Works by Yasumi, Takahiro

Results: 66

RUNX inhibitor suppresses graft‐versus‐host disease through targeting RUNX‐NFATC2 axis.

Published in:

EJHaem, 2021, v. 2, n. 3, p. 449, doi. 10.1002/jha2.230

By:

Kubota, Hirohito;
Masuda, Tatsuya;
Noura, Mina;
Furuichi, Kana;
Matsuo, Hidemasa;
Hirata, Masahiro;
Kataoka, Tatsuki R.;
Hiramatsu, Hidefumi;
Yasumi, Takahiro;
Nakahata, Tatsutoshi;
Imai, Yoichi;
Takita, Junko;
Adachi, Souichi;
Sugiyama, Hiroshi;
Kamikubo, Yasuhiko

Publication type:

Article

EBV‐associated lymphoproliferative disorder in a patient with X‐linked severe combined immunodeficiency with multiple reversions of an IL2RG mutation in T cells.

Published in:

EJHaem, 2020, v. 1, n. 2, p. 581, doi. 10.1002/jha2.119

By:

Wada, Fumiya;
Kondo, Tadakazu;
Nakamura, Momoko;
Uno, Shunsuke;
Fujimoto, Masakazu;
Miyamoto, Takayuki;
Honda, Yoshitaka;
Shibata, Hirofumi;
Izawa, Kazushi;
Yasumi, Takahiro;
Nishikori, Momoko;
Takaori‐Kondo, Akifumi

Publication type:

Article

Transitioning from paediatric to adult rheumatological healthcare: English summary of the Japanese Transition Support Guide.

Published in:

Modern Rheumatology, 2022, v. 32, n. 2, p. 248, doi. 10.1093/mr/roab071

By:

Masaaki Mori;
Shinji Akioka;
Toru Igarashi;
Yuzaburo Inoue;
Hiroaki Umebayashi;
Shiro Ohshima;
Susumu Nishiyama;
Motomu Hashimoto;
Toshihiro Matsui;
Takako Miyamae;
Takahiro Yasumi

Publication type:

Article

National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.

Published in:

Modern Rheumatology, 2019, v. 29, n. 1, p. 181, doi. 10.1080/14397595.2018.1442639

By:

Takayuki Tanaka;
Kohei Yoshioka;
Ryuta Nishikomori;
Hidemasa Sakai;
Junya Abe;
Yuriko Yamashita;
Ryugo Hiramoto;
Akira Morimoto;
Eiichi Ishii;
Hirokazu Arakawa;
Utako Kaneko;
Yusei Ohshima;
Nami Okamoto;
Osamu Ohara;
Ikue Hata;
Yosuke Shigematsu;
Tomoki Kawai;
Takahiro Yasumi;
Toshio Heike

Publication type:

Article

Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation.

Published in:

Modern Rheumatology, 2011, v. 21, n. 6, p. 641, doi. 10.3109/s10165-011-0442-7

By:

Tahara, Masahiro;
Sakai, Hidemasa;
Nishikomori, Ryuta;
Yasumi, Takahiro;
Heike, Toshio;
Nagata, Ikuo;
Inui, Ayano;
Fujisawa, Tomoo;
Shigematsu, Yosuke;
Nishijima, Koji;
Kuwakado, Katsuji;
Watabe, Shinichi;
Kameyama, Junji

Publication type:

Article

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

Published in:

Journal of Pharmaceutical Health Care & Sciences, 2019, v. 5, n. 1, p. N.PAG, doi. 10.1186/s40780-019-0136-4

By:

Masui, Sho;
Yonezawa, Atsushi;
Izawa, Kazushi;
Hayakari, Makoto;
Asakura, Kayoko;
Taniguchi, Risa;
Isa, Masahiko;
Shibata, Hirofumi;
Yasumi, Takahiro;
Nishikomori, Ryuta;
Takita, Junko;
Matsubara, Kazuo

Publication type:

Article

Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-54294-y

By:

Iannuzzo, Alberto;
Delafontaine, Selket;
El Masri, Rana;
Tacine, Rachida;
Prencipe, Giusi;
Nishitani-Isa, Masahiko;
van Wijck, Rogier T. A.;
Bhuyan, Farzana;
de Jesus Rasheed, Adriana A.;
Coppola, Simona;
van Daele, Paul L. A.;
Insalaco, Antonella;
Goldbach-Mansky, Raphaela;
Yasumi, Takahiro;
Tartaglia, Marco;
Meyts, Isabelle;
Delon, Jérôme

Publication type:

Article

Tocilizumab modifies clinical and laboratory features of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis.

Published in:

Pediatric Rheumatology, 2020, v. 18, n. 1, p. 1, doi. 10.1186/s12969-020-0399-1

By:

Shimizu, Masaki;
Mizuta, Mao;
Okamoto, Nami;
Yasumi, Takahiro;
Iwata, Naomi;
Umebayashi, Hiroaki;
Okura, Yuka;
Kinjo, Noriko;
Kubota, Tomohiro;
Nakagishi, Yasuo;
Nishimura, Kenichi;
Mohri, Mariko;
Yashiro, Masato;
Yasumura, Junko;
Wakiguchi, Hiroyuki;
Mori, Masaaki

Publication type:

Article

Clinical features and characteristics of uveitis associated with juvenile idiopathic arthritis in Japan: first report of the pediatric rheumatology association of Japan (PRAJ).

Published in:

Pediatric Rheumatology, 2019, v. 17, n. 1, p. N.PAG, doi. 10.1186/s12969-019-0318-5

By:

Yasumura, Junko;
Yashiro, Masato;
Okamoto, Nami;
Shabana, Kosuke;
Umebayashi, Hiroaki;
Iwata, Naomi;
Okura, Yuka;
Kubota, Tomohiro;
Shimizu, Masaki;
Tomiita, Minako;
Nakagishi, Yasuo;
Nishimura, Kenichi;
Hara, Ryoki;
Mizuta, Mao;
Yasumi, Takahiro;
Yamaide, Fumiya;
Wakiguchi, Hiroyuki;
Kobayashi, Masao;
Mori, Masaaki

Publication type:

Article

Retrospective nationwide survey of pediatric RDD in Japan: a high prevalence of mutations in the kinase pathway genes.

Published in:

International Journal of Hematology, 2025, v. 122, n. 1, p. 128, doi. 10.1007/s12185-025-03962-w

By:

Asano, Takeshi;
Morimoto, Akira;
Nakazawa, Atsuko;
Ueda, Takahiro;
Ogawa, Chitose;
Sakata, Naoki;
Sugimoto, Keisuke;
On, Jotaro;
Takahashi, Yoshiyuki;
Otsuki, Naoki;
Taneyama, Yuichi;
Hyakuna, Nobuyuki;
Ishihara, Takashi;
Matsumine, Akihiko;
Shioda, Yoko;
Sakamoto, Kenichi;
Nakazawa, Yozo;
Yasumi, Takahiro;
Doi, Takehiko;
Koga, Yuhki

Publication type:

Article

DLI-induced remission in recurrent EBV-associated T/NK-cell lymphoproliferative disease following HSCT: a case report.

Published in:

International Journal of Hematology, 2025, v. 121, n. 6, p. 862, doi. 10.1007/s12185-025-03965-7

By:

Nagata, Toru;
Kubota, Hirohito;
Kato, Itaru;
Izawa, Kazushi;
Akazawa, Ryo;
Jo, Tomoyasu;
Arai, Yasuyuki;
Azumi, Shohei;
Kamitori, Tatsuya;
Saida, Satoshi;
Umeda, Katsutsugu;
Imadome, Ken-Ichi;
Yasumi, Takahiro;
Hiramatsu, Hidefumi;
Takita, Junko

Publication type:

Article

Early hematopoietic cell transplantation for familial hemophagocytic lymphohistiocytosis in a regional treatment network in Japan.

Published in:

International Journal of Hematology, 2024, v. 119, n. 5, p. 592, doi. 10.1007/s12185-024-03721-3

By:

Ishimura, Masataka;
Eguchi, Katsuhide;
Sonoda, Motoshi;
Tanaka, Tamami;
Shiraishi, Akira;
Sakai, Yasunari;
Yasumi, Takahiro;
Miyamoto, Takayuki;
Voskoboinik, Ilia;
Hashimoto, Kunio;
Matsumoto, Shirou;
Ozono, Shuichi;
Moritake, Hiroshi;
Takada, Hidetoshi;
Ohga, Shouichi

Publication type:

Article

Outcomes in children with hemophagocytic lymphohistiocytosis treated using HLH-2004 protocol in Japan.

Published in:

2019

By:

Yanagisawa, Ryu;
Nakazawa, Yozo;
Matsuda, Kazuyuki;
Yasumi, Takahiro;
Kanegane, Hirokazu;
Ohga, Shouichi;
Morimoto, Akira;
Hashii, Yoshiko;
Imaizumi, Masue;
Okamoto, Yasuhiro;
Saito, Akiko M.;
Horibe, Keizo;
Ishii, Eiichi;
HLH/LCH committee members of the Japan Children's Cancer Group;
HLH/LCH committee members of the Japan Children’s Cancer Group

Publication type:

journal article

Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.

Published in:

2018

By:

Ono, Shintaro;
Nakayama, Manabu;
Kanegane, Hirokazu;
Hoshino, Akihiro;
Shimodera, Saeko;
Shibata, Hirofumi;
Fujino, Hisanori;
Fujino, Takahiro;
Yunomae, Yuta;
Okano, Tsubasa;
Yamashita, Motoi;
Yasumi, Takahiro;
Izawa, Kazushi;
Takagi, Masatoshi;
Imai, Kohsuke;
Zhang, Kejian;
Marsh, Rebecca;
Picard, Capucine;
Latour, Sylvain;
Ohara, Osamu

Publication type:

journal article

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

Published in:

2018

By:

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;
Heike, Toshio;
Adachi, Souichi

Publication type:

journal article

Hematopoietic stem cell transplantation with reduced intensity conditioning from a family haploidentical donor in an infant with familial hemophagocytic lymphohistocytosis.

Published in:

2011

By:

Ohta, Hideaki;
Miyashita, Emiko;
Hirata, Ikuko;
Matsumura, Risa;
Yoshida, Hisao;
Hashii, Yoshiko;
Higashiura, Takeshi;
Yasumi, Takahiro;
Murata, Yuuki;
Heike, Toshio;
Yang, Xi;
Kanegane, Hirokazu;
Ohara, Osamu;
Ozono, Keiichi

Publication type:

journal article

Second transplantation from HLA 2-loci-mismatched mother for graft failure due to hemophagocytic syndrome after cord blood transplantation.

Published in:

2004

By:

Tanaka, Takayuki;
Matsubara, Hiroshi;
Adachi, Souichi;
Chang, Hsi;
Fujino, Hisanori;
Higashi, Yuri;
Yasumi, Takahiro;
Kobayashi, Michihiro;
Watanabe, Ken-ichiro;
Takahashi, Munehisa;
Kobayashi, Yoshiro;
Maruya, Etsuko;
Saji, Hiroh;
Nakahata, Tatsutoshi

Publication type:

journal article

Reduced-intensity conditioning in unrelated donor cord blood transplantation for familial hemophagocytic lymphohistiocytosis.

Published in:

American Journal of Hematology, 2012, v. 87, n. 6, p. 637, doi. 10.1002/ajh.23190

By:

Nishi, Masanori;
Nishimura, Ryosei;
Suzuki, Nobuhiro;
Sawada, Akihisa;
Okamura, Takayuki;
Fujita, Naoto;
Kanai, Rie;
Yano, Jun;
Adachi, Souichi;
Yasumi, Takahiro;
Sato, Emiko;
Yasutomo, Koji;
Ishii, Eiichi;
Ohga, Shouichi

Publication type:

Article

Increased response to granulocyte-macrophage colony-stimulating factor in peripheral blood cells and transient manifestations mimicking juvenile myelomonocytic leukemia in a male patient with NEMO deficiency caused by a deep intronic pathogenic variant of IKBKG

Published in:

2025

By:

Ueki, Masahiro;
Hirabayashi, Shinsuke;
Honda, Yoshitaka;
Takezaki, Shunichiro;
Ohata, Hiroki;
Abdrabou, Shimaa Said Mohamed Ali;
Sawai, Saori;
Terashita, Yukayo;
Cho, Yuko;
Muramatsu, Hideki;
Izawa, Kazushi;
Yasumi, Takahiro;
Takahashi, Yoshiyuki;
Yamada, Masafumi;
Manabe, Atsushi

Publication type:

Case Study

A sporadic case of CTLA4 haploinsufficiency manifesting as Epstein-Barr virus-positive diffuse large B-cell lymphoma.

Published in:

Journal of Clinical & Experimental Hematopathology, 2022, v. 62, n. 1, p. 52, doi. 10.3960/jslrt.21026

By:

Hepei Yuan;
Momoko Nishikori;
Chiyoko Ueda;
Masakazu Fujimoto;
Takahiro Yasumi;
Yasuyuki Otsuka;
Toshio Kitawaki;
Masahiro Hirata;
Hironori Haga;
Hirokazu Kanegane;
Akifumi Takaori-Kondo

Publication type:

Article

Successful cord blood transplantation using reduced intensity conditioning in a 5‐month‐old patient with IL‐10RA deficiency.

Published in:

Pediatric Blood & Cancer, 2024, v. 71, n. 8, p. 1, doi. 10.1002/pbc.31056

By:

Isobe, Kiyotaka;
Saida, Satoshi;
Honda, Yoshitaka;
Nihira, Hiroshi;
Hiejima, Eitaro;
Izawa, Kazushi;
Kubota, Hirohito;
Kato, Itaru;
Umeda, Katsutsugu;
Hiramatsu, Hidefumi;
Yasumi, Takahiro;
Takita, Junko

Publication type:

Article

An efficient diagnosis: A patient with X‐linked inhibitor of apoptosis protein (XIAP) deficiency in the setting of infantile hemophagocytic lymphohistiocytosis was diagnosed using high serum interleukin‐18 combined with common laboratory parameters

Published in:

Pediatric Blood & Cancer, 2022, v. 69, n. 8, p. 1, doi. 10.1002/pbc.29606

By:

Higuchi, Toru;
Izawa, Kazushi;
Miyamoto, Takayuki;
Honda, Yoshitaka;
Nishiyama, Atsuko;
Shimizu, Masaki;
Takita, Junko;
Yasumi, Takahiro

Publication type:

Article

A case of fetal-onset type 3 familial hemophagocytic lymphohistiocytosis surviving without severe complications after early diagnosis and treatment.

Published in:

2021

By:

Matsumoto, Takashi;
Fukushima, Hiroko;
Fujiyama, Satoshi;
Nagatomo, Kumie;
Hosaka, Sho;
Suzuki, Ryoko;
Yamaki, Yuni;
Kanai, Yu;
Shibata, Hirofumi;
Yasumi, Takahiro;
Isshiki, Kyohei;
Kato, Motohiro;
Miyazono, Yayoi;
Takada, Hidetoshi

Publication type:

Case Study

Low-frequency mosaicism in cryopyrin-associated periodic fever syndrome: mosaicism in systemic autoinflammatory diseases.

Published in:

International Immunology, 2019, v. 31, n. 10, p. 649, doi. 10.1093/intimm/dxz047

By:

Nishikomori, Ryuta;
Izawa, Kazushi;
Kambe, Naotomo;
Ohara, Osamu;
Yasumi, Takahiro

Publication type:

Article

The CD40–CD40L axis and IFN-γ play critical roles in Langhans giant cell formation.

Published in:

International Immunology, 2012, v. 24, n. 1, p. 5, doi. 10.1093/intimm/dxr088

By:

Sakai, Hidemasa;
Okafuji, Ikuo;
Nishikomori, Ryuta;
Abe, Junya;
Izawa, Kazushi;
Kambe, Naotomo;
Yasumi, Takahiro;
Nakahata, Tatsutoshi;
Heike, Toshio

Publication type:

Article

Augmentation of Stimulator of Interferon Genes–Induced Type I Interferon Production in COPA Syndrome.

Published in:

Arthritis & Rheumatology, 2021, v. 73, n. 11, p. 2105, doi. 10.1002/art.41790

By:

Kato, Takashi;
Yamamoto, Masaki;
Honda, Yoshitaka;
Orimo, Takashi;
Sasaki, Izumi;
Murakami, Kohei;
Hemmi, Hiroaki;
Fukuda‐Ohta, Yuri;
Isono, Kyoichi;
Takayama, Saki;
Nakamura, Hidenori;
Otsuki, Yoshiro;
Miyamoto, Toshiaki;
Takita, Junko;
Yasumi, Takahiro;
Nishikomori, Ryuta;
Matsubayashi, Tadashi;
Izawa, Kazushi;
Kaisho, Tsuneyasu

Publication type:

Article

Enhanced Chondrogenesis of Induced Pluripotent Stem Cells From Patients With Neonatal-Onset Multisystem Inflammatory Disease Occurs via the Caspase 1-Independent cAMP/Protein Kinase A/CREB Pathway.

Published in:

Arthritis & Rheumatology, 2015, v. 67, n. 1, p. 302, doi. 10.1002/art.38912

By:

Yokoyama, Koji;
Ikeya, Makoto;
Umeda, Katsutsugu;
Oda, Hirotsugu;
Nodomi, Seishiro;
Nasu, Akira;
Matsumoto, Yoshihisa;
Izawa, Kazushi;
Horigome, Kazuhiko;
Kusaka, Toshimasa;
Tanaka, Takayuki;
Saito, Megumu K.;
Yasumi, Takahiro;
Nishikomori, Ryuta;
Ohara, Osamu;
Nakayama, Naoki;
Nakahata, Tatsutoshi;
Heike, Toshio;
Toguchida, Junya

Publication type:

Article

Effect of eczema on the association between season of birth and food allergy in Japanese children.

Published in:

Pediatrics International, 2013, v. 55, n. 1, p. 7, doi. 10.1111/j.1442-200X.2012.03725.x

By:

Kusunoki, Takashi;
Morimoto, Takeshi;
Sakuma, Mio;
Mukaida, Kumiko;
Yasumi, Takahiro;
Nishikomori, Ryuta;
Heike, Toshio

Publication type:

Article

Lipid A Analogue, ONO-4007, Inhibits IgE Response and Antigen-Induced Eosinophilic Recruitment into Airways in BALB/c Mice.

Published in:

International Archives of Allergy & Immunology, 2002, v. 127, n. 3, p. 217, doi. 10.1159/000053866

By:

Iio, Jun;
Katamura, Kenji;
Takeda, Hiroshi;
Ohmura, Kayo;
Yasumi, Takahiro;
Meguro, Taka-aki;
Ohshima, Yusei;
Nakahata, Tatsutoshi

Publication type:

Article

Diagnostic accuracy of endoscopic features of pediatric acute gastrointestinal graft-versus-host disease.

Published in:

Digestive Endoscopy, 2016, v. 28, n. 5, p. 548, doi. 10.1111/den.12604

By:

Hiejima, Eitaro;
Nakase, Hiroshi;
Matsuura, Minoru;
Honzawa, Yusuke;
Higuchi, Hirokazu;
Saida, Satoshi;
Umeda, Katsutsugu;
Hiramatsu, Hidefumi;
Adachi, Souichi;
Izawa, Kazushi;
Kawai, Tomoki;
Yasumi, Takahiro;
Nishikomori, Ryuta;
Heike, Toshio

Publication type:

Article

Partial Trisomy 9p with Clinical Symptoms Resembling Interferonopathies.

Published in:

2022

By:

Inoue, Yuzaburo;
Yamamoto, Takeshi;
Honda, Yoshitaka;
Izawa, Kazushi;
Yasumi, Takahiro

Publication type:

Letter

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

Published in:

Journal of Clinical Immunology, 2021, v. 41, n. 6, p. 1187, doi. 10.1007/s10875-021-01021-7

By:

Honda, Yoshitaka;
Maeda, Yukako;
Izawa, Kazushi;
Shiba, Takeshi;
Tanaka, Takayuki;
Nakaseko, Haruna;
Nishimura, Keisuke;
Mukoyama, Hiroki;
Isa-Nishitani, Masahiko;
Miyamoto, Takayuki;
Nihira, Hiroshi;
Shibata, Hirofumi;
Hiejima, Eitaro;
Ohara, Osamu;
Takita, Junko;
Yasumi, Takahiro;
Nishikomori, Ryuta

Publication type:

Article

Correction to: Helicobacter cinaedi-Associated Refractory Cellulitis in Patients with X-Linked Agammaglobulinemia.

Published in:

2021

By:

Inoue, Kento;
Sasaki, Saeko;
Yasumi, Takahiro;
Imai, Kohsuke;
Kusunoki, Takashi;
Morio, Tomohiro;
Kanegane, Hirokazu

Publication type:

Correction Notice

Helicobacter cinaedi-Associated Refractory Cellulitis in Patients with X-Linked Agammaglobulinemia.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 8, p. 1132, doi. 10.1007/s10875-020-00830-6

By:

Inoue, Kento;
Sasaki, Saeko;
Yasumi, Takahiro;
Imai, Kohsuke;
Kusunoki, Takashi;
Morio, Tomohiro;
Kanegane, Hirokazu

Publication type:

Article

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

Published in:

Journal of Clinical Immunology, 2017, v. 37, n. 1, p. 92, doi. 10.1007/s10875-016-0357-3

By:

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

Publication type:

Article

A Female Patient with Incomplete Hemophagocytic Lymphohistiocytosis Caused by a Heterozygous XIAP Mutation Associated with Non-Random X-Chromosome Inactivation Skewed Towards the Wild-Type XIAP Allele.

Published in:

Journal of Clinical Immunology, 2015, v. 35, n. 3, p. 244, doi. 10.1007/s10875-015-0144-6

By:

Yang, Xi;
Hoshino, Akihiro;
Taga, Takashi;
Kunitsu, Tomoaki;
Ikeda, Yuhachi;
Yasumi, Takahiro;
Yoshida, Kenichi;
Wada, Taizo;
Miyake, Kunio;
Kubota, Takeo;
Okuno, Yusuke;
Muramatsu, Hideki;
Adachi, Yuichi;
Miyano, Satoru;
Ogawa, Seishi;
Kojima, Seiji;
Kanegane, Hirokazu

Publication type:

Article

Autosomal Dominant Anhidrotic Ectodermal Dysplasia with Immunodeficiency Caused by a Novel NFKBIA Mutation, p.Ser36Tyr, Presents with Mild Ectodermal Dysplasia and Non-Infectious Systemic Inflammation.

Published in:

Journal of Clinical Immunology, 2013, v. 33, n. 7, p. 1165, doi. 10.1007/s10875-013-9924-z

By:

Yoshioka, Takakazu;
Nishikomori, Ryuta;
Hara, Junichi;
Okada, Keiko;
Hashii, Yoshiko;
Okafuji, Ikuo;
Nodomi, Seishiro;
Kawai, Tomoki;
Izawa, Kazushi;
Ohnishi, Hidenori;
Yasumi, Takahiro;
Nakahata, Tatsutoshi;
Heike, Toshio

Publication type:

Article

Multiple Reversions of an IL2RG Mutation Restore T cell Function in an X-linked Severe Combined Immunodeficiency Patient.

Published in:

Journal of Clinical Immunology, 2012, v. 32, n. 4, p. 690, doi. 10.1007/s10875-012-9684-1

By:

Kawai, Tomoki;
Saito, Megumu;
Nishikomori, Ryuta;
Yasumi, Takahiro;
Izawa, Kazushi;
Murakami, Tomohiko;
Okamoto, Shigefumi;
Mori, Yasuko;
Nakagawa, Noriko;
Imai, Kohsuke;
Nonoyama, Shigeaki;
Wada, Taizo;
Yachie, Akihiro;
Ohmori, Katsuyuki;
Nakahata, Tatsutoshi;
Heike, Toshio

Publication type:

Article

Hereditary angioedema with a novel mutation, c.1481G>C, in the SERPING1 gene.

Published in:

2021

By:

Takimoto‐Ito, Riko;
Kambe, Naotomo;
Izawa, Kazushi;
Yasumi, Takahiro;
Kabashima, Kenji

Publication type:

Case Study

Treatment for macrophage activation syndrome associated with systemic juvenile idiopathic arthritis in Japan.

Published in:

International Journal of Rheumatic Diseases, 2023, v. 26, n. 5, p. 938, doi. 10.1111/1756-185X.14681

By:

Shimizu, Masaki;
Nishimura, Kenichi;
Iwata, Naomi;
Yasumi, Takahiro;
Umebayashi, Hiroaki;
Nakagishi, Yasuo;
Okura, Yuka;
Okamoto, Nami;
Kinjo, Noriko;
Mizuta, Mao;
Yashiro, Masato;
Yasumura, Junko;
Wakiguchi, Hiroyuki;
Kubota, Tomohiro;
Mouri, Mariko;
Kaneko, Utako;
Mori, Masaaki

Publication type:

Article

Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing.

Published in:

DNA Research, 2012, v. 19, n. 2, p. 143, doi. 10.1093/dnares/dsr047

By:

Izawa, Kazushi;
Hijikata, Atsushi;
Tanaka, Naoko;
Kawai, Tomoki;
Saito, Megumu K;
Goldbach-Mansky, Raphaela;
Aksentijevich, Ivona;
Yasumi, Takahiro;
Nakahata, Tatsutoshi;
Heike, Toshio;
Nishikomori, Ryuta;
Ohara, Osamu

Publication type:

Article

Laboratory parameters identify familial haemophagocytic lymphohistiocytosis from other forms of paediatric haemophagocytosis.

Published in:

British Journal of Haematology, 2015, v. 170, n. 4, p. 532, doi. 10.1111/bjh.13461

By:

Yasumi, Takahiro;
Hori, Masayuki;
Hiejima, Eitaro;
Shibata, Hirofumi;
Izawa, Kazushi;
Oda, Hirotsugu;
Yoshioka, Kouhei;
Nakagawa, Kenji;
Kawai, Tomoki;
Nishikomori, Ryuta;
Ohara, Osamu;
Heike, Toshio

Publication type:

Article

Rare diseases presenting with hemophagocytic lymphohistiocytosis.

Published in:

Pediatrics International, 2023, v. 65, n. 1, p. 1, doi. 10.1111/ped.15516

By:

Kanegane, Hirokazu;
Noguchi, Atsuko;
Yamada, Yuki;
Yasumi, Takahiro

Publication type:

Article

Munc13-4 deficiency with CD5 downregulation on activated CD8<sup>+</sup> T cells.

Published in:

Pediatrics International, 2014, v. 56, n. 4, p. 605, doi. 10.1111/ped.12290

By:

Wada, Taizo;
Yasumi, Takahiro;
Toma, Tomoko;
Hori, Masayuki;
Maeda, Sayaka;
Umeda, Katsutsugu;
Heike, Toshio;
Adachi, Souichi;
Usami, Ikuya;
Yachie, Akihiro

Publication type:

Article

Robust and Highly-Efficient Differentiation of Functional Monocytic Cells from Human Pluripotent Stem Cells under Serum- and Feeder Cell-Free Conditions.

Published in:

PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0059243

By:

Yanagimachi, Masakatsu D.;
Niwa, Akira;
Tanaka, Takayuki;
Honda-Ozaki, Fumiko;
Nishimoto, Seiko;
Murata, Yuuki;
Yasumi, Takahiro;
Ito, Jun;
Tomida, Shota;
Oshima, Koichi;
Asaka, Isao;
Goto, Hiroaki;
Heike, Toshio;
Nakahata, Tatsutoshi;
Saito, Megumu K.

Publication type:

Article

Subtypes of Familial Hemophagocytic Lymphohistiocytosis in Japan Based on Genetic and Functional Analyses of Cytotoxic T Lymphocytes.

Published in:

PLoS ONE, 2010, v. 5, n. 11, p. 1, doi. 10.1371/journal.pone.0014173

By:

Nagai, Kozo;
Yamamoto, Ken;
Fujiwara, Hiroshi;
An, Jun;
Ochi, Toshiki;
Suemori, Koichiro;
Yasumi, Takahiro;
Tauchi, Hisamichi;
Koh, Katsuyoshi;
Sato, Maho;
Morimoto, Akira;
Heike, Toshio;
Ishii, Eiichi;
Yasukawa, Masaki

Publication type:

Article

Successful reduced-intensity stem cell transplantation for GATA2 deficiency before progression of advanced MDS.

Published in:

Pediatric Transplantation, 2016, v. 20, n. 2, p. 333, doi. 10.1111/petr.12667

By:

Saida, Satoshi;
Umeda, Katsutsugu;
Yasumi, Takahiro;
Matsumoto, Akane;
Kato, Itaru;
Hiramatsu, Hidefumi;
Ohara, Osamu;
Heike, Toshio;
Adachi, Souichi

Publication type:

Article

Regulation of trunk neural crest delamination by δ EF1 and Sip1 in the chicken embryo.

Published in:

Development, Growth & Differentiation, 2016, v. 58, n. 2, p. 205, doi. 10.1111/dgd.12256

By:

Yasumi, Takahiro;
Inoue, Masashi;
Maruhashi, Mitsuji;
Kamachi, Yusuke;
Higashi, Yujiro;
Kondoh, Hisato;
Uchikawa, Masanori

Publication type:

Article

A nationwide survey of Aicardi–Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.

Published in:

Rheumatology, 2014, v. 53, n. 3, p. 448, doi. 10.1093/rheumatology/ket372

By:

Abe, Junya;
Nakamura, Kazuyuki;
Nishikomori, Ryuta;
Kato, Mitsuhiro;
Mitsuiki, Noriko;
Izawa, Kazushi;
Awaya, Tomonari;
Kawai, Tomoki;
Yasumi, Takahiro;
Toyoshima, Itaru;
Hasegawa, Kazuko;
Ohshima, Yusei;
Hiragi, Toru;
Sasahara, Yoji;
Suzuki, Yasuhiro;
Kikuchi, Masahiro;
Osaka, Hitoshi;
Ohya, Takashi;
Ninomiya, Shinya;
Fujikawa, Satoshi

Publication type:

Article

Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi–Goutières syndrome/familial chilblain lupus.

Published in:

2013

By:

Abe, Junya;
Izawa, Kazushi;
Nishikomori, Ryuta;
Awaya, Tomonari;
Kawai, Tomoki;
Yasumi, Takahiro;
Hiragi, Naoko;
Hiragi, Toru;
Ohshima, Yusei;
Heike, Toshio

Publication type:

Journal Article