KREC/TRECによる先天性免疫不全症スクリーニング法開発と病態解析への応用

• 研究課題/領域番号: 22390213
• 研究種目: 基盤研究(B)
• 配分区分: 補助金
• 応募区分: 一般
• 研究分野: 小児科学
• 研究機関: 防衛医科大学校
• 研究代表者: 野々山 恵章 防衛医科大学校, 医学教育部医学科専門課程, 教授 (40280961)
• 研究分担者: 小原 收 (小原 収) 公益財団法人かずさDNA研究所, ヒトゲノム研究部, 副所長 (20370926) ; 大嶋 宏一 京都大学, 学内共同利用施設等, 研究員 (60525377) ; 今井 耕輔 東京医科歯科大学, 医歯(薬)学総合研究科, 准教授 (90332626)
• 研究期間 (年度): 2010 – 2012
• 研究課題ステータス: 完了 (2012年度)
• 配分額: 18,720千円 (直接経費: 14,400千円、間接経費: 4,320千円); 2012年度: 5,330千円 (直接経費: 4,100千円、間接経費: 1,230千円); 2011年度: 5,330千円 (直接経費: 4,100千円、間接経費: 1,230千円); 2010年度: 8,060千円 (直接経費: 6,200千円、間接経費: 1,860千円)
• キーワード: 小児免疫・アレルギー・膠原病学 / 免疫学 / 遺伝子 / 移植・再生医療 / 発生・分化 / 感染症

研究概要

新生児乾燥濾紙血のTREC (T cell receptor recombination circles)とKREC (Kappa-chain recombination excision circles) 測定で、SCID, AT, XLAなどの先天性免疫不全症をスクリーニングできること、病態解析に有用であることを示した。また、分類不能型免疫不全症がTRECとKRECの陽性・陰性で4群に分けられること4群間で重症度が異なること、病態に即した治療法を選択できることを見出した。

研究成果

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• [雑誌論文] Hyper-eosinophilia in granular acute B-cell lymphoblastic leukemia with myeloid antigen expression (2012)
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• [雑誌論文] Clinical and genetic characteristics of XIAP deficiency in Japan (2012)
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  • 雑誌名: J Clin Immunol 巻: (in press)
  • 査読あり
• [雑誌論文] Functional STAT3 deficiency compromises IL-12-dependent generation of human T-follicular helper cells (2012)
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  • 雑誌名: Blood 巻: (in press)
  • 査読あり
• [雑誌論文] Missense Mutations of the BMPR1B (ALK6) Gene in Childhood Idiopathic Pulmonary Arterial Hypertension (2012)
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  • NAID: 10030316588
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• [雑誌論文] Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, north India (2012)
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  • 雑誌名: Pediatr Res 巻: 69 ページ: 306-311
  • 査読あり
• [雑誌論文] Defective IL-10 signaling in hyper-IgE syndrome results in impaired generation of tolerogenic dendritic cells and induced regulatory T cells (2011)
  • 著者名/発表者名: Saito M, Nagasawa M, Takada H, Hara T, Tsuchiya S, Agematsu K, Yamada M, Kawamura N, Ariga T, Tsuge I, Nonoyama S, Karasuyama H, Minegishi Y
  • 雑誌名: J Exp Med 巻: 208 ページ: 235-249
  • 査読あり
• [雑誌論文] Severe human herpesvirus 6 associated encephalopathy in three children : Analysis of cytokine profiles and the carnitine palmitoyltransferase 2 gene (2011)
  • 著者名/発表者名: Matsumoto H, Hatanaka D, Ogura Y, Chida A, Nakamura Y, Nonoyama S
  • 雑誌名: Pediatr Infect Dis J 巻: 30 ページ: 999-1001
  • 査読あり
• [雑誌論文] Nationwide Survey of Patients with Primary Immunodeficiency Diseases in Japan (2011)
  • 著者名/発表者名: Ishimura M, Takada H, Doi T, Imai K, Sasahara Y, Kanegane H, Nishikomori R, Morio T, Heike T, Kobayashi M, Ariga T, Tsuchiya S, Nonoyama S, Miyawaki T, Hara T
  • 雑誌名: J Clin Immunol 巻: 31 ページ: 968-976
  • NAID: 120005133089
  • 査読あり
• [雑誌論文] Primary Immunodeficiency Diseases : an update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency (2011)
  • 著者名/発表者名: Al-Herz W, Bousfiha A, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Fischer A, Franco JL, Geha RS, Hammarstrom L, Nonoyama S, Notarangelo LD, Ochs HD, Puck JM, Roifman C, Seger R, Tang MLK
  • 雑誌名: Front Immun 巻: 2 ページ: 54-54
  • 査読あり
• [雑誌論文] Quantification of human herpesvirus-6 (HHV-6) DNA in a cord blood transplant recipient with chromosomal integration of HHV-6 (2011)
  • 著者名/発表者名: Kobayashi D, Kogawa K, Imai K, Tanaka T, Hiroi S, Satoh H, Tanaka-Taya K, Nonoyama S
  • 雑誌名: Transpl Infect Dis 巻: 13 ページ: 650-653
  • 査読あり
• [雑誌論文] Ulinastatin, a Urinary Trypsin Inhibitor, for the Initial Treatment of Patients with Kawasaki (2011)
  • 著者名/発表者名: Kanai T, Ishiwata T, Kobayashi T, Sato H, Takizawa M, Kawamura Y, Tsujimoto H, Nakatani K, Ishibashi N, Nishiyama M, Hatai Y, Asano Y, Kobayashi T, Takeshita S, Nonoyama S
  • 雑誌名: Circulation 巻: 124 ページ: 2822-2828
  • 査読あり
• [雑誌論文] Cardiopulmonary arrest caused by craniometaphyseal dysplasia (2011)
  • 著者名/発表者名: Chida A, Yanagawa Y, Matsumoto H, Nonoyama S
  • 雑誌名: Indian J Pediatr 巻: 78 ページ: 1010-1012
  • 査読あり
• [雑誌論文] Clinical and host genetic characteristics of Mendelian susceptibility to mycobacterial diseases in Japan (2011)
  • 著者名/発表者名: Hoshina T, Takada H, Sasaki-Mihara Y, Kusuhara K, Oshima K, Okada S, Kobayashi M, Ohara O, Hara T
  • 雑誌名: J Clin Immunol 巻: 31 ページ: 309-314
  • 査読あり
• [雑誌論文] A novel serum-free monolayer culture for orderly hematopoietic differentiation of human pluripotent cells via mesodermal progenitors (2011)
  • 著者名/発表者名: Niwa A, Heike T, Umeda K, Oshima K, Kato I, Sakai H, Suemori H, Nakahata T, Saito MK.Jul
  • 雑誌名: PLoS One 巻: 6
  • NAID: 120003324603
  • 査読あり
• [雑誌論文] High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome (2011)
  • 著者名/発表者名: Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R, Aksentijevich I, de Saint Basile G, Neven B, van Gijn M, Frenkel J, Arostegui JI, Yague J, Merino R, Ibanez M, Pontillo A, Takada H, Imagawa T
  • 雑誌名: Arthritis Rheum 巻: 63 号: 11 ページ: 3625-32
  • DOI: 10.1002/art.30512
  • 査読あり
• [雑誌論文] Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome (2011)
  • 著者名/発表者名: Mizuno T, Sakai H, Nishikomori R, Oshima K, Ohara O, Hata I, Shigematsu Y, Ishige T, Tamura K, Arakawa H
  • 雑誌名: Rheumatol Interest 巻: (in press)
  • 査読あり
• [雑誌論文] Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry. (2011)
  • 著者名/発表者名: Zhao M, Kanegane H, Kobayashi C, Nonoyama S, et al.
  • 雑誌名: Cytometry Part B Clinical Cytometry 巻: 80(1) ページ: 8-13
  • 査読あり
• [雑誌論文] Analysis of mutations and recombination activity in RAG-deficient patients. (2011)
  • 著者名/発表者名: Asai E, Wada T, Sakakibara Y, Nonoyama S, et al.
  • 雑誌名: Clinical Immunology 巻: 138(2) ページ: 172-7
  • NAID: 120002772030
  • 査読あり
• [雑誌論文] Contribution of sarcoplasmic reticulum Ca^2+ release and Ca^2+ transporters on sarcolemmal channels to Ca^2+ transient in fetal mouse heart.ouse heart. (2011)
  • 著者名/発表者名: Takizawa M, Ishiwata T, Kawamura Y, Nonoyama S., et al.
  • 雑誌名: Pediatric Research 巻: 69(4) ページ: 306-11
  • 査読あり
• [雑誌論文] Defective IL-10 signaling in hyper-IgE syndrome results in impaired generation of tolerogenic dendritic cells and induced regulatory T cells. (2011)
  • 著者名/発表者名: Saito M, Nagasawa M, Takada H, Nonoyama S, et al.
  • 雑誌名: The Journal of Experimental Medicine 巻: 208(2) ページ: 235-49
  • 査読あり
• [雑誌論文] Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. (2011)
  • 著者名/発表者名: Nakagawa N, Imai K, Kanegane H, Nonoyama S., et al.
  • 雑誌名: Journal of Allergy and Clinical Immunology 巻: (In press)
  • 査読あり
• [雑誌論文] X-linked thrombocytopenia (XLT) due to WAS mutations:Clinical characteristics, long-term outcome and treatment options (2010)
  • 著者名/発表者名: Albert MH, Bittner TC, Nonoyama S, Notarangelo LD, Burns S, Imai K, Espanol T, Fasth A, Pellier I, Strauss G, MorioT ,Gathmann B, Noordzij JG, Fillat C, Hoenig M, Nathrath M, Meindl A, Pagel P, Wintergerst U, Fischer A, Thrasher AJ, Belohradsky BH, Ochs HD
  • 雑誌名: Blood 巻: 115 号: 16 ページ: 3231-3238
  • DOI: 10.1182/blood-2009-09-239087
• [雑誌論文] Hemophagocytosis after bone marrow transplantation for JAK3-deficient severe combined immunodeficiency. (2010)
  • 著者名/発表者名: Hashii Y, Yoshida H, Kuroda S, Nonoyama S, et al.
  • 雑誌名: Pediatric Transplantation 巻: 14(8)
  • 査読あり
• [雑誌論文] A case of glycogen storage disease type Ib presenting with prolonged neonatal hypoglycaemia and minimal metabolic abnormalities. (2010)
  • 著者名/発表者名: Matsumoto H, Kajiwara S, Ogura Y, Asano T, Horikawa R, Nonoyama S.
  • 雑誌名: Acta Paediatrica 巻: 99(2) ページ: 163-4
  • 査読あり
• [雑誌論文] Quantitative assessment of PTPN11 or RAS mutations at the neonatal period and during the clinical course in patients with juvenile myelomonocytic leukaemia. (2010)
  • 著者名/発表者名: Matsuda K, Sakashita K, Taira C, Nonoyama S, et al.
  • 雑誌名: British Journal of Haematology 巻: 148(4) ページ: 593-9
  • 査読あり
• [雑誌論文] X-linked thrombocytopenia (XLT) due to WAS mutations : clinical characteristics, long-term outcome, and treatment options. (2010)
  • 著者名/発表者名: Albert MH, Bittner TC, Nonoyama S, et al.
  • 雑誌名: Blood 巻: 115(16) ページ: 3231-8
  • 査読あり
• [雑誌論文] Fetal and neonatal development of Ca^2+ transients and functional sarcoplasmic reticulum in beating mouse hearts. (2010)
  • 著者名/発表者名: Kawamura Y, Ishiwata T, Takizawa M, Ishida H, Asano Y, Nonoyama S.
  • 雑誌名: Circulation Journal 巻: 74(7) ページ: 1442-50
  • NAID: 10030695829
  • 査読あり
• [雑誌論文] Hyper IgM syndrome and complement Clq deficiency in an individual with systemic lupus erythematosus-like disease. (2010)
  • 著者名/発表者名: Tsuge I, Kondo Y, Nakajima Y, Nonoyama S, et al.
  • 雑誌名: Clinical and Experimental Rheumatology 巻: 28(4) ページ: 558-60
  • 査読あり
• [雑誌論文] Ataxia-telangiectasia in a patient presenting with hyper-immunoglobulin Msyndrome. (2010)
  • 著者名/発表者名: Aghamohammadi A, Imai K, Moazzami K, Nonoyama S, et al.
  • 雑誌名: Journal of Investigational Allergology and Clinical Immunology 巻: 20(5) ページ: 442-5
  • 査読あり
• [雑誌論文] Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. (2010)
  • 著者名/発表者名: Picard C, von Bernuth H, Ghandil P, Nonoyama S, et al.
  • 雑誌名: Medicine (Baltimore) 巻: 89(6) ページ: 403-25
  • 査読あり
• [学会発表] 次世代シークエンサーにより、原因遺伝子の同定に至ったCVIDの1例 (2012)
  • 著者名/発表者名: 釜江智佳子、満生紀子、小原明、野口恵美子、久保田健夫、本間健一、小原收、今井耕輔、野々山恵章
  • 学会等名: 第3回関東甲越免疫不全症研究会
  • 発表場所: 東京
  • 年月日: 2012-09-22
• [学会発表] Clinical features and immunological abnormalities of GATA2 deficiency in JAPAN (2012)
  • 著者名/発表者名: Honma K, Imai K, Kamae C, Ishida H, Ito Y, Kojima S, Yokosuka T, Kanegane H, Morio T, Sasahara Y, Fujiwara T, Harigae H, Hashii Y, Ohara O, Nonoyama S
  • 学会等名: 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
  • 発表場所: Florence, Italy
• [学会発表] Classification of common variable immunodeficiency by quantification of T cell receptor recombination excision circles (TREC) and Ig kappa-deleting recombination excision circles (KREC) (2012)
  • 著者名/発表者名: Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, Kanegane H, Pasic S, Pan-Hammarstrom Q, MC van Zelm, Morio T, Imai K, Nonoyama S
  • 学会等名: 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
  • 発表場所: Florence, Italy
• [学会発表] Genetic analysis for 207 cases with primary immunodeficiency (PID) consulted to a single center through PID network in Japan (PIDJ) in 5 years (2007-2011) (2012)
  • 著者名/発表者名: Mitsuiki N, Oshima K, Imai K, Ohara O, Morio T, Mizutani S
  • 学会等名: 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
  • 発表場所: Florence, Italy
• [学会発表] Clinical features and immunological abnormalities of GATA2 deficiency in JAPAN. (2012)
  • 著者名/発表者名: Honma K, Imai K, Kamae C, Ishida H, Ito Y, Kojima S, Yokosuka T, Kanegane H, Morio T, Sasahara Y, Fujiwara T, Harigae H, Hashii Y, Ohara O, Nonoyama S.
  • 学会等名: 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
  • 発表場所: Florence, Italy.
• [学会発表] Classification of common variable immunodeficiency by quantification of T cell receptor recombination excision circles (TREC) and Ig kappa-deleting recombination excision circles (KREC). (2012)
  • 著者名/発表者名: Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, Kanegane H, Pasic S, Pan-Hammarström Q, MC van Zelm, Morio T, Imai K, Nonoyama S.
  • 学会等名: 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
  • 発表場所: Florence, Italy.
• [学会発表] Genetic analysis for 207 cases with primary immunodeficiency (PID) consulted to a single center through PID network in Japan (PIDJ) in 5 years (2007-2011). (2012)
  • 著者名/発表者名: Mitsuiki N, Oshima K, Imai K, Ohara O, Morio T, Mizutani S.
  • 学会等名: 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
  • 発表場所: Florence, Italy.
• [図書] 小児科診療 (2013)
  • 著者名/発表者名: 今井耕輔
  • 総ページ数: 9
  • 出版者: PIDJと原発性免疫不全の新生児スクリーニング
• [図書] 臨床血液 (2012)
  • 著者名/発表者名: 今井耕輔
  • 総ページ数: 9
  • 出版者: 原発性免疫不全症の遺伝子診断・治療
• [図書] 臨床免疫・アレルギー科 (2012)
  • 著者名/発表者名: 今井耕輔
  • 総ページ数: 11
  • 出版者: 原発性免疫不全症の最新国際分類
• [備考]
  • URL: http://pidj.rcai.riken.jp/
• [備考] 原発性免疫不全症候群 医療関係者サイト
  • URL: http://pidj.rcai.riken.jp/
• [備考]
  • URL: http://pidj.rcai.riken.jp/
• [備考]
  • URL: http://pidj.rcai.riken.jp/