H Kanegane

Summary

Affiliation: Toyama Medical and Pharmaceutical University
Country: Japan

Publications

  1. 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
  2. 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
  3. 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
  4. ncbi request reprint Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita
    Hirokazu Kanegane
    Department of Paediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Toyama 930 0194, Japan
    Br J Haematol 129:432-4. 2005
  5. ncbi request reprint Increased cell-free viral DNA in fatal cases of chronic active Epstein-Barr virus infection
    H Kanegane
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan
    Clin Infect Dis 28:906-9. 1999
  6. ncbi request reprint Development of EBV-positive T-cell lymphoma following infection of peripheral blood T cells with EBV
    H Kanegane
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan
    Leuk Lymphoma 34:603-7. 1999
  7. ncbi request reprint EBV-NK cells interactions and lymphoproliferative disorders
    H Kanegane
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan
    Leuk Lymphoma 29:491-8. 1998
  8. ncbi request reprint Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis
    H Kanegane
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan
    J Allergy Clin Immunol 108:1012-20. 2001
  9. pmc Complete arrest from pro- to pre-B cells in a case of B cell-negative severe combined immunodeficiency (SCID) without recombinase activating gene (RAG) mutations
    K Agematsu
    Department of Paediatrics, Shinshu University School of Medicine, Matsumoto 390 8621, Japan
    Clin Exp Immunol 124:461-4. 2001
  10. ncbi request reprint Clinical and virologic characteristics of chronic active Epstein-Barr virus infection
    H Kimura
    Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan
    Blood 98:280-6. 2001

Collaborators

Detail Information

Publications72

  1. 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...
  2. 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...
  3. 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...
  4. ncbi request reprint Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita
    Hirokazu Kanegane
    Department of Paediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Toyama 930 0194, Japan
    Br J Haematol 129:432-4. 2005
    ..Such genetic analysis is useful for the definite diagnosis and genetic counselling of patients...
  5. ncbi request reprint Increased cell-free viral DNA in fatal cases of chronic active Epstein-Barr virus infection
    H Kanegane
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan
    Clin Infect Dis 28:906-9. 1999
    ..None of the healthy controls tested positive. Cell-free circulating EBV DNA may represent an important feature of chronic active EBV infection and may provide a useful tool to monitor the severity of this illness...
  6. ncbi request reprint Development of EBV-positive T-cell lymphoma following infection of peripheral blood T cells with EBV
    H Kanegane
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan
    Leuk Lymphoma 34:603-7. 1999
    ..These studies support an important pathogenetic role of T-cell infection with EBV in chronic active EBV infection and in the EBV-positive T-cell lymphoma that followed...
  7. ncbi request reprint EBV-NK cells interactions and lymphoproliferative disorders
    H Kanegane
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan
    Leuk Lymphoma 29:491-8. 1998
    ..In this report, we summarize recent information on EBV-NK cell interactions and EBV-positive lymphoproliferative disorders of NK cells...
  8. ncbi request reprint Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis
    H Kanegane
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan
    J Allergy Clin Immunol 108:1012-20. 2001
    ..CONCLUSIONS: A diagnostic approach based on flow cytometric assessment for XLA should be initially considered in genetic investigation of antibody deficiencies, regardless of the patient's age...
  9. pmc Complete arrest from pro- to pre-B cells in a case of B cell-negative severe combined immunodeficiency (SCID) without recombinase activating gene (RAG) mutations
    K Agematsu
    Department of Paediatrics, Shinshu University School of Medicine, Matsumoto 390 8621, Japan
    Clin Exp Immunol 124:461-4. 2001
    ..The complete arrest of pro- to pre-B cell development in the SCID patient's bone marrow suggests that some genes involved in V(D)J recombination, excepting the RAG gene, may play a causative role in the immunodeficiency...
  10. ncbi request reprint Clinical and virologic characteristics of chronic active Epstein-Barr virus infection
    H Kimura
    Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan
    Blood 98:280-6. 2001
    ..Over a 68-month period of observation, 10 patients died from hepatic failure, malignant lymphoma, or other causes. Patients with T-cell CAEBV had a shorter survival time than those with NK-cell type of disease...
  11. 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...
  12. ncbi request reprint SH2D1A mutations in Japanese males with severe Epstein-Barr virus--associated illnesses
    R Sumazaki
    Department of Pediatrics, Institute of Clinical Medicine, University of Tsukuba, Japan
    Blood 98:1268-70. 2001
    ..Thus, genetic analysis of the SH2D1A gene is particularly useful in the diagnosis of sporadic cases and carriers of XLP. (Blood. 2001;98:1268-1270)..
  13. ncbi request reprint Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemia
    Y Wang
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Toyama, Japan
    Hum Mutat 18:356. 2001
    ..A consanguinity in three of these families raises the possibility that mutations in other autosomal genes which affect early B cell development may contribute to their phenotype resembling XLA...
  14. ncbi request reprint A novel subpopulation of CD45RA+ CD4+ T cells expressing IL-2 receptor alpha-chain (CD25) and having a functionally transitional nature into memory cells
    H Kanegane
    Department of Pediatrics, School of Medicine, Kanazawa University, Ishikawa, Japan
    Int Immunol 3:1349-56. 1991
    ..The results suggest that CD4+ T cells with the naive (CD45RA+) phenotype expressing IL-2R alpha-chain (CD25) represent the novel transitional population in the maturation process of naive into memory CD4+ T cells...
  15. 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...
  16. ncbi request reprint Neutrophils and mononuclear cells express vascular endothelial growth factor in acute Kawasaki disease: its possible role in progression of coronary artery lesions
    Y Hamamichi
    Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Toyama, Japan
    Pediatr Res 49:74-80. 2001
    ..Neutrophil-derived VEGF may play a role in regulating early vascular responses, whereas PBMC-derived VEGF may contribute to later vascular injury and remodeling...
  17. ncbi request reprint Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway
    K Nomura
    Department of Pediatrics at the Faculty of Medicine, Toyama Medical and Pharmaceutical University, the Toyama Red Cross Hospital, Japan
    Blood 96:610-7. 2000
    ..The results suggest that the genetic defect in XLA may impede the evolution of pro-B cells beyond the earlier pre-B stage into the later stage of pre-B cells in B-cell development. (Blood. 2000;96:610-617)..
  18. 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...
  19. 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...
  20. 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...
  21. 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...
  22. ncbi request reprint Non-Hodgkin's lymphoma of the ascending colon in a patient with becker muscular dystrophy: report of a case
    H Uotani
    Department of Surgery II, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Toyama, Japan
    Surg Today 31:1016-9. 2001
    ..At 13 months after surgery, the CK (37861U/l), AST (110lU/l), ALT (1381U/ l), and LDH (420lU/l) levels are still high, and the patient is doing well without any signs of recurrence...
  23. doi request reprint Long-term results of the Japanese Childhood Cancer and Leukemia Study Group studies 811, 841, 874 and 911 on childhood acute lymphoblastic leukemia
    M Tsurusawa
    Department of Pediatrics, Aichi Medical University, Aichi, Japan
    Leukemia 24:335-44. 2010
    ..4%); hepatitis and short stature were most commonly reported. Reduction of late adverse effects for all patients and development of new treatment strategies for very-high-risk patients are major issues for upcoming trials to address...
  24. 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...
  25. 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
    ....
  26. 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...
  27. 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
  28. 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...
  29. 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...
  30. 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
  31. 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...
  32. 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...
  33. 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
  34. 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...
  35. 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
  36. 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...
  37. ncbi request reprint Epstein-Barr virus-associated T-/natural killer cell lymphoproliferative diseases
    Akihiro Yachie
    Department of Laboratory Sciences, School of Health Sciences, Faculty of Medicine, Kanazawa University, Kanazawa, Japan
    Semin Hematol 40:124-32. 2003
    ..Target cell specificity, defects in host immune responses, and strain differences of EBV may account for ectopic EBV infections and for the unique clinical presentations characteristic of each illness...
  38. ncbi request reprint Outcome in patients with Wiskott-Aldrich syndrome following stem cell transplantation: an analysis of 57 patients in Japan
    Ryoji Kobayashi
    Department of Paediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Br J Haematol 135:362-6. 2006
    ..Given the improved outcome for WAS patients following transplantation from an unrelated donor, we conclude that patients with WAS should receive SCT as soon as possible after diagnosis...
  39. 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...
  40. 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...
  41. 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
  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 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...
  45. 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...
  46. 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...
  47. doi 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...
  48. 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...
  49. 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
    ....
  50. 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...
  51. 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...
  52. ncbi request reprint [Primary immunodeficiency diseases]
    Takeshi Futatani
    Department of Pediatrics, Toyama Medical and Pharmaceutical University
    Nihon Rinsho 63:559-64. 2005
  53. 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...
  54. ncbi request reprint X-linked dyskeratosis congenita in Malaysia
    Alias Hamidah
    Pediatr Blood Cancer 50:432. 2008
  55. 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...
  56. 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...
  57. 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...
  58. 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...
  59. ncbi request reprint X-linked lymphoproliferative disease in an adult
    Takumi Hoshino
    Division of Hematology, Gunmaken Saiseikai Maebashi Hospital, Maebashi, Japan
    Int J Hematol 82:55-8. 2005
    ..In addition, the patient showed type 1 helper T-cell (Th1) skewing, as has been described in Sap knock-out mice. Th1/Th2 imbalance in humans, as well as in mice, may play an important role in the pathogenesis of XLP...
  60. doi request reprint Atypical lymphoproliferative disorder in a patient with X-linked thrombocytopenia
    Keisuke Otsubo
    Pediatr Blood Cancer 51:443-4. 2008
  61. ncbi request reprint Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia
    Sergio Massayuki Tani
    Department of Pediatrics and Center for Investigation in Pediatrics, Faculty of Medical Sciences, State University of Campinas, Campinas, Brazil
    Hum Mutat 20:235-6. 2002
    ..Flow cytometry revealed deficient expression of BTK protein in 10 of the 13 families. This is the first report of the diagnosis of XLA by analysis of mutations of the BTK gene in Brazilian patients...
  62. ncbi request reprint Relapsing Campylobacter coli bacteremia with reactive arthritis in a patient with X-linked agammaglobulinemia
    Ayako Arai
    Department of Hematology, Tokyo Madical and Dental University, Tokyo, Japan
    Intern Med 46:605-9. 2007
    ..Adding oral minocycline following intravenous meropenem was very effective; the stool cultures became negative and the patient has been well for more than one year without relapse of bacteremia...
  63. pmc X-linked severe combined immunodeficiency syndrome: the first Korean case with gamma c chain gene mutation and subsequent genetic counseling
    Eun Kyeong Jo
    Department of Microbiology, College of Medicine, Chungnam National University, Daejeon, Korea
    J Korean Med Sci 19:123-6. 2004
    ..This is the first report of the molecular diagnosis of X-SCID in Korea. Genetic analysis of the gamma c chain gene is useful for definite diagnosis and genetic counseling for X-SCID...
  64. ncbi request reprint Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members
    Yasuhiro Tabata
    Division of Hematology Oncology and Division of Human Genetics, Children s Hospital Medical Center, MLC 7015, Cincinnati, OH 45229 3039, USA
    Blood 105:3066-71. 2005
    ..Four-color flow cytometry provides diagnostic information that may speed the identification of this fatal disease, differentiating it from other causes of EBV-HLH...
  65. 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...
  66. ncbi request reprint Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients
    Eun Kyeong Jo
    Department of Microbiology, College of Medicine, Chungnam National University, Daejeon, Korea
    J Hum Genet 48:322-6. 2003
    ..This study suggests that large genomic rearrangements involving Alu repeats are few but an important component of the spectrum of BTK mutations...
  67. ncbi request reprint Mutational analysis of the WASP gene in 2 Korean families with Wiskott-Aldrich syndrome
    Eun Kyeong Jo
    Department of Microbiology, College of Medicine, Chungnam National University, Daejeon, Korea
    Int J Hematol 78:40-4. 2003
    ..To our knowledge, this is the first report on molecular diagnosis of WAS in Korea. In addition, we detected normal WASP expression in lymphocytes from carrier mothers, a finding consistent with the data on skewed X inactivation...
  68. ncbi request reprint X-linked lymphoproliferative disease associated with hypogammaglobulinemia and growth-hormone deficiency
    Abdullah Alangari
    Department of Pediatrics, College of Medicine, King Saud University, P O Box 2925, 11461, Riyadh, Saudi Arabia
    Eur J Pediatr 165:165-7. 2006
    ..The patient's Btk expression and BTK gene were normal. Patients with hypogammaglobulinemia and GH deficiency should be considered to have not only X-linked agammaglobulinemia, but also X-linked lymphoproliferative disease...
  69. pmc Preferential expansion of Vgamma9-JgammaP/Vdelta2-Jdelta3 gammadelta T cells in nasal T-cell lymphoma and chronic active Epstein-Barr virus infection
    Michiko K Oyoshi
    Department of Virology, School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan
    Am J Pathol 162:1629-38. 2003
    ..The close association of EBV with this particular gammadelta T-cell population may provide a key to the etiology of EBV-positive lymphoproliferative diseases...
  70. ncbi request reprint Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia
    Asghar Aghamohammadi
    Division of Clinical Pediatric Immunology, Children s Medical Center, Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran
    Int Arch Allergy Immunol 141:408-14. 2006
    ..Eighty-five percent of the patients with this phenotype have mutations in Bruton's tyrosine kinase (BTK) gene...
  71. ncbi request reprint von Recklinghausen disease in a patient with X-linked agammaglobulinemia
    Daisuke Hirata
    Department of Rheumatology and Clinical Immunology, Jichi Medical School, Tochigi
    Intern Med 41:1039-43. 2002
    ..Although the influence of XLA on the development of von Recklinghausen disease is unknown for the moment, this is, to our knowledge, the first report of a patient with XLA who also developed von Recklinghausen disease...
  72. ncbi request reprint [X-linked agammaglobulinemia (XLA) associated with agranulocytosis--case report]
    Ninela Irga
    Kliniki Pediatrii, Hematologii, Onkologii i Endokrynologii, Akademii Medycznej w Gdansku
    Wiad Lek 56:378-80. 2003
    ..It is important to consider a primary immunodeficiency diagnosis when a child presents agranulocytosis or neutropenia and a recurrent infectious disease...