広島大学

Basic Information

Academic Degrees

• Hiroshima University
• Gifu University

Research Keywords

• Autoinflammatory disease
• CMC: Chronic Mucocutaneous Candidiasis
• MSMD; Mendelian Susceptibility to Mycobacterial Disease
• Inborn errors of immunity

Affiliated Academic Societies

• The Japanese Society of Pediatric Hematology/Oncology
• The Japanese Society of Hematology
• Japan College of Rheumatology
• Japanese Society for Immunodeficiency and Autoinflammatory Diseases (JSIAD)
• JAPAN PEDIATRIC SOCIETY
• European Society for Immunodeficiencies (ESID)

Research Activities

Academic Papers

1. Mendelian susceptibility to mycobacterial diseases: state of the art, Clinical Microbiology and Infection, 28(11), 1429-1434, 20221128
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2. Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC, JOURNAL OF CLINICAL IMMUNOLOGY, 44(1), 202401
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3. Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency, JOURNAL OF CLINICAL IMMUNOLOGY, 44(7), 202410
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4. 18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency, JOURNAL OF CLINICAL IMMUNOLOGY, 44(7), 202410
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5. 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
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6. A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis, PNAS NEXUS, 2(4), 20230403
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7. Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-19, Journal of Clinical Immunology, 42(7), 1360-1380, 20220729
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