Last Updated :2021/04/05

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

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

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
  • 【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

  • MSMD
  • neutropenia
  • immunodeficiency

Affiliated Academic Societies

  • 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. 2021, Undergraduate Education, First Semester, Human genetics
  2. 2021, Undergraduate Education, Year, Systemic Disease Control
  3. 2021, Undergraduate Education, Intensive, Symptomatology, Diagnosis and Treatment
  4. 2021, Graduate Education (Master's Program) , First Semester, Seminar
  5. 2021, Graduate Education (Doctoral Program) , First Semester, Advanced research on Pediatrics
  6. 2021, Graduate Education (Doctoral Program) , Second Semester, Advanced research on Pediatrics
  7. 2021, Graduate Education (Master's Program) , Second Semester, Seminar
  8. 2021, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar on Pediatrics
  9. 2021, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar on Pediatrics
  10. 2021, Graduate Education (Doctoral Program) , First Semester, Advanced Research on Pediatrics
  11. 2021, Graduate Education (Doctoral Program) , Second Semester, Advanced Research on Pediatrics
  12. 2021, Graduate Education (Master's Program) , Second Semester, Genetic services informatics, Practice
  13. 2021, Graduate Education (Master's Program) , First Semester, Research on Genetic Counseling
  14. 2021, Graduate Education (Master's Program) , Second Semester, Research on Genetic Counseling
  15. 2021, Graduate Education (Doctoral Program) , 2Term, Trends of Genome Editing in Medical Science

Research Activities

Academic Papers

  1. 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
  2. Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity, Journal of Clinical Immunology, 40(5), 729-740, 20200701
  3. ★, A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection, Cell, 181(6), 1194-1199, 20200611
  4. Human gain-of-function stat1 mutation disturbs il-17 immunity in mice, International Immunology, 32(4), 259-272, 20200401
  5. 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), 20200201
  6. ★, Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy, Journal of Clinical Immunology, 20200101
  7. 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), 20200101
  8. 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), 20200101
  9. 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
  10. 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, 20200101
  11. Germline-Activating RRAS2 Mutations Cause Noonan Syndrome, American Journal of Human Genetics, 104(6), 1233-1240, 20190606
  12. 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
  13. Mendelian susceptibility to mycobacterial disease: 2014–2018 update, Immunology and Cell Biology, 97(4), 360-367, 20190401
  14. Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency, JOURNAL OF CLINICAL INVESTIGATION, 129(2), 583-597, 20190201
  15. Dr. Maeshima, et al, reply, Journal of Rheumatology, 46(6), 655-656, 20190101
  16. Gain-of-function STAT1 mutation with familial lymphadenopathy and Hodgkin Lymphoma, Frontiers in Pediatrics, 7(APR), 20190101
  17. Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects, Journal of Allergy and Clinical Immunology, 142(6), 1932-1946, 20181201
  18. Gain-of-function IKBKB mutation causes human combined immune deficiency, Journal of Experimental Medicine, 215(11), 2715-2724, 20181101
  19. Increased risk for malignancies in 131 affected CTLA4 mutation carriers, Frontiers in Immunology, 9(SEP), 20180910
  20. Enhanced AKT phosphorylation of circulating B cells in patients with activated PI3Kdelta syndrome, Frontiers in Immunology, 9(APR), 20180405
  21. 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
  22. ★, Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection, Cell, 172(5), 952-965.e18, 20180222
  23. ★, 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
  24. Flow cytometry-based diagnosis of primary immunodeficiency diseases, Allergology International, 67(1), 43-54, 20180101
  25. Human IFN- immunity to mycobacteria is governed by both IL-12 and IL-23, Science Immunology, 3(30), 20180101
  26. 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
  27. Significant augmentation of regulatory T cell numbers occurs during the early neonatal period, Clinical and Experimental Immunology, 190(2), 268-279, 20171101
  28. 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
  29. 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
  30. A case with Spondyloenchondrodysplasia treated with growth hormone, Frontiers in Endocrinology, 8(JUL), 20170710
  31. 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
  32. ★, 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
  33. ★, Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations, Journal of Allergy and Clinical Immunology, 140(1), 223-231, 20170701
  34. 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
  35. Adipsic hypernatremia without hypothalamic lesions accompanied by autoantibodies to subfornical organ, Brain Pathology, 27(3), 323-331, 20170501
  36. Molecular mechanism and structural basis of gain-offunction of STAT1 caused by pathogenic R274Q mutation, Journal of Biological Chemistry, 292(15), 6240-6254, 20170414
  37. Characteristic clinical features of adipsic hypernatremia patients with subfornical organ-targeting antibody, Clinical Pediatric Endocrinology, 26(4), 197-205, 20170101
  38. Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan, Clinical Pediatric Endocrinology, 26(4), 207-213, 20170101
  39. 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
  40. Screening of MCAD deficiency in Japan: 16 years' experience of enzymatic and genetic evaluation, Molecular Genetics and Metabolism, 119(4), 322-328, 20161201
  41. 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
  42. Non-androgen secreting adrenocortical carcinoma in preadolescence: A case report and literature review, Journal of Pediatric Endocrinology and Metabolism, 29(11), 1313-1317, 20161101
  43. 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
  44. Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets, Journal of Experimental Medicine, 213(8), 1589-1608, 20160725
  45. ★, Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype, Blood, 127(25), 3154-3164, 20160623
  46. Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan, Molecular Genetics and Metabolism, 118(1), 9-14, 20160501
  47. 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
  48. A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer, Journal of Clinical Immunology, 36(1), 28-32, 20160101
  49. 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
  50. ★, Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome, Journal of Experimental Medicine, 212(10), 1641-1662, 20150921
  51. ★, Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations, Science, 349(6248), 606-613, 20150807
  52. 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
  53. Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2, Clinical Pediatric Endocrinology, 24(3), 135-138, 20150718
  54. ★, Inherited DOCK2 deficiency in patients with early-onset invasive infections, New England Journal of Medicine, 372(25), 2409-2422, 20150618
  55. ★, Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency, Science, 348(6233), 448-453, 20150424
  56. ★, Human intracellular ISG15 prevents interferon-a/b over-amplification and auto-inflammation, Nature, 517(7532), 89-93, 20150101
  57. 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
  58. Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis, Journal of Leukocyte Biology, 95(4), 667-676, 20140101
  59. Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis, Haematologica, 98(10), 1641-1649, 20131001
  60. Management of advanced-stage neuroblastoma in a patient with 21-hydroxalase deficiency, Pediatrics International, 55(4), 20130801
  61. 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
  62. 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
  63. 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
  64. A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease, PLoS ONE, 8(3), 20130305
  65. 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
  66. Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease, Human Molecular Genetics, 22(4), 769-781, 20130201
  67. 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
  68. Partial IFN-gR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation, Blood, 122(14), 2390-2401, 20130101
  69. ★, Mycobacterial disease and impaired IFN-g immunity in humans with inherited ISG15 deficiency, Science, 337(6102), 1684-1688, 20120928
  70. ★, Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease, Human Mutation, 33(9), 1377-1387, 20120901
  71. Inborn errors of human STAT1: Allelic heterogeneity governs the diversity of immunological and infectious phenotypes, Current Opinion in Immunology, 24(4), 364-378, 20120801
  72. Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency, Blood, 119(23), 5458-5466, 20120607
  73. DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice, Journal of Experimental Medicine, 208(11), 2305-2320, 20111024
  74. 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
  75. 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
  76. ★, Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis, Journal of Experimental Medicine, 208(18), 1635-1648, 20110801
  77. Clinical and host genetic characteristics of mendelian susceptibility to mycobacterial diseases in Japan, Journal of Clinical Immunology, 31(3), 309-314, 20110601
  78. 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
  79. 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
  80. 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
  81. 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
  82. Clinical characteristics of perinatal lethal hypophosphatasia: A report of 6 cases, Clinical Pediatric Endocrinology, 19(1), 7-13, 20100101
  83. 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
  84. ★, 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
  85. 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
  86. ★, 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
  87. 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
  88. 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
  89. Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency., Haematologica, 92(12), 20070101
  90. 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. 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
  2. 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
  3. STAT1 gain of function etiology, molecular biology, and treatment, Satoshi Okada, The 2nd APSID Scientific Congress, 2018/05/07, With Invitation, English
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. Chronic Mucocutaneous Candidiasis, Satoshi Okada, Pediatric Academic Societies annual meeting 2015, 2015/04/26, With Invitation, English
  13. 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
  14. 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
  15. 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
  16. Novel Dominant Negative Defects Affecting STAT1-SH2 Domain Predispose to Mycobacterial Diseases, 2011/04/30, Without Invitation, English
  17. 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

External Funds

Acceptance Results of Competitive Funds

  1. 2018, 2020
  2. Practical Research Project for Rare/Intractable Diseases (AMED), Genome editing based allele labeling of ELANE to analyze molecular pathogenesis of severe congenital neutropenia, 2017, 2020
  3. Practical Research Project for Rare/Intractable Diseases (AMED), Identification of new responsible genes for primary immunodeficiency, 2016, 2019
  4. KAKENHI, 2016, 2019
  5. KAKENHI, Analysis of disseminated BCG associated with RORgT deficiency, 2016, 2018
  6. KAKENHI, Establishment of disease model mouse of chronic mucocutaneous candidiasis, 2013, 2015
  7. KAKENHI, Identification of novel responsible genes for chronic mucocutaneous candidiasis, 2013, 2016
  8. KAKENHI, Analysis of Primary Immunodeficiency Syndromes using model mice., 2008, 2010