Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation

por Minić, Snežana, Trpinac, Dušan, Novaković, Ivana, Cerovac, Nataša, Dobrosavljević Vukojević, Danijela, Rosain, Jérémie
Publicado 2022

Autoantibodies neutralizing type I interferons in 20% of COVID-19 deaths in a French hospital

por Chauvineau-Grenier, Angélique, Bastard, Paul, Servajean, Antoine, Gervais, Adrian, Rosain, Jérémie, Jouanguy, Emmanuelle, Cobat, Aurélie, Casanova, Jean-Laurent, Rossi, Benjamin
Publicado 2021

Autoantibodies Neutralizing Type I Interferons in 20% of COVID-19 Deaths in a French Hospital

por Chauvineau-Grenier, Angélique, Bastard, Paul, Servajean, Antoine, Gervais, Adrian, Rosain, Jérémie, Jouanguy, Emmanuelle, Cobat, Aurélie, Casanova, Jean-Laurent, Rossi, Benjamin
Publicado 2022

Auto-anticorps anti-interférons de type I et COVID-19 sévère

por Bastard, Paul, Gervais, Adrian, Le Voyer, Tom, Rosain, Jérémie, Philippot, Quentin, Casanova, Jean-Laurent, Zhang, Qian, Jouanguy, Emmanuelle, Tiberghien, Pierre, Puel, Anne
Publicado 2021

Impaired thymic AIRE expression underlies autoantibodies against type I IFNs in humans with inborn errors of the alternative NF-κB pathway

por Voyer, Tom Le, Gervais, Adrian, Rosain, Jérémie, Parent, Audrey V., Cederholm, Axel, Roifman, Chaim, Landegren, Nils, Anderson, Mark S., Casanova, Jean-Laurent, Puel, Anne
Publicado 2023

Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing

por Bigio, Benedetta, Seeleuthner, Yoann, Kerner, Gaspard, Migaud, Mélanie, Rosain, Jérémie, Boisson, Bertrand, Nasca, Carla, Puel, Anne, Bustamante, Jacinta, Casanova, Jean-Laurent, Abel, Laurent, Cobat, Aurelie
Publicado 2021

Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy

por Gruber, Conor, Martin-Fernandez, Marta, Ailal, Fatima, Qiu, Xueer, Taft, Justin, Altman, Jennie, Rosain, Jérémie, Buta, Sofija, Bousfiha, Aziz, Casanova, Jean-Laurent, Bustamante, Jacinta, Bogunovic, Dusan
Publicado 2020

Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies

por El Sissy, Carine, Rosain, Jérémie, Vieira-Martins, Paula, Bordereau, Pauline, Gruber, Aurélia, Devriese, Magali, de Pontual, Loïc, Taha, Muhamed-Kheir, Fieschi, Claire, Picard, Capucine, Frémeaux-Bacchi, Véronique
Publicado 2019

Bayesian Modeling Immune Reconstitution Apply to CD34+ Selected Stem Cell Transplantation for Severe Combined Immunodeficiency

por Diana, Jean-Sebastien, Bouazza, Naïm, Couzin, Chloe, Castelle, Martin, Magnani, Alessandra, Magrin, Elisa, Rosain, Jeremie, Treluyer, Jean-Marc, Picard, Capucine, Moshous, Despina, Blanche, Stéphane, Neven, Bénédicte, Cavazzana, Marina
Publicado 2022

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, Ferretti, Virginia Valeria, Malcovati, Luca, Arcaini, Luca, Borghesi, Alessandro, Casanova, Jean-Laurent, Rumi, Elisa
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

Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency

por Rosain, Jérémie, Bernasconi, Andrea, Prieto, Emma, Caputi, Lucia, Le Voyer, Tom, Buda, Guadalupe, Marti, Marcelo, Bohlen, Jonathan, Neehus, Anna-Lena, Castaños, Claudio, Gallagher, Rosario, Dorgham, Karim, Oleastro, Matias, Perez, Laura, Danielian, Silvia, Dipierri, Jose Edgardo, Casanova, Jean-Laurent, Bustamante, Jacinta, Villa, Mariana
Publicado 2022

Partial human Janus kinase 1 deficiency predominantly impairs responses to interferon gamma and intracellular control of mycobacteria

por Daza-Cajigal, Vanessa, Albuquerque, Adriana S., Young, Dan F., Ciancanelli, Michael J., Moulding, Dale, Angulo, Ivan, Jeanne-Julien, Valentine, Rosain, Jérémie, Minskaia, Ekaterina, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Randall, Richard E., McHugh, Timothy D., Thrasher, Adrian J., Burns, Siobhan O.
Publicado 2022

Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds

por Charbit-Henrion, Fabienne, Bègue, Bernadette, Sierra, Anaïs, Hanein, Sylvain, Stolzenberg, Marie-Claude, Li, Zhi, Pellegrini, Sandra, Garcelon, Nicolas, Jeanpierre, Marc, Neven, Bénédicte, Loge, Isabelle, Picard, Capucine, Rosain, Jérémie, Bustamante, Jacinta, Le Lorc’h, Marc, Pigneur, Bénédicte, Fernandes, Alicia, Rieux-Laucat, Frédéric, Amil Dias, Jorge, Ruemmele, Frank M., Cerf-Bensussan, Nadine
Publicado 2018

High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency

por Yang, Rui, Weisshaar, Marc, Mele, Federico, Benhsaien, Ibtihal, Dorgham, Karim, Han, Jing, Croft, Carys A., Notarbartolo, Samuele, Rosain, Jérémie, Bastard, Paul, Puel, Anne, Fleckenstein, Bernhard, Glimcher, Laurie H., Di Santo, James P., Ma, Cindy S., Gorochov, Guy, Bousfiha, Aziz, Abel, Laurent, Tangye, Stuart G., Casanova, Jean-Laurent, Bustamante, Jacinta, Sallusto, Federica
Publicado 2021

Pre-existing Autoantibodies Neutralizing High Concentrations of Type I Interferons in Almost 10% of COVID-19 Patients Admitted to Intensive Care in Barcelona

por Solanich, Xavier, Rigo-Bonnin, Raúl, Gumucio, Victor-David, Bastard, Paul, Rosain, Jérémie, Philippot, Quentin, Perez-Fernandez, Xosé-Luis, Fuset-Cabanes, Maria-Paz, Gordillo-Benitez, Miguel-Ángel, Suarez-Cuartin, Guillermo, Boza-Hernandez, Enric, Riera-Mestre, Antoni, Parra-Martínez, Alba, Colobran, Roger, Antolí, Arnau, Navarro, Sergio, Rocamora-Blanch, Gemma, Framil, Mario, Calatayud, Laura, Corbella, Xavier, Casanova, Jean-Laurent, Morandeira, Francisco, Sabater-Riera, Joan
Publicado 2021

A partial form of inherited human USP18 deficiency underlies infection and inflammation

por Martin-Fernandez, Marta, Buta, Sofija, Le Voyer, Tom, Li, Zhi, Dynesen, Lasse Toftdal, Vuillier, Françoise, Franklin, Lina, Ailal, Fatima, Muglia Amancio, Alice, Malle, Louise, Gruber, Conor, Benhsaien, Ibtihal, Altman, Jennie, Taft, Justin, Deswarte, Caroline, Roynard, Manon, Nieto-Patlan, Alejandro, Moriya, Kunihiko, Rosain, Jérémie, Boddaert, Nathalie, Bousfiha, Aziz, Crow, Yanick J., Jankovic, Dragana, Sher, Alan, Casanova, Jean-Laurent, Pellegrini, Sandra, Bustamante, Jacinta, Bogunovic, Dusan
Publicado 2022

Autoantibodies Neutralizing Type I IFNs in the Bronchoalveolar Lavage of at Least 10% of Patients During Life-Threatening COVID-19 Pneumonia

por Philippot, Quentin, Fekkar, Arnaud, Gervais, Adrian, Le Voyer, Tom, Boers, Leonoor S., Conil, Clément, Bizien, Lucy, de Brabander, Justin, Duitman, Jan Willem, Romano, Alessia, Rosain, Jérémie, Blaize, Marion, Migaud, Mélanie, Jeljeli, Maxime, Hammadi, Boualem, Desmons, Aurore, Marchal, Astrid, Mayaux, Julien, Zhang, Qian, Jouanguy, Emmanuelle, Borie, Raphael, Crestani, Bruno, Luyt, Charles Edouard, Adle-Biassette, Homa, Sene, Damien, Megarbane, Bruno, Cobat, Aurélie, Bastard, Paul, Bos, Lieuwe D. J., Casanova, Jean-Laurent, Puel, Anne
Publicado 2023

Human T-bet governs the generation of a distinct subset of CD11c(high)CD21(low) B cells

por Yang, Rui, Avery, Danielle T., Jackson, Katherine J. L., Ogishi, Masato, Benhsaien, Ibtihal, Du, Likun, Ye, Xiaofei, Han, Jing, Rosain, Jérémie, Peel, Jessica N., Alyanakian, Marie-Alexandra, Neven, Bénédicte, Winter, Sarah, Puel, Anne, Boisson, Bertrand, Payne, Kathryn J., Wong, Melanie, Russell, Amanda J., Mizoguchi, Yoko, Okada, Satoshi, Uzel, Gulbu, Goodnow, Christopher C., Latour, Sylvain, Bakkouri, Jalila El, Bousfiha, Aziz, Preece, Kahn, Gray, Paul E., Keller, Baerbel, Warnatz, Klaus, Boisson-Dupuis, Stéphanie, Abel, Laurent, Pan-Hammarström, Qiang, Bustamante, Jacinta, Ma, Cindy S., Casanova, Jean-Laurent, Tangye, Stuart G.
Publicado 2022

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

por 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
Publicado 2021