Elucidation of pathophysiology of novel hyper-IgE syndrome

• Project/Area Number: 16K15529
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: The University of Tokushima
• Principal Investigator: MINEGISHI Yoshiyuki 徳島大学, 先端酵素学研究所(プロテオ), 教授 (10343154)
• Project Period (FY): 2016-04-01 – 2017-03-31
• Project Status: Completed (Fiscal Year 2016)
• Budget Amount: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000); Fiscal Year 2016: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
• Keywords: 免疫不全症 / 原発性免疫不全症 / 高IgE症候群

Outline of Final Research Achievements

Hyper IgE syndrome is primary immunodeficiency disorder, which complicates severe atopic dermatitis, marked hyper IgE-emia, Staphylococcus aureus infection, and osteoporosis. In many cases, pulmonary lesions progress from the early postnatal day, culminating to in the Aspergillus infections to pulmonary cysts. We revealed that its major etiology is dominant negative mutation of the STAT3 gene, Still, there are many genetic patients with hyper IgE syndromes in which causal genes are unidentified. Thus, in this study, we analyzed with the next generation sequencer approximately 100 cases and found new causative variants.

Research Products

• [Journal Article] IgE産生とその調節 (2016)
  • Author(s): 峯岸克行
  • Journal Title: アレルギー・免疫 Volume: 23 Pages: 40-45
• [Journal Article] 高IgE症候群 (2016)
  • Author(s): 峯岸克行
  • Journal Title: 小児内科 Volume: 48 Pages: 1652-1654
• [Journal Article] Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets (2016)
  • Author(s): Ma CS, Wong N, Rao G, Nguyen A, Avery DT, Payne K, Torpy J, O'Young P, Deenick E, Bustamante J, Puel A, Okada S, Kobayashi M, Martinez-Barricarte R, Elliott M, Sebnem Kilic S, El Baghdadi J, Minegishi Y, Bousfiha A, Robertson N, et al.
  • Journal Title: J Exp Med. Volume: 213 Issue: 8 Pages: 1589-608
  • DOI: 10.1084/jem.20151467
  • NAID: 120006959745
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Hyper-IgE syndrome with a novel mutation of the STAT3 gene. (2016)
  • Author(s): Minakawa S, Tanaka H, Kaneko T, Matsuzaki Y, Kono M, Akiyama M, Minegishi Y, Sawamura D.
  • Journal Title: Clin Exp Dermatol Volume: 41 Issue: 6 Pages: 687-689
  • DOI: 10.1111/ced.12865
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Presentation] Dysregulated IgE response in a mouse model of hyper-IgE syndrome attributed to B cell-intrinsic abnormality caused by Stat3 mutation (2016)
  • Author(s): Nishikawa Y, Wada T, Minegishi Y
  • Organizer: The 45th annual meeting of the Japanese society for immunology
  • Place of Presentation: 沖縄コンベンションセンター（沖縄・宜野湾市）
  • Year and Date: 2016-12-05
• [Presentation] Basophil promote oxazolone-induced atopic dermatitis in mouse model of hyper-IgE syndrome (2016)
  • Author(s): Wada T, Nishikawa Y, Minegishi Y
  • Organizer: The 45th annual meeting of the Japanese society for immunology
  • Place of Presentation: 沖縄コンベンションセンター（沖縄・宜野湾市）
  • Year and Date: 2016-12-05
• [Presentation] Molecular pathogenesis of hyper-IgE syndrome (2016)
  • Author(s): Minegishi Y
  • Organizer: The 26th Hot Spring Harbor International Symposium Trans-Omics
  • Place of Presentation: 九州大学（福岡・福岡市）
  • Year and Date: 2016-11-02