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  1. Book: Combined immunodeficiency associated with DOCK8 mutations and related immunodeficiencies

    Su, Helen C.

    (Disease markers ; 29,3/4)

    2010  

    Author's details guest ed.: Helen C. Su
    Series title Disease markers ; 29,3/4
    Collection
    Language English
    Size S. 121 - 206 : Ill., graph. Darst.
    Publisher IOS Press
    Publishing place Amsterdam u.a.
    Publishing country Netherlands
    Document type Book
    HBZ-ID HT016900307
    ISBN 978-1-60750-693-5 ; 1-60750-693-9
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    Zs A 1856 -29- not available for loan Zeitschriften-Lesesaal

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  2. Article ; Online: Insights into the pathogenesis of allergic disease from dedicator of cytokinesis 8 deficiency.

    Su, Helen C

    Current opinion in immunology

    2022  Volume 80, Page(s) 102277

    Abstract: Clinical observations and mechanistic studies in dedicator of cytokinesis 8 (DOCK8)-deficient patients and mice have revealed multiple mechanisms that could contribute to their unusually prevalent and severe allergic disease manifestations. Physical ... ...

    Abstract Clinical observations and mechanistic studies in dedicator of cytokinesis 8 (DOCK8)-deficient patients and mice have revealed multiple mechanisms that could contribute to their unusually prevalent and severe allergic disease manifestations. Physical interactions of DOCK8 with STAT3 in B cells and T cells may contribute to increased IgE isotype switching or defective immune synapse formation that decreases T-cell receptor signal strength. A newly discovered T
    MeSH term(s) Animals ; Mice ; Cytokinesis ; Guanine Nucleotide Exchange Factors/genetics ; Guanine Nucleotide Exchange Factors/metabolism ; Hypersensitivity ; Immunity, Innate ; Immunologic Deficiency Syndromes ; Interleukin-13 ; Lymphocytes/metabolism
    Chemical Substances Dock8 protein, mouse ; Guanine Nucleotide Exchange Factors ; Interleukin-13 ; DOCK8 protein, human
    Language English
    Publishing date 2022-12-09
    Publishing country England
    Document type Journal Article ; Review ; Research Support, N.I.H., Intramural
    ZDB-ID 1035767-1
    ISSN 1879-0372 ; 0952-7915
    ISSN (online) 1879-0372
    ISSN 0952-7915
    DOI 10.1016/j.coi.2022.102277
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  3. Article ; Online: Editorial overview: Human inborn errors of immunity to infection.

    Su, Helen C / Casanova, Jean-Laurent

    Current opinion in immunology

    2021  Volume 72, Page(s) iii–v

    MeSH term(s) Biomarkers ; Genetic Diseases, Inborn/complications ; Genetic Diseases, Inborn/genetics ; Genetic Predisposition to Disease ; Host-Pathogen Interactions/genetics ; Host-Pathogen Interactions/immunology ; Humans ; Immunity/genetics ; Infections/etiology
    Chemical Substances Biomarkers
    Language English
    Publishing date 2021-10-22
    Publishing country England
    Document type Editorial ; Introductory Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1035767-1
    ISSN 1879-0372 ; 0952-7915
    ISSN (online) 1879-0372
    ISSN 0952-7915
    DOI 10.1016/j.coi.2021.10.002
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  4. Article ; Online: The Influence of Immune Immaturity on Outcome After Virus Infections.

    Shaw, Elana R / Su, Helen C

    The journal of allergy and clinical immunology. In practice

    2021  Volume 9, Issue 2, Page(s) 641–650

    Abstract: Maturation of the adaptive immune response is typically thought to improve outcome to virus infections. However, long-standing observations of natural infections with old viruses such as Epstein-Barr virus and newer observations of emerging viruses such ... ...

    Abstract Maturation of the adaptive immune response is typically thought to improve outcome to virus infections. However, long-standing observations of natural infections with old viruses such as Epstein-Barr virus and newer observations of emerging viruses such as severe acute respiratory syndrome coronavirus 2 responsible for COVID-19 suggest that immune immaturity may be beneficial for outcome. Mechanistic studies and studies of patients with inborn errors of immunity have revealed that immune dysregulation reflecting inappropriate antibody and T-cell responses plays a crucial role in causing bystander inflammation and more severe disease. Further evidence supports a role for innate immunity in normally regulating adaptive immune responses. Thus, changes in immune responses that normally occur with age may help explain an apparent protective role of immune immaturity during virus infections.
    MeSH term(s) Adaptive Immunity ; Aging/immunology ; Animals ; Humans ; Immunity, Innate ; Virus Diseases/immunology
    Language English
    Publishing date 2021-02-08
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2843237-X
    ISSN 2213-2201 ; 2213-2198
    ISSN (online) 2213-2201
    ISSN 2213-2198
    DOI 10.1016/j.jaip.2020.11.016
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  5. Article ; Online: Interfering with Interferons: A Critical Mechanism for Critical COVID-19 Pneumonia.

    Su, Helen C / Jing, Huie / Zhang, Yu / Casanova, Jean-Laurent

    Annual review of immunology

    2023  Volume 41, Page(s) 561–585

    Abstract: Infection with SARS-CoV-2 results in clinical outcomes ranging from silent or benign infection in most individuals to critical pneumonia and death in a few. Genetic studies in patients have established that critical cases can result from inborn errors of ...

    Abstract Infection with SARS-CoV-2 results in clinical outcomes ranging from silent or benign infection in most individuals to critical pneumonia and death in a few. Genetic studies in patients have established that critical cases can result from inborn errors of TLR3- or TLR7-dependent type I interferon immunity, or from preexisting autoantibodies neutralizing primarily IFN-α and/or IFN-ω. These findings are consistent with virological studies showing that multiple SARS-CoV-2 proteins interfere with pathways of induction of, or response to, type I interferons. They are also congruent with cellular studies and mouse models that found that type I interferons can limit SARS-CoV-2 replication in vitro and in vivo, while their absence or diminution unleashes viral growth. Collectively, these findings point to insufficient type I interferon during the first days of infection as a general mechanism underlying critical COVID-19 pneumonia, with implications for treatment and directions for future research.
    MeSH term(s) Mice ; Humans ; Animals ; Interferons/pharmacology ; COVID-19 ; SARS-CoV-2 ; Interferon Type I
    Chemical Substances Interferons (9008-11-1) ; Interferon Type I
    Language English
    Publishing date 2023-05-01
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 604953-9
    ISSN 1545-3278 ; 0732-0582
    ISSN (online) 1545-3278
    ISSN 0732-0582
    DOI 10.1146/annurev-immunol-101921-050835
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  6. Article ; Online: The Growing Spectrum of Human Diseases Caused by Inherited CDC42 Mutations.

    Su, Helen C / Orange, Jordan S

    Journal of clinical immunology

    2020  Volume 40, Issue 4, Page(s) 551–553

    Abstract: Several recent studies provide valuable new information that expands the spectrum of human disease associated with mutations in CDC42. ...

    Abstract Several recent studies provide valuable new information that expands the spectrum of human disease associated with mutations in CDC42.
    MeSH term(s) Genetic Association Studies ; Humans ; Immune System Diseases/genetics ; Mutation/genetics ; Phenotype ; cdc42 GTP-Binding Protein/genetics
    Chemical Substances CDC42 protein, human (EC 3.6.5.2) ; cdc42 GTP-Binding Protein (EC 3.6.5.2)
    Language English
    Publishing date 2020-07-02
    Publishing country Netherlands
    Document type Editorial ; Introductory Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-020-00785-8
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  7. Article ; Online: Genetic determinants of host immunity against human rhinovirus infections.

    Lamborn, Ian T / Su, Helen C

    Human genetics

    2020  Volume 139, Issue 6-7, Page(s) 949–959

    Abstract: ... in CDHR3 that encodes the cellular receptor for RV-C entry. Here, we provide a comprehensive review ...

    Abstract Human rhinoviruses (RV) are a frequent cause of respiratory tract infections with substantial morbidity and mortality in some patients. Nevertheless, the genetic basis of susceptibility to RV in humans has been relatively understudied. Experimental infections of mice and in vitro infections of human cells have indicated that various pathogen recognition receptors (TLRs, RIG-I, and MDA5) regulate innate immune responses to RV. However, deficiency of MDA5 is the only one among these so far uncovered that confers RV susceptibility in humans. Other work has shown increased RV susceptibility in patients with a polymorphism in CDHR3 that encodes the cellular receptor for RV-C entry. Here, we provide a comprehensive review of the genetic determinants of human RV susceptibility in the context of what is known about RV biology.
    MeSH term(s) Host-Pathogen Interactions/genetics ; Host-Pathogen Interactions/immunology ; Humans ; Picornaviridae Infections/complications ; Picornaviridae Infections/immunology ; Picornaviridae Infections/virology ; Respiratory Tract Infections/genetics ; Respiratory Tract Infections/immunology ; Respiratory Tract Infections/virology ; Rhinovirus/immunology ; Rhinovirus/pathogenicity
    Language English
    Publishing date 2020-02-29
    Publishing country Germany
    Document type Journal Article ; Review
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    DOI 10.1007/s00439-020-02137-3
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  8. Article ; Online: A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection.

    Casanova, Jean-Laurent / Su, Helen C

    Cell

    2020  Volume 181, Issue 6, Page(s) 1194–1199

    Abstract: SARS-CoV-2 infection displays immense inter-individual clinical variability, ranging from silent infection to lethal disease. The role of human genetics in determining clinical response to the virus remains unclear. Studies of outliers-individuals ... ...

    Abstract SARS-CoV-2 infection displays immense inter-individual clinical variability, ranging from silent infection to lethal disease. The role of human genetics in determining clinical response to the virus remains unclear. Studies of outliers-individuals remaining uninfected despite viral exposure and healthy young patients with life-threatening disease-present a unique opportunity to reveal human genetic determinants of infection and disease.
    MeSH term(s) Age Factors ; Betacoronavirus/physiology ; COVID-19 ; Coronavirus Infections/epidemiology ; Coronavirus Infections/genetics ; Coronavirus Infections/immunology ; Coronavirus Infections/physiopathology ; Disease Resistance ; Genetic Association Studies ; Genetic Diseases, Inborn/immunology ; Genetic Predisposition to Disease ; Genetic Variation ; Genome, Human ; Host-Pathogen Interactions ; Humans ; Infections/genetics ; Infections/immunology ; Infections/physiopathology ; Pandemics ; Pneumonia, Viral/epidemiology ; Pneumonia, Viral/genetics ; Pneumonia, Viral/immunology ; Pneumonia, Viral/physiopathology ; SARS-CoV-2
    Keywords covid19
    Language English
    Publishing date 2020-05-13
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 187009-9
    ISSN 1097-4172 ; 0092-8674
    ISSN (online) 1097-4172
    ISSN 0092-8674
    DOI 10.1016/j.cell.2020.05.016
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  9. Article: Paradoxical dominant negative activity of an immunodeficiency-associated activating

    Tomlinson, Patsy R / Knox, Rachel / Perisic, Olga / Su, Helen C / Brierley, Gemma V / Williams, Roger L / Semple, Robert K

    bioRxiv : the preprint server for biology

    2023  

    Abstract: ... ...

    Abstract PIK3R1
    Language English
    Publishing date 2023-12-13
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.11.02.565250
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: New immunodeficiency syndromes that help us understand the IFN-mediated antiviral immune response.

    Jing, Huie / Su, Helen C

    Current opinion in pediatrics

    2019  Volume 31, Issue 6, Page(s) 815–820

    Abstract: Purpose of review: Studying primary immunodeficiencies (PIDs) provides insights into human antiviral immunity in the natural infectious environment. This review describes new PIDs with genetic defects that impair innate antiviral responses.: Recent ... ...

    Abstract Purpose of review: Studying primary immunodeficiencies (PIDs) provides insights into human antiviral immunity in the natural infectious environment. This review describes new PIDs with genetic defects that impair innate antiviral responses.
    Recent findings: New genetic defects in the interferon (IFN) signaling pathway include IFNAR1 deficiency, which causes uncontrolled infections with measles-mumps-rubella or yellow fever vaccines, and possibly also cytomegalovirus (CMV); and IRF9 deficiency, which results in influenza virus susceptibility. Genetic defects in several pattern recognition receptors include MDA5 deficiency, which impairs viral RNA sensing and confers human rhinovirus susceptibility; RNA polymerase III haploinsufficiency, which impairs sensing of A:T-rich virus DNA and confers VZV susceptibility; and TLR3 deficiency, which causes HSV-1 encephalitis (HSE) or influenza virus pneumonitis. Defects in RNA metabolism, such as that caused by Debranching enzyme 1 deficiency, can cause virus meningoencephalitis. Finally, defects in host restriction factors for virus replication, such as in CIB1 deficiency, contribute to uncontrolled β-HPV infections.
    Summary: Several new PIDs highlight the role of type I/III IFN signaling pathway, virus sensors, and host virus restriction factors in human antiviral immunity.
    MeSH term(s) Antiviral Agents/therapeutic use ; Humans ; Immunity, Innate/drug effects ; Influenza, Human ; Interferon Type I/deficiency ; Interferon Type I/genetics ; Primary Immunodeficiency Diseases/drug therapy ; Signal Transduction
    Chemical Substances Antiviral Agents ; Interferon Type I
    Language English
    Publishing date 2019-12-15
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Review
    ZDB-ID 1049374-8
    ISSN 1531-698X ; 1040-8703
    ISSN (online) 1531-698X
    ISSN 1040-8703
    DOI 10.1097/MOP.0000000000000827
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