Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis
Belkaya, Serkan, PhD, Kontorovich, Amy R., MD, PhD, Byun, Minji, PhD, Mulero-Navarro, Sonia, PhD, Bajolle, Fanny, MD, PhD, Cobat, Aurelie, MD, PhD, Josowitz, Rebecca, MD, PhD, Itan, Yuval, PhD, Quint, Raphaelle, MSc, Lorenzo, Lazaro, MSc, Boucherit, Soraya, MD, Stoven, Cecile, MD, Di Filippo, Sylvie, MD, PhD, Abel, Laurent, MD, PhD, Zhang, Shen-Ying, MD, PhD, Bonnet, Damien, MD, PhD, Gelb, Bruce D., MD, Casanova, Jean-Laurent, MD, PhD
Published in Journal of the American College of Cardiology (04.04.2017)
Published in Journal of the American College of Cardiology (04.04.2017)
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Inherited IL-18BP deficiency in human fulminant viral hepatitis
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Published in The Journal of experimental medicine (05.08.2019)
Published in The Journal of experimental medicine (05.08.2019)
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Age-Dependent Mendelian Predisposition to Herpes Simplex Virus Type 1 Encephalitis in Childhood
Abel, Laurent, MD, PhD, Plancoulaine, Sabine, MD, PhD, Jouanguy, Emmanuelle, PhD, Zhang, Shen-Ying, MD, PhD, Mahfoufi, Nora, MD, Nicolas, Nathalie, MD, Sancho-Shimizu, Vanessa, PhD, Alcaïs, Alexandre, MD, PhD, Guo, Yiqi, MSc, Cardon, Annabelle, BSc, Boucherit, Soraya, MD, Obach, Dorothée, MSc, Clozel, Thomas, MD, Lorenzo, Lazaro, PhD, Amsallem, Daniel, MD, Berquin, Patrick, MD, Blanc, Thierry, MD, Bost-Bru, Cécile, MD, Chabrier, Stéphane, MD, Chabrol, Brigitte, MD, Cheuret, Emmanuel, MD, Dulac, Olivier, MD, Evrard, Philippe, MD, Héron, Bénédicte, MD, Lazaro, Leila, MD, Mancini, Josette, MD, Pedespan, Jean-Michel, MD, Rivier, François, MD, Vallée, Louis, MD, Lebon, Pierre, MD, PhD, Rozenberg, Flore, MD, PhD, Casanova, Jean-Laurent, MD, PhD, Tardieu, Marc, MD, PhD
Published in The Journal of pediatrics (01.10.2010)
Published in The Journal of pediatrics (01.10.2010)
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Severe influenza pneumonitis in children with inherited TLR3 deficiency
Lim, Hye Kyung, Huang, Sarah X L, Chen, Jie, Kerner, Gaspard, Gilliaux, Olivier, Bastard, Paul, Dobbs, Kerry, Hernandez, Nicholas, Goudin, Nicolas, Hasek, Mary L, García Reino, Eduardo Javier, Lafaille, Fabien G, Lorenzo, Lazaro, Luthra, Priya, Kochetkov, Tatiana, Bigio, Benedetta, Boucherit, Soraya, Rozenberg, Flore, Vedrinne, Catherine, Keller, Michael D, Itan, Yuval, García-Sastre, Adolfo, Celard, Marie, Orange, Jordan S, Ciancanelli, Michael J, Meyts, Isabelle, Zhang, Qian, Abel, Laurent, Notarangelo, Luigi D, Snoeck, Hans-Willem, Casanova, Jean-Laurent, Zhang, Shen-Ying
Published in The Journal of experimental medicine (02.09.2019)
Published in The Journal of experimental medicine (02.09.2019)
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Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency
Bastard, Paul, Manry, Jeremy, Chen, Jie, Rosain, Jérémie, Seeleuthner, Yoann, AbuZaitun, Omar, Lorenzo, Lazaro, Khan, Taushif, Hasek, Mary, Hernandez, Nicholas, Bigio, Benedetta, Zhang, Peng, Lévy, Romain, Shrot, Shai, Reino, Eduardo J Garcia, Lee, Yoon-Seung, Boucherit, Soraya, Aubart, Mélodie, Gijsbers, Rik, Béziat, Vivien, Li, Zhi, Pellegrini, Sandra, Rozenberg, Flore, Marr, Nico, Meyts, Isabelle, Boisson, Bertrand, Cobat, Aurélie, Bustamante, Jacinta, Zhang, Qian, Jouangy, Emmanuelle, Abel, Laurent, Somech, Raz, Casanova, Jean-Laurent, Zhang, Shen-Ying
Published in The Journal of clinical investigation (04.01.2021)
Published in The Journal of clinical investigation (04.01.2021)
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Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis
Lafaille, Fabien G, Harschnitz, Oliver, Lee, Yoon Seung, Zhang, Peng, Hasek, Mary L, Kerner, Gaspard, Itan, Yuval, Ewaleifoh, Osefame, Rapaport, Franck, Carlile, Thomas M, Carter-Timofte, Madalina E, Paquet, Dominik, Dobbs, Kerry, Zimmer, Bastian, Gao, Daxing, Rojas-Duran, Maria F, Kwart, Dylan, Rattina, Vimel, Ciancanelli, Michael J, McAlpine, Jessica L, Lorenzo, Lazaro, Boucherit, Soraya, Rozenberg, Flore, Halwani, Rabih, Henry, Benoit, Amenzoui, Naima, Alsum, Zobaida, Marques, Laura, Church, Joseph A, Al-Muhsen, Saleh, Tardieu, Marc, Bousfiha, Ahmed Aziz, Paludan, Søren R, Mogensen, Trine Hyrup, Quintana-Murci, Lluis, Tessier-Lavigne, Marc, Smith, Gregory A, Notarangelo, Luigi D, Studer, Lorenz, Gilbert, Wendy, Abel, Laurent, Casanova, Jean-Laurent, Zhang, Shen-Ying
Published in Nature Medicine (01.12.2019)
Published in Nature Medicine (01.12.2019)
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Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency
Cottineau, Julien, Kottemann, Molly C, Lach, Francis P, Kang, Young-Hoon, Vély, Frédéric, Deenick, Elissa K, Lazarov, Tomi, Gineau, Laure, Wang, Yi, Farina, Andrea, Chansel, Marie, Lorenzo, Lazaro, Piperoglou, Christelle, Ma, Cindy S, Nitschke, Patrick, Belkadi, Aziz, Itan, Yuval, Boisson, Bertrand, Jabot-Hanin, Fabienne, Picard, Capucine, Bustamante, Jacinta, Eidenschenk, Céline, Boucherit, Soraya, Aladjidi, Nathalie, Lacombe, Didier, Barat, Pascal, Qasim, Waseem, Hurst, Jane A, Pollard, Andrew J, Uhlig, Holm H, Fieschi, Claire, Michon, Jean, Bermudez, Vladimir P, Abel, Laurent, de Villartay, Jean-Pierre, Geissmann, Frédéric, Tangye, Stuart G, Hurwitz, Jerard, Vivier, Eric, Casanova, Jean-Laurent, Smogorzewska, Agata, Jouanguy, Emmanuelle
Published in The Journal of clinical investigation (01.05.2017)
Published in The Journal of clinical investigation (01.05.2017)
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TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk
Lim, Hye Kyung, Seppänen, Mikko, Hautala, Timo, Ciancanelli, Michael J, Itan, Yuval, Lafaille, Fabien G, Dell, William, Lorenzo, Lazaro, Byun, Minji, Pauwels, Elodie, Rönnelid, Ylva, Cai, Xin, Boucherit, Soraya, Jouanguy, Emmanuelle, Paetau, Anders, Lebon, Pierre, Rozenberg, Flore, Tardieu, Marc, Abel, Laurent, Yildiran, Alisan, Vergison, Anne, Roivainen, Reina, Etzioni, Amos, Tienari, Pentti J, Casanova, Jean-Laurent, Zhang, Shen-Ying
Published in Neurology (18.11.2014)
Published in Neurology (18.11.2014)
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Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency
Sancho-Shimizu, Vanessa, Pérez de Diego, Rebeca, Lorenzo, Lazaro, Halwani, Rabih, Alangari, Abdullah, Israelsson, Elisabeth, Fabrega, Sylvie, Cardon, Annabelle, Maluenda, Jerome, Tatematsu, Megumi, Mahvelati, Farhad, Herman, Melina, Ciancanelli, Michael, Guo, Yiqi, AlSum, Zobaida, Alkhamis, Nouf, Al-Makadma, Abdulkarim S, Ghadiri, Ata, Boucherit, Soraya, Plancoulaine, Sabine, Picard, Capucine, Rozenberg, Flore, Tardieu, Marc, Lebon, Pierre, Jouanguy, Emmanuelle, Rezaei, Nima, Seya, Tsukasa, Matsumoto, Misako, Chaussabel, Damien, Puel, Anne, Zhang, Shen-Ying, Abel, Laurent, Al-Muhsen, Saleh, Casanova, Jean-Laurent
Published in The Journal of clinical investigation (01.12.2011)
Published in The Journal of clinical investigation (01.12.2011)
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Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis
Chen, Jie, Jing, Huie, Martin-Nalda, Andrea, Bastard, Paul, Rivière, Jacques G, Liu, Zhiyong, Colobran, Roger, Lee, Danyel, Tung, Wesley, Manry, Jeremy, Hasek, Mary, Boucherit, Soraya, Lorenzo, Lazaro, Rozenberg, Flore, Aubart, Mélodie, Abel, Laurent, Su, Helen C, Soler Palacin, Pere, Casanova, Jean-Laurent, Zhang, Shen-Ying
Published in The Journal of experimental medicine (06.12.2021)
Published in The Journal of experimental medicine (06.12.2021)
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A computational approach for detecting physiological homogeneity in the midst of genetic heterogeneity
Zhang, Peng, Cobat, Aurélie, Lee, Yoon-Seung, Wu, Yiming, Bayrak, Cigdem Sevim, Boccon-Gibod, Clémentine, Matuozzo, Daniela, Lorenzo, Lazaro, Jain, Aayushee, Boucherit, Soraya, Vallée, Louis, Stüve, Burkhard, Chabrier, Stéphane, Casanova, Jean-Laurent, Abel, Laurent, Zhang, Shen-Ying, Itan, Yuval
Published in American journal of human genetics (03.06.2021)
Published in American journal of human genetics (03.06.2021)
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Human TMEFF1 is a restriction factor for herpes simplex virus in the brain
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, Zhang, Shen-Ying
Published in Nature (London) (08.08.2024)
Published in Nature (London) (08.08.2024)
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IRF4 haploinsufficiency in a family with Whipple's disease
Guérin, Antoine, Kerner, Gaspard, Marr, Nico, Markle, Janet G, Fenollar, Florence, Wong, Natalie, Boughorbel, Sabri, Avery, Danielle T, Ma, Cindy S, Bougarn, Salim, Bouaziz, Matthieu, Béziat, Vivien, Della Mina, Erika, Oleaga-Quintas, Carmen, Lazarov, Tomi, Worley, Lisa, Nguyen, Tina, Patin, Etienne, Deswarte, Caroline, Martinez-Barricarte, Rubén, Boucherit, Soraya, Ayral, Xavier, Edouard, Sophie, Boisson-Dupuis, Stéphanie, Rattina, Vimel, Bigio, Benedetta, Vogt, Guillaume, Geissmann, Frédéric, Quintana-Murci, Lluis, Chaussabel, Damien, Tangye, Stuart G, Raoult, Didier, Abel, Laurent, Bustamante, Jacinta, Casanova, Jean-Laurent
Published in eLife (14.03.2018)
Published in eLife (14.03.2018)
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Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β
Li, Juan, Ritelli, Marco, Ma, Cindy S, Rao, Geetha, Habib, Tanwir, Corvilain, Emilie, Bougarn, Salim, Cypowyj, Sophie, Grodecká, Lucie, Lévy, Romain, Béziat, Vivien, Shang, Lei, Payne, Kathryn, Avery, Danielle T, Migaud, Mélanie, Boucherit, Soraya, Boughorbel, Sabri, Guennoun, Andrea, Chrabieh, Maya, Rapaport, Franck, Bigio, Benedetta, Itan, Yuval, Boisson, Bertrand, Cormier-Daire, Valérie, Syx, Delfien, Malfait, Fransiska, Zoppi, Nicoletta, Abel, Laurent, Freiberger, Tomáš, Dietz, Harry C, Marr, Nico, Tangye, Stuart G, Colombi, Marina, Casanova, Jean-Laurent, Puel, Anne
Published in Science immunology (29.11.2019)
Published in Science immunology (29.11.2019)
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Encephalitis and poor neuronal death-mediated control of herpes simplex virus in human inherited RIPK3 deficiency
Liu, Zhiyong, Garcia Reino, Eduardo J, Harschnitz, Oliver, Guo, Hongyan, Chan, Yi-Hao, Khobrekar, Noopur V, Hasek, Mary L, Dobbs, Kerry, Rinchai, Darawan, Materna, Marie, Matuozzo, Daniela, Lee, Danyel, Bastard, Paul, Chen, Jie, Lee, Yoon Seung, Kim, Seong K, Zhao, Shuxiang, Amin, Param, Lorenzo, Lazaro, Seeleuthner, Yoann, Chevalier, Remi, Mazzola, Laure, Gay, Claire, Stephan, Jean-Louis, Milisavljevic, Baptiste, Boucherit, Soraya, Rozenberg, Flore, Perez de Diego, Rebeca, Dix, Richard D, Marr, Nico, Béziat, Vivien, Cobat, Aurelie, Aubart, Mélodie, Abel, Laurent, Chabrier, Stephane, Smith, Gregory A, Notarangelo, Luigi D, Mocarski, Edward S, Studer, Lorenz, Casanova, Jean-Laurent, Zhang, Shen-Ying
Published in Science immunology (21.04.2023)
Published in Science immunology (21.04.2023)
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Early control of HIV-1 infection in long-term nonprogressors followed since diagnosis in the ANRS SEROCO/HEMOCO cohort
Madec, Yoann, Boufassa, Faroudy, Avettand-Fenoel, Veronique, Hendou, Samia, Melard, Adeline, Boucherit, Soraya, Surzyn, Janina, Meyer, Laurence, Rouzioux, Christine
Published in Journal of acquired immune deficiency syndromes (1999) (01.01.2009)
Published in Journal of acquired immune deficiency syndromes (1999) (01.01.2009)
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Abstract 18289: Acute Myocarditis as a Presentation of Autosomal Recessive Cardiomyopathy
Belkaya, Serkan, Kontorovich, Amy, Byun, Minji, Bajolle, Fanny, Mulero-Navarro, Sonia, Josowitz, Rebecca, Itan, Yuval, Cobat, Aurelie, Lorenzo, Lazaro, Boucherit, Soraya, Stoven, Cecile, Di Filippo, Sylvie, Abel, Laurent, Zhang, Shen-Ying, Bonnet, Damien, Gelb, Bruce D, Casanova, Jean-Laurent
Published in Circulation (New York, N.Y.) (11.11.2016)
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Published in Circulation (New York, N.Y.) (11.11.2016)
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Factors Associated with Mortality in Human Immunodeficiency Virus Type 1–Infected Adults Initiating Protease Inhibitor–Containing Therapy: Role of Education Level and of Early Transaminase Level Elevation (APROCO–ANRS EP11 Study)
Lewden, Charlotte, Raffi, François, Cuzin, Lise, Cailleton, Valérie, Vildé, Jean-Louis, Chêne, Geneviève, Allavena, Clotilde, Salamon, Roger
Published in The Journal of infectious diseases (01.09.2002)
Published in The Journal of infectious diseases (01.09.2002)
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IRF4 haploinsufficiency in a family with Whipple s disease
Antoine Gu rin, Kerner, Gaspard, Marr, Nico, Markle, Janet G, Fenollar, Florence, Wong, Natalie, Sabri Boughorbel, Avery, Danielle T, Ma, Cindy, Bougarn, Salim, Bouaziz, Matthieu, Beziat, Vivien, Erika Della Mina, Lazarovt, Tomi, Worley, Lisa, Nguyen, Tina, Patin, Etienne, Deswarte, Caroline, Rub n Martinez-Barricarte, Boucherit, Soraya, Ayral, Xavier, Edouard, Sophie, Boisson-Dupuis, Stephanie, Rattina, Vimel, Bigio, Benedetta, Vogt, Guillaume, Geissmann, Frederic, Quintana-Murci, Lluis, Chaussabel, Damien, Tangye, Stuart, Raoult, Didier, Abel, Laurent, Bustamante, Jacinta, Jean-Laurent Casanova
Published in bioRxiv (03.10.2017)
Published in bioRxiv (03.10.2017)
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