.12 (1), p.6819-6819, Article 6819
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Efficacy and safety of baricitinib in Japanese patients with autoinflammatory type I interferonopathies (NNS/CANDLE, SAVI, And AGS)
Author / Creator:Kanazawa, Nobuo ; Ishii, Taeko ; Takita, Yasushi ; Nishikawa, Atsushi ; Nishikomori, Ryuta
Publisher:England: BioMed Central Ltd
Journal title:Pediatric Rheumatology, 2023-04, Vol.21 (1), p.38-38, Article 38
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Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants
Author / Creator:Honda Yoshitaka ; Maeda Yukako ; Izawa Kazushi ; Shiba Takeshi ; Tanaka, Takayuki ; Haruna, Nakaseko ; Nishimura Keisuke ; Mukoyama Hiroki ; Isa-Nishitani Masahiko ; Miyamoto Takayuki ; Nihira Hiroshi ; Shibata Hirofumi ; Hiejima Eitaro ; Ohara Osamu ; Takita Junko ; Yasumi Takahiro ; Nishikomori Ryuta
Publisher:New York: Springer Nature B.V
Journal title:Journal of clinical immunology, 2021-08, Vol.41 (6), p.1187-1197
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ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era
Author / Creator:Shinar, Yael ; Ceccherini, Isabella ; Rowczenio, Dorota ; Aksentijevich, Ivona ; Arostegui, Juan ; Ben-Chétrit, Eldad ; Boursier, Guilaine ; Gattorno, Marco ; Hayrapetyan, Hasmik ; Ida, Hiroaki ; Kanazawa, Nobuo ; Lachmann, Helen J ; Mensa-Vilaro, Anna ; Nishikomori, Ryuta ; Oberkanins, Christian ; Obici, Laura ; Ohara, Osamu ; Ozen, Seza ; Sarkisian, Tamara ; Sheils, Katie ; Wolstenholme, Nicola ; Zonneveld-Huijssoon, Evelien ; van Gijn, Marielle E ; Touitou, Isabelle
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2020-04, Vol.66 (4), p.525-536
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Hematopoietic Cell Transplantation Ameliorates Autoinflammation in A20 Haploinsufficiency
Author / Creator:Shiraki Mayuka ; Williams, Eleri ; Yokoyama Norifumi ; Shinoda Kunihiro ; Nademi Zohreh ; Matsumoto Kana ; Nihira Hiroshi ; Honda Yoshitaka ; Izawa Kazushi ; Nishikomori Ryuta ; Slatter, Mary A ; Cant, Andrew J ; Gennery, Andrew R ; Ohnishi Hidenori ; Kanegane Hirokazu
Publisher:New York: Springer Nature B.V
Journal title:Journal of clinical immunology, 2021-11, Vol.41 (8), p.1954-1956
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Promoting awareness of terminology related to unmet medical needs in context of rheumatic diseases in Japan: a systematic review for evaluating unmet medical needs
Author / Creator:Yamazaki, Susumu ; Izawa, Kazushi ; Matsushita, Masakazu ; Moriichi, Akinori ; Kishida, Dai ; Yoshifuji, Hajime ; Yamaji, Ken ; Nishikomori, Ryuta ; Mori, Masaaki ; Miyamae, Takako
Publisher:Heidelberg: Springer Nature B.V
Journal title:Rheumatology international, 2023-11, Vol.43 (11), p.2021-2030
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Real-time single-cell imaging of protein secretion
Author / Creator:Shirasaki, Yoshitaka ; Yamagishi, Mai ; Suzuki, Nobutake ; Izawa, Kazushi ; Nakahara, Asahi ; Mizuno, Jun ; Shoji, Shuichi ; Heike, Toshio ; Harada, Yoshie ; Nishikomori, Ryuta ; Ohara, Osamu
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2014-04, Vol.4 (1), p.4736-4736, Article 4736
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Rescue of recurrent deep intronic mutation underlying cell type–dependent quantitative NEMO deficiency
Author / Creator:Boisson, Bertrand ; Honda, Yoshitaka ; Ajiro, Masahiko ; Bustamante, Jacinta ; Bendavid, Matthieu ; Gennery, Andrew R. ; Kawasaki, Yuri ; Ichishima, Jose ; Osawa, Mitsujiro ; Nihira, Hiroshi ; Shiba, Takeshi ; Tanaka, Takayuki ; Chrabieh, Maya ; Bigio, Benedetta ; Hur, Hong ; Itan, Yuval ; Liang, Yupu ; Okada, Satoshi ; Izawa, Kazushi ; Nishikomori, Ryuta ; Ohara, Osamu ; Heike, Toshio ; Abel, Laurent ; Puel, Anne ; Saito, Megumu K. ; Casanova, Jean-Laurent ; Hagiwara, Masatoshi ; Yasumi, Takahiro
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2019-02, Vol.129 (2), p.583-597
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Multiomic technologies for analyses of inborn errors of immunity: from snapshot of the average cell to dynamic temporal picture at single-cell resolution
Author / Creator:Kawashima, Yusuke ; Nishikomori, Ryuta ; Ohara, Osamu
Publisher:England: BioMed Central
Journal title:Inflammation and regeneration, 2021-07, Vol.41 (1), p.19-19
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Influence of post-transplant mucosal-associated invariant T cell recovery on the development of acute graft-versus-host disease in allogeneic bone marrow transplantation
Author / Creator:Kawaguchi, Koji ; Umeda, Katsutsugu ; Hiejima, Eitaro ; Iwai, Atsushi ; Mikami, Masamitsu ; Nodomi, Seishiro ; Saida, Satoshi ; Kato, Itaru ; Hiramatsu, Hidefumi ; Yasumi, Takahiro ; Nishikomori, Ryuta ; Kondo, Tadakazu ; Takaori-Kondo, Akifumi ; Toshio Heike ; Adachi, Souichi
Publisher:Tokyo: Springer Nature B.V
Journal title:International journal of hematology, 2018-07, Vol.108 (1), p.66-75
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Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases
Author / Creator:Ono, Rintaro ; Tsumura, Miyuki ; Shima, Saho ; Matsuda, Yusuke ; Gotoh, Kenji ; Miyata, Yurina ; Yoto, Yuko ; Tomomasa, Dan ; Utsumi, Takanori ; Ohnishi, Hidenori ; Kato, Zenichiro ; Ishiwada, Naruhiko ; Ishikawa, Aki ; Wada, Taizo ; Uhara, Hisashi ; Nishikomori, Ryuta ; Hasegawa, Daisuke ; Okada, Satoshi ; Kanegane, Hirokazu
Publisher:New York: Springer Nature B.V
Journal title:Journal of clinical immunology, 2023-02, Vol.43 (2), p.466-478
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Necrotizing Funisitis as an Intrauterine manifestation of Cryopyrin-Associated Periodic Syndrome: a case report and review of the literature
Author / Creator:Yokoi, Kyoko ; Minamiguchi, Sachiko ; Honda, Yoshitaka ; Kobayashi, Mizuho ; Kobayashi, Satoru ; Nishikomori, Ryuta
Publisher:London: BioMed Central Ltd
Journal title:Pediatric Rheumatology, 2021-05, Vol.19 (1), p.1-77, Article 77
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Ultrasound and biopsy findings in arthritis with familial Mediterranean fever
Author / Creator:Yamada, Yutaro ; Inui, Kentaro ; Okano, Tadashi ; Mandai, Koji ; Nishikomori, Ryuta ; Nakamura, Hiroaki ; Tsuruta, Daisuke
Publisher:Singapore: Springer Singapore
Journal title:Journal of medical ultrasonics (2001), 2022-01, Vol.49 (1), p.115-116
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A novel mutation in early‐onset sarcoidosis/Blau syndrome: an association with Propionibacterium acnes
Author / Creator:Okazaki, Fumiko ; Wakiguchi, Hiroyuki ; Korenaga, Yuno ; Nakamura, Tamaki ; Yasudo, Hiroki ; Uchi, Shohei ; Yanai, Ryoji ; Asano, Nobuyuki ; Hoshii, Yoshinobu ; Tanabe, Tsuyoshi ; Izawa, Kazushi ; Honda, Yoshitaka ; Nishikomori, Ryuta ; Uchida, Keisuke ; Eishi, Yoshinobu ; Ohga, Shouichi ; Hasegawa, Shunji
Publisher:England: BioMed Central Ltd
Journal title:Pediatric Rheumatology, 2021-02, Vol.19 (1), p.18-8, Article 18
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NOD2 Mutation-Associated Case with Blau Syndrome Triggered by BCG Vaccination
Author / Creator:Arakawa, Akiko ; Kambe, Naotomo ; Nishikomori, Ryuta ; Tanabe, Akiyo ; Ueda, Masamichi ; Nishigori, Chikako ; Miyachi, Yoshiki ; Kanazawa, Nobuo
Publisher:Basel: MDPI AG
Journal title:Children (Basel), 2021-02, Vol.8 (2), p.117
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A CD57+ CTL Degranulation Assay Effectively Identifies Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients
Author / Creator:Hori, Masayuki ; Yasumi, Takahiro ; Shimodera, Saeko ; Shibata, Hirofumi ; Hiejima, Eitaro ; Oda, Hirotsugu ; Izawa, Kazushi ; Kawai, Tomoki ; Ishimura, Masataka ; Nakano, Naoko ; Shirakawa, Ryutaro ; Nishikomori, Ryuta ; Takada, Hidetoshi ; Morita, Satoshi ; Horiuchi, Hisanori ; Ohara, Osamu ; Ishii, Eiichi ; Heike, Toshio
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2017-01, Vol.37 (1), p.92-99
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Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome
Author / Creator:Ikeda, Kei ; Kambe, Naotomo ; Takei, Syuji ; Nakano, Taiji ; Inoue, Yuzaburo ; Tomiita, Minako ; Oyake, Natsuko ; Satoh, Takashi ; Yamatou, Tsuyoshi ; Kubota, Tomohiro ; Okafuji, Ikuo ; Kanazawa, Nobuo ; Nishikomori, Ryuta ; Shimojo, Naoki ; Matsue, Hiroyuki ; Nakajima, Hiroshi
Publisher:England: BioMed Central Ltd
Journal title:Arthritis research & therapy, 2014-04, Vol.16 (2), p.R89-R89, Article R89
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Plasma infliximab monitoring contributes to optimize Takayasu arteritis treatment: a case report
Author / Creator:Masui, Sho ; Yonezawa, Atsushi ; Izawa, Kazushi ; Hayakari, Makoto ; Asakura, Kayoko ; Taniguchi, Risa ; Isa, Masahiko ; Shibata, Hirofumi ; Yasumi, Takahiro ; Nishikomori, Ryuta ; Takita, Junko ; Matsubara, Kazuo
Publisher:England: BioMed Central Ltd
Journal title:Journal of pharmaceutical health care and sciences, 2019-05, Vol.5 (1), p.9-4, Article 9
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Characterization of NLRP3 Variants in Japanese Cryopyrin-Associated Periodic Syndrome Patients
Author / Creator:Ohnishi, Hidenori ; Teramoto, Takahide ; Iwata, Hiroaki ; Kato, Zenichiro ; Kimura, Takeshi ; Kubota, Kazuo ; Nishikomori, Ryuta ; Kaneko, Hideo ; Seishima, Mariko ; Kondo, Naomi
Publisher:Boston: Springer US
Journal title:Journal of clinical immunology, 2012-04, Vol.32 (2), p.221-229
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STAT4 Serine Phosphorylation Is Critical for IL-12-Induced IFN-γ Production but not for Cell Proliferation
Author / Creator:Morinobu, Akio ; Gadina, Massimo ; Strober, Warren ; Visconti, Roberta ; Fornace, Albert ; Montagna, Cristina ; Feldman, Gerald M. ; Nishikomori, Ryuta ; O'Shea, John J.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2002-09, Vol.99 (19), p.12281-12286
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Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency

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Efficacy and safety of baricitinib in Japanese patients with autoinflammatory type I interferonopathies (NNS/CANDLE, SAVI, And AGS)

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Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants

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ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era

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Hematopoietic Cell Transplantation Ameliorates Autoinflammation in A20 Haploinsufficiency

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Promoting awareness of terminology related to unmet medical needs in context of rheumatic diseases in Japan: a systematic review for evaluating unmet medical needs

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Real-time single-cell imaging of protein secretion

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Rescue of recurrent deep intronic mutation underlying cell type–dependent quantitative NEMO deficiency

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Multiomic technologies for analyses of inborn errors of immunity: from snapshot of the average cell to dynamic temporal picture at single-cell resolution

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Influence of post-transplant mucosal-associated invariant T cell recovery on the development of acute graft-versus-host disease in allogeneic bone marrow transplantation

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Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases

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Necrotizing Funisitis as an Intrauterine manifestation of Cryopyrin-Associated Periodic Syndrome: a case report and review of the literature

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Ultrasound and biopsy findings in arthritis with familial Mediterranean fever

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A novel mutation in early‐onset sarcoidosis/Blau syndrome: an association with Propionibacterium acnes

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NOD2 Mutation-Associated Case with Blau Syndrome Triggered by BCG Vaccination

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A CD57+ CTL Degranulation Assay Effectively Identifies Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients

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Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome

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Plasma infliximab monitoring contributes to optimize Takayasu arteritis treatment: a case report

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Characterization of NLRP3 Variants in Japanese Cryopyrin-Associated Periodic Syndrome Patients

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STAT4 Serine Phosphorylation Is Critical for IL-12-Induced IFN-γ Production but not for Cell Proliferation

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