日本臨牀　78/増刊7　原発性免疫不全症候群

出版社： 日本臨牀社
発行日： 2020-12-31
分野： 臨床医学：一般  >  雑誌
ISSN： 00471852
雑誌名：
特集： 原発性免疫不全症候群
電子書籍版： 2020-12-31 （初版第1刷）
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目次

  • 特集　原発性免疫不全症候群
    　　　―最新の疾患分類と新規疾患を中心に―

    序文

    I．原発性免疫不全症候群総論
    　１．原発性免疫不全症候群：総論

    II．原発性免疫不全症候群：研究の進歩
    　1．責任遺伝子探索
    　2．保険収載で実施可能な責任遺伝子解析
    　3．新生児スクリーニング
    　4．胚細胞異常による免疫不全症を素地とする悪性腫瘍

    III．複合免疫不全症（細胞免疫及び液性免疫の異常）
    　1．概論およびトピックス
    　2．T－B＋重症複合免疫不全症（SCID）
    　3．T－B－重症複合免疫不全症（SCID）
    　4．SCIDよりも軽症な複合免疫不全症

    IV．免疫系以外の症状を呈する、あるいは症候群を呈する複合免疫不全症
    　1．概論およびトピックス
    　2．Immunodeficiency with Congenital Thrombocytopenia
    　3．DNA修復障害（III．複合免疫不全症に記載されたもの以外）
    　4．奇形を伴う胸腺欠損症
    　5．免疫骨形成異常
    　6．免疫不全を伴う無汗性外胚葉形成異常症（EDA-ID）
    　7．Other Defects

    V．抗体産生不全を主とする疾患
    　1．概論およびトピックス
    　2．B細胞欠如あるいは著明な低下を伴い，
    　　　すべての血清免疫グロブリンのアイソタイプの著明な低下を示すもの
    　3．B細胞数正常か低下を伴い，
    　　　少なくとも2種類の血清免疫グロブリンのアイソタイプの著明な低下を示すもの

    VI．免疫調節障害
    　1．概論及びトピックス
    　2．家族性血球貪食性リンパ組織球（FHL）症候群
    　3．Regulatory T Cell Defects
    　　（1）CD122 (インターロイキン-2受容体β鎖)欠損症
    　4．Autoimmunity with or without lymphoproliferation
    　5．大腸炎を伴う免疫調節不全
    　6．Susceptibility to EBV and Lymphoproliferative Conditions

    VII．食細胞（数あるいは機能）異常症
    　1．概論およびトピックス
    　2．先天性好中球減少症
    　3．好中球運動能の障害
    　4．Defects of Respiratory Burst
    　　（1）グルコース-6-リン酸脱水素酵素(G6PD)欠損症 classⅠ

    VIII．内因性あるいは自然免疫の異常
    　1．概論およびトピックス
    　2．メンデル遺伝型マイコバクテリア易感染疾患
    　3．Epidermodysplasia verruciformis (HPV)
    　4．重症ウイルス感染症易感染疾患（Predisposition to severe viral infection）
    　5．単純ヘルペス脳炎（HSE）
    　6．慢性皮膚粘膜カンジダ症易感染疾患（Chronic mucocutaneous candidiasis）
    　7．TLR Signaling Pathway Deficiency with Bacterial Susceptibility
    　8． Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues
    　9．Other Inborn Errors of Immunity Related to Leukocytes

    IX．自己炎症性疾患
    　1．概論およびトピックス
    　2．Type 1 Interferonopathies
    　3．インフラマソームに影響する異常
    　4．インフラマソームに関連しない状態

    X．補体異常症
    　1．概論およびトピックス
    　2．補体成分の欠損症

    XI．骨髄不全
    　1．概論およびトピックス
    　2．骨髄不全

    XII．原発性免疫不全症候群を模倣する疾患
    　1．概論およびトピックス
    　2．後天的な遺伝子変異（体細胞突然変異）による疾患
    　3．後天的な自己抗体産生による疾患

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本参考文献は電子書籍掲載内容を元にしております。

序文

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I 原発性免疫不全症候群総論

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II 原発性免疫不全症候群 : 研究の進歩

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III 複合免疫不全症 ( 細胞免疫および液性免疫の異常 )

P.55 掲載の参考文献
1) Tangye SG, et al : Human Inborn Errors of Immunity : 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 40 : 24-64, 2020.
 
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P.59 掲載の参考文献
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P.63 掲載の参考文献
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IV 免疫系以外の症状を呈する, あるいは症候群を呈する複合免疫不全症

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V 抗体産生不全を主とする疾患

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VI 免疫調節障害

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VII 食細胞 ( 数あるいは機能 ) 異常症

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VIII 内因性あるいは自然免疫の異常

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