Last Updated :2023/06/01

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. 2023, Undergraduate Education, First Semester, Human genetics
  2. 2023, Undergraduate Education, Year, Systemic Disease Control
  3. 2023, Undergraduate Education, Intensive, Practice for medical research
  4. 2023, Undergraduate Education, Intensive, Practice of Medicine I
  5. 2023, Undergraduate Education, Intensive, Practice of Medicine II
  6. 2023, Graduate Education (Master's Program) , First Semester, Seminar
  7. 2023, Graduate Education (Master's Program) , Second Semester, Seminar
  8. 2023, Graduate Education (Master's Program) , First Semester, Research
  9. 2023, Graduate Education (Master's Program) , Second Semester, Research
  10. 2023, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar on Pediatrics
  11. 2023, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar on Pediatrics
  12. 2023, Graduate Education (Doctoral Program) , First Semester, Advanced Research on Pediatrics
  13. 2023, Graduate Education (Doctoral Program) , Second Semester, Advanced Research on Pediatrics
  14. 2023, Graduate Education (Master's Program) , First Semester, Basic Human Genetics Practice
  15. 2023, Graduate Education (Master's Program) , First Semester, Genetic services informatics, Practice
  16. 2023, Graduate Education (Master's Program) , First Semester, Research on Genetic Counseling
  17. 2023, Graduate Education (Master's Program) , Second Semester, Research on Genetic Counseling
  18. 2023, Graduate Education (Doctoral Program) , 2Term, Trends of Genome Editing in Medical Science

Research Activities

Academic Papers

  1. Therapeutic options for CTLA-4 insufficiency, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 149(2), 736-746, 202202
  2. Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-gamma, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 149(1), 252-+, 202201
  3. A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection, NATURE IMMUNOLOGY, 23(2), 159-164, 202202
  4. ★, 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
  5. ★, Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation, SCIENCE ADVANCES, 7(4), eabe2116-eabe2116, 202101
  6. ★, Inborn errors of STAT1 immunity, Current Opinion in Immunology, 72, 59-64, 20211001
  7. ★, A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS, NATURE IMMUNOLOGY, 22(7), 893-903, 202107
  8. ★, 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
  9. ★, The expansion of human T-bet(high)CD21(low) B cells is T cell dependent, SCIENCE IMMUNOLOGY, 6(64), eabh0891-eabh0891, 202110
  10. Heterozygous missense variant of the proteasome subunit beta-type 9 causes neonatal-onset autoinflammation and immunodeficiency, NATURE COMMUNICATIONS, 12(1), 6819-6819, 20211124
  11. ★, 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
  12. ★, A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection, Cell, 181(6), 1194-1199, 20200611
  13. ★, APRIL-dependent lifelong plasmacyte maintenance and immunoglobulin production in humans, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 146(5), 1109-1120, 202011
  14. ★, 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
  15. ★, Autoantibodies against type I IFNs in patients with life-threatening COVID-19, Science, 370(6515), eabd4585-eabd4585, 20201023
  16. ★, Inborn errors of type I IFN immunity in patients with life-threatening COVID-19, Science, 370(6515), eabd4570-eabd4570, 20201023
  17. ★, Germline-Activating RRAS2 Mutations Cause Noonan Syndrome, American Journal of Human Genetics, 104(6), 1233-1240, 20190606
  18. Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects, Journal of Allergy and Clinical Immunology, 142(6), 1932-1946, 20181201
  19. ★, Gain-of-function IKBKB mutation causes human combined immune deficiency, Journal of Experimental Medicine, 215(11), 2715-2724, 20181101
  20. ★, Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection, Cell, 172(5), 952-965.e18, 20180222
  21. ★, 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
  22. Human IFN- immunity to mycobacteria is governed by both IL-12 and IL-23, Science Immunology, 3(30), 20180101
  23. ★, 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
  24. ★, Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations, Journal of Allergy and Clinical Immunology, 140(1), 223-231, 20170701
  25. ★, 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
  26. 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
  27. ★, Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype, Blood, 127(25), 3154-3164, 20160623
  28. 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
  29. 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
  30. ★, Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome, Journal of Experimental Medicine, 212(10), 1641-1662, 20150921
  31. ★, Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations, Science, 349(6248), 606-613, 20150807
  32. ★, Inherited DOCK2 deficiency in patients with early-onset invasive infections, New England Journal of Medicine, 372(25), 2409-2422, 20150618
  33. ★, Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency, Science, 348(6233), 448-453, 20150424
  34. ★, Human intracellular ISG15 prevents interferon-a/b over-amplification and auto-inflammation, Nature, 517(7532), 89-93, 20150101
  35. 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
  36. Partial IFN-gR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation, Blood, 122(14), 2390-2401, 20130101
  37. ★, Mycobacterial disease and impaired IFN-g immunity in humans with inherited ISG15 deficiency, Science, 337(6102), 1684-1688, 20120928
  38. Inborn errors of human STAT1: Allelic heterogeneity governs the diversity of immunological and infectious phenotypes, Current Opinion in Immunology, 24(4), 364-378, 20120801
  39. Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency, Blood, 119(23), 5458-5466, 20120607
  40. DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice, Journal of Experimental Medicine, 208(11), 2305-2320, 20111024
  41. ★, Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis, Journal of Experimental Medicine, 208(18), 1635-1648, 20110801
  42. 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
  43. ★, 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
  44. ★, 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
  45. 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
  46. Early diagnosis of partial interferon-gamma receptor 1 deficiency prevents the development of Bacille de Calmette et Guerin osteomyelitis, CLINICAL IMMUNOLOGY, 235, 202202
  47. Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms, JOURNAL OF HUMAN GENETICS, 67(3), 157-164, 202203
  48. Clinical impact of the dose and blood concentration of lacosamide in Japanese pediatric patients with epilepsy: A cohort study, EPILEPSY & BEHAVIOR, 129, 202204
  49. 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
  50. 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
  51. 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
  52. ★, 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
  53. IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation, JOURNAL OF CLINICAL IMMUNOLOGY, 41(1), 125-135, 202101
  54. 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
  55. Functional analysis of novel A20 variants in patients with atypical inflammatory diseases, ARTHRITIS RESEARCH & THERAPY, 23(1), 52-52, 20211206
  56. A Novel Homozygous Mutation Destabilizes IKK beta and Leads to Human Combined Immunodeficiency, FRONTIERS IN IMMUNOLOGY, 11, 517544-517544, 20210215
  57. T2-FLAIR Mismatch Sign and Response to Radiotherapy in Diffuse Intrinsic Pontine Glioma, PEDIATRIC NEUROSURGERY, 56(1), 1-9, 202103
  58. Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3, Journal of Clinical Immunology, 41(4), 780-790, 20210501
  59. 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
  60. Successful Hematopoietic Stem Cell Transplantation for Autosomal Recessive STAT1 Complete Deficiency, Journal of Clinical Immunology, 41(3), 684-687, 20210401
  61. 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
  62. Pneumococcal Serotype-specific Opsonophagocytic Activity in Interleukin-1 Receptor-associated Kinase 4-deficient Patients, Pediatric Infectious Disease Journal, 40(5), 460-463, 20210101
  63. Inhibition of HECT E3 ligases as potential therapy for COVID-19, CELL DEATH & DISEASE, 12(4), 310-310, 20210324
  64. Novel STAT-3 gain-of-function variant with hypogammaglobulinemia and recurrent infection phenotype, CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 205(3), 354-362, 202109
  65. 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
  66. 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
  67. NBS1 I171V variant underlies individual differences in chromosomal radiosensitivity within human populations, SCIENTIFIC REPORTS, 11(1), 19661-19661, 20211004
  68. Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency, JOURNAL OF IMMUNOLOGY, 207(1), 133-152, 20210701
  69. 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
  70. Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity, Journal of Clinical Immunology, 40(5), 729-740, 20200701
  71. Human gain-of-function stat1 mutation disturbs il-17 immunity in mice, International Immunology, 32(4), 259-272, 20200401
  72. 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
  73. 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
  74. 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
  75. 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
  76. Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation, FRONTIERS IN IMMUNOLOGY, 11, 557521-557521, 20200929
  77. 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
  78. Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations, INTERNATIONAL IMMUNOLOGY, 32(10), 663-671, 202010
  79. Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy, Journal of Clinical Immunology, 40(8), 1065-1081, 20201101
  80. 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
  81. Effects of perampanel add-on therapy on immunoglobulin levels in pediatric patients with epilepsy, Epilepsy Research, 167, 106447-106447, 202011
  82. Life-Threatening COVID-19: Defective Interferons Unleash Excessive Inflammation, Med (NY), 1(1), 14-20, 20201218
  83. Mendelian susceptibility to mycobacterial disease: 2014–2018 update, Immunology and Cell Biology, 97(4), 360-367, 20190401
  84. Dr. Maeshima, et al, reply, Journal of Rheumatology, 46(6), 655-656, 20190101
  85. Gain-of-function STAT1 mutation with familial lymphadenopathy and Hodgkin Lymphoma, Frontiers in Pediatrics, 7(APR), 20190101
  86. 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
  87. ★, Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency, JOURNAL OF CLINICAL INVESTIGATION, 129(2), 583-597, 20190201
  88. Increased risk for malignancies in 131 affected CTLA4 mutation carriers, Frontiers in Immunology, 9(SEP), 20180910
  89. Enhanced AKT phosphorylation of circulating B cells in patients with activated PI3Kdelta syndrome, Frontiers in Immunology, 9(APR), 20180405
  90. 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
  91. Flow cytometry-based diagnosis of primary immunodeficiency diseases, Allergology International, 67(1), 43-54, 20180101
  92. 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
  93. Significant augmentation of regulatory T cell numbers occurs during the early neonatal period, Clinical and Experimental Immunology, 190(2), 268-279, 20171101
  94. 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
  95. 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
  96. A case with Spondyloenchondrodysplasia treated with growth hormone, Frontiers in Endocrinology, 8(JUL), 20170710
  97. 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
  98. 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
  99. Adipsic hypernatremia without hypothalamic lesions accompanied by autoantibodies to subfornical organ, Brain Pathology, 27(3), 323-331, 20170501
  100. Molecular mechanism and structural basis of gain-offunction of STAT1 caused by pathogenic R274Q mutation, Journal of Biological Chemistry, 292(15), 6240-6254, 20170414
  101. Characteristic clinical features of adipsic hypernatremia patients with subfornical organ-targeting antibody, Clinical Pediatric Endocrinology, 26(4), 197-205, 20170101
  102. Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan, Clinical Pediatric Endocrinology, 26(4), 207-213, 20170101
  103. Screening of MCAD deficiency in Japan: 16 years' experience of enzymatic and genetic evaluation, Molecular Genetics and Metabolism, 119(4), 322-328, 20161201
  104. Non-androgen secreting adrenocortical carcinoma in preadolescence: A case report and literature review, Journal of Pediatric Endocrinology and Metabolism, 29(11), 1313-1317, 20161101
  105. A 2-year-old Japanese girl with TNF receptor–associated periodic syndrome: A case report of the youngest diagnosed proband in Japan, Modern Rheumatology, 26(5), 798-801, 20160902
  106. Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan, Molecular Genetics and Metabolism, 118(1), 9-14, 20160501
  107. A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer, Journal of Clinical Immunology, 36(1), 28-32, 20160101
  108. 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
  109. Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2, Clinical Pediatric Endocrinology, 24(3), 135-138, 20150718
  110. IL-17 T cells' defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation, Journal of Investigative Dermatology, 134(4), 1155-1157, 20140101
  111. Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis, Journal of Leukocyte Biology, 95(4), 667-676, 20140101
  112. Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis, Haematologica, 98(10), 1641-1649, 20131001
  113. Management of advanced-stage neuroblastoma in a patient with 21-hydroxalase deficiency, Pediatrics International, 55(4), 20130801
  114. New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe, Journal of Medical Genetics, 50(9), 567-578, 20130729
  115. Acute severe encephalopathy related to human herpesvirus-6 infection in a patient with carnitine palmitoyltransferase 2 deficiency carrying thermolabile variants, Brain and Development, 35(5), 449-453, 20130501
  116. A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease, PLoS ONE, 8(3), 20130305
  117. Identification of the integrin b3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis, British Journal of Haematology, 160(4), 521-529, 20130201
  118. Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease, Human Molecular Genetics, 22(4), 769-781, 20130201
  119. VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection, Pediatrics International, 55(6), 775-778, 20130101
  120. ★, Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease, Human Mutation, 33(9), 1377-1387, 20120901
  121. 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
  122. Disseminated BCG infection mimicking metastatic nasopharyngeal carcinoma in an immunodeficient child with a novel hypomorphic NEMO mutation, Journal of Clinical Immunology, 31(5), 802-810, 20111001
  123. Clinical and host genetic characteristics of mendelian susceptibility to mycobacterial diseases in Japan, Journal of Clinical Immunology, 31(3), 309-314, 20110601
  124. Empty sella/pituitary atrophy and endocrine impairments as a consequence of radiation and chemotherapy in long-term survivors of childhood leukemia., International journal of hematology, 94(4), 399-402, 20110101
  125. Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency, Human Genetics, 127(6), 619-628, 20100601
  126. Clinical characteristics of perinatal lethal hypophosphatasia: A report of 6 cases, Clinical Pediatric Endocrinology, 19(1), 7-13, 20100101
  127. Development of a new enzymatic diagnosis method for very-long-chain acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan, Pediatric Research, 64(6), 667-672, 20081201
  128. ★, Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene, Journal of Medical Genetics, 45(12), 802-807, 20081201
  129. ★, The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-g receptor 1 and has a dominant-negative effect on interferon-g signal transduction, Journal of Medical Genetics, 44(8), 485-491, 20070801
  130. A novel mutation (Gln433Glu) in exon 12 combined with the G insertion in exon 13 causes severe factor XI deficiency in Japanese patients, Blood Coagulation and Fibrinolysis, 18(5), 519-523, 20070701
  131. 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, 20070401
  132. Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency., Haematologica, 92(12), 20070101
  133. A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia, Haematologica, 90(8), 1032-1041, 20050801

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