Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child
Ogishi, Masato, Yang, Rui, Aytekin, Caner, Langlais, David, Bourgey, Mathieu, Khan, Taushif, Ali, Fatima Al, Rahman, Mahbuba, Delmonte, Ottavia M, Chrabieh, Maya, Zhang, Peng, Gruber, Conor, Pelham, Simon J, Spaan, András N, Rosain, Jérémie, Lei, Wei-Te, Drutman, Scott, Hellmann, Matthew D, Callahan, Margaret K, Adamow, Matthew, Wong, Phillip, Wolchok, Jedd D, Rao, Geetha, Ma, Cindy S, Nakajima, Yuka, Yaguchi, Tomonori, Chamoto, Kenji, Williams, Samuel C, Emile, Jean-Francois, Rozenberg, Flore, Glickman, Michael S, Rapaport, Franck, Kerner, Gaspard, Allington, Garrett, Tezcan, Ilhan, Cagdas, Deniz, Hosnut, Ferda O, Dogu, Figen, Ikinciogullari, Aydan, Rao, V Koneti, Kainulainen, Leena, Béziat, Vivien, Bustamante, Jacinta, Vilarinho, Silvia, Lifton, Richard P, Boisson, Bertrand, Abel, Laurent, Bogunovic, Dusan, Marr, Nico, Notarangelo, Luigi D, Tangye, Stuart G, Honjo, Tasuku, Gros, Philippe, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent
Published in Nature medicine (01.09.2021)
Published in Nature medicine (01.09.2021)
Get full text
Journal Article
Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia
Boisson, Bertrand, Laplantine, Emmanuel, Dobbs, Kerry, Cobat, Aurélie, Tarantino, Nadine, Hazen, Melissa, Lidov, Hart G W, Hopkins, Gregory, Du, Likun, Belkadi, Aziz, Chrabieh, Maya, Itan, Yuval, Picard, Capucine, Fournet, Jean-Christophe, Eibel, Hermann, Tsitsikov, Erdyni, Pai, Sung-Yun, Abel, Laurent, Al-Herz, Waleed, Casanova, Jean-Laurent, Israel, Alain, Notarangelo, Luigi D
Published in The Journal of experimental medicine (01.06.2015)
Published in The Journal of experimental medicine (01.06.2015)
Get full text
Journal Article
Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis
Marrakchi, Slaheddine, Guigue, Philippe, Renshaw, Blair R, Puel, Anne, Pei, Xue-Yuan, Fraitag, Sylvie, Zribi, Jihen, Bal, Elodie, Cluzeau, Céline, Chrabieh, Maya, Towne, Jennifer E, Douangpanya, Jason, Pons, Christian, Mansour, Sourour, Serre, Valérie, Makni, Hafedh, Mahfoudh, Nadia, Fakhfakh, Faiza, Bodemer, Christine, Feingold, Josué, Hadj-Rabia, Smail, Favre, Michel, Genin, Emmanuelle, Sahbatou, Mourad, Munnich, Arnold, Casanova, Jean-Laurent, Sims, John E, Turki, Hamida, Bachelez, Hervé, Smahi, Asma
Published in The New England journal of medicine (18.08.2011)
Published in The New England journal of medicine (18.08.2011)
Get full text
Journal Article
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
Boisson, Bertrand, Honda, Yoshitaka, Ajiro, Masahiko, Bustamante, Jacinta, Bendavid, Matthieu, Gennery, Andrew R, Kawasaki, Yuri, Ichishima, Jose, Osawa, Mitsujiro, Nihira, Hiroshi, Shiba, Takeshi, Tanaka, Takayuki, Chrabieh, Maya, Bigio, Benedetta, Hur, Hong, Itan, Yuval, Liang, Yupu, Okada, Satoshi, Izawa, Kazushi, Nishikomori, Ryuta, Ohara, Osamu, Heike, Toshio, Abel, Laurent, Puel, Anne, Saito, Megumu K, Casanova, Jean-Laurent, Hagiwara, Masatoshi, Yasumi, Takahiro
Published in The Journal of clinical investigation (01.02.2019)
Published in The Journal of clinical investigation (01.02.2019)
Get full text
Journal Article
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts
Mina, Erika Della, Borghesi, Alessandro, Zhou, Hao, Bougarn, Salim, Boughorbel, Sabri, Israel, Laura, Meloni, Ilaria, Chrabieh, Maya, Ling, Yun, Itan, Yuval, Renieri, Alessandra, Mazzucchelli, Iolanda, Basso, Sabrina, Pavone, Piero, Falsaperla, Raffaele, Ciccone, Roberto, Cerbo, Rosa Maria, Stronati, Mauro, Picard, Capucine, Zuffardi, Orsetta, Abel, Laurent, Chaussabel, Damien, Marr, Nico, Li, Xiaoxia, Casanova, Jean-Laurent, Puel, Anne
Published in Proceedings of the National Academy of Sciences - PNAS (24.01.2017)
Published in Proceedings of the National Academy of Sciences - PNAS (24.01.2017)
Get full text
Journal Article
Genome-wide association study of Buruli ulcer in rural Benin highlights role of two LncRNAs and the autophagy pathway
Manry, Jeremy, Vincent, Quentin B, Johnson, Christian, Chrabieh, Maya, Lorenzo, Lazaro, Theodorou, Ioannis, Ardant, Marie-Françoise, Marion, Estelle, Chauty, Annick, Marsollier, Laurent, Abel, Laurent, Alcaïs, Alexandre
Published in Communications biology (20.04.2020)
Published in Communications biology (20.04.2020)
Get full text
Journal Article
Proinflammatory cytokine response toward fungi but not bacteria in chronic granulomatous disease
Gazendam, Roel P., MD, van de Geer, Annemarie, MD, van Hamme, John L., BSc, Helgers, Leanne, BSc, Rohr, Jan, MD, PhD, Chrabieh, Maya, MD, PhD, Picard, Capucine, MD, PhD, Roos, Dirk, PhD, van den Berg, J. Merlijn, MD, PhD, van den Berg, T.K., PhD, Kuijpers, Taco W., MD, PhD
Published in Journal of allergy and clinical immunology (01.09.2016)
Published in Journal of allergy and clinical immunology (01.09.2016)
Get full text
Journal Article
IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature
Gobin, Karina, Hintermeyer, Mary, Boisson, Bertrand, Chrabieh, Maya, Gandil, Pegah, Puel, Ann, Picard, Capucine, Casanova, Jean-Laurent, Routes, John, Verbsky, James
Published in Frontiers in pediatrics (28.04.2017)
Published in Frontiers in pediatrics (28.04.2017)
Get full text
Journal Article
A fast procedure for the detection of defects in Toll-like receptor signaling
von Bernuth, Horst, Ku, Cheng-Lung, Rodriguez-Gallego, Carlos, Zhang, Shenying, Garty, Ben-Zion, Maródi, László, Chapel, Helen, Chrabieh, Maya, Miller, Richard L, Picard, Capucine, Puel, Anne, Casanova, Jean-Laurent
Published in Pediatrics (Evanston) (01.12.2006)
Published in Pediatrics (Evanston) (01.12.2006)
Get more information
Journal Article
Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature
Gobin, Karina S, Hintermeyer, Mary, Boisson, Bertrand, Chrabieh, Maya, Ghandil, Pegah, Puel, Anne, Picard, Capucine, Casanova, Jean-Laurent, Routes, John, Verbsky, James
Published in Frontiers in pediatrics (02.03.2018)
Published in Frontiers in pediatrics (02.03.2018)
Get full text
Journal Article
Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine
Bastard, Paul, Michailidis, Eleftherios, Hoffmann, Hans-Heinrich, Chbihi, Marwa, Le Voyer, Tom, Rosain, Jérémie, Philippot, Quentin, Seeleuthner, Yoann, Gervais, Adrian, Materna, Marie, de Oliveira, Patricia Mouta Nunes, Maia, Maria de Lourdes S, Dinis Ano Bom, Ana Paula, Azamor, Tamiris, Araújo da Conceição, Deborah, Goudouris, Ekaterini, Homma, Akira, Slesak, Günther, Schäfer, Johannes, Pulendran, Bali, Miller, Joseph D, Huits, Ralph, Yang, Rui, Rosen, Lindsey B, Bizien, Lucy, Lorenzo, Lazaro, Chrabieh, Maya, Erazo, Lucia V, Rozenberg, Flore, Jeljeli, Mohamed Maxime, Béziat, Vivien, Holland, Steven M, Cobat, Aurélie, Notarangelo, Luigi D, Su, Helen C, Ahmed, Rafi, Puel, Anne, Zhang, Shen-Ying, Abel, Laurent, Seligman, Stephen J, Zhang, Qian, MacDonald, Margaret R, Jouanguy, Emmanuelle, Rice, Charles M, Casanova, Jean-Laurent
Published in The Journal of experimental medicine (05.04.2021)
Published in The Journal of experimental medicine (05.04.2021)
Get full text
Journal Article
Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity
Puel, Anne, Cypowyj, Sophie, Bustamante, Jacinta, Wright, Jill F., Liu, Luyan, Lim, Hye Kyung, Migaud, Mélanie, Israel, Laura, Chrabieh, Maya, Audry, Magali, Gumbleton, Matthew, Toulon, Antoine, Bodemer, Christine, El-Baghdadi, Jamila, Whitters, Matthew, Paradis, Theresa, Brooks, Jonathan, Collins, Mary, Wolfman, Neil M., Al-Muhsen, Saleh, Galicchio, Miguel, Abel, Laurent, Picard, Capucine, Casanova, Jean-Laurent
Published in Science (American Association for the Advancement of Science) (01.04.2011)
Published in Science (American Association for the Advancement of Science) (01.04.2011)
Get full text
Journal Article
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
Liu, Luyan, Okada, Satoshi, Kong, Xiao-Fei, Kreins, Alexandra Y, Cypowyj, Sophie, Abhyankar, Avinash, Toubiana, Julie, Itan, Yuval, Audry, Magali, Nitschke, Patrick, Masson, Cécile, Toth, Beata, Flatot, Jérome, Migaud, Mélanie, Chrabieh, Maya, Kochetkov, Tatiana, Bolze, Alexandre, Borghesi, Alessandro, Toulon, Antoine, Hiller, Julia, Eyerich, Stefanie, Eyerich, Kilian, Gulácsy, Vera, Chernyshova, Ludmyla, Chernyshov, Viktor, Bondarenko, Anastasia, Grimaldo, Rosa María Cortés, Blancas-Galicia, Lizbeth, Beas, Ileana Maria Madrigal, Roesler, Joachim, Magdorf, Klaus, Engelhard, Dan, Thumerelle, Caroline, Burgel, Pierre-Régis, Hoernes, Miriam, Drexel, Barbara, Seger, Reinhard, Kusuma, Theresia, Jansson, Annette F, Sawalle-Belohradsky, Julie, Belohradsky, Bernd, Jouanguy, Emmanuelle, Bustamante, Jacinta, Bué, Mélanie, Karin, Nathan, Wildbaum, Gizi, Bodemer, Christine, Lortholary, Olivier, Fischer, Alain, Blanche, Stéphane, Al-Muhsen, Saleh, Reichenbach, Janine, Kobayashi, Masao, Rosales, Francisco Espinosa, Lozano, Carlos Torres, Kilic, Sara Sebnem, Oleastro, Matias, Etzioni, Amos, Traidl-Hoffmann, Claudia, Renner, Ellen D, Abel, Laurent, Picard, Capucine, Maródi, László, Boisson-Dupuis, Stéphanie, Puel, Anne, Casanova, Jean-Laurent
Published in The Journal of experimental medicine (01.08.2011)
Published in The Journal of experimental medicine (01.08.2011)
Get full text
Journal Article
Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease
Le Voyer, Tom, Neehus, Anna-Lena, Yang, Rui, Ogishi, Masato, Rosain, Jérémie, Alroqi, Fayhan, Alshalan, Maha, Blumental, Sophie, Al Ali, Fatima, Khan, Taushif, Ata, Manar, Rozen, Laurence, Demulder, Anne, Bastard, Paul, Gruber, Conor, Roynard, Manon, Seeleuthener, Yoann, Rapaport, Franck, Bigio, Benedetta, Chrabieh, Maya, Sng, Danielle, Berteloot, Laureline, Boddaert, Nathalie, Rozenberg, Flore, Al-Muhsen, Saleh, Bertoli-Avella, Aida, Abel, Laurent, Bogunovic, Dusan, Marr, Nico, Mansouri, Davood, Al Mutairi, Fuad, Béziat, Vivien, Weil, Dominique, Mahdaviani, Seyed Alireza, Ferster, Alina, Zhang, Shen-Ying, Reversade, Bruno, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Bustamante, Jacinta
Published in Proceedings of the National Academy of Sciences - PNAS (13.04.2021)
Published in Proceedings of the National Academy of Sciences - PNAS (13.04.2021)
Get full text
Journal Article
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I
Puel, Anne, Döffinger, Rainer, Natividad, Angels, Chrabieh, Maya, Barcenas-Morales, Gabriela, Picard, Capucine, Cobat, Aurélie, Ouachée-Chardin, Marie, Toulon, Antoine, Bustamante, Jacinta, Al-Muhsen, Saleh, Al-Owain, Mohammed, Arkwright, Peter D, Costigan, Colm, McConnell, Vivienne, Cant, Andrew J, Abinun, Mario, Polak, Michel, Bougnères, Pierre-François, Kumararatne, Dinakantha, Marodi, László, Nahum, Amit, Roifman, Chaim, Blanche, Stéphane, Fischer, Alain, Bodemer, Christine, Abel, Laurent, Lilic, Desa, Casanova, Jean-Laurent
Published in The Journal of experimental medicine (15.02.2010)
Published in The Journal of experimental medicine (15.02.2010)
Get full text
Journal Article
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency
Boisson, Bertrand, Laplantine, Emmanuel, Prando, Carolina, Giliani, Silvia, Israelsson, Elisabeth, Xu, Zhaohui, Abhyankar, Avinash, Israël, Laura, Trevejo-Nunez, Giraldina, Bogunovic, Dusan, Cepika, Alma-Martina, MacDuff, Donna, Chrabieh, Maya, Hubeau, Marjorie, Bajolle, Fanny, Debré, Marianne, Mazzolari, Evelina, Vairo, Donatella, Agou, Fabrice, Virgin, Herbert W, Bossuyt, Xavier, Rambaud, Caroline, Facchetti, Fabio, Bonnet, Damien, Quartier, Pierre, Fournet, Jean-Christophe, Pascual, Virginia, Chaussabel, Damien, Notarangelo, Luigi D, Puel, Anne, Israël, Alain, Casanova, Jean-Laurent, Picard, Capucine
Published in Nature immunology (01.12.2012)
Published in Nature immunology (01.12.2012)
Get full text
Journal Article
Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance
Asano, Takaki, Khourieh, Joëlle, Zhang, Peng, Rapaport, Franck, Spaan, András N, Li, Juan, Lei, Wei-Te, Pelham, Simon J, Hum, David, Chrabieh, Maya, Han, Ji Eun, Guérin, Antoine, Mackie, Joseph, Gupta, Sudhir, Saikia, Biman, Baghdadi, Jamila E I, Fadil, Ilham, Bousfiha, Aziz, Habib, Tanwir, Marr, Nico, Ganeshanandan, Luckshman, Peake, Jane, Droney, Luke, Williams, Andrew, Celmeli, Fatih, Hatipoglu, Nevin, Ozcelik, Tayfun, Picard, Capucine, Abel, Laurent, Tangye, Stuart G, Boisson-Dupuis, Stéphanie, Zhang, Qian, Puel, Anne, Béziat, Vivien, Casanova, Jean-Laurent, Boisson, Bertrand
Published in The Journal of experimental medicine (02.08.2021)
Published in The Journal of experimental medicine (02.08.2021)
Get full text
Journal Article
Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency
Li, Juan, Lei, Wei-Te, Zhang, Peng, Rapaport, Franck, Seeleuthner, Yoann, Lyu, Bingnan, Asano, Takaki, Rosain, Jérémie, Hammadi, Boualem, Zhang, Yu, Pelham, Simon J, Spaan, András N, Migaud, Mélanie, Hum, David, Bigio, Benedetta, Chrabieh, Maya, Béziat, Vivien, Bustamante, Jacinta, Zhang, Shen-Ying, Jouanguy, Emmanuelle, Boisson-Dupuis, Stephanie, El Baghdadi, Jamila, Aimanianda, Vishukumar, Thoma, Katharina, Fliegauf, Manfred, Grimbacher, Bodo, Korganow, Anne-Sophie, Saunders, Carol, Rao, V Koneti, Uzel, Gulbu, Freeman, Alexandra F, Holland, Steven M, Su, Helen C, Cunningham-Rundles, Charlotte, Fieschi, Claire, Abel, Laurent, Puel, Anne, Cobat, Aurélie, Casanova, Jean-Laurent, Zhang, Qian, Boisson, Bertrand
Published in The Journal of experimental medicine (01.11.2021)
Published in The Journal of experimental medicine (01.11.2021)
Get full text
Journal Article
Pyogenic Bacterial Infections in Humans with MyD88 Deficiency
von Bernuth, Horst, Picard, Capucine, Jin, Zhongbo, Pankla, Rungnapa, Xiao, Hui, Ku, Cheng-Lung, Chrabieh, Maya, Mustapha, Imen Ben, Ghandil, Pegah, Camcioglu, Yildiz, Vasconcelos, Júlia, Sirvent, Nicolas, Guedes, Margarida, Vitor, Artur Bonito, Herrero-Mata, María José, Aróstegui, Juan Ignacio, Rodrigo, Carlos, Alsina, Laia, Ruiz-Ortiz, Estibaliz, Juan, Manel, Fortuny, Claudia, Yagüe, Jordi, Antón, Jordi, Pascal, Mariona, Chang, Huey-Hsuan, Janniere, Lucile, Rose, Yoann, Garty, Ben-Zion, Chapel, Helen, Issekutz, Andrew, Maródi, László, Rodriguez-Gallego, Carlos, Banchereau, Jacques, Abel, Laurent, Li, Xiaoxia, Chaussabel, Damien, Puel, Anne, Casanova, Jean-Laurent
Published in Science (American Association for the Advancement of Science) (01.08.2008)
Published in Science (American Association for the Advancement of Science) (01.08.2008)
Get full text
Journal Article
Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome
Le Goff, Carine, Rogers, Curtis, Le Goff, Wilfried, Pinto, Graziella, Bonnet, Damien, Chrabieh, Maya, Alibeu, Olivier, Nistchke, Patrick, Munnich, Arnold, Picard, Capucine, Cormier-Daire, Valérie
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
Get full text
Journal Article