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  1. Book: The year in human and medical genetics / 2 / iss. ed. Jean-Laurent Casanova ...

    Casanova, Jean-Laurent / Conley, Mary Ellen / Notarangelo, Luigi D.

    inborn errors of immunity

    (Annals of the New York Academy of Science ; 1246)

    2011  

    Series title Annals of the New York Academy of Science ; 1246
    The year in human and medical genetics
    Annals of the New York Academy of Sciences
    Collection The year in human and medical genetics
    Annals of the New York Academy of Sciences
    Language English
    Size 141 S. : Ill., graph. Darst.
    Publisher Blackwell
    Publishing place Boston, Mass
    Publishing country United States
    Document type Book
    HBZ-ID HT017125179
    ISBN 1-57331-851-5 ; 978-1-57331-851-8
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    Se 110 -1246- verfügbar in Königswinter Königswinter

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  2. Book: The year in human and medical genetics / 3 / iss. ed. Jean-Laurent Casanova ; Mary Ellen Conley and Luigi Notarangelo

    Casanova, Jean-Laurent / Conley, Mary Ellen / Notarangelo, Luigi D.

    inborn errors of immunity

    (Annals of the New York Academy of Science ; 1250)

    2012  

    Series title Annals of the New York Academy of Science ; 1250
    Annals of the New York Academy of Sciences
    The year in human and medical genetics
    Collection Annals of the New York Academy of Sciences
    The year in human and medical genetics
    Language English
    Size 79 S. : Ill., graph. Darst.
    Publisher Blackwell
    Publishing place Boston, Mass
    Publishing country United States
    Document type Book
    HBZ-ID HT017192386
    ISBN 1-57331-878-7 ; 978-1-57331-878-5
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    Se 110 -1250- verfügbar in Königswinter Königswinter

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  3. Book: The year in human and medical genetics / 1 / iss. ed. Jean-Laurent Casanova ; Mary Ellen Conley and Luigi Notarangelo

    Casanova, Jean-Laurent / Conley, Mary Ellen / Notarangelo, Luigi D.

    inborn errors of immunity

    (Annals of the New York Academy of Science ; 1238)

    2011  

    Series title Annals of the New York Academy of Science ; 1238
    Annals of the New York Academy of Sciences
    The year in human and medical genetics
    Collection Annals of the New York Academy of Sciences
    The year in human and medical genetics
    Language English
    Size 144 S. : Ill., graph. Darst.
    Publisher Blackwell
    Publishing place Boston, Mass
    Publishing country United States
    Document type Book
    HBZ-ID HT017090462
    ISBN 1-57331-849-3 ; 978-1-57331-849-5
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    Se 110 -1238- verfügbar in Königswinter Königswinter

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  4. Article ; Online: From second thoughts on the germ theory to a full-blown host theory.

    Casanova, Jean-Laurent

    Proceedings of the National Academy of Sciences of the United States of America

    2023  Volume 120, Issue 26, Page(s) e2301186120

    Abstract: In 1955, René Dubos famously expressed his "second thoughts on the germ theory", attributing infectious diseases to various "changing circumstances" that weaken the host by unknown mechanisms. He rightly stressed that only a small minority of individuals ...

    Abstract In 1955, René Dubos famously expressed his "second thoughts on the germ theory", attributing infectious diseases to various "changing circumstances" that weaken the host by unknown mechanisms. He rightly stressed that only a small minority of individuals infected by almost any microbe develop clinical disease. Intriguingly, though, he did not mention the abundant and elegant findings reported from 1905 onward that unambiguously pointed to host genetic determinants of infection outcome in plants and animals, including human inborn errors of immunity. Diverse findings over the next 50 y corroborated and extended these earlier genetic and immunological observations that René Dubos had neglected. Meanwhile, the sequential advent of immunosuppression- and HIV-driven immunodeficiencies unexpectedly provided a mechanistic basis for his own views. Collectively, these two lines of evidence support a host theory of infectious diseases, with inherited and acquired immunodeficiencies as the key determinants of severe infection outcome, relegating the germ to an environmental trigger that reveals an underlying and preexisting cause of disease and death.
    MeSH term(s) Animals ; Male ; Humans ; Acquired Immunodeficiency Syndrome ; Cocaine ; Immunosuppression Therapy ; Minority Groups
    Chemical Substances Cocaine (I5Y540LHVR)
    Language English
    Publishing date 2023-06-12
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 209104-5
    ISSN 1091-6490 ; 0027-8424
    ISSN (online) 1091-6490
    ISSN 0027-8424
    DOI 10.1073/pnas.2301186120
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1148: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  5. Article ; Online: Gérard Orth: From Viral to Human Genes Underlying Warts.

    Casanova, Jean-Laurent / Jouanguy, Emmanuelle

    Journal of clinical immunology

    2024  Volume 44, Issue 5, Page(s) 106

    MeSH term(s) Humans ; Warts/genetics ; History, 20th Century ; History, 21st Century
    Language English
    Publishing date 2024-04-27
    Publishing country Netherlands
    Document type Historical Article ; Interview ; Biography ; Portrait ; Editorial
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-024-01704-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1640: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  6. Article ; Online: Convalescent Plasma for Covid-19-Induced ARDS.

    Borghesi, Alessandro / Casanova, Jean-Laurent

    The New England journal of medicine

    2024  Volume 390, Issue 4, Page(s) 384–385

    MeSH term(s) Humans ; Respiration, Artificial ; COVID-19 ; COVID-19 Serotherapy ; Plasma ; Respiratory Distress Syndrome
    Language English
    Publishing date 2024-01-24
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    DOI 10.1056/NEJMc2313675
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ua VI Zs.34: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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  7. Book: The year in human and medical genetics

    Casanova, Jean-Laurent

    new trends in Mendelian genetics

    (Annals of the New York Academy of Sciences ; 1214)

    2010  

    Author's details iss. ed. Jean-Laurent Casanova
    Series title Annals of the New York Academy of Sciences ; 1214
    Collection
    Language English
    Size 213 S. : Ill., graph. Darst.
    Publisher Blackwell u.a.
    Publishing place Boston, Mass
    Publishing country United States
    Document type Book
    HBZ-ID HT016781338
    ISBN 1-57331-789-6 ; 978-1-57331-789-4
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    Se 110 -1214- verfügbar in Königswinter Königswinter

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  8. Article ; Online: Foreword to the English Translation of Kostmann's Memoirs.

    Casanova, Jean-Laurent / Hammarström, Lennart

    Journal of clinical immunology

    2023  Volume 43, Issue 4, Page(s) 671–674

    MeSH term(s) Humans ; Neutropenia ; Syndrome
    Language English
    Publishing date 2023-04-03
    Publishing country Netherlands
    Document type Editorial
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-023-01446-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1640: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  9. Article ; Online: Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs.

    Casanova, Jean-Laurent / Anderson, Mark S

    The Journal of clinical investigation

    2023  Volume 133, Issue 3

    Abstract: Since 2003, rare inborn errors of human type I IFN immunity have been discovered, each underlying a few severe viral illnesses. Autoantibodies neutralizing type I IFNs due to rare inborn errors of autoimmune regulator (AIRE)-driven T cell tolerance were ... ...

    Abstract Since 2003, rare inborn errors of human type I IFN immunity have been discovered, each underlying a few severe viral illnesses. Autoantibodies neutralizing type I IFNs due to rare inborn errors of autoimmune regulator (AIRE)-driven T cell tolerance were discovered in 2006, but not initially linked to any viral disease. These two lines of clinical investigation converged in 2020, with the discovery that inherited and/or autoimmune deficiencies of type I IFN immunity accounted for approximately 15%-20% of cases of critical COVID-19 pneumonia in unvaccinated individuals. Thus, insufficient type I IFN immunity at the onset of SARS-CoV-2 infection may be a general determinant of life-threatening COVID-19. These findings illustrate the unpredictable, but considerable, contribution of the study of rare human genetic diseases to basic biology and public health.
    MeSH term(s) Humans ; COVID-19 ; SARS-CoV-2 ; Interferon Type I/genetics ; Virus Diseases ; Autoantibodies
    Chemical Substances Interferon Type I ; Autoantibodies
    Language English
    Publishing date 2023-02-01
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 3067-3
    ISSN 1558-8238 ; 0021-9738
    ISSN (online) 1558-8238
    ISSN 0021-9738
    DOI 10.1172/JCI166283
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ua VI Zs.184: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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  10. Article: Genetics and clinical phenotypes in common variable immunodeficiency.

    Cunningham-Rundles, Charlotte / Casanova, Jean-Laurent / Boisson, Bertrand

    Frontiers in genetics

    2024  Volume 14, Page(s) 1272912

    Abstract: Common variable immunodeficiency (CVID) is one of the most common symptomatic groups of inborn errors of immunity. In addition to infections resulting from insufficient levels of immune globulins and antibodies, many patients develop inflammatory or ... ...

    Abstract Common variable immunodeficiency (CVID) is one of the most common symptomatic groups of inborn errors of immunity. In addition to infections resulting from insufficient levels of immune globulins and antibodies, many patients develop inflammatory or autoimmune conditions, which are associated with increased mortality. This aspect of CVID has been the focus of many studies, and dissecting the clinical phenotypes of CVID, has had the goal of providing biomarkers to identify these subjects, potentially at the time of diagnosis. With the application of whole exome (WES) and whole genome analyses, an increasing number of monogenic causes of CVID have been elucidated. From the standpoint of the practicing physician, an important question is whether the clinical phenotype, particularly the occurrence of autoinflammation of autoimmunity, might suggest the likelihood of identifying a causative mutation, and if possible the gene most likely to underlie CVID. We addressed this question in a patient group of 405 subjects diagnosed with CVID from one medical center.
    Language English
    Publishing date 2024-01-11
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2023.1272912
    Database MEDical Literature Analysis and Retrieval System OnLINE

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