EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.

We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3 (EXTL3), a glycosyltransferase involved in heparan sulfate (HS) biosynthesis. Patient-derived fibroblasts showed abnormal HS composition and altered fibroblast growth factor 2 signaling, which was rescued by overexpression of wild-type EXTL3 cDNA. Interleukin-2-mediated STAT5 phosphorylation in patients' lymphocytes was markedly reduced. Interbreeding of the extl3-mutant zebrafish (box) with Tg(rag2:green fluorescent protein) transgenic zebrafish revealed defective thymopoiesis, which was rescued by injection of wild-type human EXTL3 RNA. Targeted differentiation of patient-derived induced pluripotent stem cells showed a reduced expansion of lymphohematopoietic progenitor cells and defects of thymic epithelial progenitor cell differentiation. These data identify EXTL3 mutations as a novel cause of severe immune deficiency with skeletal dysplasia and developmental delay and underline a crucial role of HS in thymopoiesis and skeletal and brain development

Search for chargino-neutralino production with mass splittings near the electroweak scale in three-lepton final states in √s=13 TeV pp collisions with the ATLAS detector

A search for supersymmetry through the pair production of electroweakinos with mass splittings near the electroweak scale and decaying via on-shell W and Z bosons is presented for a three-lepton final state. The analyzed proton-proton collision data taken at a center-of-mass energy of √s=13  TeV were collected between 2015 and 2018 by the ATLAS experiment at the Large Hadron Collider, corresponding to an integrated luminosity of 139  fb−1. A search, emulating the recursive jigsaw reconstruction technique with easily reproducible laboratory-frame variables, is performed. The two excesses observed in the 2015–2016 data recursive jigsaw analysis in the low-mass three-lepton phase space are reproduced. Results with the full data set are in agreement with the Standard Model expectations. They are interpreted to set exclusion limits at the 95% confidence level on simplified models of chargino-neutralino pair production for masses up to 345 GeV

Measurement of differential cross sections for single diffractive dissociation in √s = 8 TeV pp collisions using the ATLAS ALFA spectrometer

A dedicated sample of Large Hadron Collider proton-proton collision data at centre-of-mass energy √ s = 8 TeV is used to study inclusive single diffractive dissociation, pp → Xp. The intact final-state proton is reconstructed in the ATLAS ALFA forward spectrometer, while charged particles from the dissociated system X are measured in the central detector components. The fiducial range of the measurement is −4.0 < log10 ξ < −1.6 and 0.016 < |t| < 0.43 GeV2 , where ξ is the proton fractional energy loss and t is the squared four-momentum transfer. The total cross section integrated across the fiducial range is 1.59 ± 0.13 mb. Cross sections are also measured differentially as functions of ξ, t, and ∆η, a variable that characterises the rapidity gap separating the proton and the system X. The data are consistent with an exponential t dependence, dσ/dt ∝ e Bt with slope parameter B = 7.65 ± 0.34 GeV−2 . Interpreted in the framework of triple Regge phenomenology, the ξ dependence leads to a pomeron intercept of α(0) = 1.07 ± 0.09

Measurement of angular and momentum distributions of charged particles within and around jets in Pb+Pb and pp collisions at √sNN = 5.02 TeV with the ATLAS detector

Studies of the fragmentation of jets into charged particles in heavy-ion collisions can provide information about the mechanism of jet quenching by the hot and dense QCD matter created in such collisions, the quark-gluon plasma. This paper presents a measurement of the angular distribution of charged particles around the jet axis in √ s N N = 5.02 TeV Pb + Pb and pp collisions, using the ATLAS detector at the LHC. The Pb + Pb and p p data sets have integrated luminosities of 0.49 nb − 1 and 25 pb − 1 , respectively. The measurement is performed for jets reconstructed with the anti- k t algorithm with radius parameter R = 0.4 and is extended to an angular distance of r = 0.8 from the jet axis. Results are presented as a function of Pb + Pb collision centrality and distance from the jet axis for charged particles with transverse momenta in the 1- to 63-GeV range, matched to jets with transverse momenta in the 126- to 316-GeV range and an absolute value of jet rapidity of less than 1.7. Modifications to the measured distributions are quantified by taking a ratio to the measurements in p p collisions. Yields of charged particles with transverse momenta below 4 GeV are observed to be increasingly enhanced as a function of angular distance from the jet axis, reaching a maximum at r = 0.6 . Charged particles with transverse momenta above 4 GeV have an enhanced yield in Pb + Pb collisions in the jet core for angular distances up to r = 0.05 from the jet axis, with a suppression at larger distances

Measurement of the inclusive cross-section for the production of jets in association with a Z boson in proton–proton collisions at 8 TeV using the ATLAS detector

Abstract: The inclusive cross-section for jet production in association with a Z boson decaying into an electron–positron pair is measured as a function of the transverse momentum and the absolute rapidity of jets using 19.9 fb-1 of s=8 TeV proton–proton collision data collected with the ATLAS detector at the Large Hadron Collider. The measured Z+ jets cross-section is unfolded to the particle level. The cross-section is compared with state-of-the-art Standard Model calculations, including the next-to-leading-order and next-to-next-to-leading-order perturbative QCD calculations, corrected for non-perturbative and QED radiation effects. The results of the measurements cover final-state jets with transverse momenta up to 1 TeV, and show good agreement with fixed-order calculations

Combination of searches for Higgs boson pairs in pp collisions at \sqrts = 13 TeV with the ATLAS detector

This letter presents a combination of searches for Higgs boson pair production using up to 36.1 fb(-1) of proton-proton collision data at a centre-of-mass energy root s = 13 TeV recorded with the ATLAS detector at the LHC. The combination is performed using six analyses searching for Higgs boson pairs decaying into the b (b) over barb (b) over bar, b (b) over barW(+)W(-), b (b) over bar tau(+)tau(-), W+W-W+W-, b (b) over bar gamma gamma and W+W-gamma gamma final states. Results are presented for non-resonant and resonant Higgs boson pair production modes. No statistically significant excess in data above the Standard Model predictions is found. The combined observed (expected) limit at 95% confidence level on the non-resonant Higgs boson pair production cross-section is 6.9 (10) times the predicted Standard Model cross-section. Limits are also set on the ratio (kappa(lambda)) of the Higgs boson self-coupling to its Standard Model value. This ratio is constrained at 95% confidence level in observation (expectation) to -5.0 &lt; kappa(lambda) &lt; 12.0 (-5.8 &lt; kappa(lambda) &lt; 12.0). In addition, limits are set on the production of narrow scalar resonances and spin-2 Kaluza-Klein Randall-Sundrum gravitons. Exclusion regions are also provided in the parameter space of the habemus Minimal Supersymmetric Standard Model and the Electroweak Singlet Model. For complete list of authors see http://dx.doi.org/10.1016/j.physletb.2019.135103</p

Searches for lepton-flavour-violating decays of the Higgs boson in s=13\sqrt{s}=13 TeV pp\mathit{pp} collisions with the ATLAS detector

This Letter presents direct searches for lepton flavour violation in Higgs boson decays, H → eτ and H → μτ , performed with the ATLAS detector at the LHC. The searches are based on a data sample of proton–proton collisions at a centre-of-mass energy √s = 13 TeV, corresponding to an integrated luminosity of 36.1 fb−1. No significant excess is observed above the expected background from Standard Model processes. The observed (median expected) 95% confidence-level upper limits on the leptonflavour-violating branching ratios are 0.47% (0.34+0.13−0.10%) and 0.28% (0.37+0.14−0.10%) for H → eτ and H → μτ , respectively.publishedVersio

Search for heavy neutral Higgs bosons produced in association with b-quarks and decaying into b-quarks at root s=13 TeV with the ATLAS detector

A search for heavy neutral Higgs bosons produced in association with one or two b -quarks and decaying to b -quark pairs is presented using 27.8  fb − 1 of √ s = 13  TeV proton-proton collision data recorded by the ATLAS detector at the Large Hadron Collider during 2015 and 2016. No evidence of a signal is found. Upper limits on the heavy neutral Higgs boson production cross section times its branching ratio to b ¯ b are set, ranging from 4.0 to 0.6 pb at 95% confidence level over a Higgs boson mass range of 450 to 1400 GeV. Results are interpreted within the two-Higgs-doublet model and the minimal supersymmetric Standard Model