Hirokazu Kanegane

Summary

Affiliation: University of Toyama
Country: Japan

Publications

  1. doi request reprint Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency
    Hirokazu Kanegane
    Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan
    Pediatr Transplant 17:E29-32. 2013
  2. doi request reprint Clinical features and outcome of X-linked lymphoproliferative syndrome type 1 (SAP deficiency) in Japan identified by the combination of flow cytometric assay and genetic analysis
    Hirokazu Kanegane
    Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan
    Pediatr Allergy Immunol 23:488-93. 2012
  3. pmc Characterization of Epstein-Barr virus (EBV)-infected cells in EBV-associated hemophagocytic lymphohistiocytosis in two patients with X-linked lymphoproliferative syndrome type 1 and type 2
    Xi Yang
    Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Toyama, Japan
    Herpesviridae 3:1. 2012
  4. pmc Chemokine receptor expression and functional effects of chemokines on B cells: implication in the pathogenesis of rheumatoid arthritis
    Toshihiro Nanki
    Department of Medicine, Graduate School, Tokyo Medical and Dental University, 1 5 45, Yushima, Bunkyo ku, Tokyo, 113 8519, Japan
    Arthritis Res Ther 11:R149. 2009
  5. ncbi request reprint Distinct clones are associated with the development of transient myeloproliferative disorder and acute megakaryocytic leukemia in a patient with Down syndrome
    Hirokazu Kanegane
    Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan
    Int J Hematol 86:250-2. 2007
  6. doi request reprint Spontaneous regression of aleukemic leukemia cutis harboring a NPM/RARA fusion gene in an infant with cutaneous mastocytosis
    Hirokazu Kanegane
    Department of Pediatrics, Graduate School of Medicine, University of Toyama, 2630 Sugitani, Toyama, 930 0194, Japan
    Int J Hematol 89:86-90. 2009
  7. ncbi request reprint Novel mutations in a Japanese patient with CD19 deficiency
    H Kanegane
    Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan
    Genes Immun 8:663-70. 2007
  8. ncbi request reprint A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome
    Hirokazu Kanegane
    Department of Pediatrics, Graduate School of Medicine, University of Toyama, 2630 Sugitani, Toyama, 930 0194, Japan
    Eur J Pediatr 167:245-7. 2008
  9. ncbi request reprint Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype-phenotype correlations
    Taketoshi Yoshida
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Toyama 930 0194, Japan
    Blood Cells Mol Dis 30:184-93. 2003
  10. ncbi request reprint Risk factors for poor outcome in congenital cytomegalovirus infection and neonatal herpes on the basis of a nationwide survey in Japan
    Yoshinori Ito
    Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Pediatr Int 55:566-71. 2013

Detail Information

Publications88

  1. doi request reprint Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency
    Hirokazu Kanegane
    Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan
    Pediatr Transplant 17:E29-32. 2013
    ..These results suggest that BMT with RIC may sufficiently restore immune regulation in delayed-onset ADA deficiency. A longer follow-up period is needed to confirm these observations...
  2. doi request reprint Clinical features and outcome of X-linked lymphoproliferative syndrome type 1 (SAP deficiency) in Japan identified by the combination of flow cytometric assay and genetic analysis
    Hirokazu Kanegane
    Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan
    Pediatr Allergy Immunol 23:488-93. 2012
    ..The prognosis of XLP is very poor, and hematopoietic stem cell transplantation (HSCT) is the only curative therapy. We characterized the clinical features and outcome of Japanese patients with XLP-1...
  3. pmc Characterization of Epstein-Barr virus (EBV)-infected cells in EBV-associated hemophagocytic lymphohistiocytosis in two patients with X-linked lymphoproliferative syndrome type 1 and type 2
    Xi Yang
    Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Toyama, Japan
    Herpesviridae 3:1. 2012
    ..abstract:..
  4. pmc Chemokine receptor expression and functional effects of chemokines on B cells: implication in the pathogenesis of rheumatoid arthritis
    Toshihiro Nanki
    Department of Medicine, Graduate School, Tokyo Medical and Dental University, 1 5 45, Yushima, Bunkyo ku, Tokyo, 113 8519, Japan
    Arthritis Res Ther 11:R149. 2009
    ..The aims of this study were to determine chemokine receptor expression by B cells both in the peripheral blood of normal donors and subjects with RA, and at the inflammatory site in RA, and the effects of chemokines on B cell activation...
  5. ncbi request reprint Distinct clones are associated with the development of transient myeloproliferative disorder and acute megakaryocytic leukemia in a patient with Down syndrome
    Hirokazu Kanegane
    Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan
    Int J Hematol 86:250-2. 2007
    ..Distinct clones were associated with the development of TMD and AMKL in this patient...
  6. doi request reprint Spontaneous regression of aleukemic leukemia cutis harboring a NPM/RARA fusion gene in an infant with cutaneous mastocytosis
    Hirokazu Kanegane
    Department of Pediatrics, Graduate School of Medicine, University of Toyama, 2630 Sugitani, Toyama, 930 0194, Japan
    Int J Hematol 89:86-90. 2009
    ....
  7. ncbi request reprint Novel mutations in a Japanese patient with CD19 deficiency
    H Kanegane
    Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan
    Genes Immun 8:663-70. 2007
    ..These findings extend the mutation spectrum of the CD19 deficiency to four, and confirm the homogeneity of the CD19 deficiency as a unique type of CVID...
  8. ncbi request reprint A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome
    Hirokazu Kanegane
    Department of Pediatrics, Graduate School of Medicine, University of Toyama, 2630 Sugitani, Toyama, 930 0194, Japan
    Eur J Pediatr 167:245-7. 2008
  9. ncbi request reprint Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype-phenotype correlations
    Taketoshi Yoshida
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Toyama 930 0194, Japan
    Blood Cells Mol Dis 30:184-93. 2003
    ..This makes an interesting contrast to the case of familial and sporadic leukemias mediated by RUNX1 mutations, in which mutants acting in a dominant negative manner have been suggested to confer a higher propensity to develop leukemia...
  10. ncbi request reprint Risk factors for poor outcome in congenital cytomegalovirus infection and neonatal herpes on the basis of a nationwide survey in Japan
    Yoshinori Ito
    Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Pediatr Int 55:566-71. 2013
    ..Congenital cytomegalovirus (CMV) infection and neonatal herpes are major mother-to-child infections, and analyses of the important clinical issues, including risk factors for prognosis, are essential...
  11. doi request reprint Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry
    Meina Zhao
    Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan
    Cytometry B Clin Cytom 80:8-13. 2011
    ....
  12. doi request reprint Identification of FOXP3-negative regulatory T-like (CD4(+)CD25(+)CD127(low)) cells in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
    Keisuke Otsubo
    Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan
    Clin Immunol 141:111-20. 2011
    ..These results suggest that genetically altered FOXP3 can drive the generation of functionally immature Treg cells, but that intact FOXP3 is necessary for the complete function of Treg cells...
  13. ncbi request reprint Toll-like receptor signaling is impaired in dendritic cells from patients with X-linked agammaglobulinemia
    Hiromichi Taneichi
    Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan
    Clin Immunol 126:148-54. 2008
    ..These findings suggest that BTK may thus be required for TLR signaling in DCs. The impaired TLR signaling in DCs may therefore be partly responsible for the occurrence of severe infections with bacteria and some viruses in XLA patients...
  14. doi request reprint Nationwide survey of bisphosphonate therapy for children with reactivated Langerhans cell histiocytosis in Japan
    Akira Morimoto
    Department of Pediatrics, Jichi Medical University School of Medicine, Shimotsuke, Japan
    Pediatr Blood Cancer 56:110-5. 2011
    ..Several studies have suggested that Langerhans cell histiocytosis (LCH) is responsive to treatment with bisphosphonates (BPs). However the efficacy and safety of BPs therapy for childhood LCH is unknown...
  15. doi request reprint Continuous and high-dose cytarabine combined chemotherapy in children with down syndrome and acute myeloid leukemia: Report from the Japanese children's cancer and leukemia study group (JCCLSG) AML 9805 down study
    Takashi Taga
    Department of Pediatrics, Shiga University of Medical Science, Japan
    Pediatr Blood Cancer 57:36-40. 2011
    ..The aim of the JCCLSG AML 9805 Down study was to evaluate the effect of continuous and high-dose cytarabine combined chemotherapy on the survival outcome of acute myeloid leukemia (AML) with Down syndrome (DS)...
  16. doi request reprint Platelet-derived growth factor may be associated with fibrosis in a Down syndrome patient with transient myeloproliferative disorder
    Jiro Ogawa
    Department of Pediatrics, University of Toyama, Toyama, Japan
    Eur J Haematol 81:58-64. 2008
    ..The finding indicates that the PDGF pathway may play an important role in the fibrosis of several organs in patients with TMD...
  17. doi request reprint Molecular characterization of two novel VEGFR3 mutations in Japanese families with Milroy's disease
    Takeshi Futatani
    Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan
    Pediatr Int 50:116-8. 2008
  18. doi request reprint Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis
    Hideyuki Nakaoka
    Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, 2630 Sugitani, Toyama, Toyama 930 0194, Japan
    Int J Hematol 95:692-6. 2012
    ..The ADEM in this patient may be a presentation of delayed onset adenosine deaminase deficiency...
  19. doi request reprint Naturally occurring oncogenic GATA1 mutants with internal deletions in transient abnormal myelopoiesis in Down syndrome
    Tsutomu Toki
    Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki 036 8562, Japan
    Blood 121:3181-4. 2013
    ..These results indicate that the internally deleted regions play important roles in megakaryocyte proliferation and that perturbation of this mechanism is involved in the pathogenesis of TAM...
  20. ncbi request reprint Severe neutropenia in Japanese patients with x-linked agammaglobulinemia
    Hirokazu Kanegane
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan
    J Clin Immunol 25:491-5. 2005
    ..These results suggest that, in some cases, severe bacterial infections in XLA patients might be caused not only by antibody deficiencies but also by neutropenia...
  21. ncbi request reprint X-linked lymphoproliferative syndrome presenting with systemic lymphocytic vasculitis
    Hirokazu Kanegane
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Toyama, Japan
    Am J Hematol 78:130-3. 2005
    ..However, immunohistochemical examination showed that EBV-infected cells were not identifiable in the vessels. We propose that T-cell-mediated immune dysregulation in XLP can cause vasculitis by EBV infection-unrelated mechanism...
  22. ncbi request reprint Proposed guidelines for diagnosing chronic active Epstein-Barr virus infection
    Motohiko Okano
    Department of Pediatrics, Hokkaido University Hospital, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Am J Hematol 80:64-9. 2005
    ..Guidelines, derived mainly from the current literature and recent experiences with CAEBV in Japan, for diagnosing CAEBV are proposed to clarify this enigmatic disease...
  23. ncbi request reprint [Primary immunodeficiencies--agammaglobulinemia--a new trend in diagnosis and treatment]
    Toshio Miyawaki
    Department of Pediatrics, Faculty of Medicine, University of Toyama
    Nihon Rinsho 68:1197-203. 2010
    ..However, diagnostic delay in these disorders remains a problem. In this article, we will discuss the pathogenesis, diagnosis, and treatment of primary antibody deficiency syndromes, with some attention to recent advances in this field...
  24. doi request reprint The landscape of somatic mutations in Down syndrome-related myeloid disorders
    Kenichi Yoshida
    1 Cancer Genomics Project, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan 2 Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan 3
    Nat Genet 45:1293-9. 2013
    ....
  25. doi request reprint Clinical characteristics and outcomes of chédiak-Higashi syndrome: a nationwide survey of Japan
    Kozo Nagai
    Department of Pediatrics, Ehime University Graduate School of Medicine, Toon, Japan
    Pediatr Blood Cancer 60:1582-6. 2013
    ..Recently, several clinical CHS phenotypes have been reported. Here, we report results of a nationwide survey performed to clarify clinical characteristics and outcomes of CHS patients in Japan...
  26. ncbi request reprint Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan
    Hiromichi Taneichi
    Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan
    Int J Hematol 84:60-2. 2006
    ..In addition, presumed SDS patients without SBDS mutations may be included in other disorders...
  27. doi request reprint Clinical and genetic characteristics of XIAP deficiency in Japan
    Xi Yang
    Department of Pediatrics, Graduate School of Medicine, University of Toyama, 2630 Sugitani, Toyama, 930 0194, Japan
    J Clin Immunol 32:411-20. 2012
    ..These results in our Japanese cohort are compatible with previous studies, confirming the clinical characteristics of XIAP deficiency...
  28. doi request reprint Nationwide survey of patients with primary immunodeficiency diseases in Japan
    Masataka Ishimura
    Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3 1 1 Maidashi, Higashi ku, Fukuoka, 812 8582, Japan
    J Clin Immunol 31:968-76. 2011
    ..Close monitoring and appropriate management for these complications in addition to prevention of infectious diseases is important for improving the quality of life of PID patients...
  29. doi request reprint Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia
    Rika Kanezaki
    Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
    Blood 116:4631-8. 2010
    ..001) and lower white blood cell counts (P = .004). Our study indicates that quantitative differences in mutant protein levels have significant effects on the phenotype of TAM and warrants further investigation in a prospective study...
  30. doi request reprint A novel immunoregulatory protein in human colostrum, syntenin-1, for promoting the development of IgA-producing cells from cord blood B cells
    Mostafa M Sira
    Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, 2630 Sugitani, Toyama, Toyama 930 0194, Japan
    Int Immunol 21:1013-23. 2009
    ..Moreover, we demonstrated that recombinant syntenin-1 could induce preferentially IgA production from naive B cells. These results suggest that syntenin-1 serves as one of IgA-inducing factors for B cells...
  31. ncbi request reprint Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
    Yuya Hashimura
    Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan
    Pediatr Nephrol 24:1181-6. 2009
    ..This is the first report of IPEX syndrome complicated by MCNS, and our findings imply that Treg cell dysfunction may be crucial for the development of MCNS...
  32. ncbi request reprint [Intravenous immunoglobulin replacement therapy in X-linked agammaglobulinemia]
    Hirokazu Kanegane
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, 2630, Toyama Sugitani 930 0194, Japan
    Nihon Rinsho Meneki Gakkai Kaishi 25:337-43. 2002
    ..A few patients, despite the maintenance of higher trough levels, were associated with infections. The present study suggests that IVIG should be administered dependent on personal infection histories...
  33. doi request reprint ETV6-ARNT fusion in a patient with childhood T lymphoblastic leukemia
    Keisuke Otsubo
    Department of Pediatrics, University of Toyama, Japan
    Cancer Genet Cytogenet 202:22-6. 2010
    ..To our knowledge, the current report is novel in its report of the ETV6-ARNT fusion in childhood T-ALL. The ETV6-ARNT fusion is associated not only with AML but also with T-ALL...
  34. ncbi request reprint X-linked agammaglobulinemia diagnosed in adulthood: a case report
    Takeki Mitsui
    Department of Medicine and Clinical Science, Graduate School of Medicine, Gunma University, Maebashi, Japan
    Int J Hematol 84:154-7. 2006
    ..Sequencing of the BTK. gene revealed a missense mutation (230C>T,T33I). Given this data, this patient was diagnosed as having rare, late onset XLA with a missense mutation in the BTK gene...
  35. ncbi request reprint Autoimmune lymphoproliferative syndrome presenting with glomerulonephritis
    Hirokazu Kanegane
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, 2630 Sugitani, Toyama 930 0194, Toyama, Japan
    Pediatr Nephrol 18:454-6. 2003
    ..Corticosteroid therapy ameliorated the glomerulonephritis in our patient, as well as his lymphoproliferation, anemia, and hypergammaglobulinemia. This study suggests that glomerulonephritis is one of the characteristic features of ALPS...
  36. doi request reprint Infliximab reduces the cytokine-mediated inflammation but does not suppress cellular infiltration of the vessel wall in refractory Kawasaki disease
    Keiichi Hirono
    Department of Pediatrics, University of Toyama, Toyama City, Toyama, Japan
    Pediatr Res 65:696-701. 2009
    ....
  37. ncbi request reprint Developmental changes of FOXP3-expressing CD4+CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations
    Tatsuya Fuchizawa
    Department of Pediatrics, Graduate School of Medicine, University of Toyama, 2630 Sugitani, Toyama 930 0194, Japan
    Clin Immunol 125:237-46. 2007
    ..This observation suggests a possible genotype-phenotype correlation in IPEX...
  38. doi request reprint Autoimmune lymphoproliferative syndrome mimicking chronic active Epstein-Barr virus infection
    Keiko Nomura
    Department of Pediatrics, Graduate School of Medicine, University of Toyama, 2630 Sugitani, Toyama, Toyama 930 0194, Japan
    Int J Hematol 93:760-4. 2011
    ..These observations, which indicate that the clinical development of ALPS may be associated with EBV infection, alert us to a potential diagnostic pitfall of CAEBV...
  39. doi request reprint Clinicoepidemiologic status of mother-to-child infections: a nationwide survey in Japan
    Yuka Torii
    Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Pediatr Infect Dis J 32:699-701. 2013
    ..Cytomegalovirus was the most common congenital pathogen in Japan, although most infants with congenital cytomegalovirus infection may remain undiagnosed. ..
  40. doi request reprint Allogeneic bone marrow transplantation appears to ameliorate IgA nephropathy in a patient with X-linked thrombocytopenia
    Akihiro Hoshino
    Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, 2630 Sugitani, Toyama, 930 0194, Japan
    J Clin Immunol 34:53-7. 2014
    ..The amount of galactose-deficient IgA in the patient's serum markedly decreased after BMT. Therefore, immunological reconstitution might improve autoimmune diseases in patients with WAS/XLT. ..
  41. doi request reprint Giardiasis in a patient undergoing chemotherapy for retinoblastoma and acute myelogenous leukemia
    Keisuke Otsubo
    Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan
    Pediatr Int 55:524-7. 2013
    ..Giardiasis should be tested for in patients with severe and persistent diarrhea during chemotherapy, when other etiologies have been excluded. PCR used to amplify the DNA of G. intestinalis is rapid and sensitive. ..
  42. ncbi request reprint Discordant endocrinopathy in a sibling with shwachman-diamond syndrome
    Hisashi Kawashima
    Department of Pediatrics, Tokyo Medical University, Nishisinjuku, Tokyo, Japan
    J Trop Pediatr 52:445-7. 2006
  43. ncbi request reprint MxA-based recognition of viral illness in febrile children by a whole blood assay
    Motokazu Nakabayashi
    Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama 930 0194, Japan
    Pediatr Res 60:770-4. 2006
    ..Whole blood assay of MxA is a clinically useful tool for diagnosing viral illness in febrile children and should help reduce use of unnecessary antibiotics...
  44. ncbi request reprint Membranoproliferative glomerulonephritis in a patient with X-linked agammaglobulinemia
    Atsunori Yoshino
    Department of Pediatrics, Dokkyo University School of Medicine Koshigaya Hospital, 2 1 50 Minamikoshigaya Koshigaya, 343 8555 Saitama, Japan
    Pediatr Nephrol 21:36-8. 2006
    ..Although it is unclear how MPGN occurred in this XLA patient, we suggest that residual humoral immunity in the patient could be associated with the development of MPGN...
  45. ncbi request reprint Female agammaglobulinemia due to the Bruton tyrosine kinase deficiency caused by extremely skewed X-chromosome inactivation
    Hidetoshi Takada
    Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
    Blood 103:185-7. 2004
    ..This is the first report of female XLA caused by heterozygous BTK gene abnormality and extreme nonrandom inactivation of X chromosome on which normal BTK gene is located...
  46. ncbi request reprint [IPEX syndrome and human Treg cells]
    Keisuke Otsubo
    Department of Pediatrics, Graduate School of Medicine, University of Toyama
    Nihon Rinsho Meneki Gakkai Kaishi 33:196-206. 2010
    ..We herein describe the clinical and molecular characteristics of patients with IPEX syndrome and also elucidate the function of human Treg cells...
  47. pmc Efficacy and safety of IgPro20, a subcutaneous immunoglobulin, in Japanese patients with primary immunodeficiency diseases
    Hirokazu Kanegane
    Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan
    J Clin Immunol 34:204-11. 2014
    ..This prospective, multicenter, open-label, single-arm Phase III study evaluated the efficacy, tolerability, and safety of IgPro20 (Hizentra®; L-proline-stabilized 20 % human SCIG) in adult and pediatric Japanese patients with PID...
  48. doi request reprint Therapeutic outcome of multifocal Langerhans cell histiocytosis in adults treated with the Special C regimen formulated by the Japan LCH Study Group
    Akira Morimoto
    Department of Pediatrics, Jichi Medical University School of Medicine, 3311 1 Yakushi ji, Shimotsuke, Tochigi, Japan
    Int J Hematol 97:103-8. 2013
    ..This was particularly evident for patients with multifocal SS disease, but half of those with MS disease also benefited...
  49. doi request reprint Cytokine profiles in children with primary Epstein-Barr virus infection
    Taizo Wada
    Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan
    Pediatr Blood Cancer 60:E46-8. 2013
    ..TNF-α levels were elevated in both diseases. Elevation of those mediators may contribute to the disease pathogenesis of EBV-HLH by activating and inhibiting host immune responses...
  50. doi request reprint Hematopoietic stem cell transplantation with reduced intensity conditioning from a family haploidentical donor in an infant with familial hemophagocytic lymphohistocytosis
    Hideaki Ohta
    Department of Pediatrics, Osaka University Graduate School of Medicine, Yamadaoka 2 2, Suita 565 0871, Japan
    Int J Hematol 94:285-90. 2011
    ..These results suggest that BMT with RIC from a family haploidentical donor may sufficiently restore immune regulation in infants, while lessening treatment-related mortality and long-term sequelae...
  51. ncbi request reprint Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection
    Kentaro Shinozaki
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Toyama, Toyama 930 0194, Japan
    Int Immunol 14:1215-23. 2002
    ..Through this approach, we identified three novel XLP families with SH2D1A mutations in Japan. A flow cytometric assessment of SAP expressed in activated T cells would lead to easy detection of XLP patients...
  52. ncbi request reprint Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome
    Rie Yoshida
    Department of Pediatrics, Keio University School of Medicine, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 89:3359-64. 2004
    ....
  53. ncbi request reprint [Immune response to Epstein-Barr virus]
    Hirokazu Kanegane
    Department of Pediatrics, Faculty of Medicine, University of Toyama
    Nihon Rinsho 64:564-7. 2006
  54. ncbi request reprint Ganciclovir therapy for congenital cytomegalovirus infection in six infants
    Naoko Tanaka-Kitajima
    Department of Pediatrics, Nagoya Memorial Hospital, Japan
    Pediatr Infect Dis J 24:782-5. 2005
    ..Congenital cytomegalovirus (CMV) infection is common, and its morbidity rate is high. Ganciclovir (GCV) treatment has been used for congenital CMV infection, but there are few reports on viral loads associated with GCV therapy...
  55. ncbi request reprint Prognostic factors for chronic active Epstein-Barr virus infection
    Hiroshi Kimura
    Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Infect Dis 187:527-33. 2003
    ..59 vs. 0.87; P<.009). Patients with CAEBV with late onset of disease, thrombocytopenia, and T cell infection had significantly poorer outcomes...
  56. doi request reprint Selective expansion of donor-derived regulatory T cells after allogeneic bone marrow transplantation in a patient with IPEX syndrome
    Satoshi Horino
    Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan Department of Hematology and Oncology, Miyagi Children s Hospital, Sendai, Miyagi, Japan
    Pediatr Transplant 18:E25-30. 2014
    ....
  57. doi request reprint Lymphoproliferative disorders in immunocompromised individuals and therapeutic antibodies for treatment
    Xi Yang
    Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, 2630 Sugitani, Toyama 930 0194, Japan
    Immunotherapy 5:415-25. 2013
    ..The aim of this review is to describe new information concerning mAb treatment in LPDs and to draw physicians' attention to mAb therapy, which should be effective for some types of LPD...
  58. ncbi request reprint Outcome of non-T-cell-depleted HLA-haploidentical hematopoietic stem cell transplantation from family donors in children and adolescents
    Takao Yoshihara
    Department of Pediatrics, Matsushita Memorial Hospital, Moriguchi, Japan
    Int J Hematol 85:246-55. 2007
    ..Our results indicate that non-T-cell-depleted HLA-haploidentical SCT may be feasible, with appropriate GVHD prophylaxis, for young recipients who lack immediate access to a conventional stem cell source...
  59. doi request reprint Cytokine profiles of patients with enterohemorrhagic Escherichia coli O111-induced hemolytic-uremic syndrome
    Masaki Shimizu
    Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Japan
    Cytokine 60:694-700. 2012
    ..Monitoring the cytokine profile may be useful for assessing disease activity of EHEC O111 infections...
  60. doi request reprint SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis
    Xi Yang
    Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan
    Pediatr Int 54:447-54. 2012
    ..This review aims to describe the new knowledge about XLP and to draw the attention of the pediatrician to XLP, which should be differentiated from other forms of HLH...
  61. doi request reprint Clinical significance of cloned expansion and CD5 down-regulation in Epstein-Barr Virus (EBV)-infected CD8+ T lymphocytes in EBV-associated hemophagocytic lymphohistiocytosis
    Akiko Toga
    Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan
    J Infect Dis 201:1923-32. 2010
    ..All together, our findings reveal the immunophenotypic characteristics of EBV-infected CD8(+) T cells and may provide a valuable tool for the diagnosis of EBV-HLH...
  62. ncbi request reprint Role of transforming growth factor-beta in breast milk for initiation of IgA production in newborn infants
    Jiro Ogawa
    Department of Paediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, 2630 Sugitani, Toyama 930 0194, Japan
    Early Hum Dev 77:67-75. 2004
    ....
  63. ncbi request reprint Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia
    Yue Wang
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Toyama, Japan
    Am J Med Genet 108:333-6. 2002
    ..We found an eight-year-old boy with a novel homozygous mutation in the Igalpha gene (IVS2+1G>A) causing B cell defect. This is the second case of agammaglobulinemia due to an Igalpha (CD79a) deficiency in the world...
  64. doi request reprint Minimal residual disease-based augmented therapy in childhood acute lymphoblastic leukemia: a report from the Japanese Childhood Cancer and Leukemia Study Group
    Kazutaka Yamaji
    Department of Pediatrics, Aichi Medical University, Aichi Gun, Aichi Ken, Japan
    Pediatr Blood Cancer 55:1287-95. 2010
    ..The ALL2000 study was performed to evaluate the efficacy of augmented chemotherapy based on MRD-restratification in childhood ALL...
  65. ncbi request reprint Acute lymphoblastic leukemia after living donor liver transplantation
    Taketoshi Yoshida
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Sugitani, Toyama, Japan
    Pediatr Int 47:579-82. 2005
  66. ncbi request reprint Open heart operation in a child with congenital heart disease and hereditary spherocytosis
    Naoki Yoshimura
    First Department of Surgery, Toyama University School of Medicine, Toyama University, Toyama, Japan
    Circ J 70:1655-7. 2006
    ..Open heart surgery can therefore be safely performed in young children with congenital heart disease and hereditary spherocytosis who have not previously undergone splenectomy...
  67. doi request reprint Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction
    Bo Chang
    Department of Pediatrics, Toyama University, Sugitani, Toyama, Japan
    Mol Genet Metab 100:198-203. 2010
    ..Due to the recurrent inheritance of this variant by each of the children we concluded that this was evidence of gonadal mosaicism in the obligate carrier mother, the first reported occurrence of this in Barth syndrome...
  68. doi request reprint Outcome of pediatric patients with Langerhans cell histiocytosis treated with 2 chlorodeoxyadenosine: a nationwide survey in Japan
    Toshihiko Imamura
    Department of Pediatrics, Kyoto Prefectural University of Medicine, Kamigyo ku, Kyoto, Japan
    Int J Hematol 91:646-51. 2010
    ..On the other hand, in the patients having reactivation while off therapy, 6 of 7 patients showed good response. These findings suggest that 2-CdA is effective for reactivated LCH while off therapy...
  69. ncbi request reprint Non-progressive viral myelitis in X-linked agammaglobulinemia
    Kenji Katamura
    Department of Pediatrics, Graduate School of Medicine, Kyoto University, 54 Kawahara cho Shogoin, Sakyo ku 606 8507, Japan
    Brain Dev 24:109-11. 2002
    ..The balance between host immunity and the virulence of the causative virus may be involved in the prognosis of meningoencephalitis in XLA...
  70. doi request reprint Evans syndrome in a patient with Langerhans cell histiocytosis: possible pathogenesis of autoimmunity in LCH
    Yoichiro Tsuji
    Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama 359 0042, Japan
    Int J Hematol 87:75-7. 2008
    ..These results suggest that cytokine imbalance due to LCH led to multiple autoimmune phenomena in the present patient...
  71. doi request reprint A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features
    Kazushi Miya
    Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan
    Gene 506:146-9. 2012
    ..21. This patient exhibited mild developmental delay and distinctive facial findings in addition to hereditary spherocytosis. Thus, some of the genes included in the deleted region would be related to these symptoms...
  72. pmc Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations
    Taketoshi Yoshida
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan
    Am J Hum Genet 71:724-38. 2002
    ..Overall, these results suggest that CCD could result from much smaller losses in the RUNX2 function than has been envisioned on the basis of the conventional haploinsufficiency model...
  73. ncbi request reprint Biological aspects of Epstein-Barr virus (EBV)-infected lymphocytes in chronic active EBV infection and associated malignancies
    Hirokazu Kanegane
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, 2630, Toyama Sugitani 930 0194, Japan
    Crit Rev Oncol Hematol 44:239-49. 2002
    ..CAEBV infections may thus represent a subset of EBV-associated T- and/or NK-cell lymphoproliferative disorders...
  74. doi request reprint Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease
    Takashi Sekine
    Faculty of Medicine, Department of Pediatrics, The University of Tokyo, Tokyo, Japan
    Kidney Int 78:207-14. 2010
    ..Thus, MYH9 R702 mutations display a strict genotype-phenotype correlation, and lead to the rapid deterioration of podocyte structure. Our results highlight the critical role of NMMHC-IIA in the development of FSGS...
  75. ncbi request reprint IgA nephropathy associated with X-linked thrombocytopenia
    Hiro Matsukura
    Department of Pediatrics, Saiseikai Toyama Hospital, Toyama, Japan
    Am J Kidney Dis 43:e7-12. 2004
    ..Altered glycosylation may contribute to renal involvement in patients with WAS/XLT despite different defective glycosylation patterns in IgA nephropathy and WAS/XLT...
  76. doi request reprint X-linked agammaglobulinemia complicated with endobronchial tuberculosis
    Chihiro Kawakami
    Department of Pediatrics, Osaka Medical College, Takatsuki, Osaka, Japan
    Acta Paediatr 100:466-8. 2011
    ..We report a case of X-linked agammaglobulinemia complicated with endobronchial tuberculosis...
  77. doi request reprint Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards
    Yoichi Morinishi
    Department of Pediatrics, National Defense Medical College, Saitama, Japan
    J Pediatr 155:829-33. 2009
    ..To assess the feasibility of T-cell receptor excision circles (TRECs) quantification for neonatal mass screening of severe combined immunodeficiency (SCID)...
  78. doi request reprint Pilomyxoid astrocytoma in a patient presenting with fatal hemorrhage. Case report
    Hideo Hamada
    Department of Neurosurgery, Faculty of Medicine, University of Toyama, Japan
    J Neurosurg Pediatr 1:244-6. 2008
    ..Although emergent external ventricular drainage was performed, the patient died. In this report, the authors review the literature and discuss the clinical features and treatment of pilomyxoid astrocytoma...
  79. ncbi request reprint The radiotoxicity of 131I therapy of thyroid cancer: assessment by micronucleus assay of B lymphocytes
    Naoto Watanabe
    Department of Radiology, Toyama Medical and Pharmaceutical University, Toyama, Japan
    J Nucl Med 45:608-11. 2004
    ..We investigated cytologic radiation damage in thyroid cancer after (131)I therapy using micronucleus assay (MNA) of B lymphocytes exclusively, as opposed to our previous study in which MNA of all lymphocyte subsets was used...
  80. ncbi request reprint Genetic analysis of patients with defects in early B-cell development
    Mary Ellen Conley
    Department of Pediatrics, University of Tennessee College of Medicine, Memphis, TN 38105, USA
    Immunol Rev 203:216-34. 2005
    ..Polymorphic variants in the components of the pre-B cell and B-cell receptor complex, particularly micro heavy chain and lambda5, may contribute to the severity of XLA...
  81. ncbi request reprint [X-linked lymphoproliferative syndrome]
    Hirokazu Kanegane
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University
    Nihon Rinsho Meneki Gakkai Kaishi 25:129-34. 2002
  82. ncbi request reprint Suppressor of cytokine signalling-1 gene silencing in acute myeloid leukaemia and human haematopoietic cell lines
    Dai Watanabe
    Laboratory of Immune Regulation, Osaka University Graduate School of Frontier Biosciences, 1 3 Yamada oka, Suita City, Osaka 565 0871, Japan
    Br J Haematol 126:726-35. 2004
    ..These findings indicate that SOCS-1 is frequently silenced in haematopoietic malignancies, mainly as a result of hypermethylation, and suggest that SOCS-1 may be able to function as a tumour suppressor...
  83. ncbi request reprint Epstein-Barr virus (EBV)-associated post-transplantation lymphoproliferative disorder simultaneously affecting both B and T cells after allogeneic bone marrow transplantation
    Tatsuya Chuhjo
    Cellular Transplantation Biology, Kanazawa University Graduate School of Medical Science, Japan
    Am J Hematol 72:255-8. 2003
    ..This case clearly indicates that EBV can simultaneously infect B and T cells and can induce clonal proliferation of both lymphocyte subsets in severely immunocompromised patients...
  84. doi request reprint Favourable outcomes in children with diffuse large B-cell lymphoma treated by a short-term ALL-like regimen: a report on the NHL960 study from the Japanese Childhood Cancer and Leukemia Study Group
    Masahito Tsurusawa
    Department of Paediatrics, Aichi Medical University, Aichi, Japan
    Leuk Lymphoma 49:734-9. 2008
    ..The 7-year EFS according to the treatment group was 100% for group 1, and 83% +/- 11% for group 2, respectively...
  85. ncbi request reprint Identification of an SH2D1A mutation in a hypogammaglobulinemic male patient with a diagnosis of common variable immunodeficiency
    Asghar Aghamohammadi
    Department of Clinical Pediatric Immunology, Children s Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran
    Int J Hematol 78:45-7. 2003
    ..The results support the notion that the possibility of a SH2D1A gene mutation should be considered in hypogammaglobulinemic male patients before a diagnosis of CVID is made...
  86. pmc Maintenance of serum immunoglobulin G antibodies to Epstein-Barr virus (EBV) nuclear antigen 2 in healthy individuals from different age groups in a Japanese population with a high childhood incidence of asymptomatic primary EBV infection
    Shizuko Harada
    Herpesvirus Laboratory, Department of Virology I, National Institute of Infectious Diseases, Toyama 1 23 1, Shinjuku ku, Tokyo 162 8640, Japan
    Clin Diagn Lab Immunol 11:123-30. 2004
    ..These results suggest that EBNA-2 IgG antibodies evoked in young children by asymptomatic primary EBV infections remain elevated throughout life, probably because of reactivation of latent and/or exogenous EBV superinfection...
  87. ncbi request reprint [Lymphoproliferative disorders caused by hereditary genetic defects]
    Hirokazu Kanegane
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University
    Nihon Rinsho Meneki Gakkai Kaishi 26:311-22. 2003
  88. doi request reprint Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome
    Tomohiko Sato
    Department of Paediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
    Br J Haematol 141:681-8. 2008
    ....