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4,042 results on '"Shen, Ying"'

1. SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency.

Author

Chan, Yi-Hao, Lundberg, Vanja, Le Pen, Jérémie, Yuan, Jiayi, Lee, Danyel, Pinci, Francesca, Volpi, Stefano, Nakajima, Koji, Bondet, Vincent, Åkesson, Sanna, Khobrekar, Noopur, Bodansky, Aaron, Du, Likun, Melander, Tina, Mariaggi, Alice-Andrée, Seeleuthner, Yoann, Saleh, Tariq, Chakravarty, Debanjana, Marits, Per, Dobbs, Kerry, Vonlanthen, Sofie, Hennings, Viktoria, Thörn, Karolina, Rinchai, Darawan, Bizien, Lucy, Chaldebas, Matthieu, Sobh, Ali, Özçelik, Tayfun, Keles, Sevgi, AlKhater, Suzan, Prando, Carolina, Meyts, Isabelle, Wilson, Michael, Rosain, Jérémie, Jouanguy, Emmanuelle, Aubart, Mélodie, Abel, Laurent, Mogensen, Trine, Pan-Hammarström, Qiang, Gao, Daxing, Duffy, Darragh, Cobat, Aurélie, Berg, Stefan, Notarangelo, Luigi, Harschnitz, Oliver, Rice, Charles, Studer, Lorenz, Casanova, Jean-Laurent, Ekwall, Olov, and Zhang, Shen-Ying

Subjects
Humans, Male, SARS-CoV-2, COVID-19, Brain Stem, Adolescent, Neurons, Encephalitis, Viral, Fibroblasts, Rhombencephalon
Abstract

Inherited deficiency of the RNA lariat-debranching enzyme 1 (DBR1) is a rare etiology of brainstem viral encephalitis. The cellular basis of disease and the range of viral predisposition are unclear. We report inherited DBR1 deficiency in a 14-year-old boy who suffered from isolated SARS-CoV-2 brainstem encephalitis. The patient is homozygous for a previously reported hypomorphic and pathogenic DBR1 variant (I120T). Consistently, DBR1 I120T/I120T fibroblasts from affected individuals from this and another unrelated kindred have similarly low levels of DBR1 protein and high levels of RNA lariats. DBR1 I120T/I120T human pluripotent stem cell (hPSC)-derived hindbrain neurons are highly susceptible to SARS-CoV-2 infection. Exogenous WT DBR1 expression in DBR1 I120T/I120T fibroblasts and hindbrain neurons rescued the RNA lariat accumulation phenotype. Moreover, expression of exogenous RNA lariats, mimicking DBR1 deficiency, increased the susceptibility of WT hindbrain neurons to SARS-CoV-2 infection. Inborn errors of DBR1 impair hindbrain neuron-intrinsic antiviral immunity, predisposing to viral infections of the brainstem, including that by SARS-CoV-2.

Published
2024

5. TMEFF1 is a neuron-specific restriction factor for herpes simplex virus

Author

Dai, Yao, Idorn, Manja, Serrero, Manutea C., Pan, Xiaoyong, Thomsen, Emil A., Narita, Ryo, Maimaitili, Muyesier, Qian, Xiaoqing, Iversen, Marie B., Reinert, Line S., Flygaard, Rasmus K., Chen, Muwan, Ding, Xiangning, Zhang, Bao-cun, Carter-Timofte, Madalina E., Lu, Qing, Jiang, Zhuofan, Zhong, Yiye, Zhang, Shuhui, Da, Lintai, Zhu, Jinwei, Denham, Mark, Nissen, Poul, Mogensen, Trine H., Mikkelsen, Jacob Giehm, Zhang, Shen-Ying, Casanova, Jean-Laurent, Cai, Yujia, and Paludan, Søren R.

Published
2024
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6. Human TMEFF1 is a restriction factor for herpes simplex virus in the brain

Author

Chan, Yi-Hao, Liu, Zhiyong, Bastard, Paul, Khobrekar, Noopur, Hutchison, Kennen M., Yamazaki, Yasuhiro, Fan, Qing, Matuozzo, Daniela, Harschnitz, Oliver, Kerrouche, Nacim, Nakajima, Koji, Amin, Param, Yatim, Ahmad, Rinchai, Darawan, Chen, Jie, Zhang, Peng, Ciceri, Gabriele, Chen, Jia, Dobbs, Kerry, Belkaya, Serkan, Lee, Danyel, Gervais, Adrian, Aydın, Kürşad, Kartal, Ayse, Hasek, Mary L., Zhao, Shuxiang, Reino, Eduardo Garcia, Lee, Yoon Seung, Seeleuthner, Yoann, Chaldebas, Matthieu, Bailey, Rasheed, Vanhulle, Catherine, Lorenzo, Lazaro, Boucherit, Soraya, Rozenberg, Flore, Marr, Nico, Mogensen, Trine H., Aubart, Mélodie, Cobat, Aurélie, Dulac, Olivier, Emiroglu, Melike, Paludan, Søren R., Abel, Laurent, Notarangelo, Luigi, Longnecker, Richard, Smith, Greg, Studer, Lorenz, Casanova, Jean-Laurent, and Zhang, Shen-Ying

Published
2024
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9. The Association Among Social Support, Self-Efficacy, Use of Mobile Apps, and Physical Activity: Structural Equation Models With Mediating Effects

Author

Wang, Taotao, Ren, Mengyuan, Shen, Ying, Zhu, Xiaorou, Zhang, Xing, Gao, Min, Chen, Xueying, Zhao, Ai, Shi, Yuhui, Chai, Weizhong, Liu, Xinchuan, and Sun, Xinying

Subjects
Information technology, T58.5-58.64, Public aspects of medicine, RA1-1270
Abstract

BackgroundPhysical inactivity is a risk factor for chronic noncommunicable diseases. Insufficient physical activity has become an important public health problem worldwide. As mobile apps have rapidly developed, physical activity apps have the potential to improve the level of physical activity among populations. ObjectiveThis study aimed to evaluate the effect of physical activity apps on levels of physical activity among college students. MethodsA Web-based questionnaire was used to survey college students in Beijing from December 27, 2017, to January 5, 2018. According to a previous survey, 43% of college students using physical activity apps and 36% of those who never used such apps achieved the physical activity recommendations. In this study, the sample size was calculated to be 500. The questionnaire consisted of 5 parts: the use of physical activity apps, sports habits, social support, self-efficacy, and social demographic information. Structural equation modeling was used to test the relationships between the use of physical activity apps, self-efficacy, social support, and level of physical activity. ResultsOf the 1245 participants, 384 college students (30.8%) used physical activity apps (in the past month). Of these 384 students, 191 (49.7%) gained new friends via the app. College students who were using physical activity apps had a higher level of physical activity and higher scores for social support and self-efficacy (P

Published
2019
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10. Effectiveness of Low Glycemic Index Diet Consultations Through a Diet Glycemic Assessment App Tool on Maternal and Neonatal Insulin Resistance: A Randomized Controlled Trial

Author

Zhang, Yi, Wang, Liping, Yang, Wenhong, Niu, Dayan, Li, Chunying, Wang, Liling, Gu, Ping, Xia, Yingqian, Shen, Ying, Yan, Juhua, Zhao, Qian, Mu, Kai, and Yan, Weili

Subjects
Information technology, T58.5-58.64, Public aspects of medicine, RA1-1270
Abstract

BackgroundLow glycemic index (LGI) diet has shown to be effective in reducing maternal and neonatal complications in high-risk pregnancies. ObjectiveThis trial aimed to examine the effectiveness of individualized LGI diet consultations based on the accurate diet glycemic load (GL) assessment tool on maternal and neonatal insulin resistance levels and diet behavior changes in overweight and obese pregnant women. MethodsOverweight and obese pregnant women were recruited before 16 weeks of gestation and randomized to the LGI diet arm or the control arm. All participants received standard dietary education according to the Chinese Dietary Guide for Pregnant Women. In the intervention arm, additional individualized dietary GL assessments were performed using an app and instructions of lowering diet glycemic index (GI) to achieve LGI diet were provided by a clinical dietitian at early, middle, and late gestation. Primary outcomes were serum insulin at late gestation, incidence of gestational diabetes mellitus (GDM) for mothers, and cord blood C-peptide level of neonates. ResultsIn total, 400 subjects were randomized and received different interventions. There were no significant differences in maternal serum insulin levels (13.2 [9.3−13.2] uU/mL vs 12.4 [10.5−12.4] uU/mL), incidence of GDM (45 [22.5%] vs 43 [21.5%]), or cord blood C-peptide levels (mean 0.9ng/mL [SD 0.7] vs mean 0.8ng/mL [SD 0.6]) in the intervention group compared with the controls. The diet GI at late gestation was similar (mean 63.2 [SD 10.4] vs mean 64.3 [SD 10.4]), whereas greater diet fiber intake was observed in the intervention group (mean 11.6 grams [SD 8.0] vs mean 9.0 grams [SD 5.6]; P=.006). Adherence measurements did not significantly differ between 2 groups. ConclusionsIndividualized LGI diet consultations for overweight and obese pregnant women failed to make a significant difference in maternal or neonatal insulin resistance compared with the standard gestational diet consultation. Trial RegistrationClinicalTrials.gov NCT01628835; http://clinicaltrials.gov/ct2/show/NCT01628835 (Archived by WebCite at http://www.webcitation.org/77LHgWP0k)

Published
2019
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14. Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs

Author

Bastard, Paul, Vazquez, Sara, Liu, Jamin, Laurie, Matthew T, Wang, Chung Yu, Gervais, Adrian, Le Voyer, Tom, Bizien, Lucy, Zamecnik, Colin, Philippot, Quentin, Rosain, Jérémie, Catherinot, Emilie, Willmore, Andrew, Mitchell, Anthea M, Bair, Rebecca, Garçon, Pierre, Kenney, Heather, Fekkar, Arnaud, Salagianni, Maria, Poulakou, Garyphallia, Siouti, Eleni, Sahanic, Sabina, Tancevski, Ivan, Weiss, Günter, Nagl, Laurenz, Manry, Jérémy, Duvlis, Sotirija, Arroyo-Sánchez, Daniel, Artal, Estela Paz, Rubio, Luis, Perani, Cristiano, Bezzi, Michela, Sottini, Alessandra, Quaresima, Virginia, Roussel, Lucie, Vinh, Donald C, Reyes, Luis Felipe, Garzaro, Margaux, Hatipoglu, Nevin, Boutboul, David, Tandjaoui-Lambiotte, Yacine, Borghesi, Alessandro, Aliberti, Anna, Cassaniti, Irene, Venet, Fabienne, Monneret, Guillaume, Halwani, Rabih, Sharif-Askari, Narjes Saheb, Danielson, Jeffrey, Burrel, Sonia, Morbieu, Caroline, Stepanovskyy, Yurii, Bondarenko, Anastasia, Volokha, Alla, Boyarchuk, Oksana, Gagro, Alenka, Neuville, Mathilde, Neven, Bénédicte, Keles, Sevgi, Hernu, Romain, Bal, Antonin, Novelli, Antonio, Novelli, Giuseppe, Saker, Kahina, Ailioaie, Oana, Antolí, Arnau, Jeziorski, Eric, Rocamora-Blanch, Gemma, Teixeira, Carla, Delaunay, Clarisse, Lhuillier, Marine, Le Turnier, Paul, Zhang, Yu, Mahevas, Matthieu, Pan-Hammarström, Qiang, Abolhassani, Hassan, Bompoil, Thierry, Dorgham, Karim, Gorochov, Guy, Laouenan, Cédric, Rodríguez-Gallego, Carlos, Ng, Lisa FP, Renia, Laurent, Pujol, Aurora, Belot, Alexandre, Raffi, François, Allende, Luis M, Martinez-Picado, Javier, Ozcelik, Tayfun, Imberti, Luisa, Notarangelo, Luigi D, Troya, Jesus, Solanich, Xavier, Zhang, Shen-Ying, Puel, Anne, Wilson, Michael R, Trouillet-Assant, Sophie, Abel, Laurent, and Jouanguy, Emmanuelle

Subjects
Medical Microbiology, Biomedical and Clinical Sciences, Immunology, Prevention, Emerging Infectious Diseases, Coronaviruses, Pneumonia & Influenza, Pneumonia, Lung, Infectious Diseases, Immunization, Clinical Research, Biotechnology, Vaccine Related, Infection, Good Health and Well Being, Humans, COVID-19, COVID-19 Vaccines, SARS-CoV-2, Vaccines, Vaccination, Interferon Type I, RNA, Messenger, COVID HGE Consortium, French COVID Study Group, COMET Consortium, Clinical sciences
Abstract

Life-threatening "breakthrough" cases of critical COVID-19 are attributed to poor or waning antibody (Ab) response to SARS-CoV-2 vaccines in individuals already at risk. Preexisting auto-Abs neutralizing type I IFNs underlie at least 15% of critical COVID-19 pneumonia cases in unvaccinated individuals; their contribution to hypoxemic breakthrough cases in vaccinated people is unknown. We studied a cohort of 48 individuals (aged 20 to 86 years) who received two doses of a messenger RNA (mRNA) vaccine and developed a breakthrough infection with hypoxemic COVID-19 pneumonia 2 weeks to 4 months later. Ab levels to the vaccine, neutralization of the virus, and auto-Abs to type I IFNs were measured in the plasma. Forty-two individuals had no known deficiency of B cell immunity and a normal Ab response to the vaccine. Among them, 10 (24%) had auto-Abs neutralizing type I IFNs (aged 43 to 86 years). Eight of these 10 patients had auto-Abs neutralizing both IFN-α2 and IFN-ω, whereas two neutralized IFN-ω only. No patient neutralized IFN-β. Seven neutralized type I IFNs at 10 ng/ml and three at 100 pg/ml only. Seven patients neutralized SARS-CoV-2 D614G and Delta efficiently, whereas one patient neutralized Delta slightly less efficiently. Two of the three patients neutralizing only type I IFNs at 100 pg/ml neutralized both D614G and Delta less efficiently. Despite two mRNA vaccine inoculations and the presence of circulating Abs capable of neutralizing SARS-CoV-2, auto-Abs neutralizing type I IFNs may underlie a notable proportion of hypoxemic COVID-19 pneumonia cases, highlighting the importance of this particularly vulnerable population.

Published
2023

15. Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program

Author

Klarin, Derek, Devineni, Poornima, Sendamarai, Anoop K, Angueira, Anthony R, Graham, Sarah E, Shen, Ying H, Levin, Michael G, Pirruccello, James P, Surakka, Ida, Karnam, Purushotham R, Roychowdhury, Tanmoy, Li, Yanming, Wang, Minxian, Aragam, Krishna G, Paruchuri, Kaavya, Zuber, Verena, Shakt, Gabrielle E, Tsao, Noah L, Judy, Renae L, Vy, Ha My T, Verma, Shefali S, Rader, Daniel J, Do, Ron, Bavaria, Joseph E, Nadkarni, Girish N, Ritchie, Marylyn D, Burgess, Stephen, Guo, Dong-chuan, Ellinor, Patrick T, LeMaire, Scott A, Milewicz, Dianna M, Willer, Cristen J, Natarajan, Pradeep, Tsao, Philip S, Pyarajan, Saiju, and Damrauer, Scott M

Subjects
Cardiovascular, Genetics, Human Genome, Prevention, Aetiology, 2.1 Biological and endogenous factors, Humans, Genome-Wide Association Study, Veterans, Pedigree, Aortic Aneurysm, Thoracic, Aortic Dissection, VA Million Veteran Program, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

The current understanding of the genetic determinants of thoracic aortic aneurysms and dissections (TAAD) has largely been informed through studies of rare, Mendelian forms of disease. Here, we conducted a genome-wide association study (GWAS) of TAAD, testing ~25 million DNA sequence variants in 8,626 participants with and 453,043 participants without TAAD in the Million Veteran Program, with replication in an independent sample of 4,459 individuals with and 512,463 without TAAD from six cohorts. We identified 21 TAAD risk loci, 17 of which have not been previously reported. We leverage multiple downstream analytic methods to identify causal TAAD risk genes and cell types and provide human genetic evidence that TAAD is a non-atherosclerotic aortic disorder distinct from other forms of vascular disease. Our results demonstrate that the genetic architecture of TAAD mirrors that of other complex traits and that it is not solely inherited through protein-altering variants of large effect size.

Published
2023

26. Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Author

Matuozzo, Daniela, Talouarn, Estelle, Marchal, Astrid, Zhang, Peng, Manry, Jeremy, Seeleuthner, Yoann, Zhang, Yu, Bolze, Alexandre, Chaldebas, Matthieu, Milisavljevic, Baptiste, Gervais, Adrian, Bastard, Paul, Asano, Takaki, Bizien, Lucy, Barzaghi, Federica, Abolhassani, Hassan, Tayoun, Ahmad Abou, Aiuti, Alessandro, Darazam, Ilad Alavi, Allende, Luis M., Alonso-Arias, Rebeca, Arias, Andrés Augusto, Aytekin, Gokhan, Bergman, Peter, Bondesan, Simone, Bryceson, Yenan T., Bustos, Ingrid G., Cabrera-Marante, Oscar, Carcel, Sheila, Carrera, Paola, Casari, Giorgio, Chaïbi, Khalil, Colobran, Roger, Condino-Neto, Antonio, Covill, Laura E., Delmonte, Ottavia M., Zein, Loubna El, Flores, Carlos, Gregersen, Peter K., Gut, Marta, Haerynck, Filomeen, Halwani, Rabih, Hancerli, Selda, Hammarström, Lennart, Hatipoğlu, Nevin, Karbuz, Adem, Keles, Sevgi, Kyheng, Christèle, Leon-Lopez, Rafael, Franco, Jose Luis, Mansouri, Davood, Martinez-Picado, Javier, Akcan, Ozge Metin, Migeotte, Isabelle, Morange, Pierre-Emmanuel, Morelle, Guillaume, Martin-Nalda, Andrea, Novelli, Giuseppe, Novelli, Antonio, Ozcelik, Tayfun, Palabiyik, Figen, Pan-Hammarström, Qiang, de Diego, Rebeca Pérez, Planas-Serra, Laura, Pleguezuelo, Daniel E., Prando, Carolina, Pujol, Aurora, Reyes, Luis Felipe, Rivière, Jacques G., Rodriguez-Gallego, Carlos, Rojas, Julian, Rovere-Querini, Patrizia, Schlüter, Agatha, Shahrooei, Mohammad, Sobh, Ali, Soler-Palacin, Pere, Tandjaoui-Lambiotte, Yacine, Tipu, Imran, Tresoldi, Cristina, Troya, Jesus, van de Beek, Diederik, Zatz, Mayana, Zawadzki, Pawel, Al-Muhsen, Saleh Zaid, Alosaimi, Mohammed Faraj, Alsohime, Fahad M., Baris-Feldman, Hagit, Butte, Manish J., Constantinescu, Stefan N., Cooper, Megan A., Dalgard, Clifton L., Fellay, Jacques, Heath, James R., Lau, Yu-Lung, Lifton, Richard P., Maniatis, Tom, Mogensen, Trine H., von Bernuth, Horst, Lermine, Alban, Vidaud, Michel, Boland, Anne, Deleuze, Jean-François, Nussbaum, Robert, Kahn-Kirby, Amanda, Mentre, France, Tubiana, Sarah, Gorochov, Guy, Tubach, Florence, Hausfater, Pierre, Meyts, Isabelle, Zhang, Shen-Ying, Puel, Anne, Notarangelo, Luigi D., Boisson-Dupuis, Stephanie, Su, Helen C., Boisson, Bertrand, Jouanguy, Emmanuelle, Casanova, Jean-Laurent, Zhang, Qian, Abel, Laurent, and Cobat, Aurélie

Published
2024
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34. Visual effects of a forward-curled 3D map of the Forbidden City with eye-tracking

Author

Shen Ying, Junru Su, Yuan Zhuang, and Lina Huang

Subjects
Deformation visualization, forward-curled 3D map, eye tracking, wayfinding, the Forbidden City, Mathematical geography. Cartography, GA1-1776, Geodesy, QB275-343
Abstract

ABSTRACTIn urban environment visualization, including both traditional two-dimensional (2D) and three-dimensional (3D) visualization, the height of ground objects results in visual occlusions in ordinary 3D maps, which leads to challenges in displaying spatial relationships. We empirically studied the visual effects of a curled deformation method and assessed whether curled deformation visualization could help participants complete wayfinding tasks. The results revealed that a forward-curled map can include both ego-view and bird-view perspectives, ensure continuity from ego-view to bird-view perspectives, and address foreshortening effects. The remote, distant areas are pulled closer, thereby enhancing the sense of space and allowing participants to better understand the overall situation. A forward-curled map has a wider coverage range of fixation points and a wider scope of visual search and can improve a participant’s task completion efficiency. Moreover, the cognitive burden is not increased with this approach.

Published
2024
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35. The Role of a Ladderlike Communication Skill Course on Fostering Doctor-Patient Communication Competence of Students in Rural-oriented Free Tuition Medical Education Program

Author

CHEN Enran, SHEN Ying, WEI Yuning, WEI Siyu

Subjects
education, medical, undergraduate, general practice, rural-oriented free tuition medical education program students, doctor-patient communication, communication skill, ladderlike course, Medicine
Abstract

Background The phase of undergraduate medical education is the starting point for fostering communication competence of students in Rural-oriented Free Tuition Medical Education Program (RTME), which lays the foundation both for communication competence training in the postgraduate education phase and performing effective communications with patients and their relatives, colleagues, and other health personnel in the career life of general practitioners (GPs). It is of great practical significance to explore how to improve quality of doctor-patient communication education in the stage of undergraduate medical education and develop doctor-patient communication competence of the RTME students. Objective To explore the role of the ladderlike communication skill course on fostering doctor-patient communication competence of students in rural-oriented free tuition medical education program. Methods A total of 259 RTME students of Grade 2019 were selected from Guangxi Medical University in September 2019 to establish Cohort 1, and 262 undergraduate medical students of Grade 2019 were selected to establish Cohort 2. From September 2019 to January 2022, the students in Cohort 1 were trained in a ladderlike communication skill course lasting for five consecutive semesters; from September 2021 to January 2022, the students in both cohorts were trained in a doctor-patient communication course. The final exam scores and process assessment scores of the two cohorts on the doctor-patient communication course were compared and the evaluation of teaching effectiveness and satisfaction of ladderlike communication skill course were investigated in the students in Cohort 1. Results The RTME students achieved significantly greater total scores for the final exam of the doctor-patient communication course, in which the RTME students performed better on the sections of case analysis and small essay, but worse on the single-choice question section compared to the undergraduate medical students (P0.05). Over 80% of RTME students felt satisfied or absolutely satisfied with the content, pedagogical measures, faculty, schedule and effects of the ladderlike communication skill course, and more than 60% believed it helped or absolutely helped promote learning interest, increase confidence to encounter difficult patients, and raise multiple competence, including empathy, doctor-patient communication, language expression, problem resolution, and team work. Conclusion The ladderlike communication skill course significantly elevates the effects of doctor-patient communication education in the phase of undergraduate medical education for the RTME students, facilitates the development of doctor-patient communication competence and other comprehensive competence. The ladderlike course mode is an effective measure fostering doctor-patient communication competence of medical students in medical education, and makes a useful reference for communication competence training for postgraduate education and continuing education of general practice.

Published
2024
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37. Toll-Like Receptor 3 Mediates Aortic Stenosis Through a Conserved Mechanism of Calcification.

Author

Gollmann-Tepeköylü, Can, Graber, Michael, Hirsch, Jakob, Mair, Sophia, Naschberger, Andreas, Pölzl, Leo, Nägele, Felix, Kirchmair, Elke, Degenhart, Gerald, Demetz, Egon, Hilbe, Richard, Chen, Hao-Yu, Engert, James, Böhm, Anna, Franz, Nadja, Lobenwein, Daniela, Lener, Daniela, Fuchs, Christiane, Weihs, Anna, Töchterle, Sonja, Vogel, Georg, Schweiger, Victor, Eder, Jonas, Pietschmann, Peter, Seifert, Markus, Kronenberg, Florian, Coassin, Stefan, Blumer, Michael, Hackl, Hubert, Meyer, Dirk, Feuchtner, Gudrun, Kirchmair, Rudolf, Troppmair, Jakob, Krane, Markus, Weiss, Günther, Thanassoulis, George, Grimm, Michael, Rupp, Bernhard, Huber, Lukas, Zhang, Shen-Ying, Casanova, Jean-Laurent, Tancevski, Ivan, Holfeld, Johannes, and Tsimikas, Sotirios

Subjects
Toll-like receptor 3, aortic valve disease, biglycan, extracellular matrix, osteogenesis, proteins, Adult, Animals, Humans, Mice, Aortic Valve, Aortic Valve Stenosis, Biglycan, Calcinosis, Cells, Cultured, Toll-Like Receptor 3, Zebrafish
Abstract

BACKGROUND: Calcific aortic valve disease (CAVD) is characterized by a phenotypic switch of valvular interstitial cells to bone-forming cells. Toll-like receptors (TLRs) are evolutionarily conserved pattern recognition receptors at the interface between innate immunity and tissue repair. Type I interferons (IFNs) are not only crucial for an adequate antiviral response but also implicated in bone formation. We hypothesized that the accumulation of endogenous TLR3 ligands in the valvular leaflets may promote the generation of osteoblast-like cells through enhanced type I IFN signaling. METHODS: Human valvular interstitial cells isolated from aortic valves were challenged with mechanical strain or synthetic TLR3 agonists and analyzed for bone formation, gene expression profiles, and IFN signaling pathways. Different inhibitors were used to delineate the engaged signaling pathways. Moreover, we screened a variety of potential lipids and proteoglycans known to accumulate in CAVD lesions as potential TLR3 ligands. Ligand-receptor interactions were characterized by in silico modeling and verified through immunoprecipitation experiments. Biglycan (Bgn), Tlr3, and IFN-α/β receptor alpha chain (Ifnar1)-deficient mice and a specific zebrafish model were used to study the implication of the biglycan (BGN)-TLR3-IFN axis in both CAVD and bone formation in vivo. Two large-scale cohorts (GERA [Genetic Epidemiology Research on Adult Health and Aging], n=55 192 with 3469 aortic stenosis cases; UK Biobank, n=257 231 with 2213 aortic stenosis cases) were examined for genetic variation at genes implicated in BGN-TLR3-IFN signaling associating with CAVD in humans. RESULTS: Here, we identify TLR3 as a central molecular regulator of calcification in valvular interstitial cells and unravel BGN as a new endogenous agonist of TLR3. Posttranslational BGN maturation by xylosyltransferase 1 (XYLT1) is required for TLR3 activation. Moreover, BGN induces the transdifferentiation of valvular interstitial cells into bone-forming osteoblasts through the TLR3-dependent induction of type I IFNs. It is intriguing that Bgn-/-, Tlr3-/-, and Ifnar1-/- mice are protected against CAVD and display impaired bone formation. Meta-analysis of 2 large-scale cohorts with >300 000 individuals reveals that genetic variation at loci relevant to the XYLT1-BGN-TLR3-interferon-α/β receptor alpha chain (IFNAR) 1 pathway is associated with CAVD in humans. CONCLUSIONS: This study identifies the BGN-TLR3-IFNAR1 axis as an evolutionarily conserved pathway governing calcification of the aortic valve and reveals a potential therapeutic target to prevent CAVD.

Published
2023

38. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

Author

Astrid Marchal, Elizabeth T. Cirulli, Iva Neveux, Evangelos Bellos, Ryan S. Thwaites, Kelly M. Schiabor Barrett, Yu Zhang, Ivana Nemes-Bokun, Mariya Kalinova, Andrew Catchpole, Stuart G. Tangye, András N. Spaan, Justin B. Lack, Jade Ghosn, Charles Burdet, Guy Gorochov, Florence Tubach, Pierre Hausfater, Clifton L. Dalgard, Shen-Ying Zhang, Qian Zhang, Christopher Chiu, Jacques Fellay, Joseph J. Grzymski, Vanessa Sancho-Shimizu, Laurent Abel, Jean-Laurent Casanova, Aurélie Cobat, Alexandre Bolze, Alessandro Aiuti, Saleh Al-Muhsen, Fahd Al-Mulla, Ali Amara, Mark S. Anderson, Evangelos Andreakos, Andrés A. Arias, Lisa M. Arkin, Hagit Baris Feldman, Paul Bastard, Alexandre Belot, Catherine M. Biggs, Dusan Bogunovic, Anastasiia Bondarenko, Alessandro Borghesi, Ahmed A. Bousfiha, Petter Brodin, Yenan Bryceson, Manish J. Butte, Giorgio Casari, John Christodoulou, Roger Colobran, Antonio Condino-Neto, Stefan N. Constantinescu, Megan A. Cooper, Murkesh Desai, Beth A. Drolet, Xavier Duval, Jamila El Baghdadi, Philippine Eloy, Sara Espinosa-Padilla, Carlos Flores, José Luis Franco, Antoine Froidure, Peter K. Gregersen, Bodo Grimbacher, Filomeen Haerynck, David Hagin, Rabih Halwani, Lennart Hammarström, James R. Heath, Elena W.Y. Hsieh, Eystein Husebye, Kohsuke Imai, Yuval Itan, Emmanuelle Jouanguy, Elżbieta Kaja, Timokratis Karamitros, Kai Kisand, Cheng-Lung Ku, Yu-Lung Lau, Yun Ling, Carrie L. Lucas, Tom Maniatis, Davood Mansouri, László Maródi, France Mentré, Isabelle Meyts, Joshua D. Milner, Kristina Mironska, Trine H. Mogensen, Tomohiro Morio, Lisa F.P. Ng, Luigi D. Notarangelo, Antonio Novelli, Giuseppe Novelli, Cliona O'Farrelly, Satoshi Okada, Keisuke Okamoto, Tayfun Ozcelik, Qiang Pan-Hammarström, Jean W. Pape, Rebeca Perez de Diego, Jordi Perez-Tur, David S. Perlin, Graziano Pesole, Anna M. Planas, Carolina Prando, Aurora Pujol, Anne Puel, Lluis Quintana-Murci, Sathishkumar Ramaswamy, Laurent Renia, Igor Resnick, Carlos Rodríguez-Gallego, Anna Sediva, Mikko R.J. Seppänen, Mohammad Shahrooei, Anna Shcherbina, Ondrej Slaby, Andrew L. Snow, Pere Soler-Palacín, Vassili Soumelis, Ivan Tancevski, Ahmad Abou Tayoun, Şehime Gülsün Temel, Christian Thorball, Pierre Tiberghien, Sophie Trouillet-Assant, Stuart E. Turvey, K. M. Furkan Uddin, Mohammed J. Uddin, Diederik van de Beek, Donald C. Vinh, Horst von Bernuth, Joost Wauters, Mayana Zatz, Pawel Zawadzki, Serge Bureau, Yannick Vacher, Anne Gysembergh-Houal, Lauren Demerville, Abla Benleulmi-Chaachoua, Sebastien Abad, Radhiya Abassi, Abdelrafie Abdellaoui, Abdelkrim Abdelmalek, Hendy Abdoul, Helene Abergel, Fariza Abeud, Sophie Abgrall, Noemie Abisror, Marylise Adechian, Nordine Aderdour, Hakeem Farid Admane, Frederic Adnet, Sara Afritt, Helene Agostini, Claire Aguilar, Sophie Agut, Tommaso Francesco Aiello, Marc Ait Kaci, Hafid Ait Oufella, Gokula Ajeenthiravasan, Virginie Alauzy, Fanny Alby-Laurent, Lucie Allard, Marie-Alexandra Alyanakian, Blanca Amador Borrero, Sabrina Amam, Lucile Amrouche, Marc Andronikof, Dany Anglicheau, Nadia Anguel, Djillali Annane, Mohammed Aounzou, Caroline Aparicio, Gladys Aratus, Jean-Benoit Arlet, Jeremy Arzoine, Elisabeth Aslangul, Mona Assefi, Adeline Aubry, Laetitia Audiffred, Etienne Audureau, Christelle Nathalie Auger, Jean-Charles Auregan, Celine Awotar, Sonia Ayllon Milla, Delphine Azan, Laurene Azemar, Billal Azzouguen, Marwa Bachir Elrufaai, Aïda Badsi, Prissile Bakouboula, Coline Balcerowiak, Fanta Balde, Elodie Baldivia, Eliane-Flore Bangamingo, Amandine Baptiste, Fanny Baran-Marszak, Caroline Barau, Nathalie Barget, Flore Baronnet, Romain Barthelemy, Jean-Luc Baudel, Camille Baudry, Elodie Baudry, Laurent Beaugerie, Adel Belamri, Nicolas Belaube, Rhida Belilita, Pierre Bellassen, Rawan Belmokhtar, Isabel Beltran, Ruben Benainous, Mourad Benallaoua, Robert Benamouzig, Amélie Benbara, Jaouad Benhida, Anis Benkhelouf, Jihene Benlagha, Chahinez Benmostafa, Skander Benothmane, Miassa Bentifraouine, Laurence Berard, Quentin Bernier, Enora Berti, Astrid Bertier, Laure Berton, Simon Bessis, Alexandra Beurton, Celine Bianco, Clara Bianquis, Frank Bidar, Philippe Blanche, Clarisse Blayau, Alexandre Bleibtreu, Emmanuelle Blin, Coralie Bloch-Queyrat, Marie-Christophe Boissier, Diane Bollens, Marion Bolzoni, Rudy pierre Bompard, Nicolas Bonnet, Justine Bonnouvrier, Shirmonecrystal Botha, Wissam Boucenna, Fatiha Bouchama, Olivier Bouchaud, Hanane Bouchghoul, Taoueslylia Boudjebla, Noel Boudjema, Catherine Bouffard, Adrien Bougle, Meriem Bouguerra, Leila Bouras, Agnes Bourcier, Anne Bourgarit Durand, Anne Bourrier, Fabrice Bouscarat, Diane Bouvry, Nesrine Bouziri, Ons Bouzrara, Sarah Bribier, Delphine Brugier, Melanie Brunel, Eida Bui, Anne Buisson, Iryna Bukreyeva, Côme Bureau, Jacques Cadranel, Johann Cailhol, Ruxandra Calin, Clara Campos Vega, Pauline Canavaggio, Marta Cancella, Delphine Cantin, Albert Cao, Lionel Carbillon, Nicolas Carlier, Clementine Cassard, Guylaine Castor, Marion Cauchy, Olivier Cha, Benjamin Chaigne, Salima Challal, Karine Champion, Patrick Chariot, Julie Chas, Simon Chauveau, Anthony Chauvin, Clement Chauvin, Nathalie Chavarot, Kamélia Chebbout, Mustapha Cherai, Ilaria Cherubini, Amelie Chevalier, Thibault Chiarabini, Thierry Chinet, Richard Chocron, Pascaline Choinier, Juliette Chommeloux, Christophe Choquet, Laure 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Rodero, Carlos Rodrigo, Luis Antonio Rodriguez, Carlos Rodriguez-Gallego, Agustí Rodriguez-Palmero, Carolina Soledad Romero, Anya Rothenbuhler, Damien Roux, Nikoletta Rovina, Flore Rozenberg, Yvon Ruch, Montse Ruiz, Maria Yolanda Ruiz del Prado, Juan Carlos Ruiz-Rodriguez, Joan Sabater-Riera, Kai Saks, Maria Salagianni, Oliver Sanchez, Adrián Sánchez-Montalvá, Silvia Sánchez-Ramón, Laire Schidlowski, Agatha Schluter, Julien Schmidt, Matthieu Schmidt, Catharina Schuetz, Cyril E. Schweitzer, Francesco Scolari, Luis Seijo, Analia Gisela Seminario, Piseth Seng, Sevtap Senoglu, Mikko Seppänen, Alex Serra Llovich, Virginie Siguret, Eleni Siouti, David M. Smadja, Nikaia Smith, Ali Sobh, Xavier Solanich, Jordi Solé-Violán, Catherine Soler, Betül Sözeri, Giulia Maria Stella, Yuriy Stepanovskiy, Annabelle Stoclin, Fabio Taccone, Jean-Luc Taupin, Simon J. Tavernier, Loreto Vidaur Tello, Benjamin Terrier, Guillaume Thiery, Karolina Thorn, Caroline Thumerelle, Imran Tipu, Martin Tolstrup, Gabriele Tomasoni, Julie Toubiana, Josep Trenado Alvarez, Vasiliki Triantafyllia, Jesús Troya, Owen T.Y. Tsang, Liina Tserel, Eugene Y.K. Tso, Alessandra Tucci, Şadiye Kübra Tüter Öz, Matilde Valeria Ursini, Takanori Utsumi, Pierre Vabres, Juan Valencia-Ramos, Ana Maria Van Den Rym, Isabelle Vandernoot, Valentina Velez-Santamaria, Silvia Patricia Zuniga Veliz, Mateus C. Vidigal, Sébastien Viel, Cédric Villain, Marie E. Vilaire-Meunier, Judit Villar-García, Audrey Vincent, Dimitri Van der Linden, Alla Volokha, Fanny Vuotto, Els Wauters, Alan K.L. Wu, Tak-Chiu Wu, Aysun Yahşi, Osman Yesilbas, Mehmet Yildiz, Barnaby E. Young, Ufuk Yükselmiş, Marco Zecca, Valentina Zuccaro, Jens Van Praet, Bart N. Lambrecht, Eva Van Braeckel, Cédric Bosteels, Levi Hoste, Eric Hoste, Fré Bauters, Jozefien De Clercq, Catherine Heijmans, Hans Slabbynck, Leslie Naesens, Benoit Florkin, Mary-Anne Young, Amanda Willis, Paloma Lapuente-Suanzes, Ana de Andrés-Martín, Matilda Berkell, Valerio Carelli, Alessia Fiorentino, Surbhi Malhotra, Alessandro Mattiaccio, Tommaso Pippucci, Marco Seri, Evelina Tacconelli, Michiel van Agtmael, Anne Geke Algera, Brent Appelman, Frank van Baarle, Diane Bax, Martijn Beudel, Harm Jan Bogaard, Marije Bomers, Peter Bonta, Lieuwe Bos, Michela Botta, Justin de Brabander, Godelieve de Bree, Sanne de Bruin, David T.P. Buis, Marianna Bugiani, Esther Bulle, Osoul Chouchane, Alex Cloherty, Mirjam Dijkstra, Dave A. Dongelmans, Romein W.G. Dujardin, Paul Elbers, Lucas Fleuren, Suzanne Geerlings, Theo Geijtenbeek, Armand Girbes, Bram Goorhuis, Martin P. Grobusch, Florianne Hafkamp, Laura Hagens, Jorg Hamann, Vanessa Harris, Robert Hemke, Sabine M. Hermans, Leo Heunks, Markus Hollmann, Janneke Horn, Joppe W. Hovius, Menno D. de Jong, Rutger Koning, Endry H.T. Lim, Niels van Mourik, Jeaninne Nellen, Esther J. Nossent, Frederique Paulus, Edgar Peters, Dan A.I. Pina-Fuentes, Tom van der Poll, Bennedikt Preckel, Jan M. Prins, Jorinde Raasveld, Tom Reijnders, Maurits C.F. J. de Rotte, Michiel Schinkel, Marcus J. Schultz, Femke A.P. Schrauwen, Alex Schuurmans, Jaap Schuurmans, Kim Sigaloff, Marleen A. Slim, Patrick Smeele, Marry Smit, Cornelis S. Stijnis, Willemke Stilma, Charlotte Teunissen, Patrick Thoral, Anissa M. Tsonas, Pieter R. Tuinman, Marc van der Valk, Denise P. Veelo, Carolien Volleman, Heder de Vries, Lonneke A. Vught, Michèle van Vugt, Dorien Wouters, A.H. Zwinderman, Matthijs C. Brouwer, W. Joost Wiersinga, Alexander P.J. Vlaar, Miranda F. Tompkins, Camille Alba, Daniel N. Hupalo, John Rosenberger, Gauthaman Sukumar, Matthew D. Wilkerson, Xijun Zhang, Justin Lack, Andrew J. Oler, Kerry Dobbs, Ottavia M. Delmonte, Jeffrey J. Danielson, Andrea Biondi, Laura Rachele Bettini, Mariella D’Angiò, Ilaria Beretta, Luisa Imberti, Alessandra Sottini, Virginia Quaresima, Eugenia Quiros-Roldan, Camillo Rossi, Riccardo Castagnoli, Daniela Montagna, Amelia Licari, and Gian Luigi Marseglia

Subjects
HLA, association, asymptomatic infection, COVID-19, population stratification, Genetics, QH426-470
Abstract

Summary: Human genetic studies of critical COVID-19 pneumonia have revealed the essential role of type I interferon-dependent innate immunity to SARS-CoV-2 infection. Conversely, an association between the HLA-B∗15:01 allele and asymptomatic SARS-CoV-2 infection in unvaccinated individuals was recently reported, suggesting a contribution of pre-existing T cell-dependent adaptive immunity. We report a lack of association of classical HLA alleles, including HLA-B∗15:01, with pre-omicron asymptomatic SARS-CoV-2 infection in unvaccinated participants in a prospective population-based study in the United States (191 asymptomatic vs. 945 symptomatic COVID-19 cases). Moreover, we found no such association in the international COVID Human Genetic Effort cohort (206 asymptomatic vs. 574 mild or moderate COVID-19 cases and 1,625 severe or critical COVID-19 cases). Finally, in the Human Challenge Characterisation study, the three HLA-B∗15:01 individuals infected with SARS-CoV-2 developed symptoms. As with other acute primary infections studied, no classical HLA alleles favoring an asymptomatic course of SARS-CoV-2 infection were identified.

Published
2024
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42. Validity and Reliability of an Evaluation Index System for Consultation Competency of General Practitioners Practicing in Primary Care Settings

Author

GU Jingmei, JI Shuyu, XI Qian, PENG Houxuan, QIN Li, ZHAO Can, CHEN Peimeng, HUANG Xiaocui, LIANG Ruiying, SHEN Ying

Subjects
general practitioners, consultation competency, reliability and validity, confirmatory factor analysis, second-order model, Medicine
Abstract

Background Currently, there is a lack of clinical competence evaluation tools applicable of general practitioners (GPs) practicing in rural settings in China, resulting in the lack of researches on the clinical competence evaluation of GPs in rural. Objective To explore reliability and validity of an evaluation index system for consultation competency of rural GPs developed previously, and provide an evaluation tool with high reliability and validity for scientific and objective assessment of consultation competence of GPs in rural settings. Methods Based on the evaluation system for consultation competency of rural GPs, a corresponding questionnaire was designed, and points were assigned to each option on a 5-point Likert scale. From September to December 2022, GPs or assistant general practitioners (AGPs) who were working in rural township health centers in Guangxi Province were recruited as the research subjects by using the purposive sampling and stratified sampling methods, the questionnaire was distributed through a national web-based survey platform-"WJX" to them. Cronbach's α coefficient, split-half coefficient, critical ratio (CR) and correlation coefficients were calculated based on questionnaire data. Confirmative factor analysis was employed to fit questionnaire data and assumed model, and calculate three categories of indicators, including preliminary fit criteria (PFC), overall model fit (OMF), and fit of internal structural model (FISM), to verify the degree of fit and structural validity of the measured data. Results A total of 600 questionnaires were distributed and 366 were validly collected, with an effective recovery rate of 61.0%, 86.1% were registered as GPs and 13.9% as AGPs, who came from five cities, including Nanning, Guilin, Wuzhou, Baise, and Guigang, and 204 township health centers in Guangxi Province. Cronbach'α coefficient for the whole questionnaire or for every section was higher than 0.700, and Guttman Split-Half coefficient was 0.931. The initial first-order model met the PFC well; except for goodness of fit index (GFI), adjusted goodness of fit index (AGFI), and normed fit index (NFI), other indicators related to the OMF reached for the best levels in the modified first-order model. Apart from R2 for 9 observable variables less than 0.5, the FISM for the modified first-order model showed good effects. The initial second-order model indicated as similar effects on the PFC as the initial first-order model; the modified second-order model shared similar OMF with the modified first-order model; the modified second-order model was inferior to the modified first-order model in terms of the FISM. Eventually, questionnaire data fitted the modified first-order model better. Conclusion The evaluation index system for consultation competency of rural GPs shows high reliability and validity, which can be used for research and practical work on the evaluation of consultation competence evaluation of GPs in rural settings.

Published
2024
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43. Construction of an Evaluation Index System for Consultation Competency of General Practitioners in Primary Health Care Settings Based on Leicester Assessment Package

Author

GU Jingmei, QIN Li, ZHAO Can, PENG Houxuan, XI Qian, SHEN Ying

Subjects
general practitioners, consultation competency, analytic hierarchy process, assessment system, leicester assessment package, Medicine
Abstract

Background Training general practitioners (GPs) and improving the practice competence of "GP-centered" primary health care personnel are important directions of the development of human resources for primary health care in China. At present, there is lack of an index system applicable to evaluate clinical competence of GPs in the circumstances of primary health care in China, which not only hampers accurate identification of gaps in clinical competence of GPs, but also impedes sustainable improvement of the education and training of GPs as well as primary health care personnel. Objective To develop an evaluation index system for consultation competency of GPs in the circumstances of primary health care in China based on the original version of Leicester Assessment Package (LAP), so as to provide an index model reference for the objective evaluation of consultation competency of GPs. Methods Between May to August in 2022, a total of 15 experts were invited by using the purposive sampling method to implement the Delphi method by correspondence, to evaluate the importance, feasibility, and textual representation of each index in the initial evaluation index system for consultation competency of GPs. Analytic hierarchy process was adopted to calculate weight and combined weight for the first-level and secondary-level indexes. Results A total of two rounds of Delphi were conducted. The positivity coefficient, familiarity level, judgment coefficient, and authority coefficient were 100%, 0.77, 0.91, and 0.84 in both rounds of consultation; the mean score of the importance and feasibility of each indicator was 3.5, and the variation coefficient was 0.3. The Kendall coefficients for the importance and feasibility of the indexes in the two rounds of consultation were statistically different (P

Published
2024
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45. Autoantibody discovery across monogenic, acquired, and COVID-19-associated autoimmunity with scalable PhIP-seq.

Author

Vazquez, Sara E, Mann, Sabrina A, Bodansky, Aaron, Kung, Andrew F, Quandt, Zoe, Ferré, Elise MN, Landegren, Nils, Eriksson, Daniel, Bastard, Paul, Zhang, Shen-Ying, Liu, Jamin, Mitchell, Anthea, Proekt, Irina, Yu, David, Mandel-Brehm, Caleigh, Wang, Chung-Yu, Miao, Brenda, Sowa, Gavin, Zorn, Kelsey, Chan, Alice Y, Tagi, Veronica M, Shimizu, Chisato, Tremoulet, Adriana, Lynch, Kara, Wilson, Michael R, Kämpe, Olle, Dobbs, Kerry, Delmonte, Ottavia M, Bacchetta, Rosa, Notarangelo, Luigi D, Burns, Jane C, Casanova, Jean-Laurent, Lionakis, Michail S, Torgerson, Troy R, Anderson, Mark S, and DeRisi, Joseph L

Subjects
Humans, Bacteriophages, Autoimmune Diseases, Homeodomain Proteins, Proteome, Autoantibodies, Autoantigens, Immunoprecipitation, Autoimmunity, COVID-19, APS1, IPEX, PhIP-seq, autoantibody, autoantigen, human, immunology, inflammation, Autoimmune Disease, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Human, Biochemistry and Cell Biology
Abstract

Phage immunoprecipitation sequencing (PhIP-seq) allows for unbiased, proteome-wide autoantibody discovery across a variety of disease settings, with identification of disease-specific autoantigens providing new insight into previously poorly understood forms of immune dysregulation. Despite several successful implementations of PhIP-seq for autoantigen discovery, including our previous work (Vazquez et al., 2020), current protocols are inherently difficult to scale to accommodate large cohorts of cases and importantly, healthy controls. Here, we develop and validate a high throughput extension of PhIP-seq in various etiologies of autoimmune and inflammatory diseases, including APS1, IPEX, RAG1/2 deficiency, Kawasaki disease (KD), multisystem inflammatory syndrome in children (MIS-C), and finally, mild and severe forms of COVID-19. We demonstrate that these scaled datasets enable machine-learning approaches that result in robust prediction of disease status, as well as the ability to detect both known and novel autoantigens, such as prodynorphin (PDYN) in APS1 patients, and intestinally expressed proteins BEST4 and BTNL8 in IPEX patients. Remarkably, BEST4 antibodies were also found in two patients with RAG1/2 deficiency, one of whom had very early onset IBD. Scaled PhIP-seq examination of both MIS-C and KD demonstrated rare, overlapping antigens, including CGNL1, as well as several strongly enriched putative pneumonia-associated antigens in severe COVID-19, including the endosomal protein EEA1. Together, scaled PhIP-seq provides a valuable tool for broadly assessing both rare and common autoantigen overlap between autoimmune diseases of varying origins and etiologies.

Published
2022

48. Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Author

Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M. Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T. Bryceson, Ingrid G. Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E. Covill, Ottavia M. Delmonte, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M. Alsohime, Hagit Baris-Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, Yu-Lung Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, COVID Human Genetic Effort, COVIDeF Study Group, French COVID Cohort Study Group, CoV-Contact Cohort, COVID Clinicians, Orchestra Working Group, Amsterdam UMC Covid-19 Biobank, NIAID-USUHS COVID Study Group, Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D. Notarangelo, Stephanie Boisson-Dupuis, Helen C. Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, and Aurélie Cobat

Subjects
Medicine, Genetics, QH426-470
Published
2024
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