文献

J-GLOBAL ID：202002218855536280   整理番号：20A2291456

共通の可変性免疫不全と自己免疫に関連する単発性原発性免疫不全症【JST・京大機械翻訳】

Monogenic Primary Immunodeficiency Disorder Associated with Common Variable Immunodeficiency and Autoimmunity

著者 (70件)： Asgardoon Mohammad Hossein (Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Science, Tehran, Iran) ,  Azizi Gholamreza (Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran) ,  Yazdani Reza (Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Science, Tehran, Iran) ,  Yazdani Reza (Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Sciences, Tehran, Iran) ,  Sohani Mahsa (Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Science, Tehran, Iran) ,  Pashangzadeh Salar (Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Science, Tehran, Iran) ,  Kalantari Arash (Department of Immunology and Allergy, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran) ,  Shariat Mansoureh (Department of Allergy and Clinical Immunology, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran) ,  Shafiei Alireza (Department of Immunology, Bahrami Hospital, Tehran University of Medical Sciences, Tehran, Iran) ,  Salami Fereshte (Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Science, Tehran, Iran) ,  Jamee Mahnaz (Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran) ,  Rasouli Seyed Erfan (Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran) ,  Mohammadi Javad (Department of Life Science, Faculty of New Science and Technology, University of Tehran, Tehran, Iran) ,  Hassanpour Gholamreza (Center for Research of Endemic Parasites of Iran, Tehran University of Medical Sciences, Tehran, Iran) ,  Tavakol Marziyeh (Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran) ,  Chavoshzadeh Zahra (Pediatric Infections Research Center, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran) ,  Mahdaviani Seyed Alireza (Pediatric Respiratory Disease Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran) ,  Momen Tooba (Department of Allergy and Clinical Immunology, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran) ,  Behniafard Nasrin (Department of Allergy and Clinical Immunology, Shahid Sadoughi University of Medical Sciences, Yazd, Iran) ,  Nabavi Mohammad (Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran) ,  Bemanian Mohammad Hassan (Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran) ,  Arshi Saba (Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran) ,  Molatefi Rasol (Department of Pediatrics, Bo-Ali Children’s Hospital of Ardabil University of Medical Sciences, Ardabil, Iran) ,  Sherkat Roya (Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran) ,  Shirkani Afshin (Allergy and Clinical Immunology Department, Bushehr University of Medical Sciences, School of Medicine, Bushehr, Iran) ,  Alyasin Soheila (Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran) ,  Jabbari-Azad Farahzad (Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran) ,  Ghaffari Javad (Department of Pediatrics, Mazandaran University of Medical Sciences, Sari, Iran) ,  Mesdaghi Mehrnaz (Immunology and Allergy Department, Mofid Children’s Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran) ,  Ahanchian Hamid (Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran) ,  Khoshkhui Maryam (Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran) ,  Eslamian Mohammad Hossein (Department of Pediatrics, Hamedan University of Medical Sciences, Hamedan, Iran) ,  Cheraghi Taher (Department of Pediatrics, 17 Shahrivar Children’s Hospital, Guilan University of Medical Sciences, Rasht, Iran) ,  Dabbaghzadeh Abbas (Department of Allergy and Clinical Immunology, Pediatrics Infectious Diseases Research Center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran) ,  Nasiri Kalmarzi Rasoul (Cellular & Molecular Research Center, Kurdistan University of Medical Sciences, Sanandaj, Iran) ,  Esmaeilzadeh Hossein (Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran) ,  Tafaroji Javad (Department of Pediatrics, Qom University of Medical Sciences, Qom, Iran) ,  Khalili Abbas (Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran) ,  Sadeghi-Shabestari Mahnaz (Department of Immunology and Allergy, Tabriz University of Medical Sciences, Tabriz, Iran) ,  Darougar Sepideh (Pediatric Infections Research Center, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran) ,  Moghtaderi Mojgan (Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran) ,  Ahmadiafshar Akefeh (Mousavi Hospital, Zanjan University of Medical Sciences, Zanjan, Iran) ,  Shakerian Behzad (Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran) ,  Heidarzadeh Marzieh (Department of Immunology and Allergy, Kashan University of Medical Sciences, Kashan, Iran) ,  Ghalebaghi Babak (Department of Pediatrics, 17 Shahrivar Children’s Hospital, Guilan University of Medical Sciences, Rasht, Iran) ,  Fathi Seyed Mohammad (Department of Immunology and Allergy, Qazvin University of Medical Sciences, Qazvin, Iran) ,  Darabi Behzad (Department of Immunology and Allergy, Ilam University of Medical Sciences, Ilam, Iran) ,  Fallahpour Morteza (Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran) ,  Mohsenzadeh Azam (Department of Pediatrics, Lorestan University of Medical Sciences, Khorramabad, Iran) ,  Ebrahimi Sarehsadat (Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellences, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran) ,  Sharafian Samin (Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellences, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran) ,  Vosughimotlagh Ahmad (Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellences, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran) ,  Tafakoridelbari Mitra (Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellences, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran) ,  Rahimi Haji-Abadi Maziyar (Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellences, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran) ,  Ashournia Parisa (Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellences, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran) ,  Razaghian Anahita (Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellences, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran) ,  Rezaei Arezou (Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Science, Tehran, Iran) ,  Delavari Samaneh (Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Science, Tehran, Iran) ,  Shirmast Paniz (Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Science, Tehran, Iran) ,  Babaha Fateme (Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Science, Tehran, Iran) ,  Samavat Ashraf (Genetics Office, Centers for Disease Control and Prevention (CDC), Ministry of Health of Iran, Tehran, Iran) ,  Mamishi Setareh (Pediatric Infectious Diseases Research Center, Tehran University of Medical, Sciences, Tehran, Iran) ,  Khazaei Hossein Ali (Clinical Immunology Research Center, Zahedan University of Medical Sciences, Zahedan, Iran) ,  Negahdari Babak (Department of Medical Biotechnology, School of Advanced Technologies in Medicine, Tehran University of Medical Sciences, Tehran, Iran) ,  Rezaei Nima (Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Science, Tehran, Iran) ,  Abolhassani Hassan (Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Sciences, Tehran, Iran) ,  Abolhassani Hassan (Research Center for Primary Immunodeficiency, Iran University of Medical Sciences, Tehran, Iran) ,  Abolhassani Hassan (Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at the Karolinska University Hospital Huddinge, Stockholm, Sweden) ,  Aghamohammadi Asghar (Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Science, Tehran, Iran) ,  Aghamohammadi Asghar (Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Sciences, Tehran, Iran)
資料名： International Archives of Allergy and Immunology  (International Archives of Allergy and Immunology)
巻： 181  号： 9  ページ： 706-714  発行年： 2020年 
JST資料番号： A0884B  ISSN： 1018-2438  CODEN： IAAIEG  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： スイス (CHE)  言語： 英語 (EN)

抄録/ポイント： 背景:共通変数免疫不全(CVID)は,B細胞の喪失または機能不全を含む他の免疫学的欠損の他に,主に再発性細菌感染を特徴とする最も頻度の高い原発性免疫不全障害であり,免疫グロブリンレベルを減少させた。本研究では,CVIDおよび自己免疫性表現型の原発性臨床診断の患者の臨床的,免疫学的および分子データを,確認された遺伝的診断により評価した。方法:イランの小児医療センター病院におけるイランの原発性免疫不全登録に登録されたCVID患者297名のうち,83名の患者が遺伝学的に検査され,27名の自己免疫患者と確認された遺伝子変異が分析のために選択された。全エキソーム配列決定と確認サンガー配列決定法を研究集団に用いた。アンケートは,人口統計的,実験室的,臨床的および遺伝学的データを評価するために,すべての患者に対して遡及的に満たされた。結果:27名の研究患者において,11の異なる遺伝的欠損が同定され,最も一般的な変異遺伝子は17名(63.0%)の患者で報告されたLRBAであった。2人の患者(7.7%)は,免疫不全の最初の提示として自己免疫性合併症を示した。11人の患者(40.7%)は自己免疫の1タイプを発症し,16人の患者(59.3%)は多自己免疫に進行した。単自己免疫(n=9,90.0%)のほとんどの患者は,主に感染性合併症を発症し,一方,多自己免疫患者では,最も一般的な最初の提示は腸疾患(n=6,37.6%)であった。13人の患者(61.9%)において,自己免疫障害の診断は原発性免疫不全の診断に先行した。最も高頻度の自己免疫徴候は,血液学的(40.7%),胃腸(48.1%),リウマチ(25.9%)および皮膚科(22.2%)であった。ポリ自己免疫を有する患者は,単一自己免疫患者より低い調節性T細胞を有した。結論:著者らのコホートにおいて,自己免疫障害の診断は,大部分の患者における原発性免疫不全の診断に先行した。この関連は,自己免疫症状を示す患者が体液性免疫のために評価されるべきであるという事実を強調する。Please refer to the publisher for the copyright holders. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： 遺伝 ,  遺伝子 ,  免疫グロブリン ,  表現型 ,  リウマチ ,  *自己免疫 ,  細菌感染 ,  母集団 ,  合併症 ,  *免疫不全症候群 ,  自己免疫病 ,  腸疾患 ,  遺伝子変異 ,  制御性T細胞
準シソーラス用語： エクソーム , 【Automatic Indexing@JST】

著者キーワード (5件)： 原発性免疫不全 ,  共通変数免疫不全 ,  自己免疫 ,  危険配列決定 ,  全エクソーム配列決定

分類 (1件)： 免疫性疾患・アレルギー性疾患一般  (GD04010C)

タイトルに関連する用語 (4件)： 可変性 ,  免疫不全 ,  自己免疫 ,  原発性免疫不全症