Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Nammour, Justine"'
Autor:
Lévy, Romain, Gothe, Florian, Momenilandi, Mana, Magg, Thomas, Materna, Marie, Peters, Philipp, Raedler, Johannes, Philippot, Quentin, Rack-Hoch, Anita, Langlais, David, Bourgey, Mathieu, Lanz, Anna-Lisa, Ogishi, Masato, Rosain, Jérémie, Martin, Emmanuel, Latour, Sylvain, Vladikine, Natasha, Distefano, Marco, Khan, Taushif, Rapaport, Franck, Schulz, Marian, Holzer, Ursula, Fasth, Anders, Sogkas, Georgios, Speckmann, Carsten, Troilo, Arianna, Bigley, Venetia, Roppelt, Anna, Dinur-Schejter, Yael, Toker, Ori, Bronken Martinsen, Karen, Sherkat, Roya, Somekh, Ido, Somech, Raz, Shouval, Dror, Kühl, Jörn-Sven, Ip, Winnie, Mcdermott, Elizabeth, Cliffe, Lucy, Ozen, Ahmet, Baris, Safa, Rangarajan, Hemalatha, Jouanguy, Emmanuelle, Puel, Anne, Bustamante, Jacinta, Alyanakian, Marie-Alexandra, Fusaro, Mathieu, Wang, Yi, Kong, Xiao-Fei, Cobat, Aurélie, Boutboul, David, Castelle, Martin, Aguilar, Claire, Hermine, Olivier, Cheminant, Morgane, Suarez, Felipe, Yildiran, Alisan, Bousfiha, Aziz, Al-Mousa, Hamoud, Alsohime, Fahad, Cagdas, Deniz, Abraham, Roshini, Knutsen, Alan, Fevang, Borre, Bhattad, Sagar, Kiykim, Ayca, Erman, Baran, Arikoglu, Tugba, Unal, Ekrem, Kumar, Ashish, Geier, Christoph, Baumann, Ulrich, Neven, Bénédicte, Calas, Julie, Feuille, Elizabeth, Chan, Angela, Yesil, Gozde, Nammour, Justine, Bandet, Élise, Picard, Capucine, Benhsaien, Ibtihal, Lang, Peter, Atschekzei, Faranaz, Warnatz, Klaus, Hambleton, Sophie, Desai, Mukesh, Karakoc-Aydiner, Elif, Kolukisa, Burcu, Al-Muhsen, Saleh, Alosaimi, Mohammed, Cipe, Funda, Alazami, Anas, Hancioglu, Gonca, Can Meydan, Bilge, Sorte, Hanne, Stray-Pedersen, Asbjørg, Mammayil, Geetha, Tökmeci, Nazan, Shcherbina, Anna, Stepensky, Polina, Nasereddin, Adeeb, Rouzaud, Claire, Hoshino, Akihiro, Shamriz, Oded, Ledder, Oren, Maccari, Maria, Castro, Carla, Grimbacher, Bodo, Schmidt, Reinhold, Collin, Matthew, Zakharova, Victorya, Rohlfs, Meino, Walz, Christoph, Abel, Laurent, Malissen, Bernard, Marr, Nico, Klein, Christoph, Casanova, Jean-Laurent, Hauck, Fabian, Béziat, Vivien
Publikováno v:
Journal of Experimental Medicine
Journal of Experimental Medicine, 2022, 220, ⟨10.1084/jem.20220275⟩
Journal of Experimental Medicine, 2022, 220, ⟨10.1084/jem.20220275⟩
International audience; Patients with inherited CARMIL2 or CD28 deficiency have defective T cell CD28 signaling, but their immunological and clinical phenotypes remain largely unknown. We show that only one of three CARMIL2 isoforms is produced and f
Akademický článek
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Autor:
Béziat, Vivien, Tavernier, Simon, Chen, Yin-Huai, Ma, Cindy S., Materna, Marie, Laurence, Arian, Staal, Jens, Aschenbrenner, Dominik, Roels, Lisa, Worley, Lisa, Claes, Kathleen, Gartner, Lisa, Kohn, Lisa A., De Bruyne, Marieke, Schmitz-Abe, Klaus, Charbonnier, Louis-Marie, Keles, Sevgi, Nammour, Justine, Vladikine, Natasha, Maglorius Renkilaraj, Majistor Raj Luxman, Seeleuthner, Yoann, Migaud, Mélanie, Rosain, Jérémie, Jeljeli, Mohamed, Boisson, Bertrand, Van Braeckel, Eva, Rosenfeld, Jill A., Dai, Hongzheng, Burrage, Lindsay C., Murdock, David R., Lambrecht, Bart, Avettand-Fenoel, Véronique, Vogel, Tiphanie P., Esther, Charles R., Haskologlu, Sule, Dogu, Figen, Ciznar, Peter, Boutboul, David, Ouachée-Chardin, Marie, Amourette, Jean, Lebras, Marie-Noëlle, Gauvain, Clément, Tcherakian, Colas, Ikinciogullari, Aydan, Beyaert, Rudi, Abel, Laurent, Milner, Joshua D., Grimbacher, Bodo, Couderc, Louis-Jean, Butte, Manish J., Freeman, Alexandra F., Catherinot, Émilie, Fieschi, Claire, Chatila, Talal A., Tangye, Stuart G., Uhlig, Holm H., Haerynck, Filomeen, Casanova, Jean-Laurent, Puel, Anne, Undiagnosed Diseases Network, [missing]
Publikováno v:
The Journal of experimental medicine, vol 217, iss 6
JOURNAL OF EXPERIMENTAL MEDICINE
JOURNAL OF EXPERIMENTAL MEDICINE
Autosomal dominant hyper-IgE syndrome (AD-HIES) is typically caused by dominant-negative (DN) STAT3 mutations. Patients suffer from cold staphylococcal lesions and mucocutaneous candidiasis, severe allergy, and skeletal abnormalities. We report 12 pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2841cdc363e7544b7ac7d2b6e5c9105
Autor:
Béziat, Vivien, Tavernier, Simon J, Chen, Yin-Huai, Ma, Cindy S, Materna, Marie, Laurence, Arian, Staal, Jens, Aschenbrenner, Dominik, Roels, Lisa, Worley, Lisa, Claes, Kathleen, Gartner, Lisa, Kohn, Lisa A, De Bruyne, Marieke, Schmitz-Abe, Klaus, Charbonnier, Louis-Marie, Keles, Sevgi, Nammour, Justine, Vladikine, Natasha, Luxman Maglorius Renkilaraj, Majistor Raj, Seeleuthner, Yoann, Migaud, Mélanie, Rosain, Jérémie, Jeljeli, Mohamed, Boisson, Bertrand, Van Braeckel, Eva, Rosenfeld, Jill A, Dai, Hongzheng, Burrage, Lindsay C, Murdock, David R, Lambrecht, Bart N, Avettand-Fenoel, Véronique, Vogel, Tiphanie P, Network, Undiagnosed Diseases, Esther, Charles R, Haskologlu, Sule, Dogu, Figen, Ciznar, Peter, Boutboul, David, Ouachée-Chardin, Marie, Amourette, Jean, Lebras, Marie-Noëlle, Gauvain, Clément, Tcherakian, Colas, Ikinciogullari, Aydan, Beyaert, Rudi, Abel, Laurent, Milner, Joshua D, Grimbacher, Bodo, Couderc, Louis-Jean, Butte, Manish J, Freeman, Alexandra F, Catherinot, Émilie, Fieschi, Claire, Chatila, Talal A, Tangye, Stuart G, Uhlig, Holm H, Haerynck, Filomeen, Casanova, Jean-Laurent, Puel, Anne
Publikováno v:
The Journal of Experimental Medicine; June 2020, Vol. 217 Issue: 7 pe20191-e20-e20191-e20, 201998930p
Autor:
Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.; University of Paris, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Tavernier SJ; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium.; VIB-UGent Center for Inflammation Research, Unit of Molecular Signal Transduction in Inflammation, Ghent, Belgium., Chen YH; Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Department of Paediatrics, University of Oxford, Oxford, UK., Ma CS; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales, Australia.; St. Vincent's Clinical School, UNSW Sydney, Sydney, New South Wales, Australia., Materna M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.; University of Paris, Imagine Institute, Paris, France., Laurence A; Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Department of Paediatrics, University of Oxford, Oxford, UK., Staal J; VIB-UGent Center for Inflammation Research, Unit of Molecular Signal Transduction in Inflammation, Ghent, Belgium., Aschenbrenner D; Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Department of Paediatrics, University of Oxford, Oxford, UK., Roels L; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium., Worley L; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales, Australia.; St. Vincent's Clinical School, UNSW Sydney, Sydney, New South Wales, Australia., Claes K; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Gartner L; Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Department of Paediatrics, University of Oxford, Oxford, UK., Kohn LA; Division of Immunology, Allergy, and Rheumatology, Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA., De Bruyne M; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Schmitz-Abe K; Division of Newborn Medicine and Neonatal Genomics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA., Charbonnier LM; Department of Pediatrics, Harvard Medical School, Boston, MA.; Division of Immunology, Boston Children's Hospital, Boston, MA., Keles S; Necmettin Erbakan University, Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Konya, Turkey., Nammour J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.; University of Paris, Imagine Institute, Paris, France., Vladikine N; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.; University of Paris, Imagine Institute, Paris, France., Maglorius Renkilaraj MRL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.; University of Paris, Imagine Institute, Paris, France., Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.; University of Paris, Imagine Institute, Paris, France., Migaud M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.; University of Paris, Imagine Institute, Paris, France., Rosain J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.; University of Paris, Imagine Institute, Paris, France., Jeljeli M; Cochin University Hospital, Biological Immunology Unit, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France., Boisson B; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.; University of Paris, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Van Braeckel E; Department of Respiratory Medicine, Ghent University Hospital, Ghent Belgium., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Lambrecht BN; VIB-UGent Center for Inflammation Research, Unit of Immunoregulation and Mucosal Immunology, Ghent, Belgium.; Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium., Avettand-Fenoel V; Laboratory of Clinical Microbiology, Virology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France., Vogel TP; Division of Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX., Esther CR; Pediatric Pulmonology, University of North Carolina at Chapel Hill, Chapel Hill, NC., Haskologlu S; Division of Pediatric Immunology and Allergy, Ankara University School of Medicine, Sıhhıye, Ankara, Turkey., Dogu F; Division of Pediatric Immunology and Allergy, Ankara University School of Medicine, Sıhhıye, Ankara, Turkey., Ciznar P; Department of Pediatrics, Faculty of Medicine Comenius University and Children's University Hospital, Bratislava, Slovakia., Boutboul D; Clinical Immunology Department, Saint Louis Hospital, AP-HP de Paris University of Paris, Paris, France., Ouachée-Chardin M; Department of Pediatric Hematology and Immunology, Robert Debré Hospital, AP-HP, Paris, France., Amourette J; Pulmonology Department, Centre Hospitalier d'Arras, Arras, France., Lebras MN; Pediatric Pulmonology, Infectious Disease and Internal Medicine Department, AP-HP, Robert Debré Hospital, Paris, France., Gauvain C; Thoracic Oncology Department, Lille University Hospital, Lille, France., Tcherakian C; Hôpital Foch, Pulmonology Department, Suresnes, France., Ikinciogullari A; Division of Pediatric Immunology and Allergy, Ankara University School of Medicine, Sıhhıye, Ankara, Turkey., Beyaert R; VIB-UGent Center for Inflammation Research, Unit of Molecular Signal Transduction in Inflammation, Ghent, Belgium., Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.; University of Paris, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Milner JD; National Institute of Allergy and Infectious Diseases, Bethesda, MD.; Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY., Grimbacher B; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert Ludwig University of Freiburg, Freiburg, Germany.; German Center for Infection Research, Satellite Center Freiburg, Freiburg, Germany.; Centre for Integrative Biological Signaling Studies, Albert Ludwig University, Freiburg, Germany.; RESIST, Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany.; Institute of Immunity and Transplantation, Royal Free Hospital, University College London, London, UK., Couderc LJ; Hôpital Foch, Pulmonology Department, Suresnes, France.; Simone Veil Faculty of Life Sciences, Versailles-Paris Saclay University, UPRES EA-220, Suresnes, France., Butte MJ; Division of Immunology, Allergy, and Rheumatology, Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA., Freeman AF; National Institute of Allergy and Infectious Diseases, Bethesda, MD., Catherinot É; Hôpital Foch, Pulmonology Department, Suresnes, France., Fieschi C; Clinical Immunology Department, Saint Louis Hospital, AP-HP de Paris University of Paris, Paris, France.; INSERM UMR1126, Institut de Recherche Saint-Louis, Université de Paris, Paris, France., Chatila TA; Department of Pediatrics, Harvard Medical School, Boston, MA.; Division of Immunology, Boston Children's Hospital, Boston, MA., Tangye SG; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales, Australia.; St. Vincent's Clinical School, UNSW Sydney, Sydney, New South Wales, Australia., Uhlig HH; Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Department of Paediatrics, University of Oxford, Oxford, UK., Haerynck F; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium.; Department of Internal Medicine and Pediatrics, Division of Pediatric Immunology and Pulmonology, Ghent University Hospital, Ghent, Belgium., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.; University of Paris, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.; Howard Hughes Medical Institute, New York, NY., Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.; University of Paris, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
Publikováno v:
The Journal of experimental medicine [J Exp Med] 2020 Jun 01; Vol. 217 (6).