PubRank

Hirokazu Kanegane

Author PubWeight™ 103.18‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Reduced Numbers and Proapoptotic Features of Mucosal-associated Invariant T Cells as a Characteristic Finding in Patients with Inflammatory Bowel Disease. Inflamm Bowel Dis 2015 2.13
2 Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat 2002 1.81
3 Suppressor of cytokine signalling-1 gene silencing in acute myeloid leukaemia and human haematopoietic cell lines. Br J Haematol 2004 1.70
4 The radiotoxicity of 131I therapy of thyroid cancer: assessment by micronucleus assay of B lymphocytes. J Nucl Med 2004 1.68
5 Proposed guidelines for diagnosing chronic active Epstein-Barr virus infection. Am J Hematol 2005 1.65
6 Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. Am J Hum Genet 2002 1.64
7 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. Pediatr Blood Cancer 2010 1.57
8 Identification of FOXP3-negative regulatory T-like (CD4(+)CD25(+)CD127(low)) cells in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Clin Immunol 2011 1.57
9 Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood 2010 1.55
10 Hemophagocytic lymphohistiocytosis associated with uncontrolled inflammatory cytokinemia and chemokinemia was caused by systemic anaplastic large cell lymphoma: a case report and review of the literature. J Pediatr Hematol Oncol 2008 1.52
11 SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis. Pediatr Int 2012 1.46
12 Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Kidney Int 2010 1.46
13 Genetic analysis of patients with defects in early B-cell development. Immunol Rev 2005 1.41
14 X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood 2010 1.40
15 Prognostic factors for chronic active Epstein-Barr virus infection. J Infect Dis 2003 1.36
16 The landscape of somatic mutations in Down syndrome-related myeloid disorders. Nat Genet 2013 1.31
17 The kinase Btk negatively regulates the production of reactive oxygen species and stimulation-induced apoptosis in human neutrophils. Nat Immunol 2012 1.25
18 Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. J Clin Endocrinol Metab 2004 1.24
19 Chemokine receptor expression and functional effects of chemokines on B cells: implication in the pathogenesis of rheumatoid arthritis. Arthritis Res Ther 2009 1.19
20 Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards. J Pediatr 2009 1.15
21 Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. J Allergy Clin Immunol 2011 1.13
22 Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members. Blood 2005 1.13
23 Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes. Blood 2012 1.11
24 Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles. J Allergy Clin Immunol 2012 1.07
25 Membranoproliferative glomerulonephritis in a patient with X-linked agammaglobulinemia. Pediatr Nephrol 2005 1.07
26 Relapsing Campylobacter coli bacteremia with reactive arthritis in a patient with X-linked agammaglobulinemia. Intern Med 2007 1.06
27 Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome. Br J Haematol 2008 1.04
28 Toll-like receptor signaling is impaired in dendritic cells from patients with X-linked agammaglobulinemia. Clin Immunol 2008 1.02
29 Epstein-Barr virus-associated T-/natural killer cell lymphoproliferative diseases. Semin Hematol 2003 1.01
30 Clinical and genetic characteristics of XIAP deficiency in Japan. J Clin Immunol 2012 1.00
31 Outcome in patients with Wiskott-Aldrich syndrome following stem cell transplantation: an analysis of 57 patients in Japan. Br J Haematol 2006 0.99
32 Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia. Blood 2010 0.99
33 Developmental changes of FOXP3-expressing CD4+CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations. Clin Immunol 2007 0.98
34 Clinical significance of cloned expansion and CD5 down-regulation in Epstein-Barr Virus (EBV)-infected CD8+ T lymphocytes in EBV-associated hemophagocytic lymphohistiocytosis. J Infect Dis 2010 0.98
35 RAPID: Resource of Asian Primary Immunodeficiency Diseases. Nucleic Acids Res 2008 0.97
36 Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection. Int Immunol 2002 0.97
37 Therapeutic outcome of multifocal Langerhans cell histiocytosis in adults treated with the Special C regimen formulated by the Japan LCH Study Group. Int J Hematol 2012 0.95
38 Role of transforming growth factor-beta in breast milk for initiation of IgA production in newborn infants. Early Hum Dev 2004 0.94
39 Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia. Am J Med Genet 2002 0.93
40 Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Pediatr Nephrol 2009 0.92
41 Ganciclovir therapy for congenital cytomegalovirus infection in six infants. Pediatr Infect Dis J 2005 0.91
42 Nationwide survey of patients with primary immunodeficiency diseases in Japan. J Clin Immunol 2011 0.91
43 IgA nephropathy associated with X-linked thrombocytopenia. Am J Kidney Dis 2004 0.90
44 Quantitative assessment of PTPN11 or RAS mutations at the neonatal period and during the clinical course in patients with juvenile myelomonocytic leukaemia. Br J Haematol 2009 0.90
45 Evans syndrome in a patient with Langerhans cell histiocytosis: possible pathogenesis of autoimmunity in LCH. Int J Hematol 2007 0.90
46 Minimal residual disease-based augmented therapy in childhood acute lymphoblastic leukemia: a report from the Japanese Childhood Cancer and Leukemia Study Group. Pediatr Blood Cancer 2010 0.89
47 [A case of Williams syndrome with p47-phox-deficient chronic granulomatous disease]. Nihon Rinsho Meneki Gakkai Kaishi 2003 0.88
48 A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly. Haematologica 2009 0.88
49 Identification of an SH2D1A mutation in a hypogammaglobulinemic male patient with a diagnosis of common variable immunodeficiency. Int J Hematol 2003 0.87
50 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. Clin Diagn Lab Immunol 2004 0.86
51 Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype-phenotype correlations. Blood Cells Mol Dis 2003 0.86
52 Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction. Mol Genet Metab 2010 0.86
53 Sustained elevation of serum interleukin-18 and its association with hemophagocytic lymphohistiocytosis in XIAP deficiency. Cytokine 2013 0.86
54 Early lineage switch in an infant acute lymphoblastic leukemia. Int J Hematol 2009 0.86
55 Prognostic factors of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in children: report of the Japan Histiocytosis Study Group. Pediatr Blood Cancer 2014 0.85
56 Female agammaglobulinemia due to the Bruton tyrosine kinase deficiency caused by extremely skewed X-chromosome inactivation. Blood 2003 0.85
57 Epstein-Barr virus (EBV)-associated post-transplantation lymphoproliferative disorder simultaneously affecting both B and T cells after allogeneic bone marrow transplantation. Am J Hematol 2003 0.85
58 Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China. J Clin Immunol 2008 0.85
59 Disseminated BCG infection mimicking metastatic nasopharyngeal carcinoma in an immunodeficient child with a novel hypomorphic NEMO mutation. J Clin Immunol 2011 0.85
60 Cytokine profiles of patients with enterohemorrhagic Escherichia coli O111-induced hemolytic-uremic syndrome. Cytokine 2012 0.85
61 Outcome of pediatric patients with Langerhans cell histiocytosis treated with 2 chlorodeoxyadenosine: a nationwide survey in Japan. Int J Hematol 2010 0.84
62 Cytokine profiles in children with primary Epstein-Barr virus infection. Pediatr Blood Cancer 2013 0.84
63 Infliximab reduces the cytokine-mediated inflammation but does not suppress cellular infiltration of the vessel wall in refractory Kawasaki disease. Pediatr Res 2009 0.84
64 Nationwide survey of bisphosphonate therapy for children with reactivated Langerhans cell histiocytosis in Japan. Pediatr Blood Cancer 2011 0.83
65 RAG1 deficiency may present clinically as selective IgA deficiency. J Clin Immunol 2015 0.83
66 Autoimmune lymphoproliferative syndrome mimicking chronic active Epstein-Barr virus infection. Int J Hematol 2011 0.83
67 Naturally occurring oncogenic GATA1 mutants with internal deletions in transient abnormal myelopoiesis in Down syndrome. Blood 2013 0.83
68 Mutational analysis of the WASP gene in 2 Korean families with Wiskott-Aldrich syndrome. Int J Hematol 2003 0.82
69 Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes. J Hum Genet 2011 0.82
70 Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia. Int Arch Allergy Immunol 2006 0.82
71 Pneumocystis jiroveci pneumonia as an atypical presentation of X-linked agammaglobulinemia. Int J Hematol 2009 0.81
72 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. Herpesviridae 2012 0.81
73 Acute tubulointerstitial nephritis: possible association with cytomegalovirus infection. Pediatr Nephrol 2005 0.81
74 Clinicoepidemiologic status of mother-to-child infections: a nationwide survey in Japan. Pediatr Infect Dis J 2013 0.81
75 X-linked agammaglobulinemia diagnosed in adulthood: a case report. Int J Hematol 2006 0.81
76 Campylobacter fetus bacteremia with purulent pleurisy in a young adult with primary hypogammaglobulinemia. Intern Med 2014 0.80
77 X-linked agammaglobulinemia associated with B-precursor acute lymphoblastic leukemia. J Clin Immunol 2015 0.80
78 Aberrant glycosylation of IgA in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. J Allergy Clin Immunol 2012 0.80
79 Pilomyxoid astrocytoma in a patient presenting with fatal hemorrhage. Case report. J Neurosurg Pediatr 2008 0.79
80 Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan. Int J Hematol 2006 0.79
81 Neuroblastoma in an XYY male. Cancer Genet Cytogenet 2006 0.79
82 Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia. Hum Mutat 2002 0.79
83 Preferential expansion of Vgamma9-JgammaP/Vdelta2-Jdelta3 gammadelta T cells in nasal T-cell lymphoma and chronic active Epstein-Barr virus infection. Am J Pathol 2003 0.79
84 ETV6-ARNT fusion in a patient with childhood T lymphoblastic leukemia. Cancer Genet Cytogenet 2010 0.79
85 Pneumothorax in patients with severe combined immunodeficiency. Pediatr Int 2014 0.79
86 Somatic mosaicism for a NRAS mutation associates with disparate clinical features in RAS-associated leukoproliferative disease: a report of two cases. J Clin Immunol 2015 0.79
87 MxA-based recognition of viral illness in febrile children by a whole blood assay. Pediatr Res 2006 0.78
88 Neutropenia associated with X-linked Agammaglobulinemia in an Iranian referral center. Iran J Allergy Asthma Immunol 2009 0.78
89 A Dual Reporter Splicing Assay Using HaloTag-containing Proteins. Curr Chem Genomics 2012 0.78
90 A case of severe recurrent hepatitis with common variable immunodeficiency. Hepatol Res 2007 0.78
91 von Recklinghausen disease in a patient with X-linked agammaglobulinemia. Intern Med 2002 0.78
92 Clinical characteristics and outcomes of chédiak-Higashi syndrome: a nationwide survey of Japan. Pediatr Blood Cancer 2013 0.78
93 The role of a mutation of the CXCR4 gene in WHIM syndrome. Haematologica 2005 0.78
94 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. J Hum Genet 2003 0.78
95 Atypical lymphoproliferative disorder in a patient with X-linked thrombocytopenia. Pediatr Blood Cancer 2008 0.78
96 A novel immunoregulatory protein in human colostrum, syntenin-1, for promoting the development of IgA-producing cells from cord blood B cells. Int Immunol 2009 0.77
97 Molecular characterization of two novel VEGFR3 mutations in Japanese families with Milroy's disease. Pediatr Int 2008 0.77
98 Selective expansion of donor-derived regulatory T cells after allogeneic bone marrow transplantation in a patient with IPEX syndrome. Pediatr Transplant 2013 0.77
99 [Gene diagnosis of X-linked agammaglobulinemia]. Zhonghua Er Ke Za Zhi 2005 0.77
100 Transcriptional regulatory defects in the first intron of Bruton's tyrosine kinase. Pediatr Int 2008 0.77
101 X-linked agammaglobulinemia complicated with endobronchial tuberculosis. Acta Paediatr 2010 0.77
102 Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry. Cytometry B Clin Cytom 2011 0.77
103 Non-progressive viral myelitis in X-linked agammaglobulinemia. Brain Dev 2002 0.76
104 Outcome of non-T-cell-depleted HLA-haploidentical hematopoietic stem cell transplantation from family donors in children and adolescents. Int J Hematol 2007 0.76
105 A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele. J Clin Immunol 2015 0.76
106 Characterization of a novel nonsense mutation in the interleukin-7 receptor alpha gene in a Korean patient with severe combined immunodeficiency. Int J Hematol 2004 0.76
107 Hematopoietic stem cell transplantation with reduced intensity conditioning from a family haploidentical donor in an infant with familial hemophagocytic lymphohistocytosis. Int J Hematol 2011 0.76
108 Platelet-derived growth factor may be associated with fibrosis in a Down syndrome patient with transient myeloproliferative disorder. Eur J Haematol 2008 0.76
109 X-linked severe combined immunodeficiency syndrome: the first Korean case with gamma c chain gene mutation and subsequent genetic counseling. J Korean Med Sci 2004 0.75
110 X-linked dyskeratosis congenita in Malaysia. Pediatr Blood Cancer 2008 0.75
111 X-linked lymphoproliferative disease associated with hypogammaglobulinemia and growth-hormone deficiency. Eur J Pediatr 2005 0.75
112 Lymphoproliferative disorders in immunocompromised individuals and therapeutic antibodies for treatment. Immunotherapy 2013 0.75
113 Neutropenia and myeloid dysplasia in a patient with delayed-onset adenosine deaminase deficiency. Pediatr Blood Cancer 2013 0.75
114 Identification of a novel MYH9 mutation in a patient with May-Hegglin anomaly. Pediatr Blood Cancer 2006 0.75
115 Open heart operation in a child with congenital heart disease and hereditary spherocytosis. Circ J 2006 0.75
116 Identification of DKC1 gene mutation in an Indian patient. Indian J Pediatr 2010 0.75
117 Giardiasis in a patient undergoing chemotherapy for retinoblastoma and acute myelogenous leukemia. Pediatr Int 2013 0.75
118 Acute promyelocytic leukemia following aleukemic leukemia cutis harboring NPM/RARA fusion gene. Pediatr Blood Cancer 2012 0.75
119 Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis. Int J Hematol 2012 0.75
120 [Genetic and proteinic analysis of a Chinese boy with X-linked lymphoproliferative disease and his maternal relatives]. Zhonghua Er Ke Za Zhi 2011 0.75
121 M-protein-positive chronic active Epstein-Barr virus infection: features mimicking HIV-1 infection. Int J Hematol 2009 0.75
122 A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features. Gene 2012 0.75
123 [Progress of diagnosis and treatment of X-linked inhibitor of apoptosis deficiency]. Zhonghua Er Ke Za Zhi 2012 0.75
124 Discordant endocrinopathy in a sibling with shwachman-diamond syndrome. J Trop Pediatr 2006 0.75
125 Risk factors for poor outcome in congenital cytomegalovirus infection and neonatal herpes on the basis of a nationwide survey in Japan. Pediatr Int 2013 0.75
126 [IPEX syndrome and human Treg cells]. Nihon Rinsho Meneki Gakkai Kaishi 2010 0.75
127 Successful treatment of very large congenital infantile fibrosarcoma. Pediatr Int 2011 0.75
128 Aggressive transformation of anaplastic large cell lymphoma with increased number of ALK-translocated chromosomes. Int J Hematol 2014 0.75
129 Three brothers of X-linked agammaglobulinemia: the relation between phenotype and neutropenia. Int J Hematol 2009 0.75
130 Acute lymphoblastic leukemia after living donor liver transplantation. Pediatr Int 2005 0.75
131 Case of acute cerebellar ataxia associated with primary Epstein-Barr virus infection. Pediatr Int 2010 0.75
132 Mutations in Bruton's tyrosine kinase impair IgA responses. Int J Hematol 2015 0.75
133 Hepatocyte growth factor in transient myeloproliferative disorder of Down syndrome. Pediatr Int 2009 0.75
134 Intrauterine growth restriction modifies gene expression profiling in cord blood. Pediatr Int 2014 0.75
135 Allogeneic bone marrow transplantation appears to ameliorate IgA nephropathy in a patient with X-linked thrombocytopenia. J Clin Immunol 2013 0.75
136 Nocturnal enuresis as a first manifestation of acute lymphoblastic leukemia. Pediatr Int 2013 0.75
137 [X-linked agammaglobulinemia (XLA) associated with agranulocytosis--case report]. Wiad Lek 2003 0.75
138 [Primary immunodeficiency diseases]. Nihon Rinsho 2005 0.75
139 Atypical case of X-linked agammaglobulinemia diagnosed at 45 years of age. Pediatr Int 2011 0.75
140 Relapsed leukemia without peripheral blood abnormalities and clinical symptoms detected on MRI. Pediatr Int 2014 0.75
141 X-linked lymphoproliferative disease in an adult. Int J Hematol 2005 0.75
142 Mislocalization or low expression of mutated Shwachman-Bodian-Diamond syndrome protein. Int J Hematol 2011 0.75
143 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. Leuk Lymphoma 2008 0.75
144 [Primary immunodeficiencies--agammaglobulinemia--a new trend in diagnosis and treatment]. Nihon Rinsho 2010 0.75