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J-GLOBAL ID：202202291706573670   整理番号：22A0681528

免疫の遺伝的エラーは小児非悪性リンパ増殖性疾患を区別する【JST・京大機械翻訳】

Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders

著者 (76件)： Forbes Lisa R. (Department of Pediatrics, Baylor College of Medicine, Houston, Tex) ,  Forbes Lisa R. (Texas Children’s Hospital, Houston, Tex) ,  Forbes Lisa R. (Division of Pediatric Immunology/Allergy/Retrovirology, Texas Children’s Hospital, Houston, Tex) ,  Eckstein Olive S. (Department of Pediatrics, Baylor College of Medicine, Houston, Tex) ,  Eckstein Olive S. (Texas Children’s Hospital, Houston, Tex) ,  Eckstein Olive S. (Division of Pediatric Hematology/Oncology, Texas Children’s Hospital Cancer Center, Houston, Tex) ,  Gulati Nitya (Department of Pediatrics, Baylor College of Medicine, Houston, Tex) ,  Gulati Nitya (Texas Children’s Hospital, Houston, Tex) ,  Gulati Nitya (Division of Pediatric Hematology/Oncology, Texas Children’s Hospital Cancer Center, Houston, Tex) ,  Peckham-Gregory Erin C. (Department of Pediatrics, Baylor College of Medicine, Houston, Tex) ,  Peckham-Gregory Erin C. (Division of Pediatric Hematology/Oncology, Texas Children’s Hospital Cancer Center, Houston, Tex) ,  Ozuah Nmazuo W. (Department of Pediatrics, Baylor College of Medicine, Houston, Tex) ,  Ozuah Nmazuo W. (Texas Children’s Hospital, Houston, Tex) ,  Ozuah Nmazuo W. (Division of Pediatric Hematology/Oncology, Texas Children’s Hospital Cancer Center, Houston, Tex) ,  Lubega Joseph (Department of Pediatrics, Baylor College of Medicine, Houston, Tex) ,  Lubega Joseph (Texas Children’s Hospital, Houston, Tex) ,  Lubega Joseph (Division of Pediatric Hematology/Oncology, Texas Children’s Hospital Cancer Center, Houston, Tex) ,  El-Mallawany Nader K. (Department of Pediatrics, Baylor College of Medicine, Houston, Tex) ,  El-Mallawany Nader K. (Texas Children’s Hospital, Houston, Tex) ,  El-Mallawany Nader K. (Division of Pediatric Hematology/Oncology, Texas Children’s Hospital Cancer Center, Houston, Tex) ,  Agrusa Jennifer E. (Department of Pediatrics, Baylor College of Medicine, Houston, Tex) ,  Agrusa Jennifer E. (Texas Children’s Hospital, Houston, Tex) ,  Agrusa Jennifer E. (Division of Pediatric Hematology/Oncology, Texas Children’s Hospital Cancer Center, Houston, Tex) ,  Poli M. Cecilia (Department of Pediatrics, Baylor College of Medicine, Houston, Tex) ,  Poli M. Cecilia (Texas Children’s Hospital, Houston, Tex) ,  Poli M. Cecilia (Universidad del Desarrollo, Clinica Alemana de Santiago, Santiago, Chile) ,  Vogel Tiphanie P. (Department of Pediatrics, Baylor College of Medicine, Houston, Tex) ,  Vogel Tiphanie P. (Texas Children’s Hospital, Houston, Tex) ,  Vogel Tiphanie P. (Division of Pediatric Rheumatology, Texas Children’s Hospital, Houston, Tex) ,  Chaimowitz Natalia S. (Department of Pediatrics, Baylor College of Medicine, Houston, Tex) ,  Chaimowitz Natalia S. (Texas Children’s Hospital, Houston, Tex) ,  Chaimowitz Natalia S. (Division of Pediatric Immunology/Allergy/Retrovirology, Texas Children’s Hospital, Houston, Tex) ,  Rider Nicholas L. (Department of Pediatrics, Baylor College of Medicine, Houston, Tex) ,  Rider Nicholas L. (Texas Children’s Hospital, Houston, Tex) ,  Rider Nicholas L. (Division of Pediatric Immunology/Allergy/Retrovirology, Texas Children’s Hospital, Houston, Tex) ,  Mace Emily M. (New York Presbyterian Morgan Stanley Children’s Hospital, Columbia University College of Physicians and Surgeons, Department of Pediatrics, New York, NY) ,  Orange Jordan S. (New York Presbyterian Morgan Stanley Children’s Hospital, Columbia University College of Physicians and Surgeons, Department of Pediatrics, New York, NY) ,  Caldwell Jason W. (Section of Pulmonary, Critical Care, Allergic and Immunologic Diseases, Wake Forest University School of Medicine, Winston-Salem, NC) ,  Aldave-Becerra Juan C. (Division of Allergy and Immunology, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru) ,  Jolles Stephen (Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, United Kingdom) ,  Saettini Francesco (Department of Pediatric Hematology, Fondazione MBBM, University of Milan-Bicocca, Monza, Italy) ,  Chong Hey J. (Division of Pediatric Allergy and Immunology, Children’s Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pa) ,  Stray-Pedersen Asbjorg (Department of Pediatric and Adolescent Medicine, Oslo University Hospital, University of Oslo, Oslo, Norway) ,  Heslop Helen E. (Department of Pediatrics, Baylor College of Medicine, Houston, Tex) ,  Heslop Helen E. (Texas Children’s Hospital, Houston, Tex) ,  Heslop Helen E. (Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, Tex) ,  Kamdar Kala Y. (Department of Pediatrics, Baylor College of Medicine, Houston, Tex) ,  Kamdar Kala Y. (Texas Children’s Hospital, Houston, Tex) ,  Kamdar Kala Y. (Division of Pediatric Hematology/Oncology, Texas Children’s Hospital Cancer Center, Houston, Tex) ,  Rouce R. Helen (Department of Pediatrics, Baylor College of Medicine, Houston, Tex) ,  Rouce R. Helen (Texas Children’s Hospital, Houston, Tex) ,  Rouce R. Helen (Division of Pediatric Hematology/Oncology, Texas Children’s Hospital Cancer Center, Houston, Tex) ,  Rouce R. Helen (Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, Tex) ,  Muzny Donna M. (Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex) ,  Muzny Donna M. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex) ,  Jhangiani Shalini N. (Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex) ,  Jhangiani Shalini N. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex) ,  Gibbs Richard A. (Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex) ,  Gibbs Richard A. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex) ,  Gibbs Richard A. (Baylor-Hopkins Center for Mendelian Genomics, Houston, Tex) ,  Coban-Akdemir Zeynep H. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex) ,  Coban-Akdemir Zeynep H. (Baylor-Hopkins Center for Mendelian Genomics, Houston, Tex) ,  Lupski James R. (Department of Pediatrics, Baylor College of Medicine, Houston, Tex) ,  Lupski James R. (Texas Children’s Hospital, Houston, Tex) ,  Lupski James R. (Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex) ,  Lupski James R. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex) ,  Lupski James R. (Baylor-Hopkins Center for Mendelian Genomics, Houston, Tex) ,  McClain Kenneth L. (Department of Pediatrics, Baylor College of Medicine, Houston, Tex) ,  McClain Kenneth L. (Texas Children’s Hospital, Houston, Tex) ,  McClain Kenneth L. (Division of Pediatric Hematology/Oncology, Texas Children’s Hospital Cancer Center, Houston, Tex) ,  Allen Carl E. (Department of Pediatrics, Baylor College of Medicine, Houston, Tex) ,  Allen Carl E. (Texas Children’s Hospital, Houston, Tex) ,  Allen Carl E. (Division of Pediatric Hematology/Oncology, Texas Children’s Hospital Cancer Center, Houston, Tex) ,  Chinn Ivan K. (Department of Pediatrics, Baylor College of Medicine, Houston, Tex) ,  Chinn Ivan K. (Texas Children’s Hospital, Houston, Tex) ,  Chinn Ivan K. (Division of Pediatric Immunology/Allergy/Retrovirology, Texas Children’s Hospital, Houston, Tex)
資料名： Journal of Allergy and Clinical Immunology  (Journal of Allergy and Clinical Immunology)
巻： 149  号： 2  ページ： 758-766  発行年： 2022年 
JST資料番号： A0182B  ISSN： 0091-6749  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： 小児非悪性リンパ増殖性疾患(PLPD)は臨床的および遺伝的に不均一である。小児における長期免疫調節不全とリンパ増殖は生命を脅かす可能性があり,PLPDの小児の評価と治療を導くデータ不足が存在する。本研究の主目的は,PLPDにおけるゲノム免疫欠損のスペクトルを確認することであった。第2の目的は,臨床結果の特性化と,遺伝的診断と転帰の間の関連を含んだ。PLPDは,慢性または有意なEpstein-Barrウイルス(EBV)感染の有無で,3か月以上の持続性リンパ節腫脹,リンパ器官関与またはリンパ球浸潤により定義された。PLPDを有する47の異なる家族からの51人の被験者を,全エキソーム配列決定を用いて分析した。全エキソーム配列決定は,家族の51%から62%(影響を受けた子供の53%から65%)における免疫の遺伝的誤差を同定した。遺伝的病因の存在は,より若い年齢と血球貪食性リンパ組織球症と関連していた。コホートの10年生存は72.4%であり,生存可能な遺伝的診断患者は,遺伝的説明のない子供と比較して生存率が高かった(82%)。EBV関連疾患の個人に対する生存転帰および遺伝的説明は,EBV関連疾患を有する被験者および遺伝的説明(17%対90%;P=0.002)に対する結果よりも特に悪かった。分子診断の保証は18個体までの標的化可能な治療選択肢を提供し,12人の患者に対する活性管理変化につながった。PLPDは死亡率の高いリスクの子供を定義し,全体のエキソーム配列決定はこの診断の臨床リスクと治療機会を知らせる。Copyright 2022 Elsevier B.V., Amsterdam. All rights reserved. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： *遺伝 ,  死亡率 ,  免疫反応 ,  *リンパ ,  ゲノム ,  子供 ,  生存率 ,  治療法 ,  母集団 ,  ターゲティング ,  免疫不全症候群 ,  遺伝子診断 ,  病因
準シソーラス用語： 被験者 ,  分子診断 ,  リンパ球浸潤 ,  エクソーム , 【Automatic Indexing@JST】

著者キーワード (5件)： リンパ球増殖 ,  小児 ,  全エクソーム配列決定 ,  ゲノミクス ,  Epstein-Barrウイルス

分類 (3件)： 免疫性疾患・アレルギー性疾患一般  (GD04010C) ,  ウイルス感染の生理と病原性  (EG04042Y) ,  血液の診断  (GK02000Y)

タイトルに関連する用語 (4件)： 免疫 ,  エラー ,  小児 ,  リンパ増殖性疾患