Shinshu University · Department of Medicine / Faculty of Medicine · 助教

Research keywordspediatric rheumatology・autoinflammatory diseases・primary immunodeficiency・neonatal infections・genetic diagnosis・rare diseases

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• 全身性エリテマトーデスに腎梗塞を合併し抗リン脂質抗体症候群が疑われた1例
• Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation.
• Successful ibrutinib treatment for pulmonary involvement in a post-transplant patient with inherited bone marrow failure syndrome and very short telomeres.
• Immunoglobulin G4-related orbital disease in an 8-year-old girl.

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