| 1. |
- Egg, David, et al.
(författare)
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Therapeutic options for CTLA-4 insufficiency
- 2022
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Ingår i: Journal of Allergy and Clinical Immunology. - : MOSBY-ELSEVIER. - 0091-6749 .- 1097-6825. ; 149:2, s. 736-746
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Tidskriftsartikel (refereegranskat)abstract
- Background: Heterozygous germline mutations in cytotoxic T lymphocyte-associated antigen-4 (CTLA4) impair the immunomodulatory function of regulatory T cells. Affected individuals are prone to life-threatening autoimmune and lymphoproliferative complications. A number of therapeutic options are currently being used with variable effectiveness. Objective: Our aim was to characterize the responsiveness of patients with CTLA-4 insufficiency to specific therapies and provide recommendations for the diagnostic workup and therapy at an organ-specific level. Methods: Clinical features, laboratory findings, and response to treatment were reviewed retrospectively in an international cohort of 173 carriers of CTLA4 mutation. Patients were followed between 2014 and 2020 for a total of 2624 months from diagnosis. Clinical manifestations were grouped on the basis of organ-specific involvement. Medication use and response were recorded and evaluated. Results: Among the 173 CTLA4 mutation carriers, 123 (71%) had been treated for immune complications. Abatacept, rituximab, sirolimus, and corticosteroids ameliorated disease severity, especially in cases of cytopenias and lymphocytic organ infiltration of the gut, lungs, and central nervous system. Immunoglobulin replacement was effective in prevention of infection. Only 4 of 16 patients (25%) with cytopenia who underwent splenectomy had a sustained clinical response. Cure was achieved with stem cell transplantation in 13 of 18 patients (72%). As a result of the aforementioned methods, organ-specific treatment pathways were developed. Conclusion: Systemic immunosuppressants and abatacept may provide partial control but require ongoing administration. Allogeneic hematopoietic stem cell transplantation offers a possible cure for patients with CTLA-4 insufficiency.
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| 2. |
- Maccari, Maria Elena, et al.
(författare)
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Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
- 2023
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Ingår i: The Journal of allergy and clinical immunology. - 1097-6825. ; 152:4, s. 984-996.e10
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Tidskriftsartikel (refereegranskat)abstract
- Activated phosphoinositide-3-kinase δ syndrome (APDS) is an inborn error of immunity (IEI) with infection susceptibility and immune dysregulation, clinically overlapping with other conditions. Management depends on disease evolution, but predictors of severe disease are lacking.This study sought to report the extended spectrum of disease manifestations in APDS1 versus APDS2; compare these to CTLA4 deficiency, NFKB1 deficiency, and STAT3 gain-of-function (GOF) disease; and identify predictors of severity in APDS.Data was collected from the ESID (European Society for Immunodeficiencies)-APDS registry and was compared with published cohorts of the other IEIs.The analysis of 170 patients with APDS outlines high penetrance and early onset of APDS compared to the other IEIs. The large clinical heterogeneity even in individuals with the same PIK3CD variant E1021K illustrates how poorly the genotype predicts the disease phenotype and course. The high clinical overlap between APDS and the other investigated IEIs suggests relevant pathophysiological convergence of the affected pathways. Preferentially affected organ systems indicate specific pathophysiology: bronchiectasis is typical of APDS1; interstitial lung disease and enteropathy are more common in STAT3 GOF and CTLA4 deficiency. Endocrinopathies are most frequent in STAT3 GOF, but growth impairment is also common, particularly in APDS2. Early clinical presentation is a risk factor for severe disease in APDS.APDS illustrates how a single genetic variant can result in a diverse autoimmune-lymphoproliferative phenotype. Overlap with other IEIs is substantial. Some specific features distinguish APDS1 from APDS2. Early onset is a risk factor for severe disease course calling for specific treatment studies in younger patients.
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| 3. |
- Díaz Reviriego, Isabel, et al.
(författare)
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Five years of IPBES : Reflecting the achievements and challenges and identifying needs for its review towards a 2nd work programme.
- 2018
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- On 17 to 19th October 2017, twenty-four academics and practitioners with diverse inter- and transdisciplinary experiences gathered for a workshop to collectively reflect on IPBES’ work and performance. The workshop was held at the German Centre for Integrative Biodiversity Research (iDiv) in Leipzig. The workshop and this report represent an effort to proactively contribute to IPBES’ ongoing (external) review process. The external review process opens up a window of opportunity towards re-thinking the very purpose of IPBES and identifying new pathways to live up to its initial ambitions, such as to move beyond assessments. The workshop identified a spectrum of potential opportunities, provided visions for the future work of IPBES, and collected insights into how to cope with them. While the workshop focussed on identifying future challenges and possible solutions, all participants underlined the great achievements that IPBES has already accomplished. This report provides a synthesis of the workshop discussions. The main recommendations for the external review were: - The external review should seize the opportunity to establish itself in a responsive and future-oriented way so that it not only assesses past performance but also facilitates learning and identifies new pathways for IPBES. It is important that the focus of the review is not just on the extent to which IPBES has fulfilled its ambitions but also on the efficiency with which it has done this, and on the potential unintended effects of decisions. - For IPBES to achieve its initial ambitions, strengthening the (mainly global-scale) scientific knowledge base behind assessments is necessary but not yet sufficient. To meet its broader set of goals, it is required to pay critical attention to all aspects of policy support, knowledge generation and capacity-building, including the meaningful participation of Indigenous Peoples and Local Communities and the incorporation of local and indigenous knowledge. This will require building synergies between knowledge systems, promoting the engagement of the social sciences and humanities, and addressing current challenges in the nomination and selection procedures for the identification of experts. - The external review also opens up space to identify a full range of alternative options and choices that are available when reforming IPBES. The review should engage in real-world dialogues and liaise closely with partners from research, policy and practice as well as with national platforms and local actors.
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| 4. |
- Fischer, Markus, et al.
(författare)
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The regional assessment report on biodiversity and ecosystem services for Europe and Central Asia : summary for policymakers
- 2018
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- The Regional Assessment Report on Biodiversity and Ecosystem Services for Europe and Central Asia produced by the Intergovernmental Science-Policy Platform on Biodiversity and Ecosystem Services (IPBES) provides a critical analysis of the state of knowledge regarding the importance, status, and trends of biodiversity and nature's contributions to people. The assessment analyses the direct and underlying causes for the observed changes in biodiversity and in nature's contributions to people, and the impact that these changes have on the quality of life of people. The assessment, finally, identifies a mix of governance options, policies and management practices that are currently available to reduce the loss of biodiversity and of nature's contributions to people in that region. The assessment addresses terrestrial, freshwater, and coastal biodiversity and covers current status and trends, going back in time several decades, and future projections, with a focus on the 2020-2050 period.
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| 5. |
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| 6. |
- Harrison, Paula A., et al.
(författare)
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Synthesizing plausible futures for biodiversity and ecosystem services in Europe and Central Asia using scenario archetypes
- 2019
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Ingår i: Ecology & Society. - 1708-3087. ; 24:2
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Tidskriftsartikel (refereegranskat)abstract
- Scenarios are a useful tool to explore possible futures of social-ecological systems. The number of scenarios has increased dramatically over recent decades, with a large diversity in temporal and spatial scales, purposes, themes, development methods, and content. Scenario archetypes generically describe future developments and can be useful in meaningfully classifying scenarios, structuring and summarizing the overwhelming amount of information, and enabling scientific outputs to more effectively interface with decision-making frameworks. The Intergovernmental Platform for Biodiversity and Ecosystem Services (IPBES) faced this challenge and used scenario archetypes in its assessment of future interactions between nature and society. We describe the use of scenario archetypes in the IPBES Regional Assessment of Europe and Central Asia. Six scenario archetypes for the region are described in terms of their driver assumptions and impacts on nature (including biodiversity) and its contributions to people (including ecosystem services): business-as-usual, economic optimism, regional competition, regional sustainability, global sustainable development, and inequality. The analysis shows that trade-offs between nature's contributions to people are projected under different scenario archetypes. However, the means of resolving these trade-offs depend on differing political and societal value judgements within each scenario archetype. Scenarios that include proactive decision making on environmental issues, environmental management approaches that support multifunctionality, and mainstreaming environmental issues across sectors, are generally more successful in mitigating tradeoffs than isolated environmental policies. Furthermore, those scenario archetypes that focus on achieving a balanced supply of nature's contributions to people and that incorporate a diversity of values are estimated to achieve more policy goals and targets, such as the UN Sustainable Development Goals and the Convention on Biological Diversity Aichi targets. The scenario archetypes approach is shown to be helpful in supporting science-policy dialogue for proactive decision making that anticipates change, mitigates undesirable trade-offs, and fosters societal transformation in pursuit of sustainable development.
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| 7. |
- Hulme, Mike, et al.
(författare)
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Letter: Science-Policy Interface: Beyond Assessments
- 2011
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Ingår i: Science. - : American Association for the Advancement of Science. - 0036-8075 .- 1095-9203. ; 333:6043, s. 697-698
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 8. |
- Pereira, Laura M., et al.
(författare)
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Developing multiscale and integrative nature-people scenarios using the Nature Futures Framework
- 2020
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Ingår i: People and Nature. - : Wiley. - 2575-8314. ; 2:4, s. 1172-1195
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Tidskriftsartikel (refereegranskat)abstract
- 1. Scientists have repeatedly argued that transformative, multiscale global scenarios are needed as tools in the quest to halt the decline of biodiversity and achieve sustainability goals.2. As a first step towards achieving this, the researchers who participated in the scenarios and models expert group of the Intergovernmental Science-Policy Platform on Biodiversity and Ecosystem Services (IPBES) entered into an iterative, participatory process that led to the development of the Nature Futures Framework (NFF).3. The NFF is a heuristic tool that captures diverse, positive relationships of humans with nature in the form of a triangle. It can be used both as a boundary object for continuously opening up more plural perspectives in the creation of desirable nature scenarios and as an actionable framework for developing consistent nature scenarios across multiple scales.4. Here we describe the methods employed to develop the NFF and how it fits into a longer term process to create transformative, multiscale scenarios for nature. We argue that the contribution of the NFF is twofold: (a) its ability to hold a plurality of perspectives on what is desirable, which enables the development of joint goals and visions and recognizes the possible convergence and synergies of measures to achieve these visions and (b), its multiscale functionality for elaborating scenarios and models that can inform decision-making at relevant levels, making it applicable across specific places and perspectives on nature.5. If humanity is to achieve its goal of a more sustainable and prosperous future rooted in a flourishing nature, it is critical to open up a space for more plural perspectives of human-nature relationships. As the global community sets out to develop new goals for biodiversity, the NFF can be used as a navigation tool helping to make diverse, desirable futures possible.
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| 9. |
- Ring, Irene, et al.
(författare)
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Chapter 6: Options for governance and decision-making across scales and sectors
- 2018
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Ingår i: IPBES. - Bonn : Secretariat of the Intergovernmental Science-Policy Platform on Biodiversity and Ecosystem services. - 9783947851089 ; , s. 661-802
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Within the generic scope of the Regional Assessments of Biodiversity and Ecosystem Services, the key policy‑relevant questions of the Europe and Central Asia Assessment concern options and opportunities with regard to biodiversity and ecosystem services and their role for human well-being. The assessment examines the opportunities for sectoral policies and policy instruments; managing production, consumption and economic development; and ecological infrastructures and ecological technologies. It explores opportunities to promote food security, economic development and equality while avoiding land and aquatic degradation and conserving cultural landscapes.
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| 10. |
- Rosa, Isabel M. D., et al.
(författare)
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Multiscale scenarios for nature futures
- 2017
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Ingår i: Nature Ecology & Evolution. - : Springer Science and Business Media LLC. - 2397-334X. ; 1:10, s. 1416-1419
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Targets for human development are increasingly connected with targets for nature, however, existing scenarios do not explicitly address this relationship. Here, we outline a strategy to generate scenarios centred on our relationship with nature to inform decision-making at multiple scales.
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