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Journal of Clinical Immunology, ISSN 0271-9142, 5/2015, Volume 35, Issue 4, pp. 384 - 398
We here describe treatment outcomes in two adenosine deaminase (ADA)-deficiency patients (pt) who received stem cell gene therapy (SCGT) with no cytoreductive... 
Medical Microbiology | Biomedicine | Immunology | retroviral vector(s) | Infectious Diseases | Internal Medicine | hematopoietic stem cell(s) | Gene therapy | severe combined immunodeficiency (SCID) | adenosine deaminase (ADA) | primary immunodeficiency (PID) | SEVERE COMBINED IMMUNODEFICIENCY | CHRONIC GRANULOMATOUS-DISEASE | WISKOTT-ALDRICH-SYNDROME | BONE-MARROW-CELLS | IMMUNOLOGY | RETROVIRAL VECTORS | ENZYME-REPLACEMENT THERAPY | PERIPHERAL-BLOOD LYMPHOCYTES | ADA DEFICIENCY | T-LYMPHOCYTES | HEMATOPOIETIC STEM | Genetic Therapy | Agammaglobulinemia - immunology | Agammaglobulinemia - genetics | Humans | Child, Preschool | Agammaglobulinemia - diagnosis | Infant | Immunity | Lymphocyte Subsets - immunology | Lymphocyte Subsets - metabolism | Hematopoiesis | Adenosine Deaminase - therapeutic use | Cell Differentiation | Adenosine Deaminase - deficiency | Transgenes | Infant, Newborn | Enzyme Replacement Therapy | Gene Expression | Transduction, Genetic | Adenosine Deaminase - genetics | Agammaglobulinemia - therapy | Severe Combined Immunodeficiency - diagnosis | Japan | Hematopoietic Stem Cell Transplantation | Severe Combined Immunodeficiency - therapy | Immunophenotyping | Treatment Outcome | Hematopoietic Stem Cells - metabolism | Severe Combined Immunodeficiency - immunology | Genetic Vectors - genetics | Severe Combined Immunodeficiency - genetics | Gammaretrovirus - genetics | Hematopoietic Stem Cells - cytology | Adolescent | Age of Onset | Enzyme Activation | Mutation | Adenosine Deaminase - immunology | Enzymes | Adenosine | Care and treatment | Analysis | Genes | Patient outcomes | Immunodeficiency | Stem cells | Transplantation | T cells | Hematopoietic stem cells | Index Medicus
Journal Article
European Journal of Pediatrics, ISSN 0340-6199, 12/2008, Volume 167, Issue 12, pp. 1389 - 1394
In this paper, we examined the details of severe infections, treatment efficacies, and the prognoses of 23 Japanese patients with chronic granulomatous disease... 
Pediatrics | Interferon-gamma | Medicine & Public Health | Antifungal prophylaxis | Severe infection | Survival rate | Colitis | Hematopoietic stem cell transplantation | PROPHYLAXIS | BONE-MARROW TRANSPLANTATION | GASTRIC OUTLET OBSTRUCTION | PEDIATRICS | INFECTION | CHILDHOOD | Granulomatous Disease, Chronic - mortality | Japan - epidemiology | Prognosis | Follow-Up Studies | Thinness - etiology | Humans | Granulomatous Disease, Chronic - genetics | Child, Preschool | Genetic Diseases, X-Linked - complications | Growth Disorders - etiology | Hospitals, Pediatric | Male | Opportunistic Infections - mortality | Granulomatous Disease, Chronic - complications | Opportunistic Infections - prevention & control | Opportunistic Infections - etiology | Stem Cell Transplantation | NADPH Oxidases - deficiency | Aspergillosis - etiology | Aspergillosis - mortality | Adult | Female | Drug Therapy, Combination | Child | Aspergillosis - complications | Biomarkers - metabolism | Trimethoprim, Sulfamethoxazole Drug Combination - administration & dosage | Granulomatous Disease, Chronic - therapy | Antiviral Agents - administration & dosage | NADPH Oxidase 2 | Hospitals, State | Opportunistic Infections - microbiology | Anti-Infective Agents - administration & dosage | Interferon-gamma - administration & dosage | Phosphoproteins - deficiency | Adolescent | Survival Analysis | Body Height | Granulomatous Disease, Chronic - enzymology | Antifungal Agents - administration & dosage | Membrane Glycoproteins - deficiency | Pneumonia | Chronic granulomatous disease | Transplantation | Bacterial pneumonia | Hematopoietic stem cells | Index Medicus
Journal Article
Journal Article
Nippon rinsho. Japanese journal of clinical medicine, ISSN 0047-1852, 2003, Volume 61, pp. 144 - 148
Journal Article
Molecular Therapy, ISSN 1525-0016, 2006, Volume 13, Issue S1, pp. S418 - S418
  In the previous meeting, we reported the initial follow-up of the two patients with adenosine deaminase (ADA)-deficiency whom we had treated in a clinical... 
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 1994, Volume 199, Issue 3, pp. 1378 - 1387
Journal Article
Molecular Therapy, ISSN 1525-0016, 05/2005, Volume 11, Issue S1, pp. S14 - S15
  Severe combined immunodeficiency due to genetic defects of adenosine deaminase (ADA-SCID) has been a target disease of retroviral-mediated gene therapy.... 
Journal Article
Molecular Therapy, ISSN 1525-0016, 05/2004, Volume 9, Issue S1, pp. S67 - S67
  For ADA-deficiency, a form of severe combined immunodeficiency, retroviral-mediated gene correction of peripheral T cells or hematopoietic stem/progenitor... 
Journal Article
Journal Article
Pediatrics International, ISSN 1328-8067, 10/1999, Volume 41, Issue 5, pp. 589 - 593
Abstract Purpose : To analyze the incidence and causes of fatality of patients with chronic granulomatous disease (CGD) in Japan and to provide an opportunity... 
aging society | child health | health reform | Japan | Aspergillus infection | Questionnaire survey | Chronic granulomatous disease | PROPHYLAXIS | ASPERGILLUS-FUMIGATUS | INFECTIONS | chronic granulomatous disease | questionnaire survey | HOST-DEFENSE | PEDIATRICS | PSEUDOMONAS-CEPACIA
Journal Article
British Journal of Haematology, ISSN 0007-1048, 03/2000, Volume 108, Issue 3, pp. 511 - 517
Chronic granulomatous disease (CGD) is a disorder caused by defects in the NADPH oxidase responsible for superoxide generation in phagocytes. Cytochrome b558,... 
p22-phox expression | chronic granulomatous disease | mutation analysis | genotype-phenotype correlation | CYBA
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 10/1998, Volume 273, Issue 43, p. 27879
Defective NADPH oxidase components prevent superoxide (O⨪ 2 ) generation, causing chronic granulomatous disease (CGD). X-linked CGD patients have mutations... 
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 10/1998, Volume 273, Issue 43, pp. 27879 - 27886
Journal Article
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