京都大学 小児科最近の主な業績

最近の主な業績

賞・Award

  • 加藤健太郎. 第7回日本免疫不全・自己炎症学会学術集会 最優秀演題賞 2024
  • 林貴大. 第65回日本小児神経学会学術集会 Young Investigator Award 2023
  • 加藤健太郎. 第67回日本リウマチ学会総会・学術集会 国際ワークショップ優秀演題賞（ICW Excellent Abstract Award）2023
  • 片井悠太（医学部6回生）. ASH Abstract Achievement Award. the 64th American Society of hematology Annual Meeting and Exposition. 2022
  • 赤澤嶺. 第81回日本癌学会学術総会　JCA若手研究者ポスター賞 2022
  • 田坂佳資. 第81回日本癌学会学術総会　JCA若手研究者ポスター賞 2022
  • 加藤健太郎. 第31回日本小児リウマチ学会総会・学術集会　若手最優秀演題奨励賞研究部門　2022
  • 滝田順子. 小林がん学術賞 2022
  • 片井悠太（医学部6回生）. 第125回日本小児科学会学術集会トラベルグラント 2022
  • 加藤格. 公益信託日本白血病研究基金研究助成事業　小児領域特別研究賞（毎日賞）2021
  • 赤木健太郎. 小児循環器学会総会　優秀演題賞 2021
  • 三上貴司. 第4回国際がん研究シンポジウム Young Investigator Award 2020
  • 滝田順子. 日本癌学会 2020年度 女性科学者賞
  • 才田聡. 森永奉仕会 令和元年度 特別賞 太田敬三賞
  • 滝田順子. 日本白血病研究基金研究助成事業 2019年度 清水賞
  • 田中邦昭. 日本小児血液・がん学会2019年度 大谷賞
  • 柴田洋史. Robert J. Arceci Prize for best poster. 35th Annual meeting of the histiocyte society. 2019
  • 本田吉孝. 第46回日本臨床免疫学会総会 研究奨励賞「患者由来iPS細胞を用いた未診断原発性免疫不全症の原因検索」2019
  • 加藤格. 信州大学医学部松医会 平成30年度 松医会賞（平成31年5月）
  • 才田聡. ASH Abstract Achievement Award. the 60th American Society of hematology Annual Meeting and Exposition. 2018

研究論文

  • Hayashi T, Yoshida T, et al. Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy. Hum Mol Genet. 2023
  • Nishitani-Isa M, Yasumi T, et al.Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation. J Exp Med. 2022
  • Tasaka K, Ueno H et al.Oncogenic FGFR1 mutation and amplification in common cellular origin in a composite tumor with neuroblastoma and pheochromocytoma. Cancer Science. 2022
  • Takita J. Molecular Basis and Clinical Features of Neuroblastoma. JMA J. 2021
  • Mikami T, Kato I et al. Alteration of the immune environment in bone marrow from children with recurrent B cell precursor acute lymphoblastic leukemia. Cancer Science. 2021
  • Obu S, Umeda K et al. CD146 is a potential immunotarget for neuroblastoma. Cancer Science. 2021
  • Honda Y, Maeda Y, Izawa K et al. Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants. J Clin Immunol. 2021
  • Nihira H, Izawa K, Yaumi T et al. Detailed Analysis of Japanese Patients with Adenosine Deaminase 2 Deficiency Reveals Characteristic Elevation of Type II Interferon Signature and STAT1 Hyperactivation. J Allergy Clin Immunol. 2021
  • Tomotaki S, Araki R, Kawai M et al. Effects of passage through the digestive tract on incretin secretion: Before and after birth. J Diabetes Investig. 2020
  • Ueno H, Yoshida K, Shiozawa Y, et al. Landscape of driver mutations and their clinical impacts in pediatric B-cell precursor acute lymphoblastic leukemia. Blood Adv. 2020
  • Tanaka K, Kato I, Tanaka M, et al. Direct Delivery of piggyBac CD19 CAR T Cells Has Potent Anti-tumor Activity against ALL Cells in CNS in a Xenograft Mouse Model. Mol Ther Oncolytics. 2020
  • Saida S, Zhen T, Kim E, et al. Gata2 deficiency delays leukemogenesis while contributing to aggressive leukemia phenotype in Cbfb-MYH11 knockin mice. Leukemia. 2020
  • Yoshida T, Takita J, Sakurai H et al. A Liver Model of Infantile-Onset Pompe Disease Using Patient-Specific Induced Pluripotent Stem Cells. Front Cell Dev Biol. 2019
  • Kimura S, Takita J, et al. DNA methylation-based classification reveals difference between pediatric T-cell acute lymphoblastic leukemia and normal thymocytes. Leukemia. 2019
  • Shiba T, Tanaka T, Ida H,et al. Functional evaluation of the pathological significance of MEFV variants using induced pluripotent stem cell-derived macrophages. J Allergy Clin Immunol. 2019
  • Kubota Y, Takita J, et al. Integrated genetic and epigenetic analysis revealed heterogeneity of acute lymphoblastic leukemia in Down syndrome. Cancer sci. 2019
  • Yoshinaga D, Baba S, Makiyama T, et al. Phenotype-Based High-Throughput Classification of Long QT Syndrome Subtypes Using Human Induced Pluripotent Stem Cells. Stem Cell Reports. 2019
  • Honda Y, Yasumi T, et al.Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency. J Clin Invest. 2019
  • Tsurumi F, Baba S, et al.The intracellular Ca2+ concentration is elevated in cardiomyocytes differentiated from hiPSCs derived from a Duchenne muscular dystrophy patient. PLoS One 2019
  • Shibata H, Yasumi T, et al. Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis. Blood. 2018
  • Isobe T, Takita J, et al. Integrated Molecular Characterization of the Lethal Pediatric Cancer Pancreatoblastoma. Cancer Res. 2018
  • Kato I, Nishinaka Y, Nakamura M, et al. Hypoxic adaptation of leukemic cells infiltrating the CNS affords a therapeutic strategy targeting VEGFA. Blood. 2017
  • Seki M, Takita J, et al. Recurrent SPI1 (PU.1) fusions in high-risk pediatric T cell acute lymphoblastic leukemia. Nat Genet. 2017
  • Takagi M, Takita J, et al. Loss of DNA Damage Response in Neuroblastoma and Utility of a PARP Inhibitor. J Natl Cancer Inst. 2017
  • Yoshida T, Awaya T, et al. A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells. Sci Rep. 2017
  • Hori M, Yasumi T, et al. A CD57+ CTL Degranulation Assay Effectively Identifies Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients. J Clin Immunol. 2017
  • Oda H, Nishikomori R, Heike T, et al. Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function. Eur J Hum Genet. 2016
  • Daifu T, Umeda K, et al. The NOD/Shi-scid/IL-2Rγ(null) mice xenograft model recapitulates anaplastic large cell lymphoma dissemination to the bladder. Leuk Lymphoma. 2015
  • Nakagawa K, Nishikomori R, et al. Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. Ann Rheum Dis. 2015
  • Oda H, Nakagawa K, Abe J, et al. Aicardi-Goutières syndrome is caused by IFIH1 mutations. Am J Hum Genet. 2014
  • Kanazawa H, Kawai M, et al. Cortical muscle control of spontaneous movements in human neonates. Eur J Neurosci. 2014
  • Abe J, Nakamura K, Nishikomori R, et al. A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study. Rheumatology (Oxford). 2014
  • Morishima T, Watanabe K, et al. Genetic correction of HAX1 in induced pluripotent stem cells from a patient with severe congenital neutropenia improves defective granulopoiesis. Haematologica. 2014
  • Yoshioka T, Nishikomori R, et al. 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. J Clin Immunol. 2013
  • Saida S, Watanabe K, et al. Clonal selection in xenografted TAM recapitulates the evolutionary process of myeloid leukemia in Down syndrome. Blood. 2013
  • Niwa F, Kawai M, et al. Limited response to CRH stimulation tests at 2 weeks of age in preterm infants born at less than 30 weeks of gestational age. Clin Endocrinol (Oxf). 2013
  • Abe J, Izawa K, Nishikomori R, et al. Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus. Rheumatology (Oxford). 2013
  • Awaya T, Kato T, et al. Selective development of myogenic mesenchymal cells from human embryonic and induced pluripotent stem cells. PLoS One. 2012
  • Tanaka T, Saito MK, et al. Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery. Blood. 2012
  • Kawai T, Nishikomori R, et al. Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency. Blood. 2012
  • Izawa K, Nishikomori R, Ohara O, et al. Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing. DNA Res. 2012
  • Kato I, Niwa A, Heike T, et al. Identification of hepatic niche harboring human acute lymphoblastic leukemic cells via the SDF-1/CXCR4 axis. PLoS One. 2011
  • Matsukura T, Kawai M, et al. Diagnostic value of salivary cortisol in the CRH stimulation test in premature infants. J Clin Endocrinol Metab. 2012
  • Sakai H, Okafuji I, Nishikomori R, et al. The CD40-CD40L axis and IFN-γ play critical roles in Langhans giant cell formation. Int Immunol. 2012
  • Murata Y, Yasumi T, et al. Rapid diagnosis of FHL3 by flow cytometric detection of intraplatelet Munc13-4 protein. Blood. 2011
  • Niwa A, Nakahata T, Saito MK, et al. A novel serum-free monolayer culture for orderly hematopoietic differentiation of human pluripotent cells via mesodermal progenitors. PLoS One. 2011
  • Morishima T, Watanabe K, et al. Neutrophil differentiation from human-induced pluripotent stem cells. J Cell Physiol. 2011
  • Iwasa T, Baba S, et al. Neonatal mouse testis-derived multipotent germline stem cells improve the cardiac function of acute ischemic heart mouse model. Biochem Biophys Res Commun. 2010
  • Kaichi S, Hasegawa K, et al. Cyclin-dependent kinase 9 forms a complex with GATA4 and is involved in the differentiation of mouse ES cells into cardiomyocytes. J Cell Physiol. 2011
  • Kumada T, Yamanaka Y, et al. Ttyh1, a Ca(2+)-binding protein localized to the endoplasmic reticulum, is required for early embryonic development. Dev Dyn. 2010
  • Kaichi S, Hasegawa K, et al. Cell line-dependent differentiation of induced pluripotent stem cells into cardiomyocytes in mice. Cardiovasc Res. 2010
  • MizunoY, Heike T, et al. Generation of skeletal muscle stem/progenitor cells from murine induced pluripotent stem cells. FASEB J. 2010
  • Takita J, Ogawa S, et al. Oncogenic mutations of ALK kinase in neuroblastoma. Nature. 2008
  • Saito MK, Nishikomori R, et al. Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients. Blood. 2008
  • Fujino H, Hiramatsu H, et al. Human cord blood CD34+ cells develop into hepatocytes in the livers of NOD/SCID/gamma(c)null mice through cell fusion. FASEB J. 2007
  • Baba S, Heike T, et al. Flk1(+) cardiac stem/progenitor cells derived from embryonic stem cells improve cardiac function in a dilated cardiomyopathy mouse model. Cardiovasc Res. 2007
  • Baba S, Heike T, et al. Generation of cardiac and endothelial cells from neonatal mouse testis-derived multipotent germline stem cells. Stem Cells. 2007
  • Kurokawa K, Yorifuji T, et al. Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency. J Hum Genet. 2007
  • Shiota M, Heike T, Nakahata T, et al. Isolation and characterization of bone marrow-derived mesenchymal progenitor cells with myogenic and neuronal properties. Exp Cell Res. 2007
  • Shinoda G, Umeda K, Nakahata T, et al. alpha4-Integrin(+) endothelium derived from primate embryonic stem cells generates primitive and definitive hematopoietic cells. Blood. 2007
  • Umeda K, Heike T, Nakahata T, et al. Sequential analysis of alpha- and beta-globin gene expression during erythropoietic differentiation from primate embryonic stem cells. Stem cells. 2006
  • Kato T, Heike T, Nakahata T, et al. A neurosphere-derived factor, cystatin C, supports differentiation of ES cells into neural stem cells. Proc Natl Acad Sci U S A. 2006
  • Yasumi T, Katamura K, Nakahata T, et al. Limited ability of antigen-specific Th1 responses to inhibit Th2 cell development in vivo. J Immunol. 2005
  • Yasumi T, Katamura K, Nakahata T, et al. Differential requirement for the CD40-CD154 costimulatory pathway during Th cell priming by CD8 alpha+ and CD8 alpha- murine dendritic cell subsets. J Immunol. 2004
  • Nishikomori R, et al. X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival. Blood. 2004

臨床論文

  • Fukui S, Umeda K, et al.Use of Cabozantinib to Treat MET-amplified Pediatric Colorectal Cancer. J Pediatr Hematol Oncol. 2022
  • Nakajima K, Kubota H, et al.PAX5 alterations in an infant case of KMT2A-rearranged leukemia with lineage switch. Cancer Science. 2022
  • Kawabata N, Hiramatsu H, et al.Chimeric antigen receptor T-cell therapy for a patient with Philadelphia chromosome-positive acute lymphoblastic leukemia and leukoencephalopathy who relapsed after bone marrow transplantation. Pediatr Blood Cancer. 2022
  • Hanaoka S, Motokura K, et al.Comparison of two methods measuring serum alkaline phosphatase in neonates. Pediatr Int. 2021
  • Araki R, Tomotaki S, et al.Effect of doxapram on the electrical activity of the diaphragm waveform pattern of preterm infants. Pediatr Pulmonol. 2022
  • Nakajima K, Hiejima E, et al.Case Report: A Case of Epstein-Barr Virus-Associated Acute Liver Failure Requiring Hematopoietic Cell Transplantation After Emergent Liver Transplantation. Front Immunol. 2022
  • Umeda K, et al. Intensive Multimodal Therapy Combined With Long-term Temozolomide and Etoposide Treatment for Recurrent Osteosarcoma to the Liver and Stomach. J Pediatr Hematol Oncol. 2022
  • Kouzuki K, Umeda K, et al. Immature teratoma of the ovary associated with Cowden syndrome. Pediatr Blood Cancer. 2022
  • Kouzuki K, Umeda K, et al. Successful right hepatic trisectionectomy following percutaneous transhepatic portal embolization in a pediatric patient with undifferentiated embryonal sarcoma of the liver. Pediatr Blood Cancer. 2021
  • Nakajima K, Yoshida T, et al. Isolated sixth nerve palsy as an initial presentation of primary angiitis of the central nervous system. Brain Dev. 2021
  • Motokura K, Tomotaki S, Hanaoka S, et al. Appropriate Phosphorus Intake by Parenteral Nutrition Prevents Metabolic Bone Disease of Prematurity in Extremely Low Birth Weight Infants. JPEN J Parenter Enteral Nutr. 2020
  • Tasaka K, Umeda K, Kamitori T, et al. Intracranial Growing Teratoma Syndrome With Intraventricular Lipid Accumulation. J Pediatr Hematol Oncol. 2020
  • Hanaoka S, Iwanaga K, Tomotaki S, et al. Antenatal Corticosteroids for Threatened Labor Facilitate Thyroid Maturation Among Preterm Neonates. Clin Endocrinol (Oxf). 2020
  • Kawaguchi K, Umeda K, Takachi T, et al. Effects of Cryotherapy on High-Dose Melphalan-Induced Oral Mucositis in Pediatric Patients Undergoing Autologous Stem Cell Transplantation. Pediatr Blood Cancer. 2020
  • Yamamoto A, Iwanaga K, Kawai M, et al. Response of Preterm Infants With Transient Hypothyroxinaemia of Prematurity to the Thyrotropin-Releasing Hormone Stimulation Test Is Characterized by a Delayed Decrease in Thyroid-Stimulating Hormone After the Peak. Clin Endocrinol (Oxf). 2020
  • Akazawa R, Umeda K, Saida S, et al. Temozolomide and Etoposide Combination for the Treatment of Relapsed Osteosarcoma. Jpn J Clin Oncol. 2020
  • Maeda S, Kato I, Umeda K, et al. Continuous Deep Sedation at the End of Life in Children With Cancer: Experience at a Single Center in Japan. Pediatr Hematol Oncol. 2020
  • Tanaka T, Yoshioka K, Nishikomori R, et al. National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics. Mod Rheumatol. 2019
  • Tomotaki S, Kawai M. et al, et al. Reliability of real-time continuous glucose monitoring in infants. Pediatr Int. 2019
  • Umeda K, et al. Impact of low-dose irradiation and in vivo T-cell depletion on hematopoietic stem cell transplantation for non-malignant diseases using fludarabine-based reduced-intensity conditioning. Bone Marrow Transplant. 2019
  • Tanaka T, Yoshioka K, Nishikomori R, et al. National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics. Mod Rheumato. 2019
  • Hiejima E, Shibata H, Yasumi T, et al. Characterization of a large UNC13D gene duplication in a patient with familial hemophagocytic lymphohistiocytosis type 3. Clin Immunol. 2018
  • Iwai A, Umeda K, et al. Whole brain radiotherapy with volumetric-modulated arc therapy for pediatric intracranial embryonic carcinoma prevents permanent alopecia. Pediatr Blood Cancer. 2017
  • Nodomi S, Umeda K, et al. Efficacy of Ifosfamide-Cisplatin-Etoposide (ICE) Chemotherapy for a CNS Germinoma in a Child With Down Syndrome. J Pediatr Hematol Oncol. 2017
  • Umeda K, et al. Impact of pretransplant minimal residual disease on the post-transplant outcome of pediatric acute lymphoblastic leukemia. Pediatr Transplant. 2016
  • Nodomi S, Umeda K, et al. A Pediatric Case of Metastatic Conventional Parosteal Osteosarcoma Treated With Multidrug Chemotherapy. Pediatr Blood Cancer. 2016
  • Umeda K, Saida S, et al. Central nervous system recurrence of desmoplastic small round cell tumor following aggressive multimodal therapy: A case report. Oncol Lett. 2016
  • Hiejima E, et al. Diagnostic accuracy of endoscopic features of pediatric acute gastrointestinal graft-versus-host disease. Dig Endosc. 2016
  • Saida S, Umeda K, et al. Successful reduced-intensity stem cell transplantation for GATA2 deficiency before progression of advanced MDS. Pediatr Transplant. 2016
  • Nakata M, Kato T, et al. Long-term weekly ACTH therapy for relapsed West syndrome in tuberous sclerosis complex: A case report. Brain Dev. 2016
  • Hiejima E, Kawai T, et al. Reduced Numbers and Proapoptotic Features of Mucosal-associated Invariant T Cells as a Characteristic Finding in Patients with Inflammatory Bowel Disease. Inflamm Bowel Dis. 2015
  • Yasumi T, et al. Laboratory parameters identify familial haemophagocytic lymphohistiocytosis from other forms of paediatric haemophagocytosis. Br J Haematol. 2015
  • Umeda K, et al. Rituximab-combination chemotherapy achieves a 10th cycle of remission for Burkitt's lymphoma. Pediatr Int. 2015
  • Umeda K, et al. Long-term efficacy of bevacizumab and irinotecan in recurrent pediatric glioblastoma. Pediatr Int. 2015
  • Yoshida T, Kato T, et al. A boy with unilateral neck myoclonus of cortical origin independently on both sides. Seizure. 2015
  • Maeda S, Matsubara H, et al. Acute lymphoblastic leukemia in a girl with Wilson's disease. Pediatr Int. 2014
  • Yoshida T, Awaya T, Shibata M, et al. Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues? Am J Med Genet A. 2014
  • Morishima T, Kato I, Umeda K, et al. Perforation of enteric duplication during chemotherapy for osteosarcoma. Pediatr Int. 2014
  • Yoshida K, Kawai M, et al. High prevalence of severe circulatory complications with diazoxide in premature infants. Neonatology. 2014
  • Daifu T, Kato I, et al. The clinical utility of genetic testing for t(8;16)(p11;p13) in congenital acute myeloid leukemia. J Pediatr Hematol Oncol. 2014
  • Shibata M, Kato T, et al. Paroxysmal gaze deviations as the sole manifestation of occipital lobe epilepsy. Seizure. 2013
  • Yoshida T, Tamura T, et al. MRI gadolinium enhancement precedes neuroradiological findings in acute necrotizing encephalopathy. Brain Dev. 2013
  • Shibata M, Kato T, et al. Chronic immune-mediated axonal polyneuropathy following umbilical cord blood transplant for childhood-onset cerebral adrenoleukodystrophy. Pediatr Transplant. 2012
  • Kawai T, Nishikomori R, Heike T, et al. Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency. Allergol Int. 2012
  • Morishima T, et al. Pediatric idiopathic TTP diagnosed with decreased ADAMTS13 activity. Pediatr Int. 2012
  • Hiejima E, Yasumi T, et al. Gastric ulcer and gastroenteritis caused by Epstein-Barr virus during immunosuppressive therapy for a child with systemic juvenile idiopathic arthritis. Rheumatology (Oxford). 2012
  • Kawai T, Saito M, Nishikomori R, et al. Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient. J Clin Immunol. 2012
  • Mizushima Y, Adachi S, et al. Prognostic significance of the BAALC isoform pattern and CEBPA mutations in pediatric acute myeloid leukemia with normal karyotype: a study by the Japanese Childhood AML Cooperative Study Group. Int J Hematol. 2010
  • Kusunoki T, Morimoto T, Nishikomori R, et al. Breastfeeding and the prevalence of allergic diseases in schoolchildren: Does reverse causation matter? Pediatr Allergy Immunol. 2010
  • Kato I, Umeda K, et al. Successful treatment of refractory donor lymphocyte infusion-induced immune-mediated pancytopenia with rituximab. Pediatr Blood Cancer. 2010
  • Sakai H, Nishikomori R, et al. A case of early-onset sarcoidosis with a six-base deletion in the NOD2 gene. Rheumatology (Oxford). 2010
  • Baba S, Doi H, et al. A long-term follow-up of a girl with dilated cardiomyopathy after mitral valve replacement and septal anterior ventricular exclusion. J Cardiothorac Surg. 2009

*教室員が筆頭著者または責任著者の主要論文のみ掲載しています。

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