Plasma Exchange to Rescue Patients with Autoantibodies Against Type I Interferons and Life-Threatening COVID-19 Pneumonia

por de Prost, Nicolas, Bastard, Paul, Arrestier, Romain, Fourati, Slim, Mahévas, Mathieu, Burrel, Sonia, Dorgham, Karim, Gorochov, Guy, Tandjaoui-Lambiotte, Yacine, Azzaoui, Iname, Fernandes, Ignacio, Combes, Alain, Casanova, Jean-Laurent, Mekontso-Dessap, Armand, Luyt, Charles-Edouard
Publicado 2021

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation

por Vogt, Guillaume, Bustamante, Jacinta, Chapgier, Ariane, Feinberg, Jacqueline, Boisson Dupuis, Stephanie, Picard, Capucine, Mahlaoui, Nizar, Gineau, Laure, Alcaïs, Alexandre, Lamaze, Christophe, Puck, Jennifer M., de Saint Basile, Geneviève, Khayat, Claudia Djambas, Mikhael, Raymond, Casanova, Jean-Laurent
Publicado 2008

Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy

por Al-Owain, Mohammed, Kaya, Namik, Al-Zaidan, Hamad, Bin Hussain, Ibrahim, Al-Manea, Hadeel, Al-Hindi, Hindi, Kennedy, Shelley, Iqbal, M. Anwar, Al-Mojalli, Hamad, Al-Bakheet, Albandary, Puel, Anne, Casanova, Jean-Laurent, Al-Muhsen, Saleh
Publicado 2010

Centronuclear Myopathy in Labrador Retrievers: A Recent Founder Mutation in the PTPLA Gene Has Rapidly Disseminated Worldwide

por Maurer, Marie, Mary, Jérôme, Guillaud, Laurent, Fender, Marilyn, Pelé, Manuel, Bilzer, Thomas, Olby, Natasha, Penderis, Jacques, Shelton, G. Diane, Panthier, Jean-Jacques, Thibaud, Jean-Laurent, Barthélémy, Inès, Aubin-Houzelstein, Geneviève, Blot, Stéphane, Hitte, Christophe, Tiret, Laurent
Publicado 2012

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation

por Jabot-Hanin, Fabienne, Cobat, Aurélie, Feinberg, Jacqueline, Orlova, Marianna, Niay, Jonathan, Deswarte, Caroline, Poirier, Christine, Theodorou, Ioannis, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Alcaïs, Alexandre, Hoal, Eileen G., Delacourt, Christophe, Schurr, Erwin, Abel, Laurent
Publicado 2017

Human Lentiviral Gene Therapy Restores the Cellular Phenotype of Autosomal Recessive Complete IFN-γR1 Deficiency

por Hahn, Katharina, Pollmann, Liart, Nowak, Juliette, Nguyen, Ariane Hai Ha, Haake, Kathrin, Neehus, Anna-Lena, Waqas, Syed F. Hassnain, Pessler, Frank, Baumann, Ulrich, Hetzel, Miriam, Casanova, Jean-Laurent, Schulz, Ansgar, Bustamante, Jacinta, Ackermann, Mania, Lachmann, Nico
Publicado 2020

Leukocytoclastic vasculitis in patients with IL12B or IL12RB1 deficiency: case report and review of the literature

por Sharifinejad, Niusha, Mahdaviani, Seyed Alireza, Jamee, Mahnaz, Daneshmandi, Zahra, Moniri, Afshin, Marjani, Majid, Tabarsi, Payam, Farnia, Parisa, Rekabi, Mahsa, Fallahi, Mazdak, Hashemimoghaddam, Seyedeh Atefeh, Mohkam, Masoumeh, Bustamante, Jacinta, Casanova, Jean-Laurent, Mansouri, Davood, Velayati, Ali Akbar
Publicado 2021

Autoantibodies against type I IFNs in patients with Ph-negative myeloproliferative neoplasms

por Borsani, Oscar, Bastard, Paul, Rosain, Jérémie, Gervais, Adrian, Sant’Antonio, Emanuela, Vanni, Daniele, Casetti, Ilaria Carola, Pietra, Daniela, Trotti, Chiara, Catricalà, Silvia, Ferretti, Virginia Valeria, Malcovati, Luca, Arcaini, Luca, Casanova, Jean-Laurent, Borghesi, Alessandro, Rumi, Elisa
Publicado 2022

Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populat...

por Jabot-Hanin, Fabienne, Cobat, Aurélie, Feinberg, Jacqueline, Grange, Ghislain, Remus, Natascha, Poirier, Christine, Boland-Auge, Anne, Besse, Céline, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Schurr, Erwin, Alcaïs, Alexandre, Hoal, Eileen G., Delacourt, Christophe, Abel, Laurent
Publicado 2016

Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway

por Haake, Kathrin, Neehus, Anna-Lena, Buchegger, Theresa, Kühnel, Mark Philipp, Blank, Patrick, Philipp, Friederike, Oleaga-Quintas, Carmen, Schulz, Ansgar, Grimley, Michael, Goethe, Ralph, Jonigk, Danny, Kalinke, Ulrich, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Bustamante, Jacinta, Lachmann, Nico
Publicado 2020

SARS-CoV-2 induces human plasmacytoid pre-dendritic cell diversification via UNC93B and IRAK4

por Onodi, Fanny, Bonnet-Madin, Lucie, Meertens, Laurent, Karpf, Léa, Poirot, Justine, Zhang, Shen-Ying, Picard, Capucine, Puel, Anne, Jouanguy, Emmanuelle, Zhang, Qian, Le Goff, Jérôme, Molina, Jean-Michel, Delaugerre, Constance, Casanova, Jean-Laurent, Amara, Ali, Soumelis, Vassili
Publicado 2021

SARS-CoV-2 induces human plasmacytoid predendritic cell diversification via UNC93B and IRAK4

por Onodi, Fanny, Bonnet-Madin, Lucie, Meertens, Laurent, Karpf, Léa, Poirot, Justine, Zhang, Shen-Ying, Picard, Capucine, Puel, Anne, Jouanguy, Emmanuelle, Zhang, Qian, Le Goff, Jérôme, Molina, Jean-Michel, Delaugerre, Constance, Casanova, Jean-Laurent, Amara, Ali, Soumelis, Vassili
Publicado 2021

A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection

por Andreakos, Evangelos, Abel, Laurent, Vinh, Donald C., Kaja, Elżbieta, Drolet, Beth A., Zhang, Qian, O’Farrelly, Cliona, Novelli, Giuseppe, Rodríguez-Gallego, Carlos, Haerynck, Filomeen, Prando, Carolina, Pujol, Aurora, Su, Helen C., Casanova, Jean-Laurent, Spaan, András N.
Publicado 2021

Author Correction: A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection

por Andreakos, Evangelos, Abel, Laurent, Vinh, Donald C., Kaja, Elżbieta, Drolet, Beth A., Zhang, Qian, O’Farrelly, Cliona, Novelli, Giuseppe, Rodríguez-Gallego, Carlos, Haerynck, Filomeen, Prando, Carolina, Pujol, Aurora, Su, Helen C., Casanova, Jean-Laurent, Spaan, András N.
Publicado 2021

Invasive Rhinosinusitis Caused by Alternaria infectoria in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature

por Paccoud, Olivier, Vignier, Nicolas, Boui, Mohammed, Migaud, Mélanie, Vironneau, Pierre, Kania, Romain, Méchaï, Frédéric, Brun, Sophie, Alanio, Alexandre, Tauziède-Espariat, Arnault, Adle-Biassette, Homa, Ouedraogo, Elise, Bustamante, Jacinta, Bouchaud, Olivier, Casanova, Jean-Laurent, Puel, Anne, Lanternier, Fanny
Publicado 2022

A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency

por Thouenon, Romane, Chentout, Loïc, Moreno-Corona, Nidia, Poggi, Lucie, Lombardi, Emilia Puig, Hoareau, Benedicte, Schmitt, Yohann, Lagresle-Peyrou, Chantal, Bustamante, Jacinta, André, Isabelle, Cavazzana, Marina, Durandy, Anne, Casanova, Jean-Laurent, Galicier, Lionel, Fadlallah, Jehane, Fischer, Alain, Kracker, Sven
Publicado 2023

Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation

por Hautala, Timo, Chen, Jie, Tervonen, Laura, Partanen, Terhi, Winqvist, Satu, Lehtonen, Johanna, Saarela, Janna, Kraatari, Minna, Kuismin, Outi, Vuorinen, Tytti, Glumoff, Virpi, Åström, Pirjo, Huuskonen, Usko, Lorenzo, Lazaro, Casanova, Jean-Laurent, Zhang, Shen-Ying, Seppänen, Mikko R.J.
Publicado 2020

SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

por Sancho-Shimizu, Vanessa, Brodin, Petter, Cobat, Aurélie, Biggs, Catherine M., Toubiana, Julie, Lucas, Carrie L., Henrickson, Sarah E., Belot, Alexandre, Tangye, Stuart G., Milner, Joshua D., Levin, Michael, Abel, Laurent, Bogunovic, Dusan, Casanova, Jean-Laurent, Zhang, Shen-Ying
Publicado 2021

A Serpin Shapes the Extracellular Environment to Prevent Influenza A Virus Maturation

por Dittmann, Meike, Hoffmann, Hans-Heinrich, Scull, Margaret A., Gilmore, Rachel H., Bell, Kierstin L., Ciancanelli, Michael, Wilson, Sam J., Crotta, Stefania, Yu, Yingpu, Flatley, Brenna, Xiao, Jing W., Casanova, Jean-Laurent, Wack, Andreas, Bieniasz, Paul D., Rice, Charles M.
Publicado 2015

IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation

por Nishimura, Shiho, Kobayashi, Yoshiyuki, Ohnishi, Hidenori, Moriya, Kunihiko, Tsumura, Miyuki, Sakata, Sonoko, Mizoguchi, Yoko, Takada, Hidetoshi, Kato, Zenichiro, Sancho-Shimizu, Vanessa, Picard, Capucine, Irani, Sarosh R., Ohara, Osamu, Casanova, Jean-Laurent, Puel, Anne, Ishikawa, Nobutsune, Okada, Satoshi, Kobayashi, Masao
Publicado 2020