Tomohiro Morio

Tomohiro Morio

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Tomohiro Morio

Publications by authors named "Tomohiro Morio"

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A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency.

Int J Hematol 2019 May 8;109(5):603-611. Epub 2019 Mar 8.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan.

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http://dx.doi.org/10.1007/s12185-019-02619-9DOI Listing
May 2019

Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency.

Int J Hematol 2019 Apr 13;109(4):382-389. Epub 2019 Feb 13.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan.

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http://link.springer.com/10.1007/s12185-019-02614-0
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http://dx.doi.org/10.1007/s12185-019-02614-0DOI Listing
April 2019

suppression during the murine fetal period optimizes ovarian development by fine-tuning Notch signaling.

J Cell Sci 2019 Apr 15;132(8). Epub 2019 Apr 15.

Department of Pediatrics and Developmental Biology, Tokyo Medical Dental University, Tokyo 113-8510, Japan.

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http://dx.doi.org/10.1242/jcs.223768DOI Listing
April 2019

Identification of autoantibodies using human proteome microarrays in patients with IPEX syndrome.

Clin Immunol 2019 Apr 2;203:9-13. Epub 2019 Apr 2.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2019.03.011DOI Listing
April 2019

[Immunotherapy for refractory viral infections].

Rinsho Ketsueki 2018;59(2):205-215

The Institute of Medical Sciences, The University of Tokyo.

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http://dx.doi.org/10.11406/rinketsu.59.205DOI Listing
February 2019

Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.

Brain Dev 2019 Feb 6;41(2):150-157. Epub 2018 Oct 6.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2018.09.007DOI Listing
February 2019

A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus.

J Hum Genet 2019 Feb 16;64(2):177-181. Epub 2018 Nov 16.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.

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http://dx.doi.org/10.1038/s10038-018-0539-3DOI Listing
February 2019

Recurrent Acute Abdomen as the Main Manifestation of Hereditary Angioedema.

Intern Med 2019 Jan 24;58(2):213-216. Epub 2018 Aug 24.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Japan.

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http://dx.doi.org/10.2169/internalmedicine.1559-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378167PMC
January 2019

Modification of cellular and humoral immunity by somatically reverted T cells in X-linked lymphoproliferative syndrome type 1.

J Allergy Clin Immunol 2019 Jan 17;143(1):421-424.e11. Epub 2018 Oct 17.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan; Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan; Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.07.044DOI Listing
January 2019

Two Prenatal Cases of Hyper-IgE Syndrome.

J Clin Immunol 2019 Jan 7;39(1):15-18. Epub 2019 Jan 7.

Comprehensive Reproductive Medicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan.

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http://dx.doi.org/10.1007/s10875-018-0588-6DOI Listing
January 2019

WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome.

Eur J Med Genet 2019 Jan 31. Epub 2019 Jan 31.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.01.016DOI Listing
January 2019

Survey of the awareness of adult rheumatologists regarding transitional care for patients with juvenile idiopathic arthritis in Japan.

Mod Rheumatol 2018 Nov 8;28(6):981-985. Epub 2018 Feb 8.

a Department of Lifetime Clinical Immunology, Graduate School of Medical and Dental Sciences , Tokyo Medical and Dental University (TMDU) , Tokyo , Japan.

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https://www.researchgate.net/publication/303917336_Systemati
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https://www.tandfonline.com/doi/full/10.1080/14397595.2018.1
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http://dx.doi.org/10.1080/14397595.2018.1430546DOI Listing
November 2018

Hematopoietic cell transplantation for asymptomatic X-linked lymphoproliferative syndrome type 1.

Allergy Asthma Clin Immunol 2018 14;14:82. Epub 2018 Nov 14.

1Department of Hematology and Oncology, Children's Cancer Center, Kobe Children's Hospital, Minatojima-Minamimachi 1-6-7, Chuo-ku, Kobe, 650-0047 Japan.

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http://dx.doi.org/10.1186/s13223-018-0306-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236904PMC
November 2018

Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review.

Sex Dev 2017 24;11(5-6):284-288. Epub 2018 Jan 24.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.

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http://dx.doi.org/10.1159/000485868DOI Listing
October 2018

High frequencies of asymptomatic Epstein-Barr virus viremia in affected and unaffected individuals with CTLA4 mutations.

Clin Immunol 2018 Oct 24;195:45-48. Epub 2018 Jul 24.

Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2018.07.012DOI Listing
October 2018

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

Int J Hematol 2018 Sep 18;108(3):319-328. Epub 2018 May 18.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.

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http://dx.doi.org/10.1007/s12185-018-2475-6DOI Listing
September 2018

Generation of multivirus-specific T cells by a single stimulation of peripheral blood mononuclear cells with a peptide mixture using serum-free medium.

Cytotherapy 2018 Sep 17;20(9):1182-1190. Epub 2018 Aug 17.

Division of Molecular Therapy, Advanced Clinical Research Center, The Institute of Medical Science, University of Tokyo, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jcyt.2018.05.009DOI Listing
September 2018

Status of KRAS in iPSCs Impacts upon Self-Renewal and Differentiation Propensity.

Stem Cell Reports 2018 Aug 5;11(2):380-394. Epub 2018 Jul 5.

Division of Stem Cell Processing/Stem Cell Bank, Center for Stem Cell Biology and Regenerative Medicine, The Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan.

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http://dx.doi.org/10.1016/j.stemcr.2018.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6092694PMC
August 2018

Total body irradiation for hematopoietic stem cell transplantation during early childhood is associated with the risk for diabetes mellitus.

Endocrine 2018 07 24;61(1):76-82. Epub 2018 Apr 24.

Division of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Bunkyo-Ward, Tokyo, 113-8510, Japan.

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http://dx.doi.org/10.1007/s12020-018-1595-3DOI Listing
July 2018

Hematopoietic cell transplantation for myeloid/NK cell precursor acute leukemia in second remission.

Clin Case Rep 2018 Jun 10;6(6):1023-1028. Epub 2018 Apr 10.

Department of Pediatrics and Developmental Biology Graduate School of Medicine Tokyo Medical and Dental University Yushima 1-5-45, Bunkyo-ku Tokyo Japan.

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http://dx.doi.org/10.1002/ccr3.1506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986054PMC
June 2018

Hematopoietic stem cell transplantation for pulmonary alveolar proteinosis associated with primary immunodeficiency disease.

Int J Hematol 2018 May 28;107(5):610-614. Epub 2017 Nov 28.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.

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http://dx.doi.org/10.1007/s12185-017-2375-1DOI Listing
May 2018

Type 1 diabetes mellitus associated with activated phosphatidylinositol 3-kinase delta syndrome, type 2.

J Diabetes 2018 May 12;10(5):421-422. Epub 2018 Feb 12.

Department of Paediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.

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http://dx.doi.org/10.1111/1753-0407.12638DOI Listing
May 2018

Complications of Listeria meningitis in two immunocompetent children.

Pediatr Int 2018 May;60(5):491-492

Department of Pediatrics, Kawaguchi Municipal Medical Center, Kawaguchi, Japan.

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http://dx.doi.org/10.1111/ped.13550DOI Listing
May 2018

Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders.

J Allergy Clin Immunol 2018 Apr 11;141(4):1485-1488.e11. Epub 2017 Dec 11.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.10.039DOI Listing
April 2018

Intravenous immunoglobulin (IVIG) efficiency in women with common variable immunodeficiency (CVID) decreases significantly during pregnancy.

J Matern Fetal Neonatal Med 2018 Apr 3:1-5. Epub 2018 Apr 3.

c Department of Comprehensive Reproductive Medicine , Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University , Tokyo , Japan.

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https://www.tandfonline.com/doi/full/10.1080/14767058.2018.1
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http://dx.doi.org/10.1080/14767058.2018.1455824DOI Listing
April 2018

Droplet Digital PCR-Based Chimerism Analysis for Primary Immunodeficiency Diseases.

J Clin Immunol 2018 04 18;38(3):300-306. Epub 2018 Apr 18.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.

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http://dx.doi.org/10.1007/s10875-018-0497-8DOI Listing
April 2018

A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty.

Horm Res Paediatr 2017 21;87(4):271-276. Epub 2016 Sep 21.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.

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http://dx.doi.org/10.1159/000449222DOI Listing
March 2018

Autoinflammatory phenotypes in Aicardi-Goutières syndrome with interferon upregulation and serological autoimmune features.

J Allergy Clin Immunol 2018 Mar 11;141(3):1135-1138. Epub 2017 Nov 11.

Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.jaci.2017.10.019DOI Listing
March 2018

Allogeneic Hematopoietic Stem Cell Transplantation for Leukocyte Adhesion Deficiency.

J Pediatr Hematol Oncol 2018 03;40(2):137-140

Department of Community Pediatrics, Perinatal and Maternal Medicine, Tokyo Medical and Dental University, Tokyo.

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http://dx.doi.org/10.1097/MPH.0000000000001028DOI Listing
March 2018

Characterization of In Vitro Expanded Virus-Specific T cells for Adoptive Immunotherapy against Virus Infection.

Jpn J Infect Dis 2018 Mar 28;71(2):122-128. Epub 2018 Feb 28.

AIDS Research Center, National Institute of Infectious Diseases.

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http://dx.doi.org/10.7883/yoken.JJID.2017.500DOI Listing
March 2018

Slowly progressive leukodystrophy in an adolescent male with phosphoglycerate kinase deficiency.

Brain Dev 2018 Feb 8;40(2):150-154. Epub 2017 Aug 8.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2017.07.009DOI Listing
February 2018

Targeting the enhanced ER stress response in Marinesco-Sjögren syndrome.

J Neurol Sci 2018 02 9;385:49-56. Epub 2017 Dec 9.

Department of Pediatrics, Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2017.12.010DOI Listing
February 2018

Flow cytometry-based diagnosis of primary immunodeficiency diseases.

Allergol Int 2018 Jan 3;67(1):43-54. Epub 2017 Jul 3.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.

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http://dx.doi.org/10.1016/j.alit.2017.06.003DOI Listing
January 2018

Perinatal factors affecting growth and development at age 3 years in extremely low birth weight infants born small for gestational age.

Clin Pediatr Endocrinol 2018 30;27(1):31-38. Epub 2018 Jan 30.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.

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http://dx.doi.org/10.1297/cpe.27.31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5792819PMC
January 2018

Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases.

Pediatr Diabetes 2017 Dec 9;18(8):917-924. Epub 2017 Feb 9.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.

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http://dx.doi.org/10.1111/pedi.12508DOI Listing
December 2017

Multilateral Functional Alterations of Human Neutrophils in Sepsis: From the Point of Diagnosis to the Seventh Day.

Shock 2017 12;48(6):629-637

*Department of Acute Critical Care and Disaster Medicine, Graduate School of Tokyo Medical and Dental University, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan †Department of Pediatrics and Developmental Biology, Graduate School of Tokyo Medical and Dental University, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan.

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http://dx.doi.org/10.1097/SHK.0000000000000883DOI Listing
December 2017

Effect of reduced-intensity conditioning and the risk of late-onset non-infectious pulmonary complications in pediatric patients.

Eur J Haematol 2017 Dec 4;99(6):525-531. Epub 2017 Oct 4.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan.

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http://dx.doi.org/10.1111/ejh.12967DOI Listing
December 2017

Myhre syndrome: Age-dependent progressive phenotype.

Pediatr Int 2017 Nov;59(11):1205-1206

Department of Pediatrics and Developmental Biology, Graduate School, Tokyo Medical and Dental University, Ibaraki, Japan.

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http://dx.doi.org/10.1111/ped.13413DOI Listing
November 2017

Severe combined immunodeficiency: From its discovery to the perspective.

Nihon Rinsho Meneki Gakkai Kaishi 2017 ;40(3):145-154

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU).

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http://dx.doi.org/10.2177/jsci.40.145DOI Listing
October 2017

Maternal T and B cell engraftment in two cases of X-linked severe combined immunodeficiency with IgG1 gammopathy.

Clin Immunol 2017 10 3;183:112-120. Epub 2017 Aug 3.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.

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http://dx.doi.org/10.1016/j.clim.2017.08.003DOI Listing
October 2017

Population Pharmacokinetics of Intravenous Busulfan in Japanese Pediatric Patients With Primary Immunodeficiency Diseases.

J Clin Pharmacol 2017 Oct 27. Epub 2017 Oct 27.

Department of Pharmacokinetics and Pharmacodynamics, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan.

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http://dx.doi.org/10.1002/jcph.1027DOI Listing
October 2017

Early hypoperfusion on arterial spin labeling may be a diagnostic marker for acute encephalopathy with biphasic seizures and late reduced diffusion.

Brain Dev 2017 09 3;39(8):722. Epub 2017 May 3.

Department of Pediatrics, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.braindev.2017.04.009DOI Listing
September 2017

Recent advances in the study of immunodeficiency and DNA damage response.

Authors:
Tomohiro Morio

Int J Hematol 2017 Sep 26;106(3):357-365. Epub 2017 May 26.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.

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http://dx.doi.org/10.1007/s12185-017-2263-8DOI Listing
September 2017

Prolonged neutropenia due to antihuman neutrophil antigen 2 (CD177) antibody after bone marrow transplantation.

Pediatr Blood Cancer 2017 Jul 1;64(7). Epub 2016 Dec 1.

Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan.

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http://dx.doi.org/10.1002/pbc.26388DOI Listing
July 2017

A Stable Mixed Chimera After SCT with RIC in an Infant with IκBα Hypermorphic Mutation.

J Clin Immunol 2017 07 21;37(5):413-414. Epub 2017 Feb 21.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, 5-45 Yushima 1-chome, Bunkyo-ku, Tokyo, 113-8519, Japan.

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http://link.springer.com/10.1007/s10875-017-0375-9
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http://dx.doi.org/10.1007/s10875-017-0375-9DOI Listing
July 2017

Multicolor Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases.

J Clin Immunol 2017 Jul 8;37(5):486-495. Epub 2017 Jun 8.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.

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http://dx.doi.org/10.1007/s10875-017-0405-7DOI Listing
July 2017

Ataxia-telangiectasia: Immunodeficiency and survival.

Clin Immunol 2017 05 24;178:45-55. Epub 2017 Jan 24.

Department of Neurology - Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.clim.2017.01.009DOI Listing
May 2017

Amelioration of intractable epilepsy by adjunct vagus nerve stimulation therapy in a girl with a CDKL5 mutation.

Brain Dev 2017 Apr 4;39(4):341-344. Epub 2016 Nov 4.

Department of Pediatrics, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.braindev.2016.10.007DOI Listing
April 2017

Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan.

J Clin Immunol 2017 01 4;37(1):85-91. Epub 2016 Nov 4.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.

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http://dx.doi.org/10.1007/s10875-016-0348-4DOI Listing
January 2017

Neuroprotective effects of human umbilical cord-derived mesenchymal stem cells on periventricular leukomalacia-like brain injury in neonatal rats.

Inflamm Regen 2017 16;37. Epub 2017 Jan 16.

Department of Cellular Physiological Chemistry, Graduate School of Medical and Dental Science, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-Ku, Tokyo, 113-8510 Japan.

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http://dx.doi.org/10.1186/s41232-016-0032-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5725779PMC
January 2017

EWSR1/ELF5 induces acute myeloid leukemia by inhibiting p53/p21 pathway.

Cancer Sci 2016 Dec 25;107(12):1745-1754. Epub 2016 Nov 25.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.

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http://dx.doi.org/10.1111/cas.13080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5198945PMC
December 2016

Lower body weight and BMI at birth were associated with early adiposity rebound in 21-hydroxylase deficiency patients.

Endocr J 2016 Nov 19;63(11):983-990. Epub 2016 Aug 19.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.

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http://dx.doi.org/10.1507/endocrj.EJ16-0194DOI Listing
November 2016

The Potential and Limits of Hematopoietic Stem Cell Transplantation for the Treatment of Autosomal Dominant Hyper-IgE Syndrome.

J Clin Immunol 2016 07 18;36(5):511-6. Epub 2016 Apr 18.

Department of Pediatrics, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, Kanagawa, Japan.

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http://dx.doi.org/10.1007/s10875-016-0278-1DOI Listing
July 2016

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Blood 2016 06 25;127(25):3154-64. Epub 2016 Apr 25.

Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Medical School, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Department of Infectious and Tropical Diseases, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1182/blood-2015-11-679902DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920021PMC
June 2016

A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome.

Hum Genome Var 2016 7;3:16003. Epub 2016 Apr 7.

Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School , Tokushima, Japan.

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http://dx.doi.org/10.1038/hgv.2016.3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4823386PMC
April 2016

Steroid-responsive Status Epilepticus Caused by Human Parvovirus B19 Encephalitis.

Pediatr Infect Dis J 2016 Feb;35(2):227-8

Department of Pediatrics Kawaguchi Municipal Medical Center Kawaguchi, Japan Department of Pediatrics and Developmental Biology Tokyo Medical and Dental University Tokyo, Japan Department of Pediatrics Kawaguchi Municipal Medical Center Kawaguchi, Japan Department of Brain Development and Neural Regeneration Tokyo Metropolitan Institute of Medical Science Tokyo, Japan Department of Pediatrics and Developmental Biology Tokyo Medical and Dental University Tokyo, Japan Department of Pediatrics Kawaguchi Municipal Medical Center Kawaguchi, Japan.

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http://dx.doi.org/10.1097/INF.0000000000000979DOI Listing
February 2016

Two young stroke patients associated with regular intravenous immunoglobulin (IVIg) therapy.

J Neurol Sci 2016 Feb 2;361:9-12. Epub 2015 Dec 2.

Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2015.12.001DOI Listing
February 2016

Haploidentical Bone Marrow Transplantation With Clofarabine and Busulfan Conditioning for a Child With Multiple Recurrent Acute Lymphoblastic Leukemia.

J Pediatr Hematol Oncol 2016 Jan;38(1):e39-41

Departments of *Pediatrics ‡Transfusion Medicine §Pharmacy, Tokyo Medical and Dental University (TMDU) ∥Division of Leukemia and Lymphoma, Children's Cancer Center, National Center for Child Health and Development, Tokyo †Department of Pediatrics, Uwajima City Hospital, Uwajima, Japan.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MPH.0000000000000454DOI Listing
January 2016

A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer.

J Clin Immunol 2016 Jan 8;36(1):28-32. Epub 2015 Dec 8.

Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8553, Japan.

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http://dx.doi.org/10.1007/s10875-015-0221-xDOI Listing
January 2016

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.

J Allergy Clin Immunol 2016 Jan;137(1):223-230

Center for Chronic Immunodeficiency, University Medical Center Freiburg, Freiburg, Germany; UCL Centre for Immunodeficiency, Royal Free Hospital Foundation Trust, London, United Kingdom. Electronic address:

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