Chie Kobayashi
University of Tsukuba
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Publication
Featured researches published by Chie Kobayashi.
The Journal of Pediatrics | 2009
Yoichi Morinishi; Kohsuke Imai; Noriko Nakagawa; Hiroki Sato; Katsuyuki Horiuchi; Yoshitoshi Ohtsuka; Yumi Kaneda; Takashi Taga; Hiroaki Hisakawa; Ryosuke Miyaji; Mikiya Endo; Tsutomu Oh–ishi; Yoshiro Kamachi; Koshi Akahane; Chie Kobayashi; Masahiro Tsuchida; Tomohiro Morio; Yoji Sasahara; Satoru Kumaki; Keiko Ishigaki; Makoto Yoshida; Tomonari Urabe; Norimoto Kobayashi; Yuri Okimoto; Janine Reichenbach; Yoshiko Hashii; Yoichiro Tsuji; Kazuhiro Kogawa; Seiji Yamaguchi; Hirokazu Kanegane
OBJECTIVE To assess the feasibility of T-cell receptor excision circles (TRECs) quantification for neonatal mass screening of severe combined immunodeficiency (SCID). STUDY DESIGN Real-time PCR based quantification of TRECs for 471 healthy control patients and 18 patients with SCID with various genetic abnormalities (IL2RG, JAK3, ADA, LIG4, RAG1) were performed, including patients with maternal T-cell engraftment (n = 4) and leaky T cells (n = 3). RESULTS TRECs were detectable in all normal neonatal Guthrie cards (n = 326) at the levels of 10(4) to 10(5) copies/microg DNA. In contrast, TRECs were extremely low in all neonatal Guthrie cards (n = 15) and peripheral blood (n = 14) from patients with SCID, including those with maternal T-cell engraftment or leaky T cells with hypomorphic RAG1 mutations or LIG4 deficiency. There were no false-positive or negative results in this study. CONCLUSION TRECs quantification can be used as a neonatal mass screening for patients with SCID.
Oncogene | 2008
Yoshiaki Chinen; Tomohiko Taki; Kazuhiro Nishida; Daisuke Shimizu; Takashi Okuda; Nao Yoshida; Chie Kobayashi; Kazutoshi Koike; Masahiro Tsuchida; Yasuhide Hayashi; Masafumi Taniwaki
The AML1 gene is frequently rearranged by chromosomal translocations in acute leukemia. We identified that the LAF4 gene on 2q11.2–12 was fused to the AML1 gene on 21q22 in a pediatric patient having T-cell acute lymphoblastic leukemia (T-ALL) with t(2;21)(q11;q22) using the bubble PCR method for cDNA. The genomic break points were within intron 7 of AML1 and of LAF4, resulting in the in-frame fusion of exon 7 of AML1 and exon 8 of LAF4. The LAF4 gene is a member of the AF4/FMR2 family and was previously identified as a fusion partner of MLL in B-precursor ALL with t(2;11)(q11;q23), although AML1-LAF4 was in T-ALL. LAF4 is the first gene fused with both AML1 and MLL in acute leukemia. Almost all AML1 translocations except for TEL-AML1 are associated with myeloid leukemia; however, AML1-LAF4 was associated with T-ALL as well as AML1-FGA7 in t(4;21)(q28;q22). These findings provide new insight into the common mechanism of AML1 and MLL fusion proteins in the pathogenesis of ALL. Furthermore, we successfully applied bubble PCR to clone the novel AML1-LAF4 fusion transcript. Bubble PCR is a powerful tool for detecting unknown fusion transcripts as well as genomic fusion points.
Pediatric Transplantation | 2008
Miharu Yabe; Masahiro Sako; Hiromasa Yabe; Yuko Osugi; Hidemitsu Kurosawa; Taemi Nara; Mika Tokuyama; Souichi Adachi; Chie Kobayashi; Masakatsu Yanagimachi; Yoshitoshi Ohtsuka; Yozo Nakazawa; Chitose Ogawa; Atsushi Manabe; Seiji Kojima; Tatsutoshi Nakahata
Abstract: A pilot study was undertaken using a myeloablative conditioning with fludarabine, busulfan, and melphalan to improve the outcome of HSCT in 10 children, aged six months to six yr, with JMML. All patients were conditioned with oral busulfan (560 mg/m2), fludarabine (120 mg/m2), and melphalan (180–210 mg/m2) prior to HSCT, and received stem cells from bone marrow in seven cases, and from cord blood in three cases. Engraftment was documented in eight patients, whereas graft failure occurred in two, one of whom had received HLA‐mismatched cord blood and other had received bone marrow from HLA‐mismatched mother. Three patients, including two in who graft failure had occurred, relapsed. Five patients developed acute GVHD and two developed chronic GVHD. Seven patients are alive and in remission 27–69 months after transplantation. Thus, our study showed that HSCT following conditioning with fludarabine, busulfan, and melphalan was well tolerated and appeared to be effective for JMML.
Pediatric Blood & Cancer | 2013
Ayami Yoshimi; Yoshiro Kamachi; Kosuke Imai; Nobuhiro Watanabe; Hisaya Nakadate; Takashi Kanazawa; Shuichi Ozono; Ryoji Kobayashi; Misa Yoshida; Chie Kobayashi; Asahito Hama; Hideki Muramatsu; Yoji Sasahara; Marcus Jakob; Tomohiro Morio; Stephan Ehl; Atsushi Manabe; Charlotte M. Niemeyer; Seiji Kojima
Wiskott–Aldrich syndrome (WAS) is a rare X‐linked immunodeficiency caused by defects of the WAS protein (WASP) gene. Patients with WAS typically demonstrate micro‐thrombocytopenia.
Pediatric Allergy and Immunology | 2012
Hirokazu Kanegane; Xi Yang; Meina Zhao; Kazumi Yamato; Masami Inoue; Kazuko Hamamoto; Chie Kobayashi; Ako Hosono; Yoshikiyo Ito; Yozo Nakazawa; Kiminori Terui; Kazuhiro Kogawa; Eiichi Ishii; Ryo Sumazaki; Toshio Miyawaki
To cite this article: Kanegane H, Yang Xi, Zhao M, Yamato K, Inoue M, Hamamoto K, Kobayashi C, Hosono A, Ito Y, Nakazawa Y, Terui K, Kogawa K, Ishii E, Sumazaki R, Miyawaki T. Clinical features and outcome of X‐linked lymphoproliferative syndrome type 1 (SAP deficiency) in Japan identified by the combination of flow cytometric assay and genetic analysis. Pediatric Allergy Immunology 2012: 23: 488–493.
Pediatrics International | 2011
Yukiko Kikuchi; Yoshifumi Kashii; Yuji Gunji; Akira Morimoto; Aki Masuzawa; Yuka Takatsuka; Etsuko Fujita; Mayumi Komine; Mamitaro Ohtsuki; Daisuke Matsubara; Chie Kobayashi; Ayako Sakurai; Kentaro Yanase; Keisuke Kato; Kazutoshi Koike; Masahiro Tsuchida; Mariko Y. Momoi
Yukiko Kikuchi, Yoshifumi Kashii, Yuji Gunji, Akira Morimoto, Aki Masuzawa, Yuka Takatsuka, Etsuko Fujita, Mayumi Komine, Mamitaro Ohtsuki, Daisuke Matsubara, Chie Kobayashi, Ayako Sakurai, Kentaro Yanase, Keisuke Kato, Kazutoshi Koike, Masahiro Tsuchida and Mariko Y. Momoi Departments of Pediatrics, Dermatology and Pathology, Jichi Medical University School of Medicine, Shimotsuke, Tochigi and Ibaraki Children’s Hospital, Mito, Ibaraki, Japan
Cytometry Part B-clinical Cytometry | 2011
Meina Zhao; Hirokazu Kanegane; Chie Kobayashi; Yozo Nakazawa; Eizaburo Ishii; Mikio Kasai; Kiminori Terui; Yoshihiro Gocho; Kohsuke Imai; Junichi Kiyasu; Shigeaki Nonoyama; Toshio Miyawaki
X‐linked lymphoproliferative syndrome (XLP) is a rare immunodeficiency with extreme vulnerability to Epstein‐Barr virus (EBV) infection. It presents with fatal infectious mononucleosis, lymphoproliferative disorder, or dysgammaglobulinemia. The majority of affected males have mutations in the SH2D1A/SLAM‐associated protein (SAP) gene. We previously generated an antihuman SAP monoclonal antibody (KST‐3) for a flow cytometric assay and described the activation of T cells to be necessary for the flow cytometric assessment of the SAP expression using an FITC‐conjugated secondary antibody.
Journal of Human Genetics | 2016
Hisato Suzuki; Hiroko Fukushima; Ryoko Suzuki; Sho Hosaka; Yuni Yamaki; Chie Kobayashi; Aiko Sakai; Kazuo Imagawa; Atsushi Iwabuchi; Ai Yoshimi; Tomohei Nakao; Keisuke Kato; Masahiro Tsuchida; Nobutaka Kiyokawa; Kazutoshi Koike; Takashi Fukushima; Ryo Sumazaki
The pharmacokinetics among children has been altered dynamically. The difference between children and adults is caused by immaturity in things such as metabolic enzymes and transport proteins. The periods when these alterations happen vary from a few days to some years after birth. We hypothesized that the effect of gene polymorphisms associated with the dose of medicine could be influenced by age. In this study, we analyzed 51 patients with childhood acute lymphoblastic leukemia (ALL) retrospectively. We examined the associations between the polymorphism in NUDT15 and clinical data, especially the dose of 6-mercaptopurine (6-MP). Ten of the patients were heterozygous for the variant allele in NUDT15. In patients under 7 years old with NUDT15 variant allele, the average administered dose of 6-MP was lower than that for the patients homozygous for the wild-type allele (P=0.04). Genotyping of NUDT15 could be a beneficial to estimate the tolerated dose of 6-MP for patients with childhood ALL, especially at a preschool age in Japan. Furthermore, the analysis with stratification by age might be useful in pharmacogenomics among children.
Leukemia | 2013
Masatoshi Takagi; Jinhua Piao; L Lin; H Kawaguchi; Chihaya Imai; A Ogawa; Akihiro Watanabe; K Akiyama; Chie Kobayashi; M Mori; K Ko; Masataka Sugimoto; Shuki Mizutani
Autoimmunity and persistent RAS-mutated clones long after the spontaneous regression of JMML
Pediatric Hematology and Oncology | 2008
Tomohei Nakao; Takashi Shimizu; Takashi Fukushima; Makoto Saito; Miho Okamoto; Masatoshi Sugiura; Ken Yamamoto; Ikuyo Ueda; Shinsaku Imashuku; Chie Kobayashi; Kazutoshi Koike; Masahiro Tsuchida; Ryo Sumazaki; Akira Matsui
The authors report here sibling cases of familial hemophagocytic lymphohistiocytosis (FHL) type 3 that took fatal courses despite intensive treatment. The older brother achieved remission by immunochemotherapy, but a central nervous system lesion occurred before the introduction of allogeneic hematopoietic stem cell transplantation (allo-HSCT). The patient died on day +1 of allo-HSCT due to progression of the disease. The younger brother developed symptoms of hemophagocytic lymphohistiocytosis mimicking neonatal hemochromatosis at birth. He died without a chance to receive allo-HSCT. Both siblings showed low natural killer cell (NK) activity and the compound heterozygous Munc13–4 gene mutations 1596+1 and 1723insA were identified postmortem in the younger brother. With recent progress in the molecular diagnosis of FHL, prompt and most appropriate therapeutic measures should be introduced to improve the prognosis of FHL patients.