Pathogenesis and clinical course of primary antibody deficiency

2010 Fiscal Year Final Research Report

• Project/Area Number: 20591250
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Gifu University
• Principal Investigator: KANEKO Hideo Gifu University, 大学院・医学系研究科, 教授 (80293554)
• Project Period (FY): 2008 – 2010
• Keywords: 高IgM症候群 / activation induced cytidine deaminase / R190X変異 / Dominant negative mutation / 体細胞突然変異

Research Abstract

The pattern of serum Ig level were different between mother and daughter with same AID mutation (R190X). The immune phenotype of HIGM2 (R190X) might be affected by the environmental factors or the other genetic factors. In HIGM2 (R190X), specific antibody of IgM class was expressed for long time by IgM memory B cells, in which have done somatic hypermutation. In HIGM2 (R190X), some B cell could switched IgM to IgG. This switched B cell might not survive for long time and IgG antibody might become disappeared.

Research Products

• [Journal Article] Efficacy of the slow dose-up method for specific oral tolerance induction in children with cow's milk allergy : Comparison with reported protocols. (2010)
  • Author(s): Kaneko H, Teramoto T, Kondo M, Morita H, Ohnishi H, Orii K, Matsui E, Kondo N.
  • Journal Title: J investing allergol clin immunol 20 Pages: 538-539
  • Peer Reviewed
• [Journal Article] Relationship between the benefits of suplatast tosilate, a Th2 cytokine inhibitor, and gene polymorphisms in children with bronchial asthma. (2010)
  • Author(s): Matsui E, Shinoda S, Fukutomi O, Kaneko H_, Fukao T, Kondo N
  • Journal Title: Exp Ther Med 1 Pages: 977-982
  • Peer Reviewed
• [Journal Article] Pharmacogenetics of asthma in children. (2010)
  • Author(s): Kondo N, Matsui E, Nishimura A, Kaneko H.
  • Journal Title: Allergy Asthma Immunol Res. 2 Pages: 14-19
  • Peer Reviewed
• [Journal Article] Reversible cerebrospinal fluid edema and porencephalic cyst, a rare complication of ventricular catheter. (2010)
  • Author(s): Ozeki M, Funato M, Teramoto T, Ohe N, Asano T, Kaneko H, Fukao T, Kondo N.
  • Journal Title: J Clin Neurosci. 17 Pages: 658-661
  • Peer Reviewed
• [Journal Article] A family having type 2B von Willebrand disease with an R1306W mutation : Severe thrombocytopenia leads to the normalization of high molecular weight multimers. (2010)
  • Author(s): Ozeki M, Kunishima S, Kasahara K, Funato M, Teramoto T, Kaneko H, Fukao T, Kondo N.
  • Journal Title: Thromb Res. 125 Pages: 17-22
  • Peer Reviewed
• [Journal Article] Diagnostic approach for the autoinflammatory syndromes based on the molecular mechanism of innate immunity. (2009)
  • Author(s): Ohnishi H, Kato Z, Teramoto T, Funato M, Kaneko H, Fukao T, Kondo N.
  • Journal Title: Arerugi.(Review. Japanese.) 58 Pages: 1502-1512
  • Peer Reviewed
• [Journal Article] Congenital inner ear malformations without sensorineural hearing loss in children. (2009)
  • Author(s): Ozeki M, Kato Z, Sasai H, Kubota K, Funato M, Orii K, Kaneko H, Fukao T, Kondo N.
  • Journal Title: Int J Pediatr Otorhinolaryngol.(Epub ahead of print)
  • Peer Reviewed
• [Journal Article] Oral administration of the thyrotropin-releasing hormone (TRH) analogue, taltireline hydrate, in spinal muscular atrophy. (2009)
  • Author(s): Kato Z, Okuda M, Okumura Y, Arai T, Teramoto T, Nishimura M, Kaneko H Kondo N.
  • Journal Title: J Child Neurol. 24 Pages: 1010-1012
  • Peer Reviewed
• [Journal Article] Translocation (1;10)(p34;p15)in infant acute myeloid leukemia with extramedullary infiltration in multiple sites. (2009)
  • Author(s): Funato M, Fukao T, Sasai H, Hori T, Terazawa D, Ozeki M, Orii K, Teramoto T, Kaneko H, Kondo N.
  • Journal Title: Cancer Genet Cytogenet. 192 Pages: 86-89
  • Peer Reviewed
• [Journal Article] IgA subclass and IgA deficiency. (2009)
  • Author(s): Kaneko H, Suzuki H, Kondo N.
  • Journal Title: Nihon Rinsho Meneki Gakkai Kaishi.(Review. Japanese.) 32 Pages: 142-148
  • Peer Reviewed
• [Journal Article] Diffuse large B-cell lymphoma presenting with osteolytic lesions in the bilateral femur. (2009)
  • Author(s): Funato M, Kato H, Sasai H, Kubota K, Ozeki M, Kato Z, Kaneko H, Fukao T, Kondo N.
  • Journal Title: Eur J Haematol. 83 Pages: 502
  • Peer Reviewed
• [Journal Article] Primary immunodeficiency diseases caused by defects in innate immunity : update.(Review.Japanese) (2009)
  • Author(s): Tokumi T, Ohnishi H, Kaneko H, Kato Z, Kondo N.
  • Journal Title: Arerugi. 58(1) Pages: 19-28
  • Peer Reviewed
• [Journal Article] Various expression patterns of alphal and alpha2 genes in IgA deficiency. (2009)
  • Author(s): Suzuki H, Kaneko H, Fukao T, Jin R, Kawamoto N, Asano T, Matsui E, Kasahara K, Kondo N.
  • Journal Title: Allergol Int. 58 Pages: 111-117
  • Peer Reviewed
• [Journal Article] Age-related changes of transforming growth factor betal in Japanese children. (2009)
  • Author(s): Morimoto M, Matsui E, Kawamoto N, Sakurai S, Kaneko H, Fukao T, Iwasa S, Shiraki M, Kasahara K, Kondo N.
  • Journal Title: Allergol Int. 58 Pages: 97-102
  • Peer Reviewed
• [Journal Article] hypothermia augments NF-kappaB activity and the production of IL-12 and IFN-gamma (2008)
  • Author(s): Arai T, Kaneko H, Ohnishi H, Matsui E, Fukao T, Kawamoto N, Kasahara K, Kondo N.
  • Journal Title: Allergol Int. 57 Pages: 331-338
  • Peer Reviewed
• [Journal Article] Anaphylactoid transfusion reactions associated with a positively charged white-cell reduction filter : a case report. (2008)
  • Author(s): Funato M, Kaneko H, Ozeki M, Kanda K, Fukao T, Kondo N.
  • Journal Title: Transfus Apher Sci. 38 Pages: 199-201
  • Peer Reviewed
• [Journal Article] Protein-losing enteropathy associated with egg allergy in a 5-month-old boy. (2008)
  • Author(s): Kondo M, Fukao T, Omoya K, Kawamoto N, Aoki M, Teramoto T, Kaneko H, Kondo N.
  • Journal Title: J Investig Allergol Clin Immunol. 18 Pages: 63-66
  • Peer Reviewed
• [Journal Article] The response of bovine beta-lactoglobulin-specific T-cell clones to single amino acid substitution of T-cell core epitope. (2008)
  • Author(s): Kondo M, Kaneko H, Fukao T, Suzuki K, Sakaguchi H, Shinoda S, Kato Z, Matsui E, Teramoto T, Nakano T, Kondo N.
  • Journal Title: Pediatr Allergy Immunol. 19 Pages: 592-598
  • Peer Reviewed
• [Journal Article] Age-related changes in BAFF and APRTIL profiles and upregulation of BAFF and APRIL expression in patients with primary antibody deficiency. (2008)
  • Author(s): Jin R, Kaneko H, Suzuki H, Arai T, Teramoto T, Fukao T, Kondo N.
  • Journal Title: Int J Mol Med. 21 Pages: 233-238
  • Peer Reviewed
• [Journal Article] A novel polymorphism, E254K, in the 5-lipoxygenase gene associated with bronchial asthma. (2008)
  • Author(s): Bai C, Matsui E, Ohnishi H, Kimata K, Kasahara K, Kaneko H, Kato Z, Fukao T, Kondo N.
  • Journal Title: Int J Mol Med. 21 Pages: 139-144
  • Peer Reviewed
• [Journal Article] Induction of α1 and α2 gene expression in selective immunoglobulin A deficiency. (2008)
  • Author(s): Suzuki H, Kaneko H, Rong J, Kawamoto N, Asano T, Matsui E, Kasahara K, Fukao T, Kondo N.
  • Journal Title: Molecular Medicine Reports 1 Pages: 395-399
  • Peer Reviewed
• [Journal Article] Acute mumps cerebellitis with abnormal findings in MRI diffusion-weighted images. (2008)
  • Author(s): Matsukuma E, Kaneko H, (他6名)
  • Journal Title: Eur J Pediatr. 167 Pages: 829-830
  • Peer Reviewed
• [Presentation] Bloom症候群の実態調査と診断指針の策定の試み (2011)
  • Author(s): 金子英雄、深尾敏幸、谷内江昭宏、清河信敬、滝田順子、内田靖、近藤直実
  • Organizer: 第4回日本免疫不全症研究会
  • Place of Presentation: 福岡
  • Year and Date: 2011-01-22
• [Presentation] Expression and purification of recombinant soybean protein P34 and its clinical application. (2010)
  • Author(s): Kaneko H, Morita H, Ohnishi H, Kato Z, Matsui E, Kondo N
  • Organizer: The 8th Asia Pacific Congress of Allergy, Asthma and Clinical Immunology November
  • Place of Presentation: Singapore
  • Year and Date: 2010-11-08
• [Presentation] Case reports of atypical periodic autoinflammatory syndrome associated with MEFV exon3 and NLRP3 exon5 gene mutations in Japanese children. (2010)
  • Author(s): Kubota K, Ohnishi H, Teramoto T, Matsui E, E, Kaneko H, Kondo N
  • Organizer: The 8th Asia Pacific Congress of Allergy, Asthma and Clinical Immunology, November
  • Place of Presentation: Singapore
  • Year and Date: 2010-11-08
• [Presentation] Various expression patterns of alphal and alpha2 genes in IgA deficiency. (2010)
  • Author(s): Kaneko H, Suzuki H, Kondo N
  • Organizer: 14th Workshop International Congress of Immunology.
  • Place of Presentation: August, Kobe, Japan
  • Year and Date: 2010-08-25
• [Book] volume 1 Allergy Frontiers : Epigenetics, Allergens and Risk Factors(Allergy Frontiers)(In : Pawankar R, Holgate ST, Rossenwasser LJ eds.) (2009)
  • Author(s): Kondo N, Matsui E, Kaneko H, Fukao T, Teramoto T, Kato Z, Ohnishi H, Nishimura A : Genetics of Pediatric Asthma.
  • Total Pages: 189-203