YOKO MIZOGUCHI

Last Updated :2025/12/02

Affiliations, Positions
Graduate School of Biomedical and Health Sciences, Associate Professor
E-mail
ymizoguchhiroshima-u.ac.jp

Basic Information

Educational Backgrounds

  • Hiroshima University, Graduate School of Biomedical Sciences, Japan, 2008/04, 2014/01
  • Hiroshima University, School of Medicine, Japan, 1997/04, 2003/03

Academic Degrees

  • Hiroshima University

Research Keywords

  • Congenital neutropenia

Affiliated Academic Societies

  • Japan pediatric society
  • Japanese society of hematology
  • The Japanese society of Pediatric Hematology/Oncology
  • Japanese Society for Transplantation and Cellular Therapy
  • JSIAD
  • The Japanese Society on Thrombosis and Hemostasis
  • The Japan Society of Transfusion Medicine and Cell Therapy
  • the Japan society of human genetics

Educational Activity

Course in Charge

  1. 2025, Undergraduate Education, Year, Systemic Disease Control
  2. 2025, Undergraduate Education, Intensive, Practice of Medicine I
  3. 2025, Undergraduate Education, 2Term, Pediatrics
  4. 2025, Undergraduate Education, 2Term, Pediatrics
  5. 2025, Graduate Education (Master's Program) , Second Semester, General Clinical Medicine and Dentistry

Research Activities

Academic Papers

  1. X-linked severe combined immunodeficiency with Down syndrome identified by newborn screening, Journal of Human Immunity, 20250901
  2. Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis, JOURNAL OF EXPERIMENTAL MEDICINE, 222(9), 20250715
    Link to Paper Search Results by DOI
  3. Fine mapping of heterozygous IL6ST nonsense variants underlying autosomal dominant hyper-IgE syndrome, JCI INSIGHT, 10(14), 20250722
    Link to Paper Search Results by DOI
  4. The Co-Occurrence of Low-Frequency Pathogenic Variants in TBXA2R Exacerbating the Hemorrhagic Symptoms in Siblings with Hemophilia B., Seminars in thrombosis and hemostasis, 20250417
  5. Effectiveness of PK-Guided Personalized Recombinant FVIII Treatment in Patients with Hemophilia A: Clinical Case Experiences Based on an Observational Study, JOURNAL OF BLOOD MEDICINE, 16, 27-39, 2025
    Link to Paper Search Results by DOI
  6. Epilepsy and Other Neurological Complications in Pediatric Patients With Hemophilia Complicated With Intracranial Hemorrhage: A Retrospective Case Series., Cureus, 202411
  7. A Pediatric Case of B Cell Precursor ALL With Blinatumomab-associated Encephalopathy, JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 46(7), e550-e555, 202410
    Link to Paper Search Results by DOI
  8. Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency, JOURNAL OF CLINICAL IMMUNOLOGY, 44(7), 202410
    Link to Paper Search Results by DOI
  9. Generation of complex bone marrow organoids from human induced pluripotent stem cells., Nat Methods., 2024
  10. Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research, IMMUNOLOGICAL REVIEWS, 322(1), 81-97, 202403
    Link to Paper Search Results by DOI
  11. Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC, JOURNAL OF CLINICAL IMMUNOLOGY, 44(1), 202401
    Link to Paper Search Results by DOI
  12. ★, Age-specific incidence of joint disease in pediatric patients with hemophilia: A single-center real-world outcome based on consecutive US examination, Haemophilia, 2023
  13. A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis., PNAS Nexus, 202305
  14. Analyzing mitochondrial respiration of human induced pluripotent stem cell-derived myeloid progenitors using Seahorse technology, STAR PROTOCOLS, 4(1), 20230317
    Link to Paper Search Results by DOI
  15. Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity, JOURNAL OF EXPERIMENTAL MEDICINE, 220(9), 20230605
    Link to Paper Search Results by DOI
  16. Structural basis of spike RBM-specific human antibodies counteracting broad SARS-CoV-2 variants, COMMUNICATIONS BIOLOGY, 6(1), 20230411
    Link to Paper Search Results by DOI
  17. ★, Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes, BLOOD, 141(6), 645-658, 20230209
    Link to Paper Search Results by DOI
  18. Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-19, JOURNAL OF CLINICAL IMMUNOLOGY, 42(7), 1360-1370, 202210
    Link to Paper Search Results by DOI
  19. Mendelian susceptibility to mycobacterial diseases: state of the art, CLINICAL MICROBIOLOGY AND INFECTION, 28(11), 1429-1434, 202211
    Link to Paper Search Results by DOI
  20. ★, Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes, Blood, 2022
  21. Mendelian susceptibility to mycobacterial diseases: state of the art., Clin Microbiol Infect, 2022
  22. X-linked recessive TLR7 deficiency in 1% of men under 60 years., Science Immunology, 2021
  23. Autoantibodies neutralizing type I IFNs are present in ~ 4% of uninfected individuals over 70 years and account for ~ 20% of COVID-19 deaths., Science immunology, 2021
  24. Human T-bet governs the generation of a distinct subset of CD11c(high)CD21(low) B cells, SCIENCE IMMUNOLOGY, 7(73), 202207
    Link to Paper Search Results by DOI
  25. HAX1-dependent control of mitochondrial proteostasis governs neutrophil granulocyte differentiation, JOURNAL OF CLINICAL INVESTIGATION, 132(9), 20220502
    Link to Paper Search Results by DOI
  26. Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-gamma, J Allergy Clin Immunol., 2021
  27. Inborn Errors of STAT1 Immunity, Curr Opin Immunol., 72, 59-64, 2021
  28. Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings, JOURNAL OF CLINICAL IMMUNOLOGY, 41(5), 975-986, 2021
    Link to Paper Search Results by DOI
  29. Mammalian VPS45 orchestrates trafficking through the endosomal system, BLOOD, 2020
    Link to Paper Search Results by DOI
  30. IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation, JOURNAL OF CLINICAL IMMUNOLOGY, 2020
  31. Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations, INTERNATIONAL IMMUNOLOGY, 32(10), 663-671, 2020
  32. Genetic Deficiency and Biochemical Inhibition of ITK Affect Human Th17, Treg, and Innate Lymphoid Cells, Journal of Clinical Immunology, 39(4), 391-400, 20190515
  33. Neutropenia (In infancy and childhood), Hematological Disorders in Children: Pathogenesis and Treatment, 109-113, 20170614
  34. Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 137(2), 619-622, 2016
  35. Early eradication of factor VIII inhibitor in patients with congenital hemophilia A by immune tolerance induction with a high dose of immunoglobulin, INTERNATIONAL JOURNAL OF HEMATOLOGY, 103(4), 473-477, 2016
    Link to Paper Search Results by DOI
  36. ★, Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis, JOURNAL OF LEUKOCYTE BIOLOGY, 95(4), 667-676, 2014
    Link to Paper Search Results by DOI
  37. Wnt3a stimulates maturation of impaired neutrophils developed from severe congenital neutropenia patient-derived pluripotent stem cells, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 110(8), 3023-3028, 2013
    Link to Paper Search Results by DOI
  38. Management of advanced-stage neuroblastoma in a patient with 21-hydroxalase deficiency, PEDIATRICS INTERNATIONAL, 55(4), E96-E99, 2013
  39. A Case of Neonatal Coxsackie B2 Meningo-Encephalitis in which Serial Magnetic Resonance Imaging Findings Reveal the Development of Lesions, NEUROPEDIATRICS, 42(4), 156-158, 2011
  40. Decreased Expression in Nuclear Factor-kappa B Essential Modulator Due to a Novel Splice-Site Mutation Causes X-linked Ectodermal Dysplasia with Immunodeficiency, JOURNAL OF CLINICAL IMMUNOLOGY, 31(5), 762-772, 2011
  41. Significance of immature platelet fraction and CD41-positive cells at birth in early onset neonatal thrombocytopenia, INTERNATIONAL JOURNAL OF HEMATOLOGY, 91(2), 245-251, 2010
  42. ★, Juvenile myelomonocytic leukemia with t(7;11)(p15;p15) and NUP98-HOXA11 fusion, AMERICAN JOURNAL OF HEMATOLOGY, 84(5), 295-297, 2009
    Link to Paper Search Results by DOI
  43. Deficiency of regulatory T cells in children with autoimmune neutropenia, BRITISH JOURNAL OF HAEMATOLOGY, 145(5), 642-647, 2009
  44. Steroid-dependent ACTH-produced thymic carcinoid: Regulation of POMC gene expression by cortisol via methylation of its promoter region, HORMONE RESEARCH, 67(5), 257-262, 2007
  45. A case of adolescent primary adrenal natural killer cell lymphoma, INTERNATIONAL JOURNAL OF HEMATOLOGY, 81(4), 330-334, 2005
  46. Inborn errors of STAT1 immunity, CURRENT OPINION IN IMMUNOLOGY, 72, 91-96, 202110
    Link to Paper Search Results by DOI
  47. Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-gamma, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 149(1), 252-+, 202201
    Link to Paper Search Results by DOI
  48. A case of adolescent primary adrenal natural killer cell lymphoma., International journal of hematology, 81(4), 2005
  49. Inborn errors of STAT1 immunity., Current opinion in immunology, 72, 2021
  50. Mendelian susceptibility to mycobacterial diseases: state of the art., Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases, 28(11), 2022
  51. Human T-bet governs the generation of a distinct subset of CD11chighCD21low B cells., Science immunology, 7(73), 2022
  52. Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes., Blood, 141(6), 2023
  53. Corrigendum to 'Mendelian susceptibility to mycobacterial diseases: state-of-the-art' [Clin Microbiol Infect 28(11) (2022 Nov) 2876]., Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases, 29(3), 2023
  54. Structural basis of spike RBM-specific human antibodies counteracting broad SARS-CoV-2 variants., Communications biology, 6(1), 2023
  55. A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis., PNAS nexus, 2(4), 2023
  56. Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity., The Journal of experimental medicine, 220(9), 2023
  57. Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC., Research square, 2023
  58. Age-specific incidence of joint disease in paediatric patients with haemophilia: A single-centre real-world outcome based on consecutive US examination., Haemophilia : the official journal of the World Federation of Hemophilia, 29(5), 2023
  59. Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research., Immunological reviews, 322(1), 2024
  60. Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC., Journal of clinical immunology, 44(1), 2023
  61. Generation of complex bone marrow organoids from human induced pluripotent stem cells., Nature methods, 21(5), 2024
  62. Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency., Journal of clinical immunology, 44(7), 2024
  63. Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency., Journal of clinical immunology, 44(8), 2024
  64. Epilepsy and Other Neurological Complications in Pediatric Patients With Hemophilia Complicated With Intracranial Hemorrhage: A Retrospective Case Series., Cureus, 16(11), 2024
  65. Effectiveness of PK-Guided Personalized Recombinant FVIII Treatment in Patients with Hemophilia A: Clinical Case Experiences Based on an Observational Study., Journal of blood medicine, 16, 2025
  66. Fine mapping of heterozygous IL6ST nonsense variants underlying autosomal dominant hyper-IgE syndrome., JCI insight, 10(14), 2025
  67. Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis., The Journal of experimental medicine, 222(9), 2025
  68. Multiple Hematopoietic Stem Cell Transplantations in Pediatric Acute Myeloid Leukemia: Prognostic Significance of Remission and Severe Sinusoidal Obstruction Syndrome., Pediatric blood & cancer, 72(12), 2025

Invited Lecture, Oral Presentation, Poster Presentation

  1. Impact of novel variant in HYOU1 on neutrophil properties., Yoko Mizoguchi, Fumiaki Sakura, Etsushi Toyofuku, Tadashi Anan, Kensaku Kohrogi, Fumiko Honda-OZAKI, Kohsuke Imai, Takashi Kato, Izumi Sasaki, Tsuneyasu Kaisho, Mikko RJ Seppänen, Satoshi Okada, Hirokazu Kanegane, 21th Biennial meeting of the European society for immunodeficiencies, 2024/10/18, Without Invitation, English
  2. Successful donor marrow leukocyte infusion for cases with mixed chimerism following RIST from MRDs, Yoko Mizoguchi, Yusuke Imanaka, Kosuke Noma, Maki Taniguchi, Risa Matsumura, Takaki Asano, Takehiko Doi, Shinji Mochizuki, Hiroshi Kawaguchi, Satoshi Okada, and Masao Kobayashi., 2024/03/23, Without Invitation, Japanese
  3. Consecutive US examination revealed a significance of joint evaluation on preventing joint disease in pediatric patients with hemophilia., Yoko Mizoguchi, Chihiro Tani, Keita Tomioka, Maiko Shimomura, Shiho Nishimura, Yoshiko Matsubara, Hiroshi Kawaguchi, Yuko Nakashima, Satoshi Okada and Masao Kobayashi, 2022/11/25, Without Invitation, Japanese
  4. The efficacy of continuous US evaluation for joint health in pediatric patients with hemophilia, Yoko Mizoguchi, Chihiro Tani, Shiho Nishimura, Keiko Matsubara, Keita Tomioka, Maiko Shimomura, Yuko Nakashima, Hiroshi Kawaguchi, Satoshi Okada and Masao Kobayashi, 2021/09/23, Without Invitation, English
  5. Neutropenia caused by monogenic defects of the Signal Recognition Particle (SRP) complex, Yoko Mizoguchi, Sebastian Hesse, Monika Linder, Natalia Zietara, Marcin Lyszkiewicz, Yanshan Liu, Megumi Tatematsu, Piotr Grabowsky, Tim Jeske, Sebastian Hollizeck, Ejona Rusha, Zahra Alizadeh, Zahra Pourpak, Sorin Iurian, Nima Razaei, Ekrem Unal, Micha Drukker, Barbara Walzog, Fabian Hauck, Megumu Saito, Satoshi Okada, Masao Kobayashi, Juri Rappsilber, Christoph Klein, 2021/02/06, Without Invitation, Japanese
  6. Proteotypic imbalances in neutrophil granulocytes with monogenic disorders associated with congenital neutropenia, 2020/11/20, Without Invitation, Japanese

External Funds

Acceptance Results of Competitive Funds

  1. 2023, 2023
  2. 2023, 2025
  3. Development of stem cell gene therapy for Severe Congenital Neutropenia (SCN), 2021, 2025
  4. 2021, 2023
  5. KAKENHI(Grant-in-Aid for Early-Career Scientists), 2021, 2022
  6. Development of early prediction system for the risk of severe COVID-19 by measuring autoantibodies against type I interferons, 2021, 2021
  7. 2015, 2015