Genomes and Genes
Affiliation: Tokyo Medical and Dental University
- Characterization of the Wiskott-Aldrich syndrome protein and its role in the diseaseS Nonoyama
Department of Pediatrics, School of Medicine, Tokyo Medical and Dental University, Bunkyo ku, Tokyo, Japan
Curr Opin Immunol 10:407-12. 1998..Subsequent studies suggest that the protein is involved in signal transduction and the regulation of the cytoskeleton...
- Functional analysis of peripheral blood B cells in patients with X-linked agammaglobulinemiaS Nonoyama
Department of Pediatrics, University of Washington, Seattle 98195, USA
J Immunol 161:3925-9. 1998..These results indicate that CD40 signaling is intact in B cells lacking demonstrable Btk, and that leaky B cells in XLA patients can proliferate, undergo isotype switching, and differentiate into specific Ab-producing cells...
- Diminished expression of CD40 ligand may contribute to the defective humoral immunity in patients with MHC class II deficiencyS Nonoyama
Department of Pediatrics, University of Washington, Seattle, USA
Eur J Immunol 28:589-98. 1998..We conclude that BLS B cells are functionally normal if appropriately stimulated, and that the defective humoral immunity observed may be related to diminished expression of CD40 ligand on BLS T cells...
- Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndromeK Seyama
Department of Pediatrics and Biological Structure, University of Washington Medical School, Seattle, WA 98195 6320, USA
Blood 92:2421-34. 1998..Patients with genotypes resulting in diminished expression of wild-type CD40L or mutant CD40L that can still bind CD40-Ig appear to have milder clinical consequences...
- The pleckstrin homology domain of the Wiskott-Aldrich syndrome protein is involved in the organization of actin cytoskeletonK Imai
School of Medicine, Tokyo Medical and Dental University, Tokyo, 113 8519, Japan
Clin Immunol 92:128-37. 1999....
- Classification of mutations in the human CD40 ligand, gp39, that are associated with X-linked hyper IgM syndromeJ Bajorath
Bristol Meyers Squibb Pharmaceutical Research Institute, Seattle, Washington 98121, USA
Protein Sci 5:531-4. 1996..The latter mutations may thus, directly or indirectly, interfere with CD40 binding. One naturally occurring mutant whose carrier displays normal immune responses maps to a solvent-exposed position in a loop region of the molecule...
- Absence of IgD-CD27(+) memory B cell population in X-linked hyper-IgM syndromeK Agematsu
Department of Pediatrics, Shinshu University School of Medicine, Matsumoto 390, Japan
J Clin Invest 102:853-60. 1998..However, the IgG production can be induced by stimulation of immunoglobulin receptors and CD40 in cooperation with such cytokines as IL-2 and IL-10 in vitro...
- Only dull CD3+ thymocytes bind to thymic epithelial cells. The binding is elicited by both CD2/LFA-3 and LFA-1/ICAM-1 interactionsS Nonoyama
Department of Immunology, National Children s Medical Research Center, Tokyo, Japan
Eur J Immunol 19:1631-5. 1989..These findings indicate that CD3dull+ cells can bind to TEC via CD2/LFA-3 and LFA-1/ICAM-1 interactions. Other cells seemed not to bind to TEC because of sialylation...
- Characterization of soluble CD40 ligand released from human activated plateletsY Jin
Division of Human Ontogeny and Childhood Development, Graduate School, Tokyo Medical and Dental University, Japan
J Med Dent Sci 48:23-7. 2001....
- Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndromeS Nonoyama
Department of Pediatrics, University of Washington, Seatle 98195, USA
Hum Genet 99:624-7. 1997..In one XHIM family with a missense mutation, prenatal diagnosis was performed by single-strand conformation polymorphism analysis of genomic DNA of a male fetus...
- Wiskott-Aldrich syndrome (role of WASP)S Nonoyama
Department of Pediatrics, School of Medicine, Tokyo Medical and Dental University, Japan
J Med Dent Sci 48:1-6. 2001..Subsequent studies suggest that WASP is involved in signal transduction and in the regulation of the cytoskeleton...
- Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiencyK Matsubara
Department of Pediatrics, Nishi Kobe Medical Center, Japan
Haematologica 92:e123-5. 2007..Growth failure and dental development delay were also noted. Neurodevelopmental delay in this patient expands the clinical phenotype of HAX1 deficiency and suggests an important role of HAX1 on neural development as well as myelopoiesis...
- Strain-dependent leakiness of mice with severe combined immune deficiencyS Nonoyama
Department of Pediatrics, University of Washington, Seattle 98195
J Immunol 150:3817-24. 1993..These results indicate that, of the three strains of immune-deficient mice, C3H SCID mice have the most severe immune defect. We predict that C3H SCID mice will be best suited for cell transfer experiments...
- Wiskott-Aldrich syndromeS Nonoyama
Department of Pediatrics, School of Medicine, Tokyo Medical and Dental University, 1 5 45, Yushima, Bunkyo ku, Tokyo, 113 8519, Japan
Curr Allergy Asthma Rep 1:430-7. 2001..The study of WASP and its mutations demonstrates how a single gene defect can cause multiple and complex clinical symptoms...
- Ku in the cytoplasm associates with CD40 in human B cells and translocates into the nucleus following incubation with IL-4 and anti-CD40 mAbT Morio
Department of Pediatrics, Tokyo Medical and Dental University School of Medicine, Japan
Immunity 11:339-48. 1999..These findings indicate that Ku is involved in the CD40 signal transduction pathway and may play an important role in the CD40-mediated events...
- Characterization of human thymic lymphocytes forming rosettes with stromal cellsS Nonoyama
Department of Pediatrics, School of Medicine, Tokyo Medical and Dental University
Tohoku J Exp Med 168:467-74. 1992..Blocking test revealed that CD11a and CD2 are involved in the binding of TRL and the stromal cells as adhesion molecules...
- Cord blood transplantation is associated with rapid B-cell neogenesis compared with BM transplantationK Nakatani
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University Graduate School of Medical and Dental Sciences, Tokyo, Japan
Bone Marrow Transplant 49:1155-61. 2014..Finally, positive sjKRECs 1 month after HCT were associated with fewer infectious episodes. Monitoring of TRECs and KRECs may serve as a useful tool for assessment of immune reconstitution post HCT. ..
- Quantitation of human herpesvirus-6 (HHV-6) DNA in a cord blood transplant recipient with chromosomal integration of HHV-6D Kobayashi
Department of Pediatrics, Children s Hospital of Michigan, Wayne State University School of Medicine, Detroit, Michigan 48201 2119, USA
Transpl Infect Dis 13:650-3. 2011..HHV-6 DNA was serially quantitated by polymerase chain reaction assay in the transplant period. The possibility of HHV-6 reactivation in a transplant recipient with CIHHV-6 was suspected in our case...
- Hematopoietic stem cell transplantation for 30 patients with primary immunodeficiency diseases: 20 years experience of a single teamY Tsuji
Department of Pediatrics, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan
Bone Marrow Transplant 37:469-77. 2006....
- Involvement of wiskott-aldrich syndrome protein in B-cell cytoplasmic tyrosine kinase pathwayY Baba
Department of Medicine III, Osaka University Medical School, Osaka, Japan
Blood 93:2003-12. 1999..Furthermore, identification of the phosphorylation site of WASP in reconstituted cells allowed us to evaluate the catalytic specificity of Btk, the exact nature of which is still unknown...
- Flow cytometric determination of intracytoplasmic Wiskott-Aldrich syndrome protein in peripheral blood lymphocyte subpopulationsS Kawai
Department of Pediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, 980 8575, Sendai, Japan
J Immunol Methods 260:195-205. 2002..This flow cytometry method is important as a supplement to Western blots, but even more important as an alternative and powerful assay that can contribute to research on WASP as well as diagnosis in a clinical setting...
- The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndromeA Aruffo
Bristol Myers Squibb, Pharmaceutical Research Institute, Seattle, Washington 98121
Cell 72:291-300. 1993..The gene encoding gp39 was mapped to Xq26, the X chromosome region where the gene responsible for HIM had previously been mapped. These data suggest that a defect in gp39 is the basis of X-linked HIM...