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1Academic Journal
المؤلفون: Materna, Marie, Delmonte, Ottavia, M, Bosticardo, Marita, Momenilandi, Mana, Conrey, Peyton, E, Charmeteau-de Muylder, Bénédicte, Bravetti, Clotilde, Bellworthy, Rebecca, Cederholm, Axel, Staels, Frederik, Ganoza, Christian, A, Darko, Samuel, Sayed, Samir, Le Floc’h, Corentin, Ogishi, Masato, Rinchai, Darawan, Guenoun, Andrea, Bolze, Alexandre, Khan, Taushif, Gervais, Adrian, Krüger, Renate, Völler, Mirjam, Palterer, Boaz, Sadeghi-Shabestari, Mahnaz, Langlois de Septenville, Anne, Schramm, Chaim, A, Shah, Sanjana, Tello-Cajiao, John, J, Pala, Francesca, Amini, Kayla, Campos, Jose, S, Lima, Noemia Santana, Eriksson, Daniel, Lévy, Romain, Seeleuthner, Yoann, Jyonouchi, Soma, Ata, Manar, Al Ali, Fatima, Deswarte, Caroline, Pereira, Anaïs, Mégret, Jérôme, Le Voyer, Tom, Bastard, Paul, Berteloot, Laureline, Dussiot, Michaël, Vladikine, Natasha, Cardenas, Paula, P, Jouanguy, Emmanuelle, Alqahtani, Mashael, Hasan, Amal, Thanaraj, Thangavel Alphonse, Rosain, Jérémie, Al Qureshah, Fahd, Sabato, Vito, Alyanakian, Marie Alexandra, Leruez-Ville, Marianne, Rozenberg, Flore, Haddad, Elie, Regueiro, Jose, R, Toribio, Maria, L, Kelsen, Judith, R, Salehi, Mansoor, Nasiri, Shahram, Torabizadeh, Mehdi, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Vatandoost, Nasimeh, Moravej, Hossein, Akrami, Seyed Mohammad, Mazloomrezaei, Mohsen, Cobat, Aurélie, Meyts, Isabelle, Toyofuku, Etsushi, Nishimura, Madoka, Moriya, Kunihiko, Mizukami, Tomoyuki, Imai, Kohsuke, Abel, Laurent, Malissen, Bernard, Al-Mulla, Fahd, Alkuraya, Fowzan Sami, Parvaneh, Nima, von Bernuth, Horst, Beetz, Christian, Davi, Frédéric, Douek, Daniel, C, Cheynier, Rémi, Langlais, David, Landegren, Nils, Marr, Nico, Morio, Tomohiro, Shahrooei, Mohammad, Schrijvers, Rik, Henrickson, Sarah, E, Luche, Hervé, Notarangelo, Luigi, D, Casanova, Jean-Laurent, Béziat, Vivien
المساهمون: National Institutes of Health Bethesda, MD, USA (NIH), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Uppsala Universitet Uppsala, Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven), Rockefeller University New York, Helix San Mateo, CA, Sidra Medicine Doha, Qatar, Hamad Bin Khalifa University Doha, Qatar (HBKU), Human genetics of infectious diseases : Mendelian predisposition (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), ANR-21-CE15-0034,CARMIL2,Bases moléculaires, cellulaires et immunologiques de la déficience combinée résultant de mutations dans CARMIL2(2021), ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), European Project: 101057100,HORIZON-HLTH-2021-DISEASE-04 ,UNDINE(2022)
المصدر: ISSN: 0036-8075.
مصطلحات موضوعية: Data curation, Visualization, Software, Validation, Formal analysis, Investigation, [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/grantAgreement//101057100/EU/The human genetic and immunological determinants of the clinical manifestations of SARS-CoV-2 infection: Towards personalised medicine/UNDINE
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2Academic Journal
المؤلفون: Materna, Marie, Delmonte, Ottavia M., Bosticardo, Marita, Momenilandi, Mana, Conrey, Peyton E., Charmeteau-De Muylder, Benedicte, Bravetti, Clotilde, Bellworthy, Rebecca, Cederholm, Axel, Staels, Frederik, Ganoza, Christian A., Darko, Samuel, Sayed, Samir, Le Floc'h, Corentin, Ogishi, Masato, Rinchai, Darawan, Guenoun, Andrea, Bolze, Alexandre, Khan, Taushif, Gervais, Adrian, Krueger, Renate, Voeller, Mirjam, Palterer, Boaz, Sadeghi-Shabestari, Mahnaz, de Septenville, Anne Langlois, Schramm, Chaim A., Shah, Sanjana, Tello-Cajiao, John J., Pala, Francesca, Amini, Kayla, Campos, Jose S., Lima, Noemia Santana, Eriksson, Daniel, Levy, Romain, Seeleuthner, Yoann, Jyonouchi, Soma, Ata, Manar, Al Ali, Fatima, Deswarte, Caroline, Pereira, Anais, Megret, Jerome, Le Voyer, Tom, Bastard, Paul, Berteloot, Laureline, Dussiot, Michael, Vladikine, Natasha, Cardenas, Paula P., Jouanguy, Emmanuelle, Alqahtani, Mashael, Hasan, Amal, Thanaraj, Thangavel Alphonse, Rosain, Jeremie, Al Qureshah, Fahd, Sabato, Vito, Alyanakian, Marie Alexandra, Leruez-Ville, Marianne, Rozenberg, Flore, Haddad, Elie, Regueiro, Jose R., Toribio, Maria L., Kelsen, Judith R., Salehi, Mansoor, Nasiri, Shahram, Torabizadeh, Mehdi, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Vatandoost, Nasimeh, Moravej, Hossein, Akrami, Seyed Mohammad, Mazloomrezaei, Mohsen, Cobat, Aurelie, Meyts, Isabelle, Toyofuku, Etsushi, Nishimura, Madoka, Moriya, Kunihiko, Mizukami, Tomoyuki, Imai, Kohsuke, Abel, Laurent, Malissen, Bernard, Al-Mulla, Fahd, Alkuraya, Fowzan Sami, Parvaneh, Nima, von Bernuth, Horst, Beetz, Christian, Davi, Frederic, Douek, Daniel C., Cheynier, Remi, Langlais, David, Landegren, Nils, Marr, Nico, Morio, Tomohiro, Shahrooei, Mohammad, Schrijvers, Rik, Henrickson, Sarah E., Luche, Herve, Notarangelo, Luigi D., Casanova, Jean-Laurent, Beziat, Vivien
المصدر: 0036-8075 ; Science
مصطلحات موضوعية: Human medicine
Relation: info:eu-repo/semantics/altIdentifier/isi/001190818400035
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3Academic Journal
المؤلفون: Engelen, Sofie, Dens, Anne‐Catherine, Staels, Frederik, Schrijvers, Rik, Blockmans, Daniel, Vanderschueren, Steven, Betrains, Albrecht, Woei‐A‐Jin, F. J. Sherida H., Vanstapel, Arno, Bosisio, Franscesca, De Haes, Petra
المصدر: JEADV Clinical Practice ; volume 3, issue 4, page 1035-1048 ; ISSN 2768-6566 2768-6566
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4Academic Journal
المؤلفون: Staels, Frederik, Bücken, Leoni, De Vuyst, Leana, Willemsen, Mathijs, Van Nieuwenhove, Erika, Gerbaux, Margaux, Neumann, Julika, Malviya, Vanshika, Van Meerbeeck, Lize, Haughton, Jeason, Seldeslachts, Laura, Gouwy, Mieke, Martinod, Kimberly, Vande Velde, Greetje, Proost, Paul, Yshii, Lidia, Schlenner, Susan, Schrijvers, Rik, Liston, Adrian, Humblet-Baron, Stephanie
المساهمون: Fonds Wetenschappelijk Onderzoek, KU Leuven
المصدر: Frontiers in Immunology ; volume 15 ; ISSN 1664-3224
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5Academic Journal
المؤلفون: Willemsen, Mathijs, Barber, John S, Van Nieuwenhove, Erika, Staels, Frederik, Gerbaux, Margaux, Neumann, Julika, Prezzemolo, Teresa, Pasciuto, Emanuela, Lagou, Vasiliki, Boeckx, Nancy, Filtjens, Jessica, De Visscher, Amber, Matthys, Patrick, Schrijvers, Rik, Tousseyn, Thomas, O'Driscoll, Mark, Bucciol, Giorgia, Schlenner, Susan, Meyts, Isabelle, Humblet-Baron, Stephanie, Liston, Adrian
وصف الملف: application/pdf
Relation: http://sro.sussex.ac.uk/id/eprint/111486/1/PIIS0091674923002300.pdf; Willemsen, Mathijs, Barber, John S, Van Nieuwenhove, Erika, Staels, Frederik, Gerbaux, Margaux, Neumann, Julika, Prezzemolo, Teresa, Pasciuto, Emanuela, Lagou, Vasiliki, Boeckx, Nancy, Filtjens, Jessica, De Visscher, Amber, Matthys, Patrick, Schrijvers, Rik, Tousseyn, Thomas, O'Driscoll, Mark, Bucciol, Giorgia, Schlenner, Susan, Meyts, Isabelle, Humblet-Baron, Stephanie and Liston, Adrian (2023) Homozygous DBF4 mutation as a cause for severe congenital neutropenia. Journal of Allergy and Clinical Immunology. aS0091 1-12. ISSN 0091-6749
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6Academic Journal
المؤلفون: Willemsen, Mathijs, Barber, John J.S., Van Nieuwenhove, Erika, Staels, Frederik, Gerbaux, Margaux, Neumann, Julika, Prezzemolo, Teresa, Pasciuto, Emanuela, Lagou, Vasiliki, Boeckx, Nancy, Filtjens, Jessica, De Visscher, Amber, Matthys, Patrick, Schrijvers, Rik, Tousseyn, Thomas, O'Driscoll, Mark, Bucciol, Giorgia, Schlenner, Susan, Meyts, Isabelle, Humblet-Baron, Stéphanie, Liston, Adrian
المصدر: Journal of allergy and clinical immunology, 152 (1
مصطلحات موضوعية: Immunologie, Allergie et immunopathologie, DBF4, DNA replication, facial dysmorphism, genetics, inborn errors of immunity, mutation, neutropenia, perturbed growth, primary immunodeficiency
وصف الملف: 1 full-text file(s): application/pdf
Relation: uri/info:doi/10.1016/j.jaci.2023.02.016; uri/info:pii/S0091674923002300; uri/info:pmid/36841265; uri/info:scp/85150757691; https://dipot.ulb.ac.be/dspace/bitstream/2013/372115/1/doi_355759.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/372115
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7Academic Journal
المؤلفون: Gerbaux, Margaux, Roos, Evelyne, Willemsen, Mathijs, Staels, Frederik, Neumann, Julika, Bücken, Leoni, Haughton, Jeason, Yshii, Lidia, Dooley, James, Schlenner, Susan, Humblet-Baron, Stéphanie, Liston, Adrian
المصدر: Journal of clinical immunology, 43 (6
مصطلحات موضوعية: Immunologie, Allergie et immunopathologie, FOXP3 deficiency, Immunosuppressive treatment, Inborn error of immunity, IPEX, Mouse model
وصف الملف: 1 full-text file(s): application/pdf
Relation: uri/info:doi/10.1007/s10875-023-01462-2; uri/info:pmid/37156988; uri/info:scp/85158152680; https://dipot.ulb.ac.be/dspace/bitstream/2013/370916/1/doi_354560.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/370916
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8Academic Journal
المؤلفون: Roosens, Willem, Staels, Frederik, Van Loo, Sien, Humblet-Baron, Stephanie, Meyts, Isabelle, De Samblanx, Hadewijch, Verslype, Chris, van Malenstein, Hannah, van der Merwe, Schalk, Laleman, Wim, Schrijvers, Rik
المصدر: Frontiers in Immunology ; volume 14 ; ISSN 1664-3224
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9Academic Journal
المؤلفون: Blommaert, Eline, Péanne, Romain, Cherepanova, Natalia A., Rymen, Daisy, Staels, Frederik, Jaeken, Jaak, Race, Valérie, Keldermans, Liesbeth, Souche, Erika, Corveleyn, Anniek, Sparkes, Rebecca, Bhattacharya, Kaustuv, Devalck, Christine, Schrijvers, Rik, Foulquier, François, Gilmore, Reid, Matthijs, Gert
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2019 May . 116(20), 9865-9870.
URL الوصول: https://www.jstor.org/stable/26705225
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10Academic Journal
المؤلفون: Blommaert, Eline, Cherepanova, Natalia, A, Staels, Frederik, Wilson, Matthew, P, Gilmore, Reid, Schrijvers, Rik, Jaeken, Jaak, Foulquier, François, Matthijs, Gert
المساهمون: Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven), University of Massachusetts Medical School Worcester (UMASS), University of Massachusetts System (UMASS), Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS), ANR-18-RAR3-0009,EUROGLYCAN(2018)
المصدر: ISSN: 0340-6717.
مصطلحات موضوعية: CDG, OST, STT3B, MAGT1, XMEN, NKG2D, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.IMM.II]Life Sciences [q-bio]/Immunology/Innate immunity, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism
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11Academic Journal
المؤلفون: Spaan, András, Neehus, Anna-Lena, Laplantine, Emmanuel, Staels, Frederik, Ogishi, Masato, Seeleuthner, Yoann, Rapaport, Franck, Lacey, Keenan, van Nieuwenhove, Erika, Chrabieh, Maya, Hum, David, Migaud, Mélanie, Izmiryan, Araksya, Lorenzo, Lazaro, Kochetkov, Tatiana, Heesterbeek, Dani, Bardoel, Bart, Dumont, Ashley, Dobbs, Kerry, Chardonnet, Solenne, Heissel, Søren, Baslan, Timour, Zhang, Peng, Yang, Rui, Bogunovic, Dusan, Wunderink, Herman, Haas, Pieter-Jan, Molina, Henrik, van Buggenhout, Griet, Lyonnet, Stanislas, Notarangelo, Luigi, Seppänen, Mikko, Weil, Robert, Seminario, Gisela, Gomez-Tello, Héctor, Wouters, Carine, Mesdaghi, Mehrnaz, Shahrooei, Mohammad, Bossuyt, Xavier, Sag, Erdal, Topaloglu, Rezan, Ozen, Seza, Leavis, Helen, van Eijk, Maarten, Bezrodnik, Liliana, Blancas Galicia, Lizbeth, Hovnanian, Alain, Nassif, Aude, Bader-Meunier, Brigitte, Neven, Bénédicte, Meyts, Isabelle, Schrijvers, Rik, Puel, Anne, Bustamante, Jacinta, Aksentijevich, Ivona, Kastner, Daniel, Torres, Victor, Humblet-Baron, Stéphanie, Liston, Adrian, Abel, Laurent, Boisson, Bertrand, Casanova, Jean-Laurent
المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Génomes, biologie cellulaire et thérapeutiques (GenCellDis (U944 / UMR7212)), Collège de France (CdF (institution))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Unité Mixte de Service Production et Analyse de données en Sciences de la vie et en Santé (PASS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Plateforme Post-génomique de la Pitié-Salpêtrière (PASS-P3S), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), ANR-21-CE17-0014,KREM-AIF,KREMEN2, un nouvel inhibiteur de l'auto-inflammation médié par NF-kB impliqué dans les maladies généiques humaines(2021), ANR-14-CE15-0009,PNEUMOPID,Infections invasives à pneumocoque de l'enfant : vers l'identification de nouveaux déficits immunitaires héréditaires(2014), ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), ANR-15-CE17-0014,ProgLegio,Biomarqueurs bactériens et humains d'intérêt pronostic pour les légionelloses sévères(2015)
المصدر: ISSN: 0036-8075.
مصطلحات موضوعية: [SDV]Life Sciences [q-bio]
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12Academic Journal
المؤلفون: Spaan, Andras N., Neehus, Anna-Lena, Laplantine, Emmanuel, Staels, Frederik, Ogishi, Masato, Seeleuthner, Yoann, Rapaport, Franck, Lacey, Keenan A., Van Nieuwenhove, Erika, Chrabieh, Maya, Hum, David, Migaud, Melanie, Izmiryan, Araksya, Lorenzo, Lazaro, Kochetkov, Tatiana, Heesterbeek, Dani A. C., Bardoel, Bart W., DuMont, Ashley L., Dobbs, Kerry, Chardonnet, Solenne, Heissel, Soren, Baslan, Timour, Zhang, Peng, Yang, Rui, Bogunovic, Dusan, Wunderink, Herman F., Haas, Pieter-Jan A., Molina, Henrik, Van Buggenhout, Griet, Lyonnet, Stanislas, Notarangelo, Luigi D., Seppänen, Mikko R. J., Weil, Robert, Seminario, Gisela, Gomez-Tello, Hector, Wouters, Carine, Mesdaghi, Mehrnaz, Shahrooei, Mohammad, Bossuyt, Xavier, Sag, Erdal, Topaloglu, Rezan, Ozen, Seza, Leavis, Helen L., van Eijk, Maarten M. J., Bezrodnik, Liliana, Galicia, Lizbeth Blancas, Hovnanian, Alain, Nassif, Aude, Bader-Meunier, Brigitte, Neven, Benedicte, Meyts, Isabelle, Schrijvers, Rik, Puel, Anne, Bustamante, Jacinta, Aksentijevich, Ivona, Kastner, Daniel L., Torres, Victor J., Humblet-Baron, Stephanie, Liston, Adrian, Abel, Laurent, Boisson, Bertrand, Casanova, Jean-Laurent
المساهمون: Children's Hospital, HUS Children and Adolescents, Clinicum
مصطلحات موضوعية: PANTON-VALENTINE LEUKOCIDIN, PYOGENIC BACTERIAL-INFECTIONS, DU-CHAT-SYNDROME, HIDRADENITIS SUPPURATIVA, LINEAR UBIQUITIN, INBORN-ERRORS, AUREUS, CRI, HEMOLYSIN, PROTEIN, Biomedicine
وصف الملف: application/pdf
Relation: This work was supported by the National Center for Advancing Translational Sciences of the National Institutes of Health (NIH) (UL1TR001866 to The Rockefeller University), the Sackler Center for Biomedicine and Nutrition at the Center for Clinical and Translational Science at The Rockefeller University and the Shapiro-Silverberg Fund for the Advancement of Translational Research (to A.N.S.), NIH P01AI061093 (to J.-L.C.), the Square Foundation, the French National Research Agency (ANR-10-IAHU-01, ANR-21-CE17-0014-03, ANR 14-CE15-0009-01, and ANR-15-CE170014), the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID), the French Foundation for Medical Research (EQU201903007798), the Howard Hughes Medical Institute, the St. Giles Foundation, The Rockefeller University, Institut National de la Sante et de la Recherche Medicale (INSERM), the Paris Cite University, the Laura and Isaac Perlmutter Cancer Center and the National Institutes of Health/National Cancer Institute (P30CA016087 to NYU Langone's Rodent Genetic Engineering Laboratory), the Bettencourt Schueller Foundation and the International PhD program of the Imagine Institute (to A.-L.N.), the David Rockefeller Graduate Program (to M.O.), the New York Hideyo Noguchi Memorial Society (to M.O.), the Funai Foundation for Information Technology (to M.O.), the Honjo International Scholarship Foundation (to M.O.), the Cystic Fibrosis Foundation Postdoctoral Research Fellowship award (LACEY19FO to K.A.L.), the William C. and Joyce C. O'Neil Charitable Trust (to T.B.), the Memorial Sloan Kettering Single Cell Sequencing Initiative (to T.B.), the Hospital Research Funds at the Pediatric Research Center at the Helsinki University Hospital (to M.R.J.S.), and the Foundation for Pediatric Research of Finland (to M.R.J.S.). C.W. serves as a member of the European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (739543). The work was supported in part by the ERC Start grant IMMUNO (ERC-2010-StG_20091118 to A.L.), the VIB Grand Challenges (to A.L., S.H.-B., and R.S.), the KU Leuven BOFZAP start-up grant (to S.H.-B.), National Fund for Scientific Research senior clinical investigator fellowships (1805518N to R.S. and G0B5120N to I.M.), National Fund for Scientific Research grants (G0E8420N and G0C8517N to I.M.), a KU Leuven C1 grant (to I.M.), and the ERC Start grant MORE2ADA2 (ERC-2020-StG_ 948959 to I.M.). I.M. is a member of ERN-RITA. D.B. is supported by the NIH (R01 AI148963) and a founder of Lab11 Therapeutics Inc. The S. aureus work in the Torres laboratory is funded by the NIH (R01 AI099394, R01 AI105129, R01 AI121244, R01 AI137336, and R01 AI140754 to V.J.T.). V.J.T. is a Burroughs Wellcome Fund Investigator in the pathogenesis of infectious diseases. A.N.S. was supported in part by the European Union's Horizon 2020 Research and Innovation Program (Marie SklodowskaCurie grant 789645), the Dutch Research Council Talent Program (NWO Rubicon grant 019.171LW.015, partially nonstipendiary), and the European Molecular Biology Organization (EMBO LongTerm Fellowship grant ALTF 84-2017, nonstipendiary).; Spaan , A N , Neehus , A-L , Laplantine , E , Staels , F , Ogishi , M , Seeleuthner , Y , Rapaport , F , Lacey , K A , Van Nieuwenhove , E , Chrabieh , M , Hum , D , Migaud , M , Izmiryan , A , Lorenzo , L , Kochetkov , T , Heesterbeek , D A C , Bardoel , B W , DuMont , A L , Dobbs , K , Chardonnet , S , Heissel , S , Baslan , T , Zhang , P , Yang , R , Bogunovic , D , Wunderink , H F , Haas , P-J A , Molina , H , Van Buggenhout , G , Lyonnet , S , Notarangelo , L D , Seppänen , M R J , Weil , R , Seminario , G , Gomez-Tello , H , Wouters , C , Mesdaghi , M , Shahrooei , M , Bossuyt , X , Sag , E , Topaloglu , R , Ozen , S , Leavis , H L , van Eijk , M M J , Bezrodnik , L , Galicia , L B , Hovnanian , A , Nassif , A , Bader-Meunier , B , Neven , B , Meyts , I , Schrijvers , R , Puel , A , Bustamante , J , Aksentijevich , I , Kastner , D L , Torres , V J , Humblet-Baron , S , Liston , A , Abel , L , Boisson , B & Casanova , J-L 2022 , ' Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal alpha-toxin ' , Science , vol. 376 , no. 6599 , 6380 , pp. 1285-+ . https://doi.org/10.1126/science.abm6380; ORCID: /0000-0001-9733-3650/work/116876514; http://hdl.handle.net/10138/346550; 8ec55653-fbc3-488a-b6a2-4c977c0d31f8; 000815052900037
الاتاحة: http://hdl.handle.net/10138/346550
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13Academic Journal
المؤلفون: Staels, Frederik, De Keukeleere, Kerstin, Kinnunen, Matias, Keskitalo, Salla, Lorenzetti, Flaminia, Vanmeert, Michiel, Prezzemolo, Teresa, Pasciuto, Emanuela, Lescrinier, Eveline, Bossuyt, Xavier, Gerbaux, Margaux, Willemsen, Mathijs, Neumann, Julika, Van Loo, Sien, Corveleyn, Anniek, Willekens, Karen, Stalmans, Ingeborg, Meyts, Isabelle, Liston, Adrian, Humblet-Baron, Stephanie, Seppänen, Mikko, Varjosalo, Markku, Schrijvers, Rik
المساهمون: Molecular Systems Biology, Institute of Biotechnology, Helsinki Institute of Life Science HiLIFE, Joint Activities, University of Helsinki, Children's Hospital, HUS Children and Adolescents, Clinicum, Biosciences
مصطلحات موضوعية: primary immunodeficiency, functional validation, novel mutation, Nfkb1 (p50), haploinsufficiency, NF-KAPPA-B, NF-KAPPA-B1, HYDROXYLATION, General medicine, internal medicine and other clinical medicine
وصف الملف: application/pdf
Relation: FS (11B5520N) and JN (11C3521N) are fellows of the Fonds Wetenschappelijk Onderzoek -Vlaanderen National Fund for Scientific Research (FWO). RS is FWO senior clinical investigator fellows (1805518N, respectively) and received funding from KU Leuven C1 (C12/16/024). This work was supported by the VIB Grand Challenges Program. MVar was supported by grants from the Academy of Finland (nos. 288475 and 294173), the Sigrid Juselius Foundation, HiLIFE Fellow funding, Magnus Ehrnrooth Foundation, and the Instrumentarium Research Foundation. MS has received financial support from Helsinki University Hospital Research Funds and from the Foundation of Pediatric Research, Finland. IM is FWO senior clinical investigator, and received funding from KU Leuven C1 (C12/16/024).; Staels , F , De Keukeleere , K , Kinnunen , M , Keskitalo , S , Lorenzetti , F , Vanmeert , M , Prezzemolo , T , Pasciuto , E , Lescrinier , E , Bossuyt , X , Gerbaux , M , Willemsen , M , Neumann , J , Van Loo , S , Corveleyn , A , Willekens , K , Stalmans , I , Meyts , I , Liston , A , Humblet-Baron , S , Seppänen , M , Varjosalo , M & Schrijvers , R 2022 , ' Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations ' , Frontiers in Immunology , vol. 13 , 973543 . https://doi.org/10.3389/fimmu.2022.973543; ORCID: /0000-0002-1340-9732/work/121252980; ORCID: /0000-0001-5555-1975/work/121255265; ORCID: /0000-0001-9733-3650/work/121255392; http://hdl.handle.net/10138/350053; 57c1ea42-1c29-4197-942a-398a4265debf; 000863713400001
الاتاحة: http://hdl.handle.net/10138/350053
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14Academic Journal
المؤلفون: Neumann, Julika, Van Nieuwenhove, Erika, Terry, Lara L.E., Staels, Frederik, Knebel, Taylor T.R., Welkenhuyzen, Kirsten, Ahmadzadeh, Kourosh, Baker, Mariah M.R., Gerbaux, Margaux, Willemsen, Mathijs, Barber, John J.S., Serysheva, Irina I.I., De Waele, Liesbeth, Vermeulen, François, Schlenner, Susan, Meyts, Isabelle, Yule, David D.I., Bultynck, Geert, Schrijvers, Rik, Humblet-Baron, Stéphanie, Liston, Adrian
المصدر: Cellular & Molecular Immunology
مصطلحات موضوعية: Généralités, Calcium signalling, Whole exome sequencing, Primary immunodeficiency
وصف الملف: 1 full-text file(s): application/pdf
Relation: uri/info:doi/10.1038/s41423-022-00960-4; uri/info:pmid/36471115; uri/info:scp/85144603950; https://dipot.ulb.ac.be/dspace/bitstream/2013/372362/1/doi_356006.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/372362
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15Academic Journal
المؤلفون: Staels, Frederik, Meersseman, Wouter, Stordeur, Patrick, Willekens, Karen, Van Loo, Sien, Corveleyn, Anniek, Meyts, Isabelle, Meyfroidt, G., Schrijvers, Rik
المصدر: Case Reports in Immunology, 2022
مصطلحات موضوعية: Généralités
وصف الملف: 1 full-text file(s): application/pdf
Relation: uri/info:doi/10.1155/2022/9057000; uri/info:scp/85147402474; https://dipot.ulb.ac.be/dspace/bitstream/2013/372084/1/doi_355728.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/372084
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16Academic Journal
المؤلفون: Neumann, Julika, Van Nieuwenhove, Erika, Terry, Lara E., Staels, Frederik, Knebel, Taylor R., Welkenhuyzen, Kirsten, Ahmadzadeh, Kourosh, Baker, Mariah R., Gerbaux, Margaux, Willemsen, Mathijs, Barber, John S., Serysheva, Irina I., De Waele, Liesbeth, Vermeulen, François, Schlenner, Susan, Meyts, Isabelle, Yule, David I., Bultynck, Geert, Schrijvers, Rik, Humblet-Baron, Stephanie, Liston, Adrian
المصدر: Cellular & Molecular Immunology ; volume 20, issue 1, page 114-114 ; ISSN 2042-0226
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17Academic Journal
المؤلفون: Staels, Frederik, Lorenzetti, Flaminia, De Keukeleere, Kerstin, Willemsen, Mathijs, Gerbaux, Margaux, Neumann, Julika, Tousseyn, Thomas, Pasciuto, Emanuela, De Munter, Paul, Bossuyt, Xavier, Gijsbers, Rik, Liston, Adrian, Humblet-Baron, Stephanie, Schrijvers, Rik
المساهمون: Fonds Wetenschappelijk Onderzoek, KU Leuven
المصدر: Journal of Clinical Immunology ; volume 42, issue 8, page 1638-1652 ; ISSN 0271-9142 1573-2592
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18Academic Journal
المؤلفون: Willemsen, Mathijs, Van Nieuwenhove, Erika, Seyed Tabib, Nasim Sadat, Staels, Frederik, Schrijvers, Rik, De Somer, Lien, Liston, Adrian, Humblet-Baron, Stephanie, Wouters, Carine
المصدر: Rheumatology Advances in Practice ; volume 6, issue 1 ; ISSN 2514-1775
مصطلحات موضوعية: Rheumatology
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19Academic Journal
المؤلفون: Staels, Frederik, Betrains, Albrecht, Woei-A-Jin, Sherida, Boeckx, Nancy, Beckers, Marielle, Bervoets, An, Willemsen, Mathijs, Neerinckx, Barbara, Humblet-Baron, Stephanie, Blockmans, Daniel Engelbert, Vanderschueren, Steven, Schrijvers, Rik
المصدر: 1664-3224 ; Frontiers in immunology
مصطلحات موضوعية: Human medicine
Relation: info:eu-repo/semantics/altIdentifier/isi/000653786200001
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20Academic Journal
المؤلفون: Staels, Frederik, Collignon, Tom, Betrains, Albrecht, Gerbaux, Margaux, Willemsen, Mathijs, Humblet-Baron, Stephanie, Liston, Adrian, Vanderschueren, Steven, Schrijvers, Rik
المساهمون: Fonds Wetenschappelijk Onderzoek
المصدر: Frontiers in Immunology ; volume 12 ; ISSN 1664-3224
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