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Analysis and development of medical treatment for autoinflammatory diseases

Research Project

Project/Area Number 23249056
Research Category

Grant-in-Aid for Scientific Research (A)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionKyoto University

Principal Investigator

HEIKE TOSHIO  京都大学, 医学(系)研究科(研究院), 教授 (90190173)

Co-Investigator(Kenkyū-buntansha) NISHIKOMORI Ryuta  京都大学, 医学研究科, 准教授 (70359800)
YASUMI Takahiro  京都大学, 医学研究科, 講師 (00511891)
OHARA Osamu  (財)かずさDNA研究所, ヒトゲノム研究部, 部長 (20370926)
KAMBE Naotomo  千葉大学, 医学研究科, 講師 (50335254)
Project Period (FY) 2011-04-01 – 2014-03-31
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥47,840,000 (Direct Cost: ¥36,800,000、Indirect Cost: ¥11,040,000)
Fiscal Year 2013: ¥14,820,000 (Direct Cost: ¥11,400,000、Indirect Cost: ¥3,420,000)
Fiscal Year 2012: ¥15,730,000 (Direct Cost: ¥12,100,000、Indirect Cost: ¥3,630,000)
Fiscal Year 2011: ¥17,290,000 (Direct Cost: ¥13,300,000、Indirect Cost: ¥3,990,000)
Keywords自己炎症性疾患 / インフラマソーム / モザイシズム / CAPS / 高IgD症候群 / NLRP3 / インフラマゾーム / 次世代シークエンサー / 軟骨細胞 / 自然免疫 / 自己炎症疾患 / mevalonate kinase
Research Abstract

Autoinflammatory disease is a new entity of inflammatory disorder, characterized by periodic fever. Although it is comprehended that autoinflammatory disease is caused by inflammatory cytokine production through dysregulated inflammasome function, many aspects are still remained to be resolved from the view point of molecular mechanism. Moreover, it is not well evaluated that multiple organ pathophysiology is all derived from dysregulated inflammasome function. Base on this fund, we develop the evaluation of autoinflammatory disease through patient-derived samples, disease-specific iPS cells, animal model experiment, and new medical technology such as next generation sequencing. These results lead to the establishment of medical care system for inflammatory disease along with the precise comprehension for autoinflammatory disease.

Report

(4 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Annual Research Report
  • 2011 Annual Research Report
  • Research Products

    (21 results)

All 2014 2013 2012 2011 Other

All Journal Article (15 results) (of which Peer Reviewed: 5 results,  Open Access: 1 results) Presentation (4 results) (of which Invited: 1 results) Book (1 results) Remarks (1 results)

  • [Journal Article] Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.2014

    • Author(s)
      Nakagawa K, Kawai T, Umebayashi H, Takei S, Kobayashi N, Yashiro M, Kubota T, Koike R, Akuta N, Shimoyama K, Iwata N, Saito MK, Ohara O, Kambe N, Yasumi T, Izawa K, Kawai T, Heike T, Yagüe J, Nishikomori R, Aróstegui JI et al.
    • Journal Title

      Ann Rheum Dis.

      Volume: in press Issue: 3 Pages: 1-8

    • DOI

      10.1136/annrheumdis-2013-204361

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.2014

    • Author(s)
      Abe J, Nakamura K, Nishikomori R, Kato M, Mitsuiki N, Izawa K, Awaya T, Kawai T, Yasumi T, Toyoshima I, Hasegawa K, Ohshima Y, Hiragi T, Sasahara Y, Suzuki Y, Kikuchi M, Osaka H, Ohya T, Ninomiya S, Fujikawa S, Akasaka M, Iwata N, Kawakita A, Funatsuka M, Shintaku H, Ohara O, Ichinose H, Heike T.
    • Journal Title

      Rheumatology

      Volume: 53 Issue: 3 Pages: 448-458

    • DOI

      10.1093/rheumatology/ket372

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.2013

    • Author(s)
      Nakagawa K, Gonzalez-Roca E, Souto A, Kawai T, Umebayashi H, Campistol JM, Cañellas J, Takei S, Kobayashi N, Callejas-Rubio JL, Ortego-Centeno N, Ruiz-Ortiz E, Rius F, Anton J, Iglesias E, Jimenez-Treviño S, Vargas C, Fernandez-Martin J, Calvo I, Hernández-Rodríguez J, Mendez M, Dordal MT, Basagaña M, Bujan S, Yashiro M, Kubota T, Koike R, Akuta N, Shimoyama K, Iwata N, Saito MK, Ohara O, Kambe N, Yasumi T, Izawa K, Kawai T, Heike T, Yagüe J, Nishikomori R, Aróstegui JI
    • Journal Title

      Ann Rheum Dis

    • Related Report
      2013 Final Research Report
  • [Journal Article] Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome2013

    • Author(s)
      Kawai M, Yoshikawa T, Nishikomori R, Heike T, Takahashi K
    • Journal Title

      Clin Ophthalmol

      Volume: 7 Pages: 1581-1585

    • Related Report
      2013 Final Research Report
  • [Journal Article] Safety and efficacy of canakinumab in Japanese patients with phenotypes of cryopyrin-associated periodic syndrome as established in the first open-label, phase-3 pivotal study (24-week results)2013

    • Author(s)
      Imagawa T, Nishikomori R, Takada H, Takeshita S, Patel N, Kim D, Lheritier K, Heike T, Hara T, Yokota S
    • Journal Title

      Clin Exp Rheumatol

      Volume: 31 Pages: 302-309

    • Related Report
      2013 Final Research Report 2012 Annual Research Report
  • [Journal Article] Guidance on the use of canakinumab in patients with cryopyrin-associated periodic syndrome in Japan2013

    • Author(s)
      Yokota S, Nishikomori R, Takada H, Kikuchi M, Nozawa T, Kanetaka T, Kizawa T, Miyamae T, Mori M, Heike T, Hara T, Imagawa T
    • Journal Title

      Mod Rheumatol

      Volume: 23 Pages: 425-429

    • NAID

      10031175900

    • Related Report
      2013 Final Research Report
  • [Journal Article] Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99. 9% statistical confidence by massively parallel sequencing2012

    • Author(s)
      Izawa K, Hijikata A, Tanaka N, Kawai T, Saito MK, Goldbach-Mansky R, Aksentijevich I, Yasumi T, Nakahata T, Heike T, Nishikomori R, Ohara O
    • Journal Title

      DNA Res

      Volume: 19 Pages: 143-152

    • Related Report
      2013 Final Research Report
  • [Journal Article] Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery2012

    • Author(s)
      Tanaka T, Takahashi K, Yamane M, Tomida S, Nakamura S, Oshima K, Niwa A, Nishikomori R, Kambe N, Hara H, Mitsuyama M, Morone N, Heuser JE, Yamamoto T, Watanabe A, Sato-Otsubo A, Ogawa S, Asaka I, Heike T, Yamanaka S, Nakahata T, Saito MK
    • Journal Title

      Blood

      Volume: 120 Pages: 1299-1308

    • Related Report
      2013 Final Research Report 2012 Annual Research Report
  • [Journal Article] An approach to the patients with cryopyrin-associated periodic syndrome (CAPS) : a new biologic response modifier, canakinumab2012

    • Author(s)
      Yokota S, Kikuchi M, Nozawa T, Kizawa T, Kanetaka T, Miyamae T, Mori MA, Nishikomori R, Takata H, Heike T, Hara T, Imagawa T
    • Journal Title

      Nihon Rinsho Meneki Gakkai Kaishi

      Volume: 35 Pages: 23-29

    • NAID

      10030465541

    • Related Report
      2013 Final Research Report
  • [Journal Article] Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing2012

    • Author(s)
      Izawa K
    • Journal Title

      DNA Re

      Volume: 19 Pages: 143-152

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.2012

    • Author(s)
      Abe J
    • Journal Title

      Rheumatology

      Volume: 52 Issue: 2 Pages: 406-408

    • DOI

      10.1093/rheumatology/kes181

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Hyperimmunoglobulinemia D and periodic fever syndrome2011

    • Author(s)
      Sakai H, Heike T
    • Journal Title

      Nihon Rinsho Meneki Gakkai Kaishi

      Volume: 34 Pages: 382-387

    • NAID

      10029898019

    • Related Report
      2013 Final Research Report
  • [Journal Article] High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome2011

    • Author(s)
      Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, 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, Aróstegui JI, Yagüe J, Merino R, Ibañez M, Pontillo A, Takada H, Imagawa T, Kawai T, Yasumi T, Nakahata T, Heike T
    • Journal Title

      International Multicenter Collaborative Study

      Volume: 63 Pages: 3625-3632

    • Related Report
      2013 Final Research Report
  • [Journal Article] Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation2011

    • Author(s)
      Tahara M, Sakai H, Nishikomori R, Yasumi T, Heike T, Nagata I, Inui A, Fujisawa T, Shigematsu Y, Nishijima K, Kuwakado K, Watabe S, Kameyama J
    • Journal Title

      Mod Rheumatol

      Volume: 21 Pages: 641-645

    • NAID

      10030206205

    • Related Report
      2013 Final Research Report
  • [Journal Article] High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome2011

    • Author(s)
      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
    • Journal Title

      Arthritis Rheum

      Volume: 63 Issue: 11 Pages: 3625-32

    • DOI

      10.1002/art.30512

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Presentation] 自己炎症性疾患の包括的把握に向けた臨床研究体制の整備について2013

    • Author(s)
      平家俊男
    • Organizer
      第116回日本小児科学会学術集会
    • Place of Presentation
      広島
    • Year and Date
      2013-04-20
    • Related Report
      2013 Final Research Report
  • [Presentation] 自己炎症性疾患における診療研究の新展開~"炎症"と小児発熱性疾患~2013

    • Author(s)
      平家俊男
    • Organizer
      第117回日本小児科学会学術集会
    • Place of Presentation
      名古屋
    • Year and Date
      2013-04-12
    • Related Report
      2013 Final Research Report
  • [Presentation] 自己炎症性疾患の包括的把握に向けた臨床研究体制の整備について2013

    • Author(s)
      平家俊男
    • Organizer
      日本小児科学会学術集会シンポジウム
    • Place of Presentation
      広島
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] 患者特異的iPS細胞を用いたCINCA症候群体細胞モザイクの病態解明2011

    • Author(s)
      田中孝之、平家俊男, 他
    • Organizer
      第21回日本小児リウマチ学会総会・学術集会
    • Place of Presentation
      神戸国際会議場
    • Year and Date
      2011-10-16
    • Related Report
      2011 Annual Research Report
  • [Book] 自己炎症性疾患・自然免疫不全症とその近縁疾患2012

    • Author(s)
      平家俊男, 他
    • Publisher
      診断と治療社
    • Related Report
      2013 Final Research Report
  • [Remarks]

    • URL

      http://aid.kazusa.or.jp/2013/

    • Related Report
      2013 Final Research Report

URL: 

Published: 2011-04-06   Modified: 2019-07-29  

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