河合朋樹 (Tomoki Kawai) - マイポータル

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

Masayuki Hori, Takahiro Yasumi, Saeko Shimodera, Hirofumi Shibata, Eitaro Hiejima, Hirotsugu Oda, Kazushi Izawa, Tomoki Kawai, Masataka Ishimura, Naoko Nakano …

JOURNAL OF CLINICAL IMMUNOLOGY 37(1) 92-99 2017年1月査読有り

Reply to Walsh et al.

河合朋樹

Eur J Hum Genet. 2017年1月査読有り

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

Eitaro Hiejima, Hiroshi Nakase, Minoru Matsuura, Yusuke Honzawa, Hirokazu Higuchi, Satoshi Saida, Katsutsugu Umeda, Hidefumi Hiramatsu, Souichi Adachi, Kazushi Izawa …

DIGESTIVE ENDOSCOPY 28(5) 548-555 2016年7月査読有り

Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function

Hirotsugu Oda, Tatsuhiro Sato, Shinji Kunishima, Kenji Nakagawa, Kazushi Izawa, Eitaro Hiejima, Tomoki Kawai, Takahiro Yasumi, Hiraku Doi, Kenji Katamura …

EUROPEAN JOURNAL OF HUMAN GENETICS 24(3) 408-414 2016年3月査読有り

Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes

Kenji Nakagawa, Eva Gonzalez-Roca, Alejandro Souto, Toshinao Kawai, Hiroaki Umebayashi, Josep Maria Campistol, Jeronima Canellas, Syuji Takei, Norimoto Kobayashi, Jose Luis Callejas-Rubio …

ANNALS OF THE RHEUMATIC DISEASES 74(3) 603-610 2015年3月査読有り

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

Yasumi T, Hori M, Hiejima E, Shibata H, Izawa K, Oda H, Yoshioka K, Nakagawa K, Kawai T, Nishikomori R …

Br J Haematol. 2015年査読有り

Reduced Numbers and Proapoptotic Features of Mucosal-associated Invariant T Cells as a Characteristic Finding in Patients with IBD.

Hiejima E, Kawai T, Nakase H, Tsuruyama T, Morimoto T, Yasumi T, Taga T, Kanegane H, Hori M, Ohmori K …

Inflamm Bowel Dis. 2015年査読有り

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

Abe J, Nakamura K, Nishikomori R, Kato M, Mitsuiki N, Izawa K, Awaya T, Kawai T, Yasumi T, Toyoshima I …

Rheumatology 53(3) 448-458 2014年3月査読有り

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

Takakazu Yoshioka, Ryuta Nishikomori, Junichi Hara, Keiko Okada, Yoshiko Hashii, Ikuo Okafuji, Seishiro Nodomi, Tomoki Kawai, Kazushi Izawa, Hidenori Ohnishi …

JOURNAL OF CLINICAL IMMUNOLOGY 33(7) 1165-1174 2013年10月査読有り

Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutiéres syndrome/familial Chilblain lupus

J. Abe, K. Izawa, R. Nishikomori, T. Awaya, T. Kawai, T. Yasumi, N. Hiragi, T. Hiragi, Y. Ohshima, T. Heike

Rheumatology (United Kingdom) 52(2) 406-408 2013年2月査読有り

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

Tomoki Kawai, Megumu Saito, Ryuta Nishikomori, Takahiro Yasumi, Kazushi Izawa, Tomohiko Murakami, Shigefumi Okamoto, Yasuko Mori, Noriko Nakagawa, Kohsuke Imai …

JOURNAL OF CLINICAL IMMUNOLOGY 32(4) 690-697 2012年8月査読有り

Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency

Tomoki Kawai, Ryuta Nishikomori, Kazushi Izawa, Yuuki Murata, Naoko Tanaka, Hidemasa Sakai, Megumu Saito, Takahiro Yasumi, Yuki Takaoka, Tatsutoshi Nakahata …

BLOOD 119(23) 5458-5466 2012年6月査読有り

Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency

Tomoki Kawai, Ryuta Nishikomori, Kazushi Izawa, Yuuki Murata, Naoko Tanaka, Hidemasa Sakai, Megumu Saito, Takahiro Yasumi, Yuki Takaoka, Tatsutoshi Nakahata …

BLOOD 119(23) 5458-5466 2012年6月査読有り

Diagnosis and Treatment in Anhidrotic Ectodermal Dysplasia with Immunodeficiency

Tomoki Kawai, Ryuta Nishikomori, Toshio Heike

ALLERGOLOGY INTERNATIONAL 61(2) 207-217 2012年6月査読有り

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

Kazushi Izawa, Atsushi Hijikata, Naoko Tanaka, Tomoki Kawai, Megumu K. Saito, Raphaela Goldbach-Mansky, Ivona Aksentijevich, Takahiro Yasumi, Tatsutoshi Nakahata, Toshio Heike …

DNA RESEARCH 19(2) 143-152 2012年4月査読有り

Successful Treatment with Infliximab for Inflammatory Colitis in a Patient with X-linked Anhidrotic Ectodermal Dysplasia with Immunodeficiency

Tomoyuki Mizukami, Megumi Obara, Ryuta Nishikomori, Tomoki Kawai, Yoshihiro Tahara, Naoki Sameshima, Kousuke Marutsuka, Hiroshi Nakase, Nobuhiro Kimura, Toshio Heike …

JOURNAL OF CLINICAL IMMUNOLOGY 32(1) 39-49 2012年2月査読有り

Successful Treatment with Infliximab for Inflammatory Colitis in a Patient with X-linked Anhidrotic Ectodermal Dysplasia with Immunodeficiency

Tomoyuki Mizukami, Megumi Obara, Ryuta Nishikomori, Tomoki Kawai, Yoshihiro Tahara, Naoki Sameshima, Kousuke Marutsuka, Hiroshi Nakase, Nobuhiro Kimura, Toshio Heike …

JOURNAL OF CLINICAL IMMUNOLOGY 32(1) 39-49 2012年2月査読有り

High Incidence of NLRP3 Somatic Mosaicism in Patients With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome Results of an International Multicenter Collaborative Study

Naoko Tanaka, Kazushi Izawa, Megumu K. Saito, Mio Sakuma, Koichi Oshima, Osamu Ohara, Ryuta Nishikomori, Takeshi Morimoto, Naotomo Kambe, Raphaela Goldbach-Mansky …

ARTHRITIS AND RHEUMATISM 63(11) 3625-3632 2011年11月査読有り

Decreased expression in nuclear factor-κB essential modulator due to a novel splice-site mutation causes X-linked ectodermal dysplasia with immunodeficiency.

Imamura M, Kawai T, Okada S, Izawa K, Takachi T, Iwabuchi H, Yoshida S, Hosokai R, Kanegane H, Yamamoto T …

Journal of clinical immunology 31(5) 762-772 2011年10月査読有り

Disseminated BCG Infection Mimicking Metastatic Nasopharyngeal Carcinoma in an Immunodeficient Child with a Novel Hypomorphic NEMO Mutation

Masaru Imamura, Tomoki Kawai, Satoshi Okada, Kazushi Izawa, Takayuki Takachi, Haruko Iwabuchi, Sakiko Yoshida, Ryosuke Hosokai, Hirokazu Kanegane, Tatsuo Yamamoto …

JOURNAL OF CLINICAL IMMUNOLOGY 31(5) 802-810 2011年10月査読有り

河合朋樹

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