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  • Annual Reviews  (5)
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  • Annual Reviews  (5)
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  • 1
    Online Resource
    Online Resource
    Human Genomics of COVID-19 Pneumonia: Contributions of Rare and Common Variants
    Annual Reviews ; 2023
    In:  Annual Review of Biomedical Data Science Vol. 6, No. 1 ( 2023-08-10), p. 465-486
    Details
    In: Annual Review of Biomedical Data Science, Annual Reviews, Vol. 6, No. 1 ( 2023-08-10), p. 465-486
    Abstract: SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) infection is silent or benign in most infected individuals, but causes hypoxemic COVID-19 pneumonia in about 10% of cases. We review studies of the human genetics of life-threatening COVID-19 pneumonia, focusing on both rare and common variants. Large-scale genome-wide association studies have identified more than 20 common loci robustly associated with COVID-19 pneumonia with modest effect sizes, some implicating genes expressed in the lungs or leukocytes. The most robust association, on chromosome 3, concerns a haplotype inherited from Neanderthals. Sequencing studies focusing on rare variants with a strong effect have been particularly successful, identifying inborn errors of type I interferon (IFN) immunity in 1–5% of unvaccinated patients with critical pneumonia, and their autoimmune phenocopy, autoantibodies against type I IFN, in another 15–20% of cases. Our growing understanding of the impact of human genetic variation on immunity to SARS-CoV-2 is enabling health systems to improve protection for individuals and populations.
    Type of Medium: Online Resource
    ISSN: 2574-3414 , 2574-3414
    URL: Issue
    URL: Article
    DOI: 10.1146/biodatasci.2023.6.issue-1
    DOI: 10.1146/annurev-biodatasci-020222-021705
    Language: English
    Publisher: Annual Reviews
    Publication Date: 2023
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    Online Resource
  • 2
    Online Resource
    Online Resource
    Genetic Dissection of Immunity to Mycobacteria: The Human Model
    Annual Reviews ; 2002
    In:  Annual Review of Immunology Vol. 20, No. 1 ( 2002-04), p. 581-620
    Details
    In: Annual Review of Immunology, Annual Reviews, Vol. 20, No. 1 ( 2002-04), p. 581-620
    Abstract: Humans are exposed to a variety of environmental mycobacteria (EM), and most children are inoculated with live Bacille Calmette-Guérin (BCG) vaccine. In addition, most of the world's population is occasionally exposed to human-borne mycobacterial species, which are less abundant but more virulent. Although rarely pathogenic, mildly virulent mycobacteria, including BCG and most EM, may cause a variety of clinical diseases. Mycobacterium tuberculosis, M. leprae, and EM M. ulcerans are more virulent, causing tuberculosis, leprosy, and Buruli ulcer, respectively. Remarkably, only a minority of individuals develop clinical disease, even if infected with virulent mycobacteria. The interindividual variability of clinical outcome is thought to result in part from variability in the human genes that control host defense. In this well-defined microbiological and clinical context, the principles of mouse immunology and the methods of human genetics can be combined to facilitate the genetic dissection of immunity to mycobacteria. The natural infections are unique to the human model, not being found in any of the animal models of experimental infection. We review current genetic knowledge concerning the simple and complex inheritance of predisposition to mycobacterial diseases in humans. Rare patients with Mendelian disorders have been found to be vulnerable to BCG, a few EM, and M. tuberculosis. Most cases of presumed Mendelian susceptibility to these and other mycobacterial species remain unexplained. In the general population leprosy and tuberculosis have been shown to be associated with certain human genetic polymorphisms and linked to certain chromosomal regions. The causal vulnerability genes themselves have yet to be identified and their pathogenic alleles immunologically validated. The studies carried out to date have been fruitful, initiating the genetic dissection of protective immunity against a variety of mycobacterial species in natural conditions of infection. The human model has potential uses beyond the study of mycobacterial infections and may well become a model of choice for the investigation of immunity to infectious agents.
    Type of Medium: Online Resource
    ISSN: 0732-0582 , 1545-3278
    URL: Issue
    URL: Article
    DOI: 10.1146/immunol.2002.20.issue-1
    DOI: 10.1146/annurev.immunol.20.081501.125851
    RVK:
    XA 10000
    Language: English
    Publisher: Annual Reviews
    Publication Date: 2002
    detail.hit.zdb_id: 1470451-1
    SSG: 12
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  • 3
    Online Resource
    Online Resource
    Human TLRs and IL-1Rs in Host Defense: Natural Insights from Evolutionary, Epidemiological, and Clinical Genetics
    Annual Reviews ; 2011
    In:  Annual Review of Immunology Vol. 29, No. 1 ( 2011-04-23), p. 447-491
    Details
    In: Annual Review of Immunology, Annual Reviews, Vol. 29, No. 1 ( 2011-04-23), p. 447-491
    Abstract: Toll-like receptors (TLRs) and interleukin-1 receptors (IL-1Rs) have TIR intracellular domains that engage two main signaling pathways, via the TIR-containing adaptors MyD88 (which is not used by TLR3) and TRIF (which is used only by TLR3 and TLR4). Extensive studies in inbred mice in various experimental settings have attributed key roles in immunity to TLR- and IL-1R-mediated responses, but what contribution do human TLRs and IL-1Rs actually make to host defense in the natural setting? Evolutionary genetic studies have shown that human intracellular TLRs have evolved under stronger purifying selection than surface-expressed TLRs, for which the frequency of missense and nonsense alleles is high in the general population. Epidemiological genetic studies have yet to provide convincing evidence of a major contribution of common variants of human TLRs, IL-1Rs, or their adaptors to host defense. Clinical genetic studies have revealed that rare mutations affecting the TLR3-TRIF pathway underlie herpes simplex virus encephalitis, whereas mutations in the TIR-MyD88 pathway underlie pyogenic bacterial diseases in childhood. A careful reconsideration of the contributions of TLRs and IL-1Rs to host defense in natura is required.
    Type of Medium: Online Resource
    ISSN: 0732-0582 , 1545-3278
    URL: Issue
    URL: Article
    DOI: 10.1146/immunol.2011.29.issue-1
    DOI: 10.1146/annurev-immunol-030409-101335
    RVK:
    XA 10000
    Language: English
    Publisher: Annual Reviews
    Publication Date: 2011
    detail.hit.zdb_id: 1470451-1
    SSG: 12
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  • 4
    Online Resource
    Online Resource
    The Genetic Theory of Infectious Diseases: A Brief History and Selected Illustrations
    Annual Reviews ; 2013
    In:  Annual Review of Genomics and Human Genetics Vol. 14, No. 1 ( 2013-08-31), p. 215-243
    Details
    In: Annual Review of Genomics and Human Genetics, Annual Reviews, Vol. 14, No. 1 ( 2013-08-31), p. 215-243
    Abstract: Until the mid-nineteenth century, life expectancy at birth averaged 20 years worldwide, owing mostly to childhood fevers. The germ theory of diseases then gradually overcame the belief that diseases were intrinsic. However, around the turn of the twentieth century, asymptomatic infection was discovered to be much more common than clinical disease. Paradoxically, this observation barely challenged the newly developed notion that infectious diseases were fundamentally extrinsic. Moreover, interindividual variability in the course of infection was typically explained by the emerging immunological (or somatic) theory of infectious diseases, best illustrated by the impact of vaccination. This powerful explanation is, however, best applicable to reactivation and secondary infections, particularly in adults; it can less easily account for interindividual variability in the course of primary infection during childhood. Population and clinical geneticists soon proposed a complementary hypothesis, a germline genetic theory of infectious diseases. Over the past century, this idea has gained some support, particularly among clinicians and geneticists, but has also encountered resistance, particularly among microbiologists and immunologists. We present here the genetic theory of infectious diseases and briefly discuss its history and the challenges encountered during its emergence in the context of the apparently competing but actually complementary microbiological and immunological theories. We also illustrate its recent achievements by highlighting inborn errors of immunity underlying eight life-threatening infectious diseases of children and young adults. Finally, we consider the far-reaching biological and clinical implications of the ongoing human genetic dissection of severe infectious diseases.
    Type of Medium: Online Resource
    ISSN: 1527-8204 , 1545-293X
    URL: Issue
    URL: Article
    DOI: 10.1146/genom.2013.14.issue-1
    DOI: 10.1146/annurev-genom-091212-153448
    Language: English
    Publisher: Annual Reviews
    Publication Date: 2013
    detail.hit.zdb_id: 2033916-1
    SSG: 12
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  • 5
    Online Resource
    Online Resource
    Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories
    Annual Reviews ; 2021
    In:  Annual Review of Pathology: Mechanisms of Disease Vol. 16, No. 1 ( 2021-01-24), p. 23-50
    Details
    In: Annual Review of Pathology: Mechanisms of Disease, Annual Reviews, Vol. 16, No. 1 ( 2021-01-24), p. 23-50
    Abstract: It was first demonstrated in the late nineteenth century that human deaths from fever were typically due to infections. As the germ theory gained ground, it replaced the old, unproven theory that deaths from fever reflected a weak personal or even familial constitution. A new enigma emerged at the turn of the twentieth century, when it became apparent that only a small proportion of infected individuals die from primary infections with almost any given microbe. Classical genetics studies gradually revealed that severe infectious diseases could be driven by human genetic predisposition. This idea gained ground with the support of molecular genetics, in three successive, overlapping steps. First, many rare inborn errors of immunity were shown, from 1985 onward, to underlie multiple, recurrent infections with Mendelian inheritance. Second, a handful of rare and familial infections, also segregating as Mendelian traits but striking humans resistant to other infections, were deciphered molecularly beginning in 1996. Third, from 2007 onward, a growing number of rare or common sporadicinfections were shown to result from monogenic, but not Mendelian, inborn errors. A synthesis of the hitherto mutually exclusive germ and genetic theories is now in view.
    Type of Medium: Online Resource
    ISSN: 1553-4006 , 1553-4014
    URL: Issue
    URL: Article
    DOI: 10.1146/pathmechdis.2021.16.issue-1
    DOI: 10.1146/annurev-pathol-031920-101429
    Language: English
    Publisher: Annual Reviews
    Publication Date: 2021
    detail.hit.zdb_id: 2217576-3
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