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Identification and functional analysis of the genes critical for B cell terminal differentiation in ICF syndrome.

Research Project

Project/Area Number 25670484
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionNational Defense Medical College

Principal Investigator

NONOYAMA Shigeaki  防衛医科大学校(医学教育部医学科進学課程及び専門課程、動物実験施設、共同利用研究, 医学教育部医学科専門課程, 教授 (40280961)

Project Period (FY) 2013-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Keywords小児免疫 / アレルギー / 膠原病学
Outline of Final Research Achievements

ICF syndrome is characterized by immunodeficiency and a genetic disorder caused by aberrant DNA methylation. Its immunodeficiency is known to be derived from disability of B cells maturation.
So, we have tried to compare the methylation status of B cells of ICF syndrome patients and healthy controls. As a result, it was possible to clarify the group of genes dramatically shows the difference. Also, we have tried to compare the methylation status of immature B cells and mature B cells in healthy controls. As a result the difference has become to be also clear. We have also tried to do RNA analysis. As a result the extent of gene expression has become also clear.
By combining these results of three analyses, we succeeded to narrow down genes that are closely responsible for the maturation of B cells.

Report

(3 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Research-status Report
  • Research Products

    (18 results)

All 2014 2013 Other

All Journal Article (15 results) (of which Peer Reviewed: 15 results) Presentation (2 results) Remarks (1 results)

  • [Journal Article] The soluble ST2 and NT-proBNP combination, a useful biomarker for predicting prognosis of childhood pulmonary arterial hypertension.2014

    • Author(s)
      Chida A, Sato H, Shintani M, Nakayama T, Kawamura Y, Furutani Y, Inai K, Saji T, Matsuoka R, Nonoyama S, Nakanishi T.
    • Journal Title

      Circ J.

      Volume: 78 Pages: 436-442

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Galectin-9 enhances cytokine secretion, but suppresses survival and degranulation, in human mast cell line2014

    • Author(s)
      Kojima R, Ohno T, Iikura M, Niki T, Hirashima M, Iwaya K, Tsuda H, Nonoyama S, Matsuda A, Saito H, Matsumoto K, Nakae S
    • Journal Title

      PLoS ONE

      Volume: 9 Issue: 1 Pages: e86106-e86106

    • DOI

      10.1371/journal.pone.0086106

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] ACVRL1 Gene Variant in a Patient with Vein of Galen Aneurysmal Malformation.2014

    • Author(s)
      Chida A, Shintani M, Wakamatsu H, Tsutsumi Y, Iizuka Y, Kawaguchi N, Furutani Y, Inai K, Nonoyama S, Nakanishi T.
    • Journal Title

      J Pediatr Genet.

      Volume: 印刷中

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Mutations of NOTCH3 in childhood pulmonary arterial hypertension.2014

    • Author(s)
      Chida A, Shintani M, Matsushita Y, Sato H, Eitoku T, Nakayama T, Furutani Y, Hayama E, Kawamura Y, Inai K, Ohtsuki S, Saji T, Nonoyama S, Nakanishi T.
    • Journal Title

      Mol Genet Med.

      Volume: 印刷中

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Analysis of somatic hypermutation in the IgM switch region in human B cells.2014

    • Author(s)
      Horiuchi K, Imai K, Mitsui-Sekinaka K, Yeh ZW, Ochs HD, Durandy A, Nonoyama S.
    • Journal Title

      J Allergy Clin Immunol.

      Volume: 印刷中

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Efficacy and Safety of IgPro20, a Subcutaneous Immunoglobulin, in Japanese Patients with Primary Immunodeficiency Diseases.2014

    • Author(s)
      Kanegane H, Imai K, Yamada M, Takada H, Ariga T, Bexon M, Rojavin M, Hu W, Kobayashi M, Lawo JP, Nonoyama S, Hara T, Miyawaki T.
    • Journal Title

      J Clin Immunol.

      Volume: 34 Pages: 204-211

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency.2014

    • Author(s)
      Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Franco JL, Boby Gaspar H, Holland SM, Klein C, Nonoyama S, Ochs HD,
    • Journal Title

      Front Immunol.

      Volume: 162 Pages: 1-33

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles.2013

    • Author(s)
      Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, Kanegane H, Pasic S, Pan-Hammarstrom Q, van Zelm MC, Morio T, Imai K, Nonoyama S.
    • Journal Title

      J Allergy Clin Immunol.

      Volume: 131 Pages: 1437-1440

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Neonatal herpes encephalitis caused by a virologically confirmed acyclovir resistant herpes simplex virus type 1.2013

    • Author(s)
      Kakiuchi S, Nonoyama S, Wakamatsu H, Kogawa K, Wang L, Kinoshita-Yamaguchi H, Takayama-Ito M, Lim CK, Inoue N, Mizuguchi M, Igarashi T, Saijo M.
    • Journal Title

      J. Clin. Microbiol.

      Volume: 51 Pages: 356-359

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Impaired KLHL3-Mediated Ubiquitination of WNK4 Causes Human Hypertension.2013

    • Author(s)
      Wakabayashi M, Mori T, Isobe K. Sohara E, Susa K, Araki Y, Chiga M, Kikuchi E, Nomura N, Mori Y, Matsuo H, Murata T, Nomura S, Asano T, Kawaguchi H, Nonoyama S, Rai T, Sasaki S, Uchida S.
    • Journal Title

      Cell Reports.

      Volume: 3 Pages: 858-868

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside.2013

    • Author(s)
      Bousfiha AA, Jeddane L, Ailal F, Al Herz W, Conley ME, Cunningham-Rundles C, Etzioni A, Fischer A, Franco JL, Geha RS, Hammarström L, Nonoyama S, Ochs HD, Roifman CM, Seger R, Tang ML, Puck JM, Chapel H, Notarangelo LD, Casanova JL.
    • Journal Title

      J Clin Immunol.

      Volume: 33 Pages: 1078-1087

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] CUL3 gene analysis enables early intervention for pediatric pseudohypoaldosteronism type II in infancy.2013

    • Author(s)
      Osawa M, Ogura Y, Isobe K, Uchida S, Nonoyama S and Kawaguchi H.
    • Journal Title

      Pediatr Nephrol.

      Volume: 28 Pages: 1881-1884

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Maternal mosaicism of an ANKH mutation in a family with craniometaphyseal dysplasia2013

    • Author(s)
      Kato T, Matsumoto H, Chida A, Wakamatsu H, Nonoyama S.
    • Journal Title

      Pediatrics international.

      Volume: 55 Pages: 254-256

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Development of enzyme-linked immunosorbent assays for urinary thiazide-sensitive Na-Cl cotransporter (NCC) measurement.2013

    • Author(s)
      Isobe K, Mori T, Asano T, Kawaguchi H, Nonoyama S, Kumagai N, Kamada F, Morimoto T, Hayashi M, Sohara E, Rai T, Sasaki S, Uchida S.
    • Journal Title

      Am J Physiology Renal Physiology.

      Volume: 305 Pages: 1374-1381

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Chronic Granulomatous Disease: Two Decades of Experience From a Tertiary Care Centre in North West India.2013

    • Author(s)
      Rawat A, Singh S, Suri D, Gupta A, Saikia B, Minz RW, Sehgal S, Vaiphei K, Kamae C, Honma K, Nakagawa N, Imai K, Nonoyama S, Oshima K, Mitsuiki N, Ohara O,
    • Journal Title

      J Clin Immunol.

      Volume: 33 Pages: 857-864

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Presentation] 本邦におけるICF症候群5例の検討2014

    • Author(s)
      釜江智佳子、加藤環、本間健一、小原收、今井耕輔、久保田健夫、野々山恵章
    • Organizer
      日本小児科学会
    • Place of Presentation
      名古屋
    • Year and Date
      2014-04-11
    • Related Report
      2014 Annual Research Report
  • [Presentation] ICF症候群2014

    • Author(s)
      釜江智佳子
    • Organizer
      第7回日本免疫不全症研究会
    • Place of Presentation
      福岡市
    • Related Report
      2013 Research-status Report
  • [Remarks] PIDJ(Primary Immunodeficiency Database in Japan)

    • URL

      http://pidj.rcai.riken.jp/

    • Related Report
      2013 Research-status Report

URL: 

Published: 2014-07-25   Modified: 2019-07-29  

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