Search Results - "Alain, Fischer"

Gene therapy for severe combined immunodeficiencies and beyond by Fischer, Alain, Hacein-Bey-Abina, Salima

“…Ex vivo retrovirally mediated gene therapy has been shown within the last 20 yr to correct the T cell immunodeficiency caused by γc-deficiency (SCID X1) and…”
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Impaired type I interferon activity and inflammatory responses in severe COVID-19 patients by Hadjadj, Jérôme, Yatim, Nader, Barnabei, Laura, Corneau, Aurélien, Boussier, Jeremy, Smith, Nikaïa, Péré, Hélène, Charbit, Bruno, Bondet, Vincent, Chenevier-Gobeaux, Camille, Breillat, Paul, Carlier, Nicolas, Gauzit, Rémy, Morbieu, Caroline, Pène, Frédéric, Marin, Nathalie, Roche, Nicolas, Szwebel, Tali-Anne, Merkling, Sarah H, Treluyer, Jean-Marc, Veyer, David, Mouthon, Luc, Blanc, Catherine, Tharaux, Pierre-Louis, Rozenberg, Flore, Fischer, Alain, Duffy, Darragh, Rieux-Laucat, Frédéric, Kernéis, Solen, Terrier, Benjamin

“…Coronavirus disease 2019 (COVID-19) is characterized by distinct patterns of disease progression that suggest diverse host immune responses. We performed an…”
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Contribution of high‐throughput DNA sequencing to the study of primary immunodeficiencies by Picard, Capucine, Fischer, Alain

“…Primary immunodeficiencies (PIDs) are inborn errors of the immune system. PIDs have been characterized immunologically for the last 60 years and genetically,…”
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Therapeutic effect of JAK1/2 blockade on the manifestations of hemophagocytic lymphohistiocytosis in mice by Maschalidi, Sophia, Sepulveda, Fernando E., Garrigue, Alexandrine, Fischer, Alain, de Saint Basile, Geneviève

“…Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome, characterized by severe hyperinflammation and immunopathological manifestations in…”
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Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages by Emile, Jean-François, Abla, Oussama, Fraitag, Sylvie, Horne, Annacarin, Haroche, Julien, Donadieu, Jean, Requena-Caballero, Luis, Jordan, Michael B., Abdel-Wahab, Omar, Allen, Carl E., Charlotte, Frédéric, Diamond, Eli L., Egeler, R.Maarten, Fischer, Alain, Herrera, Juana Gil, Henter, Jan-Inge, Janku, Filip, Merad, Miriam, Picarsic, Jennifer, Rodriguez-Galindo, Carlos, Rollins, Barret J., Tazi, Abdellatif, Vassallo, Robert, Weiss, Lawrence M.

“…The histiocytoses are rare disorders characterized by the accumulation of macrophage, dendritic cell, or monocyte-derived cells in various tissues and organs…”
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Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies by Suarez, Felipe, Mahlaoui, Nizar, Canioni, Danielle, Andriamanga, Chantal, Dubois d'Enghien, Catherine, Brousse, Nicole, Jais, Jean-Philippe, Fischer, Alain, Hermine, Olivier, Stoppa-Lyonnet, Dominique

“…Biallelic mutations in ATM cause ataxia-telangiectasia (AT), a rare inherited disease with a high incidence of cancer. Precise estimates of the risk,…”
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Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules by de Saint Basile, Geneviève, Ménasché, Gaël, Fischer, Alain

“…Key Points Cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells are armed to kill virus-infected or transformed cells through the polarized secretion…”
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Evidence of innate lymphoid cell redundancy in humans by Vély, Frédéric, Barlogis, Vincent, Vallentin, Blandine, Neven, Bénédicte, Piperoglou, Christelle, Ebbo, Mikael, Perchet, Thibaut, Petit, Maxime, Yessaad, Nadia, Touzot, Fabien, Bruneau, Julie, Mahlaoui, Nizar, Zucchini, Nicolas, Farnarier, Catherine, Michel, Gérard, Moshous, Despina, Blanche, Stéphane, Dujardin, Arnaud, Spits, Hergen, Distler, Jörg H W, Ramming, Andreas, Picard, Capucine, Golub, Rachel, Fischer, Alain, Vivier, Eric

“…The importance of human innate lymphoid cells to normal human physiology is unclear. Vivier and colleagues find that immunodeficient patients ‘rescued’ with…”
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Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: Entering a new century, do we do better? by Gennery, Andrew R., MD, Slatter, Mary A., MD, Grandin, Laure, MSc, Taupin, Pierre, MD, Cant, Andrew J., FRCP, Veys, Paul, FRCP, Amrolia, Persis J., FRCP, Gaspar, H. Bobby, PhD, Davies, E. Graham, FRCPCH, Friedrich, Wilhelm, PhD, Hoenig, Manfred, MD, Notarangelo, Luigi D., MD, Mazzolari, Evelina, MD, Porta, Fulvio, MD, Bredius, Robbert G.M., PhD, Lankester, Arjen C., PhD, Wulffraat, Nico M., PhD, Seger, Reinhard, MD, Güngör, Tayfun, MD, Fasth, Anders, PhD, Sedlacek, Petr, PhD, Neven, Benedicte, MD, Blanche, Stephane, MD, Fischer, Alain, PhD, Cavazzana-Calvo, Marina, PhD, Landais, Paul, PhD

“…Background Hematopoietic stem cell transplantation remains the only treatment for most patients with severe combined immunodeficiencies (SCIDs) or other…”
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Characterization of Crohn disease in X-linked inhibitor of apoptosis–deficient male patients and female symptomatic carriers by Aguilar, Claire, MD, Lenoir, Christelle, MS, Lambert, Nathalie, AS, Bègue, Bernadette, MS, Brousse, Nicole, MD, Canioni, Danielle, MD, Berrebi, Dominique, MD, PhD, Roy, Maryline, MS, Gérart, Stéphane, ME, PhD, Chapel, Helen, MA, MD, Schwerd, Tobias, MD, Siproudhis, Laurent, MD, PhD, Schäppi, Michela, MD, PhD, Al-Ahmari, Ali, MD, Mori, Masaaki, MD, PhD, Yamaide, Akiko, MD, Galicier, Lionel, MD, Neven, Bénédicte, MD, PhD, Routes, John, MD, Uhlig, Holm H., MD, PhD, Koletzko, Sibylle, MD, Patel, Smita, MD, PhD, Kanegane, Hirokazu, MD, PhD, Picard, Capucine, MD, PhD, Fischer, Alain, MD, PhD, Bensussan, Nadine Cerf, MD, PhD, Ruemmele, Frank, MD, PhD, Hugot, Jean-Pierre, MD, PhD, Latour, Sylvain, PhD

“…Background Crohn disease is an inflammatory bowel disease (IBD) with a complex mode of inheritance. Although nucleotide binding and oligomerization domain…”
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Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection by Izawa, Kazushi, Martin, Emmanuel, Soudais, Claire, Bruneau, Julie, Boutboul, David, Rodriguez, Rémy, Lenoir, Christelle, Hislop, Andrew D, Besson, Caroline, Touzot, Fabien, Picard, Capucine, Callebaut, Isabelle, de Villartay, Jean-Pierre, Moshous, Despina, Fischer, Alain, Latour, Sylvain

“…Epstein-Barr virus (EBV) infection in humans is a major trigger of malignant and nonmalignant B cell proliferations. CD27 is a co-stimulatory molecule of T…”
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Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study by Elkaim, Elodie, MD, Neven, Benedicte, MD, PhD, Bruneau, Julie, MD, PhD, Mitsui-Sekinaka, Kanako, MD, Stanislas, Aurelie, MSc, Heurtier, Lucie, MSc, Lucas, Carrie L., PhD, Matthews, Helen, BSc, Deau, Marie-Céline, MSc, Sharapova, Svetlana, PhD, Curtis, James, BSc, Reichenbach, Janine, MD, Glastre, Catherine, MD, Parry, David A., PhD, Arumugakani, Gururaj, FRCPath, PhD, McDermott, Elizabeth, MD, Kilic, Sara Sebnem, MD, Yamashita, Motoi, MD, Moshous, Despina, MD, PhD, Lamrini, Hicham, MSc, Otremba, Burkhard, MD, Gennery, Andrew, MD, Coulter, Tanya, MRCPI, Quinti, Isabella, MD, Stephan, Jean-Louis, MD, Lougaris, Vassilios, MD, Brodszki, Nicholas, MD, Barlogis, Vincent, MD, Asano, Takaki, MD, Galicier, Lionel, MD, Boutboul, David, MD, PhD, Nonoyama, Shigeaki, MD, PhD, Cant, Andrew, MD, PhD, Imai, Kohsuke, MD, Picard, Capucine, MD, PhD, Nejentsev, Sergey, PhD, Molina, Thierry Jo, MD, PhD, Lenardo, Michael, MD, Savic, Sinisa, FRCPath, PhD, Cavazzana, Marina, MD, PhD, Fischer, Alain, MD, PhD, Durandy, Anne, MD, PhD, Kracker, Sven, PhD

“…Background Activated phosphoinositide 3-kinase δ syndrome (APDS) 2 (p110δ-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency…”
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Efficacy of Gene Therapy for X-Linked Severe Combined Immunodeficiency by Hacein-Bey-Abina, Salima, Hauer, Julia, Lim, Annick, Picard, Capucine, Wang, Gary P, Berry, Charles C, Martinache, Chantal, Rieux-Laucat, Frédéric, Latour, Sylvain, Belohradsky, Bernd H, Leiva, Lily, Sorensen, Ricardo, Debré, Marianne, Casanova, Jean Laurent, Blanche, Stephane, Durandy, Anne, Bushman, Frederic D, Fischer, Alain, Cavazzana-Calvo, Marina

“…In a long-term (up to 11 years) follow-up of nine patients with X-linked severe combined immunodeficiency treated with retroviral insertion of a normal common…”
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Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173 -activating mutations in 3 children by Frémond, Marie-Louise, MD, Rodero, Mathieu Paul, PhD, Jeremiah, Nadia, PhD, Belot, Alexandre, MD, PhD, Jeziorski, Eric, MD, Duffy, Darragh, PhD, Bessis, Didier, MD, Cros, Guilhem, MD, Rice, Gillian I., PhD, Charbit, Bruno, MSc, Hulin, Anne, PharmD, PhD, Khoudour, Nihel, MD, Caballero, Consuelo Modesto, MD, Bodemer, Christine, MD, PhD, Fabre, Monique, MD, Berteloot, Laureline, MD, Le Bourgeois, Muriel, MD, Reix, Philippe, MD, Walzer, Thierry, PhD, Moshous, Despina, MD, PhD, Blanche, Stéphane, MD, PhD, Fischer, Alain, MD, PhD, Bader-Meunier, Brigitte, MD, Rieux-Laucat, Fréderic, PhD, Crow, Yanick Joseph, MD, PhD, Neven, Bénédicte, MD, PhD

“…The patients, aged between 5 and 12 years, exhibited the phenotypic variability associated with TMEM173-activating mutations,2-4 with lung disease and systemic…”
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Rapid identification and characterization of infected cells in blood during chronic active Epstein-Barr virus infection by Fournier, Benjamin, Boutboul, David, Bruneau, Julie, Miot, Charline, Boulanger, Cécile, Malphettes, Marion, Pellier, Isabelle, Dunogué, Bertrand, Terrier, Benjamin, Suarez, Felipe, Blanche, Stéphane, Castelle, Martin, Winter, Sarah, Delecluse, Henri-Jacques, Molina, Thierry, Picard, Capucine, Ehl, Stephan, Moshous, Despina, Galicier, Lionel, Barlogis, Vincent, Fischer, Alain, Neven, Bénédicte, Latour, Sylvain

“…Epstein-Barr virus (EBV) preferentially infects epithelial cells and B lymphocytes and sometimes T and NK lymphocytes. Persistence of EBV-infected cells…”
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ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia by McCarl, Christie-Ann, BS, Picard, Capucine, MD, PhD, Khalil, Sara, BS, Kawasaki, Takumi, PhD, Röther, Jens, Papolos, Alexander, BS, Kutok, Jeffery, MD, Hivroz, Claire, PhD, LeDeist, Francoise, MD, PhD, Plogmann, Katrin, DMD, Ehl, Stephan, MD, Notheis, Gundula, MD, Albert, Michael H., MD, Belohradsky, Bernd H., MD, Kirschner, Janbernd, MD, Rao, Anjana, PhD, Fischer, Alain, MD, Feske, Stefan, MD

“…Background Defects in the development or activation of T cells result in immunodeficiency associated with severe infections early in life. T-cell activation…”
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Loss of RASGRP1 in humans impairs T‐cell expansion leading to Epstein‐Barr virus susceptibility by Winter, Sarah, Martin, Emmanuel, Boutboul, David, Lenoir, Christelle, Boudjemaa, Sabah, Petit, Arnaud, Picard, Capucine, Fischer, Alain, Leverger, Guy, Latour, Sylvain

“…Inherited CTPS1, CD27, and CD70 deficiencies in humans have revealed key factors of T‐lymphocyte expansion, a critical prerequisite for an efficient immunity…”
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An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation by Le Guen, Tangui, PhD, Touzot, Fabien, MD, PhD, André-Schmutz, Isabelle, PhD, Lagresle-Peyrou, Chantal, PhD, France, Benoit, MSc, Kermasson, Laetitia, Lambert, Nathalie, Picard, Capucine, MD, PhD, Nitschke, Patrick, PhD, Carpentier, Wassila, PhD, Bole-Feysot, Christine, PhD, Lim, Annick, PhD, Cavazzana, Marina, MD, PhD, Callebaut, Isabelle, PhD, Soulier, Jean, MD, PhD, Jabado, Nada, MD, PhD, Fischer, Alain, MD, PhD, de Villartay, Jean-Pierre, PhD, Revy, Patrick, PhD

“…Background Myb-Like, SWIRM, and MPN domains 1 (MYSM1) is a metalloprotease that deubiquitinates the K119-monoubiquitinated form of histone 2A (H2A), a…”
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Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee by Geha, Raif S., MD (Cochair), Notarangelo, Luigi D., MD (Cochair), Casanova, Jean-Laurent, MD, Chapel, Helen, MD, Conley, Mary Ellen, MD, Fischer, Alain, MD, Hammarström, Lennart, MD, Nonoyama, Shigeaki, MD, Ochs, Hans D., MD, Puck, Jennifer M., MD, Roifman, Chaim, MD, Seger, Reinhard, MD, Wedgwood, Josiah, MD

“…Primary immunodeficiency diseases (PIDs) are a genetically heterogeneous group of disorders that affect distinct components of the innate and adaptive immune…”
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A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency by Schaballie, Heidi, MD, Rodriguez, Rémy, MS, Martin, Emmanuel, PhD, Moens, Leen, PhD, Frans, Glynis, MPharm, Lenoir, Christelle, MS, Dutré, Joris, MD, Canioni, Danielle, MD, PhD, Bossuyt, Xavier, MD, PhD, Fischer, Alain, MD, PhD, Latour, Sylvain, PhD, Meyts, Isabelle, MD, PhD, Picard, Capucine, MD, PhD

“…[...]neither patient displayed autoimmune cytopenia. Because no infectious cause of colitis could be demonstrated in patient 7, both manifestations might be…”
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