SATOSHI OKADA
Last Updated :2024/10/02
- Affiliations, Positions
- Graduate School of Biomedical and Health Sciences(Medicine), Professor
- E-mail
- sokadahiroshima-u.ac.jp
- Self-introduction
- 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
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
- 2024, Undergraduate Education, First Semester, Human genetics
- 2024, Undergraduate Education, Year, Systemic Disease Control
- 2024, Undergraduate Education, Intensive, Practice for medical research
- 2024, Undergraduate Education, Intensive, Practice of Medicine I
- 2024, Undergraduate Education, Intensive, Practice of Medicine II
- 2024, Graduate Education (Master's Program) , First Semester, Seminar
- 2024, Graduate Education (Master's Program) , Second Semester, Seminar
- 2024, Graduate Education (Master's Program) , First Semester, Research
- 2024, Graduate Education (Master's Program) , Second Semester, Research
- 2024, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar on Pediatrics
- 2024, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar on Pediatrics
- 2024, Graduate Education (Doctoral Program) , First Semester, Advanced Research on Pediatrics
- 2024, Graduate Education (Doctoral Program) , Second Semester, Advanced Research on Pediatrics
- 2024, Graduate Education (Master's Program) , First Semester, Basic Human Genetics Practice
- 2024, Graduate Education (Master's Program) , First Semester, Genetic services informatics, Practice
- 2024, Graduate Education (Master's Program) , First Semester, Research on Genetic Counseling
- 2024, Graduate Education (Master's Program) , Second Semester, Research on Genetic Counseling
- 2024, Graduate Education (Doctoral Program) , 2Term, Trends of Genome Editing in Medical Science
Research Activities
Academic Papers
- Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC, Journal of Clinical Immunology, 44(1), 18, 20231222
- Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function, JOURNAL OF CLINICAL IMMUNOLOGY, 44(1), 20, 20231222
- 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
- Interfering with Interferons: A Critical Mechanism for Critical COVID-19 Pneumonia, ANNUAL REVIEW OF IMMUNOLOGY, 41, 561-585, 202304
- Bacille Calmette-Guérin Vaccine-Induced Tuberculous Elbow Osteomyelitis in an Infant: A Case Report., JBJS Case Connector, 13(3), 202308
- Lethal Interstitial Lung Disease Associated with a Gain-of-Function Mutation in IFIH1, Journal of Clinical Immunology, 43(6), 1143-1146, 202308
- Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia., Journal of Experimental Medicine, 220(5), e20220170, 202405
- 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
- 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
- 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
- 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
- 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
- Autoantibodies against type I IFNs in humans with alternative NF-kB pathway deficiency, NATURE, 623(7988), 803-813, 20231123
- Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children, SCIENCE, 379(6632), 554-+, 20230210
- 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
- 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
- Achaete-scute family bHLH transcription factor 2 activation promotes hepatoblastoma progression, CANCER SCIENCE, 115(3), 847-858, 202403
- 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
- 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
- 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
- Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency, PEDIATRIC ALLERGY AND IMMUNOLOGY, 35(2), 202402
- 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
- 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
- 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
- Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function, IMMUNOTHERAPY ADVANCES, 3(1), 20230101
- Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function, JOURNAL OF CLINICAL IMMUNOLOGY, 44(1), 202401
- Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC, JOURNAL OF CLINICAL IMMUNOLOGY, 44(1), 202401
- 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
- Patient-reported outcomes in patients with primary immunodeficiency diseases in Japan: baseline results from a prospective observational study, FRONTIERS IN IMMUNOLOGY, 14, 1244250, 20230927
- Clinical significance of human neutrophil antigen-1 antibodies in children with neutropenia, INTERNATIONAL JOURNAL OF HEMATOLOGY, 118(5), 627-635, 202311
- A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis, PNAS NEXUS, 2(4), pgad104, 20230403
- 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
- ★, Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity, JOURNAL OF EXPERIMENTAL MEDICINE, 220(9), e20212276, 20230605
- Human IL-23 is essential for IFN-y-dependent immunity to mycobacteria, SCIENCE IMMUNOLOGY, 8(80), eabq5204, 202302
- Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3K delta syndrome 2, JOURNAL OF EXPERIMENTAL MEDICINE, 220(6), e20221020, 20230321
- Pirarubicin Combination Low-Dose Chemotherapy for Early Infantile Stage MS Neuroblastoma: Case Report, CHILDREN-BASEL, 10(5), 871, 20230512
- Influence of growth hormone therapy on germinoma survivors., Pituitary, 25(6), 854-860, 202212
- Autoantibodies against type I IFNs in patients with critical influenza pneumonia, Journal of Experimental Medicine, 219(11), e20220514-e20220514, 202211
- Myocarditis in 13-year-old monochorionic diamniotic twins after COVID-19 vaccination, Journal of Clinical Immunology, 42(7), 1351-1353, 202210
- Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis., Journal of Clinical Immunology, 42(7), 1354-1359, 202210
- Anti-integrin alpha v beta 6 antibody as a diagnostic marker for pediatric patients with ulcerative colitis., Gastroenterology, 163(4), 1094-1097, 202210
- 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
- Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia., Journal of Experimental Medicine, 219(8), e20220131-e20220131, 202208
- Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs, Science Immunology, 7(73), eabp8966-eabp8966, 202208
- Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency., Journal of Experimental Medicine, 219(7), e20220202-e20220202, 202207
- 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
- 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
- Studying severe long COVID to understand post-infectious disorders beyond COVID-19., Nature Medicine, 28(5), 879-882, 202205
- 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
- Human genetic and immunological determinants of critical COVID-19 pneumonia, Nature, 603(7902), 587-598, 202203
- Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms, Journal of Human Genetics, 67(3), 157-164, 202203
- 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
- Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1, CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 212(2), 96-106, 20230425
- Structural basis of spike RBM-specific human antibodies counteracting broad SARS-CoV-2 variants, COMMUNICATIONS BIOLOGY, 6(1), 395, 20230411
- Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality, FRONTIERS IN IMMUNOLOGY, 14, 1121059, 20230418
- Effect of Lacosamide therapy on blood cells and IgA levels in children and adolescents with epilepsy in a clinical setting, EPILEPSY RESEARCH, 187, 202211
- Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases, JOURNAL OF CLINICAL IMMUNOLOGY, 43(2), 466-478, 202302
- Evaluation of cerebrospinal fluid biomarkers in pediatric patients with spinal muscular atrophy, BRAIN & DEVELOPMENT, 45(1), 2-7, 202201
- Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-19, JOURNAL OF CLINICAL IMMUNOLOGY, 42(7), 1360-1370, 202210
- ★, Mendelian susceptibility to mycobacterial diseases: state of the art, CLINICAL MICROBIOLOGY AND INFECTION, 28(11), 1429-1434, 202211
- Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience, FRONTIERS IN IMMUNOLOGY, 13, 20220923
- 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
- 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
- Concomitant Cytotoxic Effector Differentiation of CD4(+) and CD8(+) T Cells in Response to EBV-Infected B Cells, CANCERS, 14(17), 4118-4118, 202209
- Human T-bet governs the generation of a distinct subset of CD11c(high)CD21(low) B cells, SCIENCE IMMUNOLOGY, 7(73), eabq3277-eabq3277, 202207
- Therapeutic options for CTLA-4 insufficiency, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 149(2), 736-746, 202202
- ★, Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-gamma, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 149(1), 252-261, 202201
- A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection, NATURE IMMUNOLOGY, 23(2), 159-164, 202202
- ★, 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
- ★, Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation, SCIENCE ADVANCES, 7(4), eabe2116-eabe2116, 202101
- ★, Inborn errors of STAT1 immunity, Current Opinion in Immunology, 72, 59-64, 20211001
- ★, A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS, NATURE IMMUNOLOGY, 22(7), 893-903, 202107
- ★, 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
- ★, The expansion of human T-bet(high)CD21(low) B cells is T cell dependent, SCIENCE IMMUNOLOGY, 6(64), eabh0891-eabh0891, 202110
- Heterozygous missense variant of the proteasome subunit beta-type 9 causes neonatal-onset autoinflammation and immunodeficiency, NATURE COMMUNICATIONS, 12(1), 6819-6819, 20211124
- ★, 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
- ★, A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection, Cell, 181(6), 1194-1199, 20200611
- ★, APRIL-dependent lifelong plasmacyte maintenance and immunoglobulin production in humans, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 146(5), 1109-1120, 202011
- ★, 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
- ★, Autoantibodies against type I IFNs in patients with life-threatening COVID-19, Science, 370(6515), eabd4585-eabd4585, 20201023
- ★, Inborn errors of type I IFN immunity in patients with life-threatening COVID-19, Science, 370(6515), eabd4570-eabd4570, 20201023
- ★, Germline-Activating RRAS2 Mutations Cause Noonan Syndrome, American Journal of Human Genetics, 104(6), 1233-1240, 20190606
- Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects, Journal of Allergy and Clinical Immunology, 142(6), 1932-1946, 20181201
- ★, Gain-of-function IKBKB mutation causes human combined immune deficiency, Journal of Experimental Medicine, 215(11), 2715-2724, 20181101
- ★, Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection, Cell, 172(5), 952-965.e18, 20180222
- ★, 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
- Human IFN- immunity to mycobacteria is governed by both IL-12 and IL-23, Science Immunology, 3(30), 20180101
- ★, 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
- ★, Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations, Journal of Allergy and Clinical Immunology, 140(1), 223-231, 20170701
- ★, 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
- 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
- ★, Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype, Blood, 127(25), 3154-3164, 20160623
- 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
- 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
- ★, Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome, Journal of Experimental Medicine, 212(10), 1641-1662, 20150921
- ★, Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations, Science, 349(6248), 606-613, 20150807
- ★, Inherited DOCK2 deficiency in patients with early-onset invasive infections, New England Journal of Medicine, 372(25), 2409-2422, 20150618
- ★, Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency, Science, 348(6233), 448-453, 20150424
- ★, Human intracellular ISG15 prevents interferon-a/b over-amplification and auto-inflammation, Nature, 517(7532), 89-93, 20150101
- 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
- Partial IFN-gR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation, Blood, 122(14), 2390-2401, 20130101
- ★, Mycobacterial disease and impaired IFN-g immunity in humans with inherited ISG15 deficiency, Science, 337(6102), 1684-1688, 20120928
- Inborn errors of human STAT1: Allelic heterogeneity governs the diversity of immunological and infectious phenotypes, Current Opinion in Immunology, 24(4), 364-378, 20120801
- Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency, Blood, 119(23), 5458-5466, 20120607
- DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice, Journal of Experimental Medicine, 208(11), 2305-2320, 20111024
- ★, Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis, Journal of Experimental Medicine, 208(18), 1635-1648, 20110801
- 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
- ★, 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
- ★, 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
- 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
- Early diagnosis of partial interferon-gamma receptor 1 deficiency prevents the development of Bacille de Calmette et Guerin osteomyelitis, CLINICAL IMMUNOLOGY, 235, 202202
- Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms, JOURNAL OF HUMAN GENETICS, 67(3), 157-164, 202203
- 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
- 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
- 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
- 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
- ★, 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
- IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation, JOURNAL OF CLINICAL IMMUNOLOGY, 41(1), 125-135, 202101
- 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
- Functional analysis of novel A20 variants in patients with atypical inflammatory diseases, ARTHRITIS RESEARCH & THERAPY, 23(1), 52-52, 20211206
- A Novel Homozygous Mutation Destabilizes IKK beta and Leads to Human Combined Immunodeficiency, FRONTIERS IN IMMUNOLOGY, 11, 517544-517544, 20210215
- T2-FLAIR Mismatch Sign and Response to Radiotherapy in Diffuse Intrinsic Pontine Glioma, PEDIATRIC NEUROSURGERY, 56(1), 1-9, 202103
- Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3, Journal of Clinical Immunology, 41(4), 780-790, 20210501
- 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
- Successful Hematopoietic Stem Cell Transplantation for Autosomal Recessive STAT1 Complete Deficiency, Journal of Clinical Immunology, 41(3), 684-687, 20210401
- 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
- Pneumococcal Serotype-specific Opsonophagocytic Activity in Interleukin-1 Receptor-associated Kinase 4-deficient Patients, Pediatric Infectious Disease Journal, 40(5), 460-463, 20210101
- Inhibition of HECT E3 ligases as potential therapy for COVID-19, CELL DEATH & DISEASE, 12(4), 310-310, 20210324
- Novel STAT-3 gain-of-function variant with hypogammaglobulinemia and recurrent infection phenotype, CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 205(3), 354-362, 202109
- 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
- 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
- NBS1 I171V variant underlies individual differences in chromosomal radiosensitivity within human populations, SCIENTIFIC REPORTS, 11(1), 19661-19661, 20211004
- Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency, JOURNAL OF IMMUNOLOGY, 207(1), 133-152, 20210701
- 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
- Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity, Journal of Clinical Immunology, 40(5), 729-740, 20200701
- Human gain-of-function stat1 mutation disturbs il-17 immunity in mice, International Immunology, 32(4), 259-272, 20200401
- 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
- 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
- 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
- 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
- Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation, FRONTIERS IN IMMUNOLOGY, 11, 557521-557521, 20200929
- 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
- Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations, INTERNATIONAL IMMUNOLOGY, 32(10), 663-671, 202010
- Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy, Journal of Clinical Immunology, 40(8), 1065-1081, 20201101
- 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
- Effects of perampanel add-on therapy on immunoglobulin levels in pediatric patients with epilepsy, Epilepsy Research, 167, 106447-106447, 202011
- Life-Threatening COVID-19: Defective Interferons Unleash Excessive Inflammation, Med (NY), 1(1), 14-20, 20201218
- Mendelian susceptibility to mycobacterial disease: 2014–2018 update, Immunology and Cell Biology, 97(4), 360-367, 20190401
- Dr. Maeshima, et al, reply, Journal of Rheumatology, 46(6), 655-656, 20190101
- Gain-of-function STAT1 mutation with familial lymphadenopathy and Hodgkin Lymphoma, Frontiers in Pediatrics, 7(APR), 20190101
- 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
- ★, Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency, JOURNAL OF CLINICAL INVESTIGATION, 129(2), 583-597, 20190201
- Increased risk for malignancies in 131 affected CTLA4 mutation carriers, Frontiers in Immunology, 9(SEP), 20180910
- Enhanced AKT phosphorylation of circulating B cells in patients with activated PI3Kdelta syndrome, Frontiers in Immunology, 9(APR), 20180405
- 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
- Flow cytometry-based diagnosis of primary immunodeficiency diseases, Allergology International, 67(1), 43-54, 20180101
- 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
- Significant augmentation of regulatory T cell numbers occurs during the early neonatal period, Clinical and Experimental Immunology, 190(2), 268-279, 20171101
- 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
- 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
- A case with Spondyloenchondrodysplasia treated with growth hormone, Frontiers in Endocrinology, 8(JUL), 20170710
- 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
- 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
- Adipsic hypernatremia without hypothalamic lesions accompanied by autoantibodies to subfornical organ, Brain Pathology, 27(3), 323-331, 20170501
- Molecular mechanism and structural basis of gain-offunction of STAT1 caused by pathogenic R274Q mutation, Journal of Biological Chemistry, 292(15), 6240-6254, 20170414
- Characteristic clinical features of adipsic hypernatremia patients with subfornical organ-targeting antibody, Clinical Pediatric Endocrinology, 26(4), 197-205, 20170101
- Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan, Clinical Pediatric Endocrinology, 26(4), 207-213, 20170101
- Screening of MCAD deficiency in Japan: 16 years' experience of enzymatic and genetic evaluation, Molecular Genetics and Metabolism, 119(4), 322-328, 20161201
- Non-androgen secreting adrenocortical carcinoma in preadolescence: A case report and literature review, Journal of Pediatric Endocrinology and Metabolism, 29(11), 1313-1317, 20161101
- 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
- Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan, Molecular Genetics and Metabolism, 118(1), 9-14, 20160501
- A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer, Journal of Clinical Immunology, 36(1), 28-32, 20160101
- 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
- Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2, Clinical Pediatric Endocrinology, 24(3), 135-138, 20150718
- 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
- Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis, Journal of Leukocyte Biology, 95(4), 667-676, 20140101
- Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis, Haematologica, 98(10), 1641-1649, 20131001
- Management of advanced-stage neuroblastoma in a patient with 21-hydroxalase deficiency, Pediatrics International, 55(4), 20130801
- 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
- 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
- A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease, PLoS ONE, 8(3), 20130305
- 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
- Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease, Human Molecular Genetics, 22(4), 769-781, 20130201
- 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
- ★, Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease, Human Mutation, 33(9), 1377-1387, 20120901
- 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
- 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
- Clinical and host genetic characteristics of mendelian susceptibility to mycobacterial diseases in Japan, Journal of Clinical Immunology, 31(3), 309-314, 20110601
- 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
- 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
- Clinical characteristics of perinatal lethal hypophosphatasia: A report of 6 cases, Clinical Pediatric Endocrinology, 19(1), 7-13, 20100101
- 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
- ★, 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
- ★, 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
- 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
- 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
- Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency., Haematologica, 92(12), 20070101
- 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
- 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
- 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
- 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
- STAT1 gain of function etiology, molecular biology, and treatment, Satoshi Okada, The 2nd APSID Scientific Congress, 2018/05/07, With Invitation, English
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- Chronic Mucocutaneous Candidiasis, Satoshi Okada, Pediatric Academic Societies annual meeting 2015, 2015/04/26, With Invitation, English
- 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
- 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
- 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
- Novel Dominant Negative Defects Affecting STAT1-SH2 Domain Predispose to Mycobacterial Diseases, 2011/04/30, Without Invitation, English
- 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