Early diagnosis of systemic junevnile idiopathic arthritis

• Project/Area Number: 15K19623
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Kyushu University
• Principal Investigator: Ishimura Masataka 九州大学, 医学研究院, 助教 (10448417)
• Project Period (FY): 2015-04-01 – 2017-03-31
• Project Status: Completed (Fiscal Year 2016)
• Budget Amount: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000); Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2015: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
• Keywords: 全身型若年性特発性関節炎 / 早期診断 / 遺伝子発現 / 有核赤血球 / 末梢血単核球 / フローサイトメトリー / 赤芽球

Outline of Final Research Achievements

To establish the diagnostic method for systemic idiopathic juvenile arthritis (JIA), we investigated genes specifically expressed in systemic JIA patients by analyzing whole transcriptome using microarray analysis of peripheral blood mononuclear cells (PBMC). The most upregulated genes (ASHP, HBD, CA1) were derived from nucleated red blood cells (nRBC), which indicated the increased number of nRBC in PBMC. The peripheral blood erythroblastosis of systemic JIA patients was confirmed by flow cytometry.
The analysis of nRBC ratio in PBMC by flow cytometry would be helpful for diagnosis of systemic JIA.

Research Products

• [Journal Article] Transient Hemi-Lower Limb Ischemia in the Newborn: Arterial Thrombosis or Persistent Sciatic Artery? (2017)
  • Author(s): Kirino M, Ochiai M, Ichiyama M, Inoue H, Kusuda T, Kinjo T, Ishimura M, Ohga S.
  • Journal Title: AJP Rep. Volume: 7(1) Issue: 01 Pages: 13-16
  • DOI: 10.1055/s-0037-1598044
  • Peer Reviewed / Open Access
• [Journal Article] Activated phosphoinositide 3-kinase δ syndrome presenting with gut-associated T-cell lymphoproliferative disease (2017)
  • Author(s): Teranishi H, Ishimura M, Koga Y, Eguchi K, Sonoda M, Kobayashi T, Shiraishi S, Nakashima K, Ikegami K, Aman M, Yamamoto H, Takada H, Ohga S.
  • Journal Title: Rinsho Ketsueki Volume: 58 Issue: 1 Pages: 20-25
  • DOI: 10.11406/rinketsu.58.20
  • NAID: 130005394596
  • ISSN: 0485-1439, 1882-0824
  • Peer Reviewed
• [Journal Article] The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene. (2017)
  • Author(s): Inoue H, Terachi SI, Uchiumi T, Sato T, Urata M, Ishimura M, Koga Y, Hotta T, Hara T, Kang D, Ohga S.
  • Journal Title: Pediatr Blood Cancer Volume: 2017 Issue: 7 Pages: e26404-e26404
  • DOI: 10.1002/pbc.26404
  • Peer Reviewed
• [Journal Article] A CD57+ CTL degranulation assay effectively identifies familial hemophagocytic lymphohistiocytosis type 3 patients (2017)
  • Author(s): Masayuki Hori, Takahiro Yasumi, Saeko Shimodera, Hirofumi Shibata, Eitaro Hiejima, Hirotsugu Oda, Kazushi Izawa, Tomoki Kawai, Masataka Ishimura, Naoko Nakano, Ryutaro Shirakawa, Ryuta Nishikomori, Hidetoshi Takada, Satoshi Morita, Hisanori Horiuchi, Osamu Ohara, Eiichi Ishii, and Toshio Heike
  • Journal Title: Journal of Clinical Immunology Volume: 37 Issue: 1 Pages: 92-99
  • DOI: 10.1007/s10875-016-0357-3
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] A nationwide survey of common viral infections in childhood among patients with primary immunodeficiency diseases. (2016)
  • Author(s): 12.Nanishi E, Hoshina T, Takada H, Ishimura M, Nishio H, Uehara T, Mizuno Y, Hasegawa S, Ohga S, Nagao M, Igarashi M, Yajima S, Kusumoto Y, Onishi N, Sasahara Y, Yasumi T, Heike T, Hara T, Kumaki S, et al.;
  • Journal Title: J Infect. Volume: 73 Issue: 4 Pages: 358-368
  • DOI: 10.1016/j.jinf.2016.07.018
  • Peer Reviewed
• [Journal Article] Immunoregulatory function of neonatal nucleated red blood cells in humans. (2016)
  • Author(s): Cui L, Takada H, Takimoto T, Fujiyoshi J, Ishimura M, Hara T.
  • Journal Title: Immunobiology. Volume: 221(8) Issue: 8 Pages: 853-61
  • DOI: 10.1016/j.imbio.2016.04.004
  • Peer Reviewed
• [Journal Article] Long-term analysis on immune reconstitution after allogeneic cord blood transplantation without chemotherapy conditioning in patients with severe combined immunodeficiency caused by CD3delta deficiency. (2016)
  • Author(s): Takada H, Ishimura M, Hara T
  • Journal Title: Bone Marrow Transplantation Volume: in press
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Invasive Bacterial Infection in Patients with Interleukin-1 Receptor-associated Kinase 4 Deficiency: Case Report. (2016)
  • Author(s): Takada H, Ishimura M, Takimoto T, Kohagura T, Yoshikawa H, Imaizumi M, Shichijyou K, Shimabukuro Y, Kise T, Hyakuna N, Ohara O, Nonoyama S, Hara T.
  • Journal Title: Medicine (Baltimore) Volume: 95(4) Issue: 4 Pages: e2437-e2437
  • DOI: 10.1097/md.0000000000002437
  • NAID: 120006955924
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report. (2016)
  • Author(s): Yanagi T, Mizuochi T, Takaki Y, Eda K, Mitsuyama K, Ishimura M, Takada H, Shouval DS, Griffith AE, Snapper SB, Yamashita Y, Yamamoto K.
  • Journal Title: BMC Gastroenterol. Volume: 16(1) Pages: 10-10
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] BTK gene targeting by homologous recombination using a helper-dependent adenovirus/adeno-associated virus hybrid vector. (2016)
  • Author(s): Yamamoto H, Ishimura M, Ochiai M, Takada H, Kusuhara K, Nakatsu Y, Tsuzuki T, Mitani K, Hara T.
  • Journal Title: Gene Ther Volume: 23 Issue: 2 Pages: 205-13
  • DOI: 10.1038/gt.2015.91
  • Peer Reviewed / Open Access
• [Journal Article] Fetal hydrocephalus and neonatal stroke as the first presentation of protein C deficiency. (2016)
  • Author(s): Ichiyama M, Ohga S, Ochiai M, Fukushima K, Ishimura M, Torio M, Urata M, Hotta T, Kang D, Hara T.
  • Journal Title: Brain and development Volume: 38(2) Issue: 2 Pages: 253-256
  • DOI: 10.1016/j.braindev.2015.07.004
  • Peer Reviewed / Open Access
• [Presentation] 難治性川崎病と全身型若年性特発性関節炎の鑑別に難渋し、トシリズマブが著効した一例 (2016)
  • Author(s): 園田素史、石村匡崇、江口克秀、鵜池清、山村健一郎、高田英俊 、大賀正一
  • Organizer: 第8回 KOCS小児リウマチ研究会
  • Place of Presentation: 福岡
• [Presentation] 難治性川崎病との鑑別に難渋し、トシリズマブが著効した全身型若年性特発性関節リウマチの一例 (2016)
  • Author(s): 園田素史、豊村大亮、鵜池清、中島康貴、石村匡崇、森鼻栄治、山村健一郎、高田英俊
  • Organizer: 第15回九州川崎病研究会
  • Place of Presentation: 福岡
• [Presentation] 九州における家族性血球貪食症候群(FHL)の現状 (2016)
  • Author(s): 江口克秀、石村匡崇、園田素史、白石暁、興梠雅彦、松本志郎、橋本邦生、高田英俊
  • Organizer: 第119回日本小児科学会学術集会
  • Place of Presentation: 札幌
• [Presentation] 電撃性紫斑病を呈した劇症型溶連菌感染症 (2016)
  • Author(s): 奥園清香、石村匡崇、神野俊介、本村良知、西尾壽乗、高田英俊
  • Organizer: 第119回日本小児科学会学術集会
  • Place of Presentation: 札幌
• [Presentation] 家族性血球貪食性リンパ組織球症(FHL)の診断、治療の課題 (2016)
  • Author(s): 石村匡崇、江口克秀、園田素史、白石暁、興梠雅彦、松本志郎、橋本邦夫、高田英俊、大賀正一
  • Organizer: 第58回日本小児血液・がん学会学術集会
  • Place of Presentation: 東京
• [Presentation] 治療抵抗性Diamond-Blackfan貧血(RPL5変異）で20番染色体長腕欠失を伴うMDSへ進展し、血縁間同種骨髄移植を行った16才女性例 (2015)
  • Author(s): 園田素史、石村匡崇、大賀正一、高田英俊
  • Organizer: 第57回日本小児血液・がん学会
  • Place of Presentation: 山梨
  • Year and Date: 2015-11-27
• [Presentation] 当院で経験したPROC遺伝子の遺伝的背景が異なる電撃性紫斑病の3例 (2015)
  • Author(s): 奥園清香、石村匡崇、二宮崇仁、久保田健介、平田悠一郎、李 守永、賀来典之、神野俊介、西尾壽乗、浦田美扶代、堀田多恵子、高田英俊、大賀正一、原 寿郎
  • Organizer: 第57回日本小児血液・がん学会
  • Place of Presentation: 山梨
  • Year and Date: 2015-11-27
• [Presentation] 薬剤性過敏症症候群が先行し、診断の難渋した血管免疫芽球性T細胞リンパ腫の3歳女児例 (2015)
  • Author(s): 村岡 衛、石村匡崇、安岡和昭、今井崇史、松岡若利、山元裕之、神野俊介、西尾壽乘、古賀友紀、高田英俊、 山元英崇、中司 悠、吉田稚明、大島孝一、原 寿郎
  • Organizer: 第118回日本小児科学会
  • Place of Presentation: 大阪
  • Year and Date: 2015-04-17