Annette C. Douglas, Franz J. Wippold, Daniel F. Broderick, Ashley H. Aiken, Sepideh Amin‐Hanjani, Douglas Brown, Amanda S. Corey, Isabelle M. Germano, James A. Hadley, Bharathi Jagadeesan, Jennifer Jurgens, Tabassum A. Kennedy, Laszlo Mechtler, Nandini D. Patel, Gregory J. Zipfel,
Most patients presenting with uncomplicated, nontraumatic, primary headache do not require imaging. When history, physical, or neurologic examination elicits "red flags" or critical features of the headache, then further investigation with imaging may be warranted to exclude a secondary cause. Imaging procedures may be diagnostically useful for patients with headaches that are: associated with trauma; new, worse, or abrupt onset; thunderclap; radiating to the neck; due to trigeminal autonomic cephalgia; ...
Tópico(s): Neurosurgical Procedures and Complications
2014 - Elsevier BV | Journal of the American College of Radiology
Justin Gagnon, Emmanuelle Lévesque, Francine Borduas, Jocelyne Chiquette, Caroline Diorio, Nathalie Duchesne, M. Dumais, Laurence Eloy, William D. Foulkes, Nicole Gervais, Lucie Lalonde, Bernard Lespérance, Sarkis Meterissian, Louise Provencher, Jean‐Baptiste Richard, Corey Savard, Isabelle Trop, Nan Soon Wong, B Knoppers, Jacques Simard,
In recent years, risk stratification has sparked interest as an innovative approach to disease screening and prevention. The approach effectively personalizes individual risk, opening the way to screening and prevention interventions that are adapted to subpopulations. The international perspective project, which is developing risk stratification for breast cancer, aims to support the integration of its screening approach into clinical practice through comprehensive tool-building. Policies and guidelines ...
Tópico(s): Colorectal Cancer Screening and Detection
2016 - Multidisciplinary Digital Publishing Institute | Current Oncology
Michael S. Hildebrand, Matías Morín, Nicole C. Meyer, Fernando Mayo, Silvia Modamio‐Høybjør, Ángeles Mencía, Leticia Olavarrieta, Carmelo Morales‐Angulo, Carla Nishimura, Heather Workman, Adam P. DeLuca, Ignacio del Castillo, Kyle R. Taylor, Bruce W. Tompkins, Corey W. Goodman, Isabelle Schrauwen, Maarten Van Wesemael, Katherine Lachlan, A. Eliot Shearer, Terry A. Braun, P.L.M. Huygen, Hannie Kremer, Guy Van Camp, Felipe Moreno, Thomas L. Casavant, Richard J. Smith, Miguel A. Moreno‐Pelayo,
The prevalence of DFNA8/DFNA12 (DFNA8/12), a type of autosomal dominant nonsyndromic hearing loss (ADNSHL), is unknown as comprehensive population-based genetic screening has not been conducted. We therefore completed unbiased screening for TECTA mutations in a Spanish cohort of 372 probands from ADNSHL families. Three additional families (Spanish, Belgian, and English) known to be linked to DFNA8/12 were also included in the screening. In an additional cohort of 835 American ADNSHL families, we preselected ...
Tópico(s): Congenital heart defects research
2011 - Wiley | Human Mutation
Corey S. Davis, Isabelle Delisle, Ian Stirling, Donald B. Siniff, Curtis Strobeck,
Despite extensive interest in the systematics of Pinnipedia, questions remain concerning phylogenetic relationships within the Phocidae or "true" seals. Relationships within the phocids and their placement relative to the remaining pinnipeds and major lineages of arctoid carnivores were examined using a large molecular data set consisting of 12 mitochondrial protein coding genes. Phylogenetic analysis including 15 extant species of the Phocidae, and representatives of the Otariidae, Odobenidae, Ursidae, ...
Tópico(s): Identification and Quantification in Food
2004 - Elsevier BV | Molecular Phylogenetics and Evolution
Jean‐Marc Gion, Corey J. Hudson, Isabelle Lesur, René E. Vaillancourt, BM Potts, Jules S. Freeman,
Meiotic recombination is a fundamental evolutionary process. It not only generates diversity, but influences the efficacy of natural selection and genome evolution. There can be significant heterogeneity in recombination rates within and between species, however this variation is not well understood outside of a few model taxa, particularly in forest trees. Eucalypts are forest trees of global economic importance, and dominate many Australian ecosystems. We studied recombination rate in Eucalyptus ...
Tópico(s): Plant Pathogens and Fungal Diseases
2016 - BioMed Central | BMC Genomics
Produção Nacional
Revisado por pares
Jacqueline M. Achkar, Laetitia Cortes, Pascal Croteau, Corey Yanofsky, Marija Mentinova, Isabelle Rajotte, Michael Schirm, Yiyong Zhou, Ana Paula Junqueira‐Kipnis, Victoria Kasprowicz, Michelle H. Larsen, René Allard, Joanna M. Hunter, Eustache Paramithiotis,
Biomarkers for active tuberculosis (TB) are urgently needed to improve rapid TB diagnosis. The objective of this study was to identify serum protein expression changes associated with TB but not latent Mycobacterium tuberculosis infection (LTBI), uninfected states, or respiratory diseases other than TB (ORD). Serum samples from 209 HIV uninfected (HIV(-)) and co-infected (HIV(+)) individuals were studied. In the discovery phase samples were analyzed via liquid chromatography and mass spectrometry, and ...
Tópico(s): Diagnosis and treatment of tuberculosis
2015 - Elsevier BV | EBioMedicine
Maria Isabel Rivara Z., Mariano Cebrian G., Germán Corey, Mauricio Hernandez A., Isabelle Romieu,
Tópico(s): Arsenic contamination and mitigation
1997 - SAGE Publishing | Toxicology and Industrial Health
Amanda L. Patrick, Corey N. Stedwell, Baptiste Schindler, Isabelle Compagnon, Giel Berden, Jos Oomens, Nicolas C. Polfer,
The fragmentation chemistry of protonated sulfoserine was probed using a combination of collision-induced dissociation (CID) mass spectrometry, infrared multiple photon dissociation (IRMPD) spectroscopy, and density functional theory (DFT) calculations. The IRMPD spectra of the dominant fragment ions at m/z 106 and 88 (i.e., loss of SO3 and H2SO4) were obtained and used to determine the corresponding structures. By comparison to a synthetic standard and calculations, it was determined that the m/z 106 ...
Tópico(s): Analytical Chemistry and Chromatography
2014 - Elsevier BV | International Journal of Mass Spectrometry
Thomas Kalb, Jayashree Raikhelkar, Shelley Meyer, Francis Ntimba, Jason Thuli, Mary Gorman, Isabelle Kopec, Corey Scurlock,
The purpose of the study is to determine if teleintensive care unit (ICU)-directed daily ventilator rounds improved adherence to lung protective ventilation (LPV), reduced ventilator duration ratio (VDR), and ICU mortality ratios. A retrospective observational longitudinal quarterly analysis of adherence to low tidal volume LPV (< 7.5 mL/kg predicted body weight; Pao2/fraction of inspired oxygen < 300), ventilator duration, and ICU mortality ratios (Acute Physiology and Chronic Health Evaluation IV–adjusted). ...
Tópico(s): Intensive Care Unit Cognitive Disorders
2014 - Elsevier BV | Journal of Critical Care
C.M. Hamilton, Patrick J. Kelly, Kenneth Boey, Tatiana M. Corey, Hieuhanh Huynh, Deidra Metzler, Isabelle Villena, Chunlei Su, Elisabeth A. Innes, Frank Katzer,
Toxoplasma gondii is a worldwide protozoan parasite of felids which can infect almost all warm-blooded animals, including humans. Free-roaming chickens are good indicators of environmental contamination with T. gondii oocysts because they feed from the ground. Previous research has demonstrated a high seroprevalence of T. gondii in domestic animals on St. Kitts but little is known about the genotypes circulating in the environment. Hearts and brains from 81 free-roaming chickens in St. Kitts were ...
Tópico(s): Parasitic Infections and Diagnostics
2017 - BioMed Central | Parasites & Vectors
Corey H. Allen, Benzi M. Kluger, Isabelle Buard,
Background Data and best practice recommendations for transcranial magnetic stimulation (TMS) use in adults are largely available. Although there are fewer data in pediatric populations and no published guidelines, its practice in children continues to grow. Methods We performed a literature search through PubMed to review all TMS studies from 1985 to 2016 involving children and documented any adverse events. Crude risks were calculated per session. Results Following data screening we identified ...
Tópico(s): Muscle activation and electromyography studies
2017 - Elsevier BV | Pediatric Neurology
Corey Allan, Adam B. Jaffe, Isabelle Sin,
This paper surveys the existing literature on diffusion of environmentally beneficial technology. Overall, it confirms many of the lessons of the larger literature on technology diffusion: diffusion often appears slow when viewed from the outside; the flow of information is an important factor in the diffusion process; networks and organisations can matter; behavioural factors such as values and cognitive biases also play a role. With respect to policy instruments, there is some evidence that the ...
Tópico(s): Energy, Environment, Economic Growth
2014 - RELX Group (Netherlands) | SSRN Electronic Journal
Andrew H. Barnard, B. Rhoades, Carlos E. Wetzel, Albert J. Derr, J. Ronald V. Zaneveld, C. Moore, Corey Koch, Isabelle Walsh,
Dissolved nutrient dynamics broadly affect issues related to public health, ecosystem status and resource sustainability. Modeling ecosystem dynamics and predicting changes in normal variability due to potentially adverse impacts requires sustained and accurate information on nutrient availability. On site sampling is often resource limited which results in sparse data sets with low temporal and spatial density. For nutrient dynamics, sparse data sets will bias analyses because critical time scales ...
Tópico(s): Water Quality Monitoring and Analysis
2009 - Multidisciplinary Digital Publishing Institute | Oceans
Thomas S. Gelatt, Corey S. Davis, Ian Stirling, Donald B. Siniff, Curtis Strobeck, Isabelle Delisle,
Weddell seals (Leptonychotes weddellii Lesson) at White Island, Antarctica form a small, completely enclosed, natural population hypothesized to be of recent origin, likely founded by individuals from nearby Erebus Bay. This population constitutes an ideal model to document a founder event and ensuing genetic drift, with implications for conservation. Here we combined historical accounts, census and tagging data since the late 1960s, and genetic data (41 microsatellite loci and mitochondrial DNA sequences) ...
Tópico(s): Avian ecology and behavior
2009 - Springer Science+Business Media | Conservation Genetics
Jessica R. Gorman, Stephanie L. Corey, Isabelle Ginavan, Jonathan García,
Tópico(s): Family Support in Illness
2024 - Springer Science+Business Media | Journal of Cancer Survivorship
Julia D. Romano, Sabrina Nolan, Corey M. Porter, Karen Ehrenman, Eric J. Hartman, Ru‐ching Hsia, Isabelle Coppens,
Many intracellular pathogens subvert host membrane trafficking pathways to promote their replication. Toxoplasma multiplies in a membrane-bound parasitophorous vacuole (PV) that interacts with mammalian host organelles and intercepts Golgi Rab vesicles to acquire sphingolipids. The mechanisms of host vesicle internalization and processing within the PV remain undefined. We demonstrate that Toxoplasma sequesters a broad range of Rab vesicles into the PV. Correlative light and electron microscopy analysis ...
Tópico(s): Mosquito-borne diseases and control
2017 - Rockefeller University Press | The Journal of Cell Biology
Pritesh Parikh, Corey Senowitz, Don Lyons, Isabelle Martin, Ty J. Prosa, Michael DiBattista, Arun Devaraj, Ying Shirley Meng,
Abstract The semiconductor industry has seen tremendous progress over the last few decades with continuous reduction in transistor size to improve device performance. Miniaturization of devices has led to changes in the dopants and dielectric layers incorporated. As the gradual shift from two-dimensional metal-oxide semiconductor field-effect transistor to three-dimensional (3D) field-effect transistors (finFETs) occurred, it has become imperative to understand compositional variability with nanoscale ...
Tópico(s): Electronic and Structural Properties of Oxides
2017 - Oxford University Press | Microscopy and Microanalysis
Isabelle V. S. Dupin, Brett M. McKinnon, Corey Ryan, Muryel Boulay, ANDREW J. MARKIDES, Graham P. Jones, Patrick J. Williams, Elizabeth J. Waters,
A fraction containing the mannoproteins released during fermentation from the winemaking strain of Saccharomyces cerevisiae, Maurivin PDM, was able to reduce the visible protein haze in white wine. This fraction of haze protective mannoprotein material (HPM) could be recovered by either ultrafiltration or ethanol precipitation. The kinetics of the release of both mannose- and glucose-containing polymers during the growth cycle of PDM were determined as a guide to the release of HPM. Active HPM was ...
Tópico(s): Meat and Animal Product Quality
2000 - American Chemical Society | Journal of Agricultural and Food Chemistry
Jayashree Raikhelkar, Corey Scurlock, Isabelle Kopec,
Tópico(s): Cardiac, Anesthesia and Surgical Outcomes
2012 - Massachusetts Medical Society | New England Journal of Medicine
Jayashree Raikhelkar, Corey Scurlock, Isabelle Kopec,
Tópico(s): Respiratory Support and Mechanisms
2012 - Massachusetts Medical Society | New England Journal of Medicine
Erik Verschueren, Bushra Husain, Kobe Yuen, Yi Sun, Sairupa Paduchuri, Yasin Şenbabaoğlu, Isabelle Lehoux, Tia A. Arena, Blair Wilson, Steve Lianoglou, Corey E. Bakalarski, Yvonne Franke, Pamela Chan, Athena W. Wong, Lino C. Gonzalez, Sanjeev Mariathasan, Shannon J. Turley, Jennie R. Lill, Nadia Martinez-Martin,
Cell surface receptors and their interactions play a central role in physiological and pathological signaling. Despite its clinical relevance, the immunoglobulin superfamily (IgSF) remains uncharacterized and underrepresented in databases. Here, we present a systematic extracellular protein map, the IgSF interactome. Using a high-throughput technology to interrogate most single transmembrane receptors for binding to 445 IgSF proteins, we identify over 500 interactions, 82% previously undocumented, ...
Tópico(s): Chronic Lymphocytic Leukemia Research
2020 - Cell Press | Cell
Guillaume Désanges, Thomas Golsenne,
... son usage analytique par des artistes contemporains comme Corey McCorkle ou Isabelle Cornaro. Un sujet qu'il a abordé de ...
Tópico(s): Diverse Cultural and Historical Studies
2012 - Centre d´Histoire et Théorie des Arts | Images re-vues
Noel Premkumar, Stephen Lowes, James de Jersey, Fabio Garofolo, Isabelle Dumont, Robert Massé, Betty Stamatiou, Maria Cruz Caturla, Ray Steffen, Michele Malone, Elliot Offman, Timothy Samuels, Phillip Oldfield, Lorella Di Donato, Douglas M. Fast, Daniel Tang, Marc Moussallie, John Doughty, Mario L. Rocci, Mike Buonarati, Dominique Gouty, Darioush Dadgar, John Stamatopoulos, Alan P. Breau, Bernard Ntsikoussalabongui, Mohammed Bouhajib, Bob Nicholson, Richard Tacey, Peter Ketelaar, Chad Briscoe, Shane Karnik, Jaap Wieling, Jon Kirk Smith, Michael Reid, Richard LeLacheur, John Chapdelaine, Saadya Fatmi, Farhad Sayyarpour, Xinping Fang, Jeremy W. Cook, David R. Browne,
... Jenny Lin, Allan Xu, Mohammed Bouhajib, Mary Stipancic, Corey Nehls, Mark Warren, Shane Karnik, Craig Stovold, Scott Reuschel, Laura Cojocaru, John Marcelletti, Xinping Fang, Ian Smith & Andrea Watson21 November 2014 | Bioanalysis, Vol. 6, No. 20Recommendations on incurred sample stability (ISS) by GCCSteve Lowes, Richard LeLacheur, Ronald Shoup, Fabio Garofolo, Isabelle Dumont, Suzanne Martinez, Jennifer Zimmer, Maria Cruz Caturla, ... from Audits and InspectionsFabio Garofolo, Mario L Rocci, Isabelle Dumont, Suzanne Martinez, Steve Lowes, Eric Woolf, Peter van Amsterdam, Surendra Bansal, Ariadna Cristina Gomes Barra, Ronald Bauer, Brian P Booth, Montserrat Carrasco-Triguero, Binodh DeSilva, John Dunn, Keith Gallicano, Dominique Gouty, Stacy Ho, Richard Hucker, Mohammed Jemal, Noriko Katori, Olivier Le Blaye, Jean Lee, Wenkui Li, Steve Michael, Corey Nehls, Robert Nicholson, Eric Ormsby, Daniel Tang, CT ...
Tópico(s): Statistical Methods in Clinical Trials
2010 - Future Science Ltd | Bioanalysis
Michael Benatar, Joanne Wuu, Caroline McHutchison, Ronald B. Postuma, Bradley F. Boeve, Ronald C. Petersen, Christopher A. Ross, Howard J. Rosen, Jalayne J. Arias, Stephanie Fradette, Michael McDermott, Jeremy M. Shefner, Christine Stanislaw, Sharon Abrahams, Stephanie Cosentino, Peter M. Andersen, Richard S. Finkel, Volkan Granit, Anne‐Laure Grignon, Jonathan D. Rohrer, Corey T. McMillan, Murray Grossman, Ammar Al‐Chalabi, Martin R. Turner, Ammar Al‐Chalabi, Peter M. Andersen, Jalayne J. Arias, Michael Benatar, Bradley F. Boeve, Stephanie Cosentino, Kuldip D. Dave, Toby A. Ferguson, Mary-Kay Floeter, Jonathan D. Rohrer, Stephanie Fradette, Tania F. Gendron, Volkan Granit, Anne‐Laure Grignon, Murray Grossman, Amelie K. Gubitz, Petra Kaufman, Isabelle Le Ber, Suzee Lee, Andrea Malaspina, Michael McDermott, Caroline McHutchison, Corey T. McMillan, Katie Nicholson, Ronald C. Petersen, Ronald B. Postuma, Richard Robinson, Howard J. Rosen, Christopher A. Ross, Jeremy M. Shefner, Christine Stanislaw, Nadine Tatton, Neil Thakur, Martin R. Turner, Jochen H. Weishaupt, Joanne Wuu,
Significant progress has been made in understanding the pre-symptomatic phase of amyotrophic lateral sclerosis. While much is still unknown, advances in other neurodegenerative diseases offer valuable insights. Indeed, it is increasingly clear that the well-recognized clinical syndromes of Alzheimer's disease, Parkinson's disease, Huntington's disease, spinal muscular atrophy and frontotemporal dementia are also each preceded by a pre-symptomatic or prodromal period of varying duration, during which ...
Tópico(s): Neurogenetic and Muscular Disorders Research
2021 - Oxford University Press | Brain
Matthew John Valentine, Brenda Ciraola, Matthew T. Aliota, Michel L. Vandenplas, Silvia Marchi, Bernard Tenebray, Isabelle Leparc-Goffart, Christa A. Gallagher, Amy Beierschmitt, Tatiana M. Corey, Kerry M. Dore, Xavier de Lamballerie, Chengming Wang, Courtney Cuin Murdock, Patrick Kelly,
Abstract Background Dengue, chikungunya and Zika viruses (DENV, CHIKV and ZIKV) are transmitted in sylvatic transmission cycles between non-human primates and forest (sylvan) mosquitoes in Africa and Asia. It remains unclear if sylvatic cycles exist or could establish themselves elsewhere and contribute to the epidemiology of these diseases. The Caribbean island of St. Kitts has a large African green monkey (AGM) ( Chlorocebus aethiops sabaeus ) population and is therefore ideally suited to investigate ...
Tópico(s): Malaria Research and Control
2020 - BioMed Central | Parasites & Vectors
Mark B. Geyer, Shwetha Manjunath, Andrew G. Evans, Jae H. Park, Marco L. Davila, Corey Cutler, Xiuyan Wang, Yongzeng Wang, Brigitte Sénéchal, Isabelle Rivière, Michel Sadelain, Jane L. Liesveld, Renier J. Brentjens,
Chimeric antigen receptors (CARs) are recombinant receptors composed of an antibody-derived extracellular single-chain variable fragment linked to a costimulatory signaling domain combined with the...
Tópico(s): CAR-T cell therapy research
2017 - Taylor & Francis | Leukemia & lymphoma/Leukemia and lymphoma
Emma L. van der Ende, Estrella Morenas‐Rodríguez, Corey T. McMillan, Murray Grossman, David J. Irwin, Raquel Sánchez‐Valle, Caroline Graff, Rik Vandenberghe, Yolande A.L. Pijnenburg, Robert Laforce, Isabelle Le Ber, Alberto Lleó, Christian Haass, Marc Suárez‐Calvet, John C. van Swieten, Harro Seelaar,
Excessive microglial activation might be a central pathological process in GRN-related frontotemporal dementia (FTD-GRN). We measured soluble triggering receptor expressed on myeloid cells 2 (sTREM2), which is shed from disease-associated microglia following cleavage of TREM2, in cerebrospinal fluid of 34 presymptomatic and 35 symptomatic GRN mutation carriers, 6 presymptomatic and 32 symptomatic C9orf72 mutation carriers and 67 healthy noncarriers by ELISA. Although no group differences in sTREM2 ...
Tópico(s): Neurological Disease Mechanisms and Treatments
2021 - Elsevier BV | Neurobiology of Aging
Ana Rita Agra de Almeida Quadros, Zhaozhi Li, Xue Wang, I. Sandra Ndayambaje, Sandeep Aryal, Nandini Ramesh, Matthew Nolan, Rojashree Jayakumar, Yi Han, Hannah Stillman, Corey Aguilar, Hayden J. Wheeler, Theresa R. Connors, Jone López‐Erauskin, Michael W. Baughn, Ze’ev Melamed, Melinda S. Beccari, Laura Martinez‐Gili, Michael Canori, Chao-Zong Lee, Laura Moran, Isabelle Draper, Alan S. Kopin, Derek H. Oakley, Dennis W. Dickson, Don W. Cleveland, Bradley T. Hyman, Sudeshna Das, Nilüfer Ertekin‐Taner, Clotilde Lagier‐Tourenne,
Abstract Nuclear clearance and cytoplasmic accumulations of the RNA-binding protein TDP-43 are pathological hallmarks in almost all patients with amyotrophic lateral sclerosis (ALS) and up to 50% of patients with frontotemporal dementia (FTD) and Alzheimer’s disease. In Alzheimer’s disease, TDP-43 pathology is predominantly observed in the limbic system and correlates with cognitive decline and reduced hippocampal volume. Disruption of nuclear TDP-43 function leads to abnormal RNA splicing and incorporation ...
Tópico(s): Neurogenetic and Muscular Disorders Research
2024 - Springer Science+Business Media | Acta Neuropathologica
Chloé Mayère, Violaine Regard, Aitana Perea-Gómez, Corey Bunce, Yasmine Neirijnck, Cyril Djari, Natividad Bellido-Carreras, Pauline Sararols, R. G. Reeves, Simon Greenaway, Michelle Simon, Pam Siggers, Diana Condrea, Françoise Kühne, Ivana Gantar, Furong Tang, Isabelle Stévant, Laura Batti, Norbert B. Ghyselinck, Dagmar Wilhelm, Andy Greenfield, Blanche Capel, Marie‐Christine Chaboissier, Serge Nef,
Gonadal sex determination represents a unique model for studying cell fate decisions. However, a complete understanding of the different cell lineages forming the developing testis and ovary remains elusive. Here, we investigated the origin, specification, and subsequent sex-specific differentiation of a previously uncharacterized population of supporting-like cells (SLCs) in the developing mouse gonads. The SLC lineage is closely related to the coelomic epithelium and specified as early as E10.5, ...
Tópico(s): Reproductive Biology and Fertility
2022 - American Association for the Advancement of Science | Science Advances
Jérémie Rosain, Tom Le Voyer, Xian Liu, Adrian Gervais, Laura Polivka, Axel Cederholm, Laureline Berteloot, Audrey V. Parent, Alessandra Pescatore, Ezia Spinosa, Snežana Minić, Ana Elisa Kiszewski, Miyuki Tsumura, Chloé Thibault, María Esnaola Azcoiti, Jéléna Martinovic, Quentin Philippot, Taushif Khan, Astrid Marchal, Bénédicte Charmeteau-De Muylder, Lucy Bizien, Caroline Deswarte, Lillia Hadjem, Marie‐Odile Fauvarque, Karim Dorgham, Daniel Eriksson, Emilia Liana Falcone, Mathilde Puel, Sinem Ünal, Amyrath Geraldo, Corentin Le Floc’h, Hailun Li, Sylvie Rheault, Christine Muti, Claire Bobrie-Moyrand, A. Welfringer‐Morin, Ramsay Fuleihan, Romain Lévy, Marie Roelens, Liwei Gao, Marie Materna, Silvia Pellegrini, Lorenzo Piemonti, É. Catherinot, Jean‐Christophe Goffard, Arnaud Fekkar, Aissata Sacko-Sow, Camille Soudée, Soraya Boucherit, Anna‐Lena Neehus, Cristina Has, Stefanie Hübner, Géraldine Blanchard-Rohner, Blanca Amador-Borrero, Takanori Utsumi, Maki Taniguchi, Hiroo Tani, Kazushi Izawa, Takahiro Yasumi, Sotaro Kanai, Mélanie Migaud, Mélodie Aubart, Nathalie Lambert, Guy Gorochov, Capucine Pïcard, Claire Soudais, Anne-Sophie L’Honneur, Flore Rozenberg, Joshua D. Milner, Shen‐Ying Zhang, P. Vabres, Dušan Trpinac, Nico Marr, Nathalie Boddaert, Isabelle Desguerre, Manolis Pasparakis, Corey N. Miller, Cláudia Schermann Poziomczyk, Laurent Abel, Satoshi Okada, Emmanuelle Jouanguy, Rémi Cheynier, Qian Zhang, Aurélie Cobat, Vivien Béziat, Bertrand Boisson, Julie Steffann, Francesca Fusco, Matilde Valeria Ursini, S. Hadj‐Rabia, Christine Bodemer, Jacinta Bustamante, Hervé Luche, Anne Puel, Gilles Courtois, Paul Bastard, Nils Landegren, Mark S. Anderson, Jean‐Laurent Casanova,
Human inborn errors of thymic T cell tolerance underlie the production of autoantibodies (auto-Abs) neutralizing type I IFNs, which predispose to severe viral diseases. We analyze 131 female patients with X-linked dominant incontinentia pigmenti (IP), heterozygous for loss-of-function (LOF) NEMO variants, from 99 kindreds in 10 countries. Forty-seven of these patients (36%) have auto-Abs neutralizing IFN-α and/or IFN-ω, a proportion 23 times higher than that for age-matched female controls. This proportion ...
Tópico(s): Immunodeficiency and Autoimmune Disorders
2024 - Rockefeller University Press | The Journal of Experimental Medicine