Search Results - (Author, Cooperation:L. D. Notarangelo)

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  1. 1
    Staff View
    Publication Date:
    2014-10-14
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Adolescent ; Alleles ; Child ; Cytokines/deficiency/genetics/*metabolism ; Endopeptidases/chemistry/metabolism ; Female ; Gene Expression Regulation ; Humans ; Inflammation/genetics/immunology/*prevention & control ; Interferon Type I/*immunology/metabolism ; Intracellular Space/*metabolism ; Male ; Pedigree ; S-Phase Kinase-Associated Proteins/metabolism ; Signal Transduction ; Ubiquitination ; Ubiquitins/deficiency/genetics/*metabolism ; Viruses/immunology
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    Staff View
    Publication Date:
    2012-10-30
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Astrocytes/immunology/virology ; Biomarkers ; Cell Differentiation ; Cell Lineage ; Cell Separation ; Cells, Cultured ; Central Nervous System/cytology/immunology/*pathology/virology ; Child ; Disease Susceptibility ; Encephalitis, Herpes Simplex/immunology/metabolism/pathology/virology ; Herpesvirus 1, Human/*immunology/pathogenicity ; Humans ; Immunity, Innate ; Induced Pluripotent Stem Cells/*cytology/virology ; Interferons/immunology ; Membrane Transport Proteins/deficiency/genetics ; Neural Stem Cells/immunology/virology ; Neurons/immunology/pathology/virology ; Oligodendroglia/immunology/pathology/virology ; Toll-Like Receptor 3/*deficiency/genetics
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  3. 3
    Staff View
    Publication Date:
    2014-09-13
    Publisher:
    American Association for the Advancement of Science (AAAS)
    Print ISSN:
    0036-8075
    Electronic ISSN:
    1095-9203
    Topics:
    Biology
    Chemistry and Pharmacology
    Computer Science
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Adult ; Animals ; B-Lymphocytes/immunology ; CTLA-4 Antigen/*genetics ; Female ; Forkhead Transcription Factors/immunology ; *Germ-Line Mutation ; *Haploinsufficiency ; Humans ; Immune System Diseases/*genetics ; Immunity/*genetics ; Male ; Mice ; Mice, Mutant Strains ; Pedigree ; T-Lymphocytes, Regulatory/immunology ; Young Adult
    Published by:
    http://www.aaas.org/

    Latest Papers from Table of Contents or Articles in Press
  4. 4
    Staff View
    Publication Date:
    2015-07-15
    Publisher:
    American Association for the Advancement of Science (AAAS)
    Print ISSN:
    0036-8075
    Electronic ISSN:
    1095-9203
    Topics:
    Biology
    Chemistry and Pharmacology
    Computer Science
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Alleles ; Animals ; Candida albicans/*immunology ; Candidiasis, Chronic Mucocutaneous/complications/*genetics/immunology ; Cattle ; Child ; Child, Preschool ; DNA Mutational Analysis ; Exome/genetics ; Female ; Gene Rearrangement, alpha-Chain T-Cell Antigen Receptor ; Humans ; Immunity/*genetics ; Interferon-gamma/immunology ; Interleukin-17/immunology ; Mice ; Mutation ; Mycobacterium bovis/immunology/isolation & purification ; Mycobacterium tuberculosis/immunology/isolation & purification ; Nuclear Receptor Subfamily 1, Group F, Member 3/*genetics ; Pedigree ; Receptors, Antigen, T-Cell, alpha-beta/genetics/immunology ; Receptors, Antigen, T-Cell, gamma-delta/genetics/immunology ; Severe Combined Immunodeficiency/*genetics ; T-Lymphocytes/immunology ; Thymus Gland/abnormalities/immunology ; Tuberculosis, Bovine/*genetics/immunology ; Tuberculosis, Pulmonary/*genetics/immunology
    Published by:
    http://www.aaas.org/

    Latest Papers from Table of Contents or Articles in Press
  5. 5
    Staff View
    Publication Date:
    2015-03-31
    Publisher:
    American Association for the Advancement of Science (AAAS)
    Print ISSN:
    0036-8075
    Electronic ISSN:
    1095-9203
    Topics:
    Biology
    Chemistry and Pharmacology
    Computer Science
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Child ; Dendritic Cells/immunology ; Female ; Fibroblasts/immunology ; Genes, Recessive ; *Heterozygote ; Humans ; Induced Pluripotent Stem Cells/immunology ; *Influenza A Virus, H1N1 Subtype ; Influenza, Human/complications/genetics/*immunology ; Interferon Regulatory Factor-7/*genetics ; Interferon Type I/*biosynthesis/genetics ; Leukocytes/immunology ; Lung/immunology ; Mutation ; Respiratory Distress Syndrome, Adult/genetics/*immunology/virology ; Respiratory Mucosa/immunology
    Published by:
    http://www.aaas.org/

    Latest Papers from Table of Contents or Articles in Press
  6. 6
    Staff View
    Publication Date:
    2018-10-02
    Publisher:
    Rockefeller University Press
    Print ISSN:
    0022-1007
    Electronic ISSN:
    1540-9538
    Topics:
    Medicine
    Keywords:
    Immunodeficiency, Innate Immunity and Inflammation, Human Disease Genetics
    Published by:
    http://www.rupress.org/

    Latest Papers from Table of Contents or Articles in Press
  7. 7
    Staff View
    Publication Date:
    2018-06-29
    Publisher:
    American Society of Hematology (ASH)
    Print ISSN:
    0006-4971
    Electronic ISSN:
    1528-0020
    Topics:
    Biology
    Medicine
    Keywords:
    Pediatric Hematology, Immunobiology and Immunotherapy, Transplantation, Clinical Trials and Observations
    Published by:
    http://www.hematology.org/

    Latest Papers from Table of Contents or Articles in Press
  8. 8
    Staff View
    Publication Date:
    2018-05-25
    Publisher:
    American Society of Hematology (ASH)
    Print ISSN:
    0006-4971
    Electronic ISSN:
    1528-0020
    Topics:
    Biology
    Medicine
    Keywords:
    Immunobiology and Immunotherapy
    Published by:
    http://www.hematology.org/

    Latest Papers from Table of Contents or Articles in Press
  9. 9
    Staff View
    Publication Date:
    2018-11-30
    Publisher:
    American Society of Hematology (ASH)
    Print ISSN:
    0006-4971
    Electronic ISSN:
    1528-0020
    Topics:
    Biology
    Medicine
    Keywords:
    Immunobiology and Immunotherapy
    Published by:
    http://www.hematology.org/

    Latest Papers from Table of Contents or Articles in Press
  10. 10
    Haddad, E., Logan, B. R., Griffith, L. M., Buckley, R. H., Parrott, R. E., Prockop, S. E., Small, T. N., Chaisson, J., Dvorak, C. C., Murnane, M., Kapoor, N., Abdel-Azim, H., Hanson, I. C., Martinez, C., Bleesing, J. J. H., Chandra, S., Smith, A. R., Cavanaugh, M. E., Jyonouchi, S., Sullivan, K. E., Burroughs, L., Skoda-Smith, S., Haight, A. E., Tumlin, A. G., Quigg, T. C., Taylor, C., Davila Saldana, B. J., Keller, M. D., Seroogy, C. M., Desantes, K. B., Petrovic, A., Leiding, J. W., Shyr, D. C., Decaluwe, H., Teira, P., Gillio, A. P., Knutsen, A. P., Moore, T. B., Kletzel, M., Craddock, J. A., Aquino, V., Davis, J. H., Yu, L. C., Cuvelier, G. D. E., Bednarski, J. J., Goldman, F. D., Kang, E. M., Shereck, E., Porteus, M. H., Connelly, J. A., Fleisher, T. A., Malech, H. L., Shearer, W. T., Szabolcs, P., Thakar, M. S., Vander Lugt, M. T., Heimall, J., Yin, Z., Pulsipher, M. A., Pai, S.-Y., Kohn, D. B., Puck, J. M., Cowan, M. J., O'Reilly, R. J., Notarangelo, L. D.
    American Society of Hematology (ASH)
    Published 2018
    Staff View
    Publication Date:
    2018-10-26
    Publisher:
    American Society of Hematology (ASH)
    Print ISSN:
    0006-4971
    Electronic ISSN:
    1528-0020
    Topics:
    Biology
    Medicine
    Keywords:
    Pediatric Hematology, Immunobiology and Immunotherapy, Transplantation, Plenary Papers
    Published by:
    http://www.hematology.org/

    Latest Papers from Table of Contents or Articles in Press
  11. 11
    Staff View
    Publication Date:
    2018-07-20
    Publisher:
    American Society of Hematology (ASH)
    Print ISSN:
    0006-4971
    Electronic ISSN:
    1528-0020
    Topics:
    Biology
    Medicine
    Keywords:
    Hematopoiesis and Stem Cells, Immunobiology and Immunotherapy
    Published by:
    http://www.hematology.org/

    Latest Papers from Table of Contents or Articles in Press
  12. 12
    Notarangelo, L. D.
    Rockefeller University Press
    Published 2018
    Staff View
    Publication Date:
    2018-09-04
    Publisher:
    Rockefeller University Press
    Print ISSN:
    0022-1007
    Electronic ISSN:
    1540-9538
    Topics:
    Medicine
    Published by:
    http://www.rupress.org/

    Latest Papers from Table of Contents or Articles in Press
  13. 13
    PLEBANI, A. ; NOTARANGELO, L. D. ; MONAFO, V. ; NESPOLI, L. ; UGAZIO, A.G.

    Oxford, UK : Blackwell Publishing Ltd
    Published 1984
    Staff View
    ISSN:
    1365-2222
    Source:
    Blackwell Publishing Journal Backfiles 1879-2005
    Topics:
    Medicine
    Notes:
    A new solid-phase immunoassay based on the biotin/avidin system (BAS) for measuring scrum Lolium perenne (LP)-specific IgE antibody is described. LP-specific IgE was assayed by the BAS assay and RAST for comparison in the sera of thirty-two normal asymptomatic subjects R AST-negative for LP and of twenty-six subjects with hay fever and R AST-positive for LP. The specificity of the BAS assay for LP-specific IgE was demonstrated by absorption experiments. An overall agreement of 91% (53/58) was observed between the BAS and RAST and a high correlation (r= 0.87. P 〈 0.001) was found between the LP-specific IgE determined by the two methods. The advantages of ihe BAS assay as compared to both the RAST and classical ELISA arc discussed.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1111/j.1365-2222.1984.tb02218.x

    Articles: DFG German National Licenses
  14. 14
    Badolato, R. ; Fontana, S. ; Barcella, L. ; Moratto, D. ; D'ippolito, C. ; Crovella, S. ; Notarangelo, L. D. ; Duse, M.

    Oxford, UK : Munksgaard International Publishers
    Published 2004
    Staff View
    ISSN:
    1398-9995
    Source:
    Blackwell Publishing Journal Backfiles 1879-2005
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1111/j.1398-9995.2004.00523.x

    Articles: DFG German National Licenses
  15. 15
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary Segregation analysis was performed in three families affected in X-linked agammaglobulinemia (XLA) with five polymorphic DNA probes linked to the disease locus. In agreement with previous studies, no recombination was observed with either pXG12 (DXS94) or S21 (DXS17). Segregation analysis was also performed with a marker, p212 (DXS178), which has been shown to be closely linked to pXG12 in normal families. No cross-over with XLA was observed in these three families and in five additional families previously analyzed with DXS17 and DXS94 (z = 5.92 at θ = 0). These data provide evidence against genetic heterogeneity in XLA and indicate the value of probe p212 for carrier detection and prenatal diagnosis of XLA. We were able to estimate the carrier status of six females (out of six) in the three previously unreported families.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00210664

    Articles: DFG German National Licenses
  16. 16
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary Whole-blood cells of obligate carriers of the X-linked Wiskott-Aldrich syndrome (WAS) exhibit nonrandom inactivation of the X-chromosomes. However, because of the limited polymorphism of the probes available, the X-methylation pattern can only be determined in a restricted proportion of females. We thus analysed a large set of normal females and members of WAS families, using the recently described marker M27β, which detects the hyperpolymorphic locus DXS255. The probe was used to detect differences in methylation between the active and inactive X-chromosome, and the findings were compared with the pattern obtained using the well-documented probes from the 5′ end of the PGK and HPRT genes. All the normal females were found to use either X-chromosome randomly, and there was complete correlation between the three probes in the populations studied. Segregation analysis performed with M27β and other related markers in the WAS families was fully in accordance with the X-inactivation data. The use of M27β, for both X-inactivation and segregation analysis of WAS kindreds, provides a basis for genetic counselling in the majority of families, including those with no surviving males.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00217127

    Articles: DFG German National Licenses
  17. 17
    Staff View
    ISSN:
    1432-1076
    Keywords:
    Adrenoleukodystrophy ; Carrier detection ; Very long chain fatty acids ; DNA probe
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract Diagnosis of X-linked adrenoleukodystrophy is based upon demonstration of high levels of very long chain fatty acids. More recently, in addition to biochemical analysis, closely linked DNA probe St14 has been used for prenatal diagnosis in informative families. Identification of heterozygotes is particularly important, both in order to specifically address only carrier females to prenatal diagnosis, and because appropriate dietary therapy is now available to treat those heterozygotes presenting with neurological symptoms. We report two pedigrees in which carrier detection was performed by a combination of biochemical and molecular genetic analysis. Such approach should allow extremely high accuracy in carrier detection.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF01959086

    Articles: DFG German National Licenses
  18. 18
    Staff View
    ISSN:
    1432-1076
    Keywords:
    Guillain-Barrè syndrome ; Intravenous immunoglobulin
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract Two children with Guillain-Barrè syndrome were succesfully treated with high-dose intravenous immunoglobulin (IVIG) and no relapses occurred over a 1 year follow up. No side-effects were observed. These data provide further evidence that IVIG may be safely and effectively employed in children with Guillain-Barrè syndrome.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF01956757

    Articles: DFG German National Licenses
  19. 19
    Staff View
    ISSN:
    1432-1076
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s004310050828

    Articles: DFG German National Licenses
  20. 20
    Staff View
    ISSN:
    1432-1076
    Keywords:
    Adenosine deaminase ; Immunodeficiency ; Auto-immunity ; Diabetes
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract We report a 2.3-year-old girl with complete lack of adenosine deaminase (ADA) activity who presented with severe atopic dermatitis and insulin-dependent diabetes mellitus but only mild recurrent infections. Abnormalities of immune function included profound depletion of CD8+ lymphocytes, hyperimmunoglobulinaemia E, and very low in vitro proliferative response to mitogens. Treatment with polyethylene glycol-conjugated ADA was followed by rapid amelioration of clinical and immunological conditions. The immunological and clinical features of this child suggest that the clinical spectrum of ADA deficiency may be broader than originally supposed.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF01957930

    Articles: DFG German National Licenses