Published in Pediatr Int on August 01, 2011
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity (2006) 4.75
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
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat (2002) 1.81
Suppressor of cytokine signalling-1 gene silencing in acute myeloid leukaemia and human haematopoietic cell lines. Br J Haematol (2004) 1.70
Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients. Blood (2007) 1.69
The radiotoxicity of 131I therapy of thyroid cancer: assessment by micronucleus assay of B lymphocytes. J Nucl Med (2004) 1.68
Expression of myeloid-related protein-8 and -14 in patients with acute Kawasaki disease. J Am Coll Cardiol (2006) 1.65
Proposed guidelines for diagnosing chronic active Epstein-Barr virus infection. Am J Hematol (2005) 1.65
Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. Am J Hum Genet (2002) 1.64
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
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
Serine racemase is predominantly localized in neurons in mouse brain. J Comp Neurol (2008) 1.57
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
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
SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis. Pediatr Int (2012) 1.46
Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Kidney Int (2010) 1.46
Genetic analysis of patients with defects in early B-cell development. Immunol Rev (2005) 1.41
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
Monitoring of cerebral oxygenation during hypoxic gas management in congenital heart disease with increased pulmonary blood flow. Pediatr Res (2005) 1.40
Sudden infant death syndrome due to parainfluenza virus 2 associated with hemophagocytic syndrome. J Infect (2004) 1.39
Prognostic factors for chronic active Epstein-Barr virus infection. J Infect Dis (2003) 1.36
Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity. Mol Genet Metab (2006) 1.33
The landscape of somatic mutations in Down syndrome-related myeloid disorders. Nat Genet (2013) 1.31
Absence of memory B cells in patients with common variable immunodeficiency. Clin Immunol (2002) 1.30
Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. Mol Genet Metab (2002) 1.28
The kinase Btk negatively regulates the production of reactive oxygen species and stimulation-induced apoptosis in human neutrophils. Nat Immunol (2012) 1.25
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. J Clin Endocrinol Metab (2004) 1.24
S100A12 (EN-RAGE) in monitoring Kawasaki disease. Lancet (2003) 1.21
Chemokine receptor expression and functional effects of chemokines on B cells: implication in the pathogenesis of rheumatoid arthritis. Arthritis Res Ther (2009) 1.19
Clinical impact of down-regulated plasma miR-92a levels in non-Hodgkin's lymphoma. PLoS One (2011) 1.15
Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards. J Pediatr (2009) 1.15
Usefulness of beta-catenin immunostaining for the differential diagnosis of solid-pseudopapillary neoplasm of the pancreas. Am J Surg Pathol (2002) 1.13
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
Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members. Blood (2005) 1.13
Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes. Blood (2012) 1.11
Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles. J Allergy Clin Immunol (2012) 1.07
Membranoproliferative glomerulonephritis in a patient with X-linked agammaglobulinemia. Pediatr Nephrol (2005) 1.07
Beta-catenin interacts with the FUS proto-oncogene product and regulates pre-mRNA splicing. Gastroenterology (2005) 1.07
Combined treatment of steroids and cyclosporine in Kimura disease. Pediatrics (2006) 1.07
Relapsing Campylobacter coli bacteremia with reactive arthritis in a patient with X-linked agammaglobulinemia. Intern Med (2007) 1.06
Severe form of encephalopathy associated with 2009 pandemic influenza A (H1N1) in Japan. J Clin Virol (2012) 1.06
Effective use of corticosteroid in a child with life-threatening plastic bronchitis after Fontan operation. Pediatr Int (2003) 1.05
Biological aspects of Epstein-Barr virus (EBV)-infected lymphocytes in chronic active EBV infection and associated malignancies. Crit Rev Oncol Hematol (2002) 1.04
Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome. Br J Haematol (2008) 1.04
Serum and cerebrospinal fluid nitrite/nitrate levels in patients with rotavirus gastroenteritis induced convulsion. Life Sci (2004) 1.03
Toll-like receptor signaling is impaired in dendritic cells from patients with X-linked agammaglobulinemia. Clin Immunol (2008) 1.02
Epstein-Barr virus-associated T-/natural killer cell lymphoproliferative diseases. Semin Hematol (2003) 1.01
A new proposal for a clinical-oriented subclassification of baboon syndrome and a review of baboon syndrome. Asian Pac J Allergy Immunol (2011) 1.00
Clinical and genetic characteristics of XIAP deficiency in Japan. J Clin Immunol (2012) 1.00
Impaired neuroanatomic development in infants with congenital heart disease. J Thorac Cardiovasc Surg (2008) 1.00
Noninvasive monitoring of deterioration in skeletal muscle function with forearm cast immobilization and the prevention of deterioration. Dyn Med (2004) 0.99
Outcome in patients with Wiskott-Aldrich syndrome following stem cell transplantation: an analysis of 57 patients in Japan. Br J Haematol (2006) 0.99
Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan. Int J Hematol (2009) 0.99
Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia. Blood (2010) 0.99
Developmental changes of FOXP3-expressing CD4+CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations. Clin Immunol (2007) 0.98
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
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
RAPID: Resource of Asian Primary Immunodeficiency Diseases. Nucleic Acids Res (2008) 0.97
Predominance of Th2-promoting dendritic cells in early human pregnancy decidua. J Leukoc Biol (2003) 0.96
Acute Kawasaki disease is associated with reverse regulation of soluble receptor for advance glycation end products and its proinflammatory ligand S100A12. Arthritis Rheum (2007) 0.96
Diurnal variation in febrile convulsions. Pediatr Neurol (2010) 0.96
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
Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death. Mol Genet Metab (2010) 0.95
Role of transforming growth factor-beta in breast milk for initiation of IgA production in newborn infants. Early Hum Dev (2004) 0.94
Umbilical cord milking stabilizes cerebral oxygenation and perfusion in infants born before 29 weeks of gestation. J Pediatr (2012) 0.94
Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia. Am J Med Genet (2002) 0.93
Nutcracker phenomenon in two siblings of a Japanese family. Pediatr Nephrol (2005) 0.92
Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Pediatr Nephrol (2009) 0.92
Effect of the VKORC1 genotype on warfarin dose requirements in Japanese pediatric patients. Drug Metab Pharmacokinet (2011) 0.92
Novel anticytomegalovirus activity of immunosuppressant mizoribine and its synergism with ganciclovir. J Pharmacol Exp Ther (2010) 0.92