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- Matuozzo, D, et al.
(author)
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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
- 2022
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In: medRxiv : the preprint server for health sciences. - : Cold Spring Harbor Laboratory.
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Journal article (other academic/artistic)abstract
- BackgroundWe previously reported inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity in 1-5% of unvaccinated patients with life-threatening COVID-19, and auto-antibodies against type I IFN in another 15-20% of cases.MethodsWe report here a genome-wide rare variant burden association analysis in 3,269 unvaccinated patients with life-threatening COVID-19 (1,301 previously reported and 1,968 new patients), and 1,373 unvaccinated SARS-CoV-2-infected individuals without pneumonia. A quarter of the patients tested had antibodies against type I IFN (234 of 928) and were excluded from the analysis.ResultsNo gene reached genome-wide significance. Under a recessive model, the most significant gene with at-risk variants wasTLR7, with an OR of 27.68 (95%CI:1.5-528.7,P=1.1×10−4), in analyses restricted to biochemically loss-of-function (bLOF) variants. We replicated the enrichment in rare predicted LOF (pLOF) variants at 13 influenza susceptibility loci involved in TLR3-dependent type I IFN immunity (OR=3.70 [95%CI:1.3-8.2],P=2.1×10−4). Adding the recently reportedTYK2COVID-19 locus strengthened this enrichment, particularly under a recessive model (OR=19.65 [95%CI:2.1-2635.4];P=3.4×10−3). When these 14 loci andTLR7were considered, all individuals hemizygous (n=20) or homozygous (n=5) for pLOF or bLOF variants were patients (OR=39.19 [95%CI:5.2-5037.0],P=4.7×10−7), who also showed an enrichment in heterozygous variants (OR=2.36 [95%CI:1.0-5.9],P=0.02). Finally, the patients with pLOF or bLOF variants at these 15 loci were significantly younger (mean age [SD]=43.3 [20.3] years) than the other patients (56.0 [17.3] years;P=1.68×10−5).ConclusionsRare variants of TLR3- and TLR7-dependent type I IFN immunity genes can underlie life-threatening COVID-19, particularly with recessive inheritance, in patients under 60 years old.
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- Aad, G, et al.
(author)
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Measurements of the Higgs boson inclusive and differential fiducial cross sections in the 4 ℓ decay channel at √s = 13 TeV
- 2020
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 80:10
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Journal article (peer-reviewed)abstract
- Inclusive and differential fiducial cross sections of the Higgs boson are measured in the H→ ZZ∗→ 4 ℓ (ℓ= e, μ) decay channel. The results are based on proton−proton collision data produced at the Large Hadron Collider at a centre-of-mass energy of 13 TeV and recorded by the ATLAS detector from 2015 to 2018, equivalent to an integrated luminosity of 139 fb - 1. The inclusive fiducial cross section for the H→ ZZ∗→ 4 ℓ process is measured to be σfid= 3.28 ± 0.32 fb, in agreement with the Standard Model prediction of σfid , SM= 3.41 ± 0.18 fb. Differential fiducial cross sections are measured for a variety of observables which are sensitive to the production and decay of the Higgs boson. All measurements are in agreement with the Standard Model predictions. The results are used to constrain anomalous Higgs boson interactions with Standard Model particles. © 2020, The Author(s).
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- Fabian, ID, et al.
(author)
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Travel burden and clinical presentation of retinoblastoma: analysis of 1024 patients from 43 African countries and 518 patients from 40 European countries
- 2021
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In: The British journal of ophthalmology. - : BMJ. - 1468-2079 .- 0007-1161. ; 105:10, s. 1435-1443
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Journal article (peer-reviewed)abstract
- The travel distance from home to a treatment centre, which may impact the stage at diagnosis, has not been investigated for retinoblastoma, the most common childhood eye cancer. We aimed to investigate the travel burden and its impact on clinical presentation in a large sample of patients with retinoblastoma from Africa and Europe.MethodsA cross-sectional analysis including 518 treatment-naïve patients with retinoblastoma residing in 40 European countries and 1024 treatment-naïve patients with retinoblastoma residing in 43 African countries.ResultsCapture rate was 42.2% of expected patients from Africa and 108.8% from Europe. African patients were older (95% CI −12.4 to −5.4, p<0.001), had fewer cases of familial retinoblastoma (95% CI 2.0 to 5.3, p<0.001) and presented with more advanced disease (95% CI 6.0 to 9.8, p<0.001); 43.4% and 15.4% of Africans had extraocular retinoblastoma and distant metastasis at the time of diagnosis, respectively, compared to 2.9% and 1.0% of the Europeans. To reach a retinoblastoma centre, European patients travelled 421.8 km compared to Africans who travelled 185.7 km (p<0.001). On regression analysis, lower-national income level, African residence and older age (p<0.001), but not travel distance (p=0.19), were risk factors for advanced disease.ConclusionsFewer than half the expected number of patients with retinoblastoma presented to African referral centres in 2017, suggesting poor awareness or other barriers to access. Despite the relatively shorter distance travelled by African patients, they presented with later-stage disease. Health education about retinoblastoma is needed for carers and health workers in Africa in order to increase capture rate and promote early referral.
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- Aad, G, et al.
(author)
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Performance of electron and photon triggers in ATLAS during LHC Run 2
- 2020
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In: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 80:1
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Journal article (peer-reviewed)abstract
- Results are presented from the measurement by ATLAS of long-range (| Δ η| > 2) dihadron angular correlations in s=8 and 13 TeV pp collisions containing a Z boson. The analysis is performed using 19.4 fb - 1 of s=8 TeV data recorded during Run 1 of the LHC and 36.1 fb - 1 of s=13 TeV data recorded during Run 2. Two-particle correlation functions are measured as a function of relative azimuthal angle over the relative pseudorapidity range 2 < | Δ η| < 5 for different intervals of charged-particle multiplicity and transverse momentum. The measurements are corrected for the presence of background charged particles generated by collisions that occur during one passage of two colliding proton bunches in the LHC. Contributions to the two-particle correlation functions from hard processes are removed using a template-fitting procedure. Sinusoidal modulation in the correlation functions is observed and quantified by the second Fourier coefficient of the correlation function, v2 , 2, which in turn is used to obtain the single-particle anisotropy coefficient v2. The v2 values in the Z-tagged events, integrated over 0.5 < pT< 5 GeV, are found to be independent of multiplicity and s, and consistent within uncertainties with previous measurements in inclusive pp collisions. As a function of charged-particle pT, the Z-tagged and inclusive v2 values are consistent within uncertainties for pT< 3 GeV. © 2020, CERN for the benefit of the ATLAS collaboration.
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- Mullier, G.A., et al.
(author)
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A search for the dimuon decay of the Standard Model Higgs boson with the ATLAS detector
- 2021
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In: Physics Letters, Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 812
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Journal article (peer-reviewed)abstract
- A search for the dimuon decay of the Standard Model (SM) Higgs boson is performed using data corresponding to an integrated luminosity of 139 fb−1 collected with the ATLAS detector in Run 2 pp collisions at s=13 TeV at the Large Hadron Collider. The observed (expected) significance over the background-only hypothesis for a Higgs boson with a mass of 125.09 GeV is 2.0σ (1.7σ). The observed upper limit on the cross section times branching ratio for pp→H→μμ is 2.2 times the SM prediction at 95% confidence level, while the expected limit on a H→μμ signal assuming the absence (presence) of a SM signal is 1.1 (2.0). The best-fit value of the signal strength parameter, defined as the ratio of the observed signal yield to the one expected in the SM, is μ=1.2±0.6. © 2020 The Author(s)
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- Mullier, G.A., et al.
(author)
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Measurement of the associated production of a Higgs boson decaying into b-quarks with a vector boson at high transverse momentum in pp collisions at s=13 TeV with the ATLAS detector
- 2021
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In: Physics Letters, Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 816
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Journal article (peer-reviewed)abstract
- The associated production of a Higgs boson with a W or Z boson decaying into leptons and where the Higgs boson decays to a bb¯ pair is measured in the high vector-boson transverse momentum regime, above 250 GeV, with the ATLAS detector. The analysed data, corresponding to an integrated luminosity of 139 fb−1, were collected in proton–proton collisions at the Large Hadron Collider between 2015 and 2018 at a centre-of-mass energy of s=13 TeV. The measured signal strength, defined as the ratio of the measured signal yield to that predicted by the Standard Model, is 0.72−0.36 +0.39 corresponding to an observed (expected) significance of 2.1 (2.7) standard deviations. Cross-sections of associated production of a Higgs boson decaying into b quark pairs with a W or Z gauge boson, decaying into leptons, are measured in two exclusive vector boson transverse momentum regions, 250–400 GeV and above 400 GeV, and interpreted as constraints on anomalous couplings in the framework of a Standard Model effective field theory. © 2021 The Author
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