Last Updated :2024/06/11

Affiliations, Positions
Graduate School of Biomedical and Health Sciences(Medicine), Professor
I am a pediatrician and taking care of children with hematological, immunological, or endocrinological diseases. My field of study is inborn errors of immunity (IEI). Since IEI is a rare diseases, both domestic and international joint research is quite important. I would like to engage in collaborative study and conduct high-quality research.

Basic Information

Major Professional Backgrounds

  • 2020/03/01, Hiroshima University, Graduate School of Biomedical and Health Sciences, Professor
  • 2019/04/01, 2020/02/29, Hiroshima University, Graduate School of Biomedical and Health Sciences, Lecturer
  • 2015/06/01, 2019/03/31, Hiroshima University, Institute of Biomedical & Health Sciences, Lecturer
  • 2010/03/01, The Rockefeller University, St. Giles Laboratory of Human Genetics of Infectious Diseases, Postdoctral Associate
  • 2009/06/01, 2015/05/31, Hiroshima University, Department of Pediatrics, Assistant Professor
  • 2007/04/01, 2009/05/31, Hiroshima University Hospital, Hospital, Clinical Fellow
  • 2004/06/01, 2007/03/31, Hiroshima University Hospital, Hospital, Clinical Fellow
  • 1999/05/16, 2000/03/30, Hiroshima University, Hospital, Clinical Resident

Educational Backgrounds

  • Hiroshima University, Graduate School, Division of Medical Sciences, Programs for Applied Biomedicine, Japan, 2007/09
  • The University of Tokushima, Faculty of Medicine, Faculty of Medicine, Japan, 1993/04, 1999/03

Academic Degrees

  • Hiroshima University

Educational Activity

  • [Bachelor Degree Program] School of Medicine : Program of Medicine : Medicine
  • [Master's Program] Graduate School of Biomedical and Health Sciences : Division of Integrated Health Sciences
  • [Doctoral Program] Graduate School of Biomedical and Health Sciences : Division of Biomedical Sciences : Program of Medicine

Research Fields

  • Medicine,dentistry, and pharmacy;Clinical internal medicine;Pediatrics

Research Keywords

  • COVID-19
  • CMCD
  • MSMD
  • neutropenia
  • immunodeficiency

Affiliated Academic Societies

  • British Society for Immunology
  • European Society for Immunodeficiencies
  • Japan Pediatric Society
  • Japanese Society of Hematology
  • The Japanese Society of Pediatric Hematology/Oncology
  • The Japan Society for Hematopoitetic Cell Transplantation
  • The Japan Endocrine Society
  • The Japanese Society for Pediatric Endocrinology
  • The Japan Society of Human Genetics
  • Japanese Society of Immunlogy
  • The Japan Society for Clinical Immunology
  • Japanese Society for MassScreening

Educational Activity

Course in Charge

  1. 2024, Undergraduate Education, First Semester, Human genetics
  2. 2024, Undergraduate Education, Year, Systemic Disease Control
  3. 2024, Undergraduate Education, Intensive, Practice for medical research
  4. 2024, Undergraduate Education, Intensive, Practice of Medicine I
  5. 2024, Undergraduate Education, Intensive, Practice of Medicine II
  6. 2024, Graduate Education (Master's Program) , First Semester, Seminar
  7. 2024, Graduate Education (Master's Program) , Second Semester, Seminar
  8. 2024, Graduate Education (Master's Program) , First Semester, Research
  9. 2024, Graduate Education (Master's Program) , Second Semester, Research
  10. 2024, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar on Pediatrics
  11. 2024, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar on Pediatrics
  12. 2024, Graduate Education (Doctoral Program) , First Semester, Advanced Research on Pediatrics
  13. 2024, Graduate Education (Doctoral Program) , Second Semester, Advanced Research on Pediatrics
  14. 2024, Graduate Education (Master's Program) , First Semester, Basic Human Genetics Practice
  15. 2024, Graduate Education (Master's Program) , First Semester, Genetic services informatics, Practice
  16. 2024, Graduate Education (Master's Program) , First Semester, Research on Genetic Counseling
  17. 2024, Graduate Education (Master's Program) , Second Semester, Research on Genetic Counseling
  18. 2024, Graduate Education (Doctoral Program) , 2Term, Trends of Genome Editing in Medical Science

Research Activities

Academic Papers

  1. Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC, Journal of Clinical Immunology, 44(1), 18, 20231222
  2. Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function, JOURNAL OF CLINICAL IMMUNOLOGY, 44(1), 20, 20231222
  3. Remote audit practice for inspection of structural and equipment standards for cell processing facilities under the act on the safety of regenerative medicine in Japan., REGENERATIVE THERAPY, 25, 85-91, 20231216
  4. Interfering with Interferons: A Critical Mechanism for Critical COVID-19 Pneumonia, ANNUAL REVIEW OF IMMUNOLOGY, 41, 561-585, 202304
  5. Bacille Calmette-Guérin Vaccine-Induced Tuberculous Elbow Osteomyelitis in an Infant: A Case Report., JBJS Case Connector, 13(3), 202308
  6. Lethal Interstitial Lung Disease Associated with a Gain-of-Function Mutation in IFIH1, Journal of Clinical Immunology, 43(6), 1143-1146, 202308
  7. Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia., Journal of Experimental Medicine, 220(5), e20220170, 202405
  8. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19, Genome Medicine, 15(1), 22, 202304
  9. Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children., Journal of Allergy and Clinical Immunology, 151(4), 832-840, 202304
  10. Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity, Journal of Allergy and Clinical Immunology, 151(4), 818-831, 202304
  11. Successful Bone Marrow Transplantation in a Patient with Acute Myeloid Leukemia Developed from Severe Congenital Neutropenia Using Modified Chemotherapy and Conditioning Regimen for Leukemia, HEMATOLOGY REPORTS, 16(1), 98-105, 202403
  12. Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan, INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 10(1), 202403
  13. Autoantibodies against type I IFNs in humans with alternative NF-kB pathway deficiency, NATURE, 623(7988), 803-813, 20231123
  14. Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children, SCIENCE, 379(6632), 554-+, 20230210
  15. Safety and Tolerability of COVID-19 Vaccination in Adolescents and Young Adults with Epilepsy: A Multicenter Questionnaire Study, JOURNAL OF PEDIATRIC EPILEPSY, 13(01), 1-5, 202403
  16. 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
  17. Achaete-scute family bHLH transcription factor 2 activation promotes hepatoblastoma progression, CANCER SCIENCE, 115(3), 847-858, 202403
  18. Pharmacokinetics, safety, and efficacy of 20% subcutaneous immunoglobulin (Ig20Gly) administered weekly or every 2 weeks in Japanese patients with primary immunodeficiency diseases: a phase 3, open-label study, IMMUNOTHERAPY ADVANCES, 4(1), 20240101
  19. Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children, JOURNAL OF EXPERIMENTAL MEDICINE, 221(2), 20240104
  20. A Successful Infliximab Treatment of a Pediatric Case of Severe Polyarteritis Nodosa With a Cerebral Infarction and a Decreased Adenosine Deaminase 2 Activity, CUREUS JOURNAL OF MEDICAL SCIENCE, 15(10), e47952, 20231030
  21. Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency, PEDIATRIC ALLERGY AND IMMUNOLOGY, 35(2), 202402
  22. Age-specific incidence of joint disease in paediatric patients with haemophilia: A single-centre real-world outcome based on consecutive US examination, HAEMOPHILIA, 29(5), 1359-1365, 202309
  23. A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1 a in mice with G6PCc.648G>T, JOURNAL OF CLINICAL INVESTIGATION, 133(23), e163464, 20231003
  24. Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity., INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 9(4), e163464, 202312
  25. Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function, IMMUNOTHERAPY ADVANCES, 3(1), 20230101
  26. Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function, JOURNAL OF CLINICAL IMMUNOLOGY, 44(1), 202401
  27. Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC, JOURNAL OF CLINICAL IMMUNOLOGY, 44(1), 202401
  28. Remote audit practice for inspection of structural and equipment standards for cell processing facilities under the act on the safety of regenerative medicine in Japan, REGENERATIVE THERAPY, 25, 85-91, 202403
  29. Patient-reported outcomes in patients with primary immunodeficiency diseases in Japan: baseline results from a prospective observational study, FRONTIERS IN IMMUNOLOGY, 14, 1244250, 20230927
  30. Clinical significance of human neutrophil antigen-1 antibodies in children with neutropenia, INTERNATIONAL JOURNAL OF HEMATOLOGY, 118(5), 627-635, 202311
  31. A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis, PNAS NEXUS, 2(4), pgad104, 20230403
  32. Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Influential Factors on Adherence, PATIENT PREFERENCE AND ADHERENCE, 17, 1885-1894, 2023
  33. ★, Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity, JOURNAL OF EXPERIMENTAL MEDICINE, 220(9), e20212276, 20230605
  34. Human IL-23 is essential for IFN-y-dependent immunity to mycobacteria, SCIENCE IMMUNOLOGY, 8(80), eabq5204, 202302
  35. Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3K delta syndrome 2, JOURNAL OF EXPERIMENTAL MEDICINE, 220(6), e20221020, 20230321
  36. Pirarubicin Combination Low-Dose Chemotherapy for Early Infantile Stage MS Neuroblastoma: Case Report, CHILDREN-BASEL, 10(5), 871, 20230512
  37. Influence of growth hormone therapy on germinoma survivors., Pituitary, 25(6), 854-860, 202212
  38. Autoantibodies against type I IFNs in patients with critical influenza pneumonia, Journal of Experimental Medicine, 219(11), e20220514-e20220514, 202211
  39. Myocarditis in 13-year-old monochorionic diamniotic twins after COVID-19 vaccination, Journal of Clinical Immunology, 42(7), 1351-1353, 202210
  40. Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis., Journal of Clinical Immunology, 42(7), 1354-1359, 202210
  41. Anti-integrin alpha v beta 6 antibody as a diagnostic marker for pediatric patients with ulcerative colitis., Gastroenterology, 163(4), 1094-1097, 202210
  42. Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: Nationwide project in Japan to discover causes, mechanisms, and cures, Journal of Human Genetics, 67(9), 505-513, 202209
  43. Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia., Journal of Experimental Medicine, 219(8), e20220131-e20220131, 202208
  44. Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs, Science Immunology, 7(73), eabp8966-eabp8966, 202208
  45. Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency., Journal of Experimental Medicine, 219(7), e20220202-e20220202, 202207
  46. The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening, Molecular Genetics and Metabolism, 136(1), 74-79, 202203
  47. A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia, American Journal of Medical Genetics Part A, 188(5), 1612-1617, 202205
  48. Studying severe long COVID to understand post-infectious disorders beyond COVID-19., Nature Medicine, 28(5), 879-882, 202205
  49. Clinical impact of the dose and blood concentration of lacosamide in Japanese pediatric patients with epilepsy: A cohort study, EPILEPSY & BEHAVIOR, 129, 108614-108614, 202204
  50. Human genetic and immunological determinants of critical COVID-19 pneumonia, Nature, 603(7902), 587-598, 202203
  51. Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms, Journal of Human Genetics, 67(3), 157-164, 202203
  52. Early diagnosis of partial interferon-g receptor 1 deficiency prevents the development of Bacille de Calmette et Guérin osteomyelitis, Clinical Immunology, 235, 108933-108933, 202202
  53. Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1, CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 212(2), 96-106, 20230425
  54. Structural basis of spike RBM-specific human antibodies counteracting broad SARS-CoV-2 variants, COMMUNICATIONS BIOLOGY, 6(1), 395, 20230411
  55. Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality, FRONTIERS IN IMMUNOLOGY, 14, 1121059, 20230418
  56. Effect of Lacosamide therapy on blood cells and IgA levels in children and adolescents with epilepsy in a clinical setting, EPILEPSY RESEARCH, 187, 202211
  57. Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases, JOURNAL OF CLINICAL IMMUNOLOGY, 43(2), 466-478, 202302
  58. Evaluation of cerebrospinal fluid biomarkers in pediatric patients with spinal muscular atrophy, BRAIN & DEVELOPMENT, 45(1), 2-7, 202201
  59. Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-19, JOURNAL OF CLINICAL IMMUNOLOGY, 42(7), 1360-1370, 202210
  60. ★, Mendelian susceptibility to mycobacterial diseases: state of the art, CLINICAL MICROBIOLOGY AND INFECTION, 28(11), 1429-1434, 202211
  61. Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience, FRONTIERS IN IMMUNOLOGY, 13, 20220923
  62. Recombinant human soluble thrombomodulin and danaparoid combination anticoagulant therapy for disseminated intravascular coagulation in a child with streptococcal toxic shock syndrome: A case report, EXPERIMENTAL AND THERAPEUTIC MEDICINE, 24(6), 714-714, 202212
  63. The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 119(21), e2200413119-e2200413119, 20220524
  64. Concomitant Cytotoxic Effector Differentiation of CD4(+) and CD8(+) T Cells in Response to EBV-Infected B Cells, CANCERS, 14(17), 4118-4118, 202209
  65. Human T-bet governs the generation of a distinct subset of CD11c(high)CD21(low) B cells, SCIENCE IMMUNOLOGY, 7(73), eabq3277-eabq3277, 202207
  66. Therapeutic options for CTLA-4 insufficiency, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 149(2), 736-746, 202202
  67. ★, Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-gamma, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 149(1), 252-261, 202201
  68. A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection, NATURE IMMUNOLOGY, 23(2), 159-164, 202202
  69. ★, X-linked recessive TLR7 deficiency in similar to 1% of men under 60 years old with life-threatening COVID-19, SCIENCE IMMUNOLOGY, 6(62), eabl4348-eabl4348, 20210801
  70. ★, Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation, SCIENCE ADVANCES, 7(4), eabe2116-eabe2116, 202101
  71. ★, Inborn errors of STAT1 immunity, Current Opinion in Immunology, 72, 59-64, 20211001
  72. ★, A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS, NATURE IMMUNOLOGY, 22(7), 893-903, 202107
  73. ★, Autoantibodies neutralizing type I IFNs are present in similar to 4% of uninfected individuals over 70 years old and account for similar to 20% of COVID-19 deaths, SCIENCE IMMUNOLOGY, 6(62), eabl4340-eabl4340, 20210801
  74. ★, The expansion of human T-bet(high)CD21(low) B cells is T cell dependent, SCIENCE IMMUNOLOGY, 6(64), eabh0891-eabh0891, 202110
  75. Heterozygous missense variant of the proteasome subunit beta-type 9 causes neonatal-onset autoinflammation and immunodeficiency, NATURE COMMUNICATIONS, 12(1), 6819-6819, 20211124
  76. ★, Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants, AMERICAN JOURNAL OF HUMAN GENETICS, 108(12), 2301-2318, 20211202
  77. ★, A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection, Cell, 181(6), 1194-1199, 20200611
  78. ★, APRIL-dependent lifelong plasmacyte maintenance and immunoglobulin production in humans, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 146(5), 1109-1120, 202011
  79. ★, Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation, Annals of the Rheumatic Diseases, 79(11), 1492-1499, 20201101
  80. ★, Autoantibodies against type I IFNs in patients with life-threatening COVID-19, Science, 370(6515), eabd4585-eabd4585, 20201023
  81. ★, Inborn errors of type I IFN immunity in patients with life-threatening COVID-19, Science, 370(6515), eabd4570-eabd4570, 20201023
  82. ★, Germline-Activating RRAS2 Mutations Cause Noonan Syndrome, American Journal of Human Genetics, 104(6), 1233-1240, 20190606
  83. Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects, Journal of Allergy and Clinical Immunology, 142(6), 1932-1946, 20181201
  84. ★, Gain-of-function IKBKB mutation causes human combined immune deficiency, Journal of Experimental Medicine, 215(11), 2715-2724, 20181101
  85. ★, Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection, Cell, 172(5), 952-965.e18, 20180222
  86. ★, Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations, Journal of Allergy and Clinical Immunology, 141(2), 704-717.e5, 20180201
  87. Human IFN- immunity to mycobacteria is governed by both IL-12 and IL-23, Science Immunology, 3(30), 20180101
  88. ★, Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants, Journal of Allergy and Clinical Immunology, 140(1), 232-241, 20170701
  89. ★, Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations, Journal of Allergy and Clinical Immunology, 140(1), 223-231, 20170701
  90. ★, Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency, Proceedings of the National Academy of Sciences of the United States of America, 113(51), E8277-E8285, 20161220
  91. Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase delta syndrome–like immunodeficiency, Journal of Allergy and Clinical Immunology, 138(6), 1672-1680.e10, 20161201
  92. ★, Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype, Blood, 127(25), 3154-3164, 20160623
  93. 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.e1, 20160201
  94. Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies, Journal of Allergy and Clinical Immunology, 136(4), 993-1006.e1, 20151001
  95. ★, Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome, Journal of Experimental Medicine, 212(10), 1641-1662, 20150921
  96. ★, Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations, Science, 349(6248), 606-613, 20150807
  97. ★, Inherited DOCK2 deficiency in patients with early-onset invasive infections, New England Journal of Medicine, 372(25), 2409-2422, 20150618
  98. ★, Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency, Science, 348(6233), 448-453, 20150424
  99. ★, Human intracellular ISG15 prevents interferon-a/b over-amplification and auto-inflammation, Nature, 517(7532), 89-93, 20150101
  100. Age-dependent association between pulmonary tuberculosis and common TOX variants in the 8q12-13 linkage region, American Journal of Human Genetics, 92(3), 407-414, 20130307
  101. Partial IFN-gR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation, Blood, 122(14), 2390-2401, 20130101
  102. ★, Mycobacterial disease and impaired IFN-g immunity in humans with inherited ISG15 deficiency, Science, 337(6102), 1684-1688, 20120928
  103. Inborn errors of human STAT1: Allelic heterogeneity governs the diversity of immunological and infectious phenotypes, Current Opinion in Immunology, 24(4), 364-378, 20120801
  104. Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency, Blood, 119(23), 5458-5466, 20120607
  105. DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice, Journal of Experimental Medicine, 208(11), 2305-2320, 20111024
  106. ★, Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis, Journal of Experimental Medicine, 208(18), 1635-1648, 20110801
  107. Quantification of k-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects, Journal of Allergy and Clinical Immunology, 128(1), 223-225.e2, 20110101
  108. ★, Hoxb4 transduction down-regulates Geminin protein, providing hematopoietic stem and progenitor cells with proliferation potential, Proceedings of the National Academy of Sciences of the United States of America, 107(50), 21529-21534, 20101214
  109. ★, Polycomb-group complex 1 acts as an E3 ubiquitin ligase for Geminin to sustain hematopoietic stem cell activity, Proceedings of the National Academy of Sciences of the United States of America, 105(30), 10396-10401, 20080729
  110. The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening, MOLECULAR GENETICS AND METABOLISM, 136(1), 74-79, 202205
  111. Early diagnosis of partial interferon-gamma receptor 1 deficiency prevents the development of Bacille de Calmette et Guerin osteomyelitis, CLINICAL IMMUNOLOGY, 235, 202202
  112. Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms, JOURNAL OF HUMAN GENETICS, 67(3), 157-164, 202203
  113. Clinical impact of the dose and blood concentration of lacosamide in Japanese pediatric patients with epilepsy: A cohort study, EPILEPSY & BEHAVIOR, 129, 108614-108614, 202204
  114. From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic‒Associated Pernio, Journal of Investigative Dermatology, 141(12), 2791-2796, 20211201
  115. Case Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association, Frontiers in Immunology, 12, 760019-760019, 20211201
  116. Association of rare predicted loss-of-function variants of influenza-related type I IFN genes with critical COVID-19 pneumonia, Journal of Clinical Investigation, 131(15), e152474-e152474, 20210801
  117. ★, SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?, Journal of Experimental Medicine, 218(6), e20210446-e20210446, 20210601
  118. IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation, JOURNAL OF CLINICAL IMMUNOLOGY, 41(1), 125-135, 202101
  119. Bone marrow transplantation from a human leukocyte antigen-mismatched unrelated donor in a case with C1q deficiency associated with refractory systemic lupus erythematosus, INTERNATIONAL JOURNAL OF HEMATOLOGY, 113(2), 302-307, 202102
  120. Functional analysis of novel A20 variants in patients with atypical inflammatory diseases, ARTHRITIS RESEARCH & THERAPY, 23(1), 52-52, 20211206
  121. A Novel Homozygous Mutation Destabilizes IKK beta and Leads to Human Combined Immunodeficiency, FRONTIERS IN IMMUNOLOGY, 11, 517544-517544, 20210215
  122. T2-FLAIR Mismatch Sign and Response to Radiotherapy in Diffuse Intrinsic Pontine Glioma, PEDIATRIC NEUROSURGERY, 56(1), 1-9, 202103
  123. Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3, Journal of Clinical Immunology, 41(4), 780-790, 20210501
  124. Possible involvement of regulatory T cell abnormalities and variational usage of TCR repertoire in children with autoimmune neutropenia, Clinical and Experimental Immunology, 204(1), 1-13, 20210401
  125. Successful Hematopoietic Stem Cell Transplantation for Autosomal Recessive STAT1 Complete Deficiency, Journal of Clinical Immunology, 41(3), 684-687, 20210401
  126. Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings, Journal of Clinical Immunology, 45(5), 975-986, 20210101
  127. Pneumococcal Serotype-specific Opsonophagocytic Activity in Interleukin-1 Receptor-associated Kinase 4-deficient Patients, Pediatric Infectious Disease Journal, 40(5), 460-463, 20210101
  128. Inhibition of HECT E3 ligases as potential therapy for COVID-19, CELL DEATH & DISEASE, 12(4), 310-310, 20210324
  129. Novel STAT-3 gain-of-function variant with hypogammaglobulinemia and recurrent infection phenotype, CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 205(3), 354-362, 202109
  130. Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation, INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 7(3), 39-39, 202109
  131. Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant, INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 7(3), 35-35, 202109
  132. NBS1 I171V variant underlies individual differences in chromosomal radiosensitivity within human populations, SCIENTIFIC REPORTS, 11(1), 19661-19661, 20211004
  133. Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency, JOURNAL OF IMMUNOLOGY, 207(1), 133-152, 20210701
  134. Ruxolitinib treatment of a patient with steroid-dependent severe autoimmunity due to STAT1 gain-of-function mutation, International Journal of Hematology, 112(2), 258-262, 20200801
  135. Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity, Journal of Clinical Immunology, 40(5), 729-740, 20200701
  136. Human gain-of-function stat1 mutation disturbs il-17 immunity in mice, International Immunology, 32(4), 259-272, 20200401
  137. A case report of a Japanese boy with morquio a syndrome: Effects of enzyme replacement therapy initiated at the age of 24 months, International Journal of Molecular Sciences, 21(3), 989-989, 20200201
  138. Downregulation of endothelial nitric oxide synthase (eNOS) and endothelin-1 (ET-1) in a co-culture system with human stimulated X-linked CGD neutrophils, PLoS ONE, 15(4), e0230665-e0230665, 20200101
  139. Successful allogeneic bone marrow transplantation using immunosuppressive conditioning regimen for a patient with red blood cell transfusiondependent pyruvate kinase deficiency anemia, Hematology Reports, 12(1), 8305-8305, 20200101
  140. A nationwide questionnaire survey targeting japanese pediatric endocrinologists regarding transitional care in childhood, adolescent, and young adult cancer survivors, Clinical Pediatric Endocrinology, 29(2), 55-62, 20200101
  141. Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation, FRONTIERS IN IMMUNOLOGY, 11, 557521-557521, 20200929
  142. Clinical Significance of Serum Soluble TNF Receptor I/II Ratio for the Differential Diagnosis of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome From Other Autoinflammatory Diseases, FRONTIERS IN IMMUNOLOGY, 11, 576152-576152, 20201014
  143. Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations, INTERNATIONAL IMMUNOLOGY, 32(10), 663-671, 202010
  144. Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy, Journal of Clinical Immunology, 40(8), 1065-1081, 20201101
  145. Ruxolitinib Response in an Infant With Very-early-onset Inflammatory Bowel Disease and Gain-of-function STAT1 Mutation, Journal of pediatric gastroenterology and nutrition, 71(4), e132-e133, 20201001
  146. Effects of perampanel add-on therapy on immunoglobulin levels in pediatric patients with epilepsy, Epilepsy Research, 167, 106447-106447, 202011
  147. Life-Threatening COVID-19: Defective Interferons Unleash Excessive Inflammation, Med (NY), 1(1), 14-20, 20201218
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  151. Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency, International Journal of Hematology, 109(4), 382-389, 20190405
  152. ★, Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency, JOURNAL OF CLINICAL INVESTIGATION, 129(2), 583-597, 20190201
  153. Increased risk for malignancies in 131 affected CTLA4 mutation carriers, Frontiers in Immunology, 9(SEP), 20180910
  154. Enhanced AKT phosphorylation of circulating B cells in patients with activated PI3Kdelta syndrome, Frontiers in Immunology, 9(APR), 20180405
  155. Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan, Hormone Research in Paediatrics, 89(3), 166-171, 20180401
  156. Flow cytometry-based diagnosis of primary immunodeficiency diseases, Allergology International, 67(1), 43-54, 20180101
  157. Individual clinically diagnosed with CHARGE syndrome but with a mutation in KMT2D, a gene associated with Kabuki syndrome: A case report, Frontiers in Genetics, 8(DEC), 20171211
  158. Significant augmentation of regulatory T cell numbers occurs during the early neonatal period, Clinical and Experimental Immunology, 190(2), 268-279, 20171101
  159. Anti-human neutrophil antigen-1a, -1b, and -2 antibodies in neonates and children with immune neutropenias analyzed by extracted granulocyte antigen immunofluorescence assay, Transfusion, 57(11), 2586-2594, 20171101
  160. Newborn screening for carnitine palmitoyltransferase II deficiency using (C16 + C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity, Molecular Genetics and Metabolism, 122(3), 67-75, 20171101
  161. A case with Spondyloenchondrodysplasia treated with growth hormone, Frontiers in Endocrinology, 8(JUL), 20170710
  162. Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial, Clinical Endocrinology, 87(1), 10-19, 20170701
  163. A Gain-of-function mutation of stat1: A novel genetic factor contributing to chronic mucocutaneous candidiasis, Acta Microbiologica et Immunologica Hungarica, 64(2), 191-201, 20170601
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  167. Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan, Clinical Pediatric Endocrinology, 26(4), 207-213, 20170101
  168. Screening of MCAD deficiency in Japan: 16 years' experience of enzymatic and genetic evaluation, Molecular Genetics and Metabolism, 119(4), 322-328, 20161201
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  173. Mosaicism of an ELANE Mutation in an Asymptomatic Mother in a Familial Case of Cyclic Neutropenia, Journal of Clinical Immunology, 35(5), 512-516, 20150725
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  186. Decreased expression in nuclear factor-kB essential modulator due to a novel splice-site mutation causes X-linked ectodermal dysplasia with immunodeficiency, Journal of Clinical Immunology, 31(5), 762-772, 20111001
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Invited Lecture, Oral Presentation, Poster Presentation

  1. Augmentation of osteoclast formation and its function in patients with MSMD due to impaired response to IFN-g., Miyuki Tsumura, Mizuka Miki, Yoko Mizoguchi, Reiko Kagawa, Seiichi Hayakawa, Satoshi Okada, ESID meeting 2021, 2021/09/27, Without Invitation, English, European Society for Immunodeficiencies, Web
  2. Primary immunodeficiency caused by gain-of-function mutations in STAT1, Satoshi Okada, Infectious Diseases Society of Taiwan (Cross talk between infection and immune system), 2019/10/05, With Invitation, English, Taipei
  3. HSCT in Patients with STAT1 Gain-of-function Mutation, Satoshi Okada, 2018 the Korean Society of Pediatric Hematology-Oncology Autumn Meeting, 2018/10/19, With Invitation, English
  4. STAT1 gain of function etiology, molecular biology, and treatment, Satoshi Okada, The 2nd APSID Scientific Congress, 2018/05/07, With Invitation, English
  5. Primary immunodeficiency associate with functional defect of RORgammaT, Satoshi Okada, Janet Markle, Anne Puel, Masao Kobayashi, Jean-Laurent Casanova, The 39th Annual Meeting of the Molecular Biology, 2016/12/01, With Invitation, English, Yokohama
  6. International survey of clinical manifestations of patients with STAT1 gain-of-function mutations, Satoshi Okada, Miyuki Tsumura, Shiho Nishimura, Sonoko Sakata, Reiko Kagawa, Julie Toubiana, Anne Puel, Jean-Laurent Casanova, Masao Kobayashi, The 78th annual meeting of the Japanese Society of Hematology, 2016/10/13, Without Invitation, Japanese, Yokohama
  7. Primary immunodeficiencies associated with germline STAT1 mutations, Satoshi Okada, Wright-Fleming Institute Infection and Immunity Seminar, 2016/09/27, With Invitation, English, Imperial University, London
  8. Alanine-scanning mutagenesis of human STAT1 to estimate the loss- or gain-of-function nature of variants, Satoshi Okada, Ryoji Fujiki, Reiko Kagawa, Miyuki Tsumura, Xiaofei Kong, Sonoko Sakata, Shiho Nishimura, Zenichiro Kato, Hidenori Ohnishi, Yuval Itan, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Jean-Laurent Casanova, Osamu Ohara, and Masao Kobayashi, 17th Biennial Meeting of the European Sciety for immunodeficiencies, 2016/09/22, Without Invitation, English, Barcelona
  9. International survey of clinical manifestation of patients with gain-of-function mutations in STAT1, Satoshi Okada, Miyuki Tsumura, Shiho Nishimura, Sonoko Sakata, Julie Toubiana, Anne Puel, Jean-Laurent Casanova, Masao Kobayashi, The 44th annual meeting for the Japan Society for Clinical Immunology, 2016/09/09, Without Invitation, Japanese, Tokyo
  10. Loss-of-function and dominant negative STAT1 coiled-coil domain mutations in MSMD, Satoshi Okada, Reiko Kagawa, Ryoji Fujiki, Zenichiro Kato, Hidenori Ohnishi, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Jean-Laurent Casanova, Osamu Ohara, and Masao Kobayashi, Congress of Asia Pacific Society for Immunodeficiencies, 2016/04/30, Without Invitation, English, Hong Kong
  11. Impairment of IL-17 Immunity to Candida and IFN-γ Immunity to Mycobacterium in Humans with Bi-Allelic RORC mutations, Satoshi Okada, Janet Markle, Masao Kobayashi, Jacinta Bustamante and Jean-Laurent Casanova, The 57th ASH Annual Meeting, 2015/12/06, Without Invitation, English
  12. Impairment of IL-17 immunity to Candida and IFN-γ immunity to Mycobacterium in humans with inherited RORγT deficiency, Satoshi Okada, Janet Markle, Anne Puel, Jacinta Bustamante, Masao Kobayashi, and Jean-Laurent Casanova, The 44th Annual Meeting of the Japanese Society for Immunology, 2015/11/18, Without Invitation, English
  13. Chronic Mucocutaneous Candidiasis, Satoshi Okada, Pediatric Academic Societies annual meeting 2015, 2015/04/26, With Invitation, English
  14. Gain-of-function mutations in STAT1 underlie autosomal dominant chronic mucocutaneous candidiasis, Satoshi Okada, Xiao-Fei Kong, Sophie Cypowyj, Alexandra Y. Kreins, Luyan Liu, Laurent Abel, Capucine Picard, Stéphanie Boisson-Dupuis, Anne Puel and Jean-Laurent Casanova, 15th Biennial Meeting (ESID 2012), 2012/10/04, Without Invitation, English
  15. Gain-of-function mutation in STAT1 causes chronic mucocutaneous candidiasis (CMC), Satoshi Okada, Masao Kobayashi, Luyan Liu, Xiao-Fei Kong, Alexandra Y. Kreins, Sophie Cypowyj, Laurent Abel, Capucine Picard, Stéphanie Boisson-Dupuis, Anne Puel, Jean-Laurent Casanova, The 5th Meeting of the Japanese Society for Immunodeficiencies, 2012/01/21, Without Invitation, English
  16. Novel Dominant Negative Defects Affecting STAT1-SH2 Domain Predispose to Mycobacterial Diseases, Satoshi Okada, Miyuki Tsumura, Hidemasa Sakai, Ryuta Nishikomori, Toshio Heike, Tatsutoshi Nakahata, Shin’ichiro Yasunaga, Xiaofei Kong, Avinash Abhyankar, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Yoshihiro Takihara, and Masao Kobayashi, 2011 PAS/ASPR Joint Meeting, 2011/04/30, Without Invitation, English, Denver
  17. Novel Dominant Negative Defects Affecting STAT1-SH2 Domain Predispose to Mycobacterial Diseases, 2011/04/30, Without Invitation, English
  18. A novel heterozygous mutation, K673R, in SH2 domain of STAT identified in a patient with MSMD., Satoshi Okada, Miyuki Tsumura, Hidemasa Sakai, Ryuta Nishikomori, Shin’ichiro Yasunaga, Motoaki Ohtsubo, Takuji Murata, Hideto Obata, Takahiro Yasumi, Toshio Heike, Tatsutoshi Nakahata, Yoshihiro Takihara, Jean-Laurent Casanova and Masao Kobayashi, First North American Primary Immune Deficiency National Conference, 2010/05/21, Without Invitation, English, Philadelphia