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2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency Brakta, Charlyne; Tabet, Anne-Claude; Puel, Mathilde; Pacault, Mathilde; Stolzenberg, Marie-Claude; Goudet, Claire; Merger, Marguerite; Reumaux, Heloise; Lambert, Nathalie; Alioua, Najiba; Malan, Valerie; Hanein, Sylvain; Dupin-Deguine, Delphine; Treiner, Emmanuel; Lefevre, Guillaume; Farhat, Meryem-Maud; Luca, Luminita Elena; Hureaux, Marguerite; Li, Hailun; Chelloug, Nora; Dehak, Rabha; Boussion, Simon; Ouachee-Chardin, Marie; Schleinitz, Nicolas; Abou Chahla, Wadih; Barlogis, Vincent; Vely, Frederic; Oksenhendler, Eric; Quartier, Pierre; Pasquet, Marlene; Suarez, Felipe; Bustamante, Jacinta; Neven, Benedicte; Picard, Capucine; Rieux-Laucat, Frederic; Levy, Jonathan; Rosain, Jeremie Share Save
Case report: A novel JAK3 homozygous variant in a patient with severe combined immunodeficiency and persistent COVID-19 Sbruzzi, Renan Cesar; Prado, Mayara Jorgens; Fam, Bibiana; Prolla, Helena Ashton; Hellwig, Alessandra; Rodrigues, Grazielle Motta; de-Paris, Fernanda; Jobim, Mariana; Artigalas, Osvaldo; Seeleuthner, Yoann; Casanova, Jean-Laurent; Bustamante, Jacinta; Vianna, Fernanda Sales Luiz Share Save
Human CFTR deficient iPSC-macrophages reveal impaired functional and transcriptomic response upon Pseudomonas aeruginosa infection Rodriguez Gonzalez, Claudio; Basilio-Queiros, Debora; Neehus, Anna-Lena; Merkert, Sylvia; Tschritter, David; Uenal, Sinem; Hegermann, Jan; Moergelin, Matthias; Bustamante, Jacinta; Nietert, Manuel Manfred; Martin, Ulrich; Tuemmler, Burkhard; Munder, Antje; Lachmann, Nico Share Save
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Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERIC-mediated monocyte activation Bohlen, Jonathan; Bagaric, Ivan; Vatovec, Taja; Ogishi, Masato; Ahmed, Syed F.; Cederholm, Axel; Buetow, Lori; Sobrino, Steicy; Le Floc'h, Corentin; Arango-Franco, Carlos A.; Seabra, Luis; Michelet, Marine; Barzaghi, Federica; Leardini, Davide; Saettini, Francesco; Vendemini, Francesca; Baccelli, Francesco; Catala, Albert; Gambineri, Eleonora; Veltroni, Marinella; de la Red, Purena Aguilar; Rice, Gillian I.; Consonni, Filippo; Berteloot, Laureline; Largeaud, Laetitia; Conti, Francesca; Roullion, Cecile; Masson, Cecile; Bessot, Boris; Seeleuthner, Yoann; Le Voyer, Tom; Rinchai, Darawan; Rosain, Jeremie; Neehus, Anna-Lena; Erazo-Borras, Lucia; Li, Hailun; Janda, Zarah; Cho, En-Jui; Muratore, Edoardo; Soudee, Camille; Laine, Candice; Delabesse, Eric; Goulvestre, Claire; Ma, Cindy S.; Puel, Anne; Tangye, Stuart G.; Andre, Isabelle; Bole-Feysot, Christine; Abel, Laurent; Erlacher, Miriam; Zhang, Shen-Ping; Beziat, Vivien; Lagresle-Peyrou, Chantal; Six, Emmanuelle; Pasquet, Marlene; Alsina, Laia; Aiuti, Alessandro; Zhang, Peng; Crow, Yanick J.; Landegren, Nils; Masetti, Riccardo; Huang, Danny T.; Casanova, Jean-Laurent; Bustamante, Jacinta Share Save
IL-7-dependent and -independent lineages of IL-7R-dependent human T cells Arango-Franco, Carlos A.; Ogishi, Masato; Unger, Susanne; Delmonte, Ottavia M.; Orrego, Julio Cesar; Yatim, Ahmad; Velasquez-Lopera, Margarita M.; Zea-Vera, Andres F.; Bohlen, Jonathan; Chbihi, Marwa; Fayand, Antoine; Sanchez, Juan Pablo; Rojas, Julian; Seeleuthner, Yoann; Le Voyer, Tom; Philippot, Quentin; Payne, Kathryn J.; Gervais, Adrian; Erazo-Borras, Lucia, V; Correa-Londono, Luis A.; Cederholm, Axel; Gallon-Duque, Alejandro; Goncalves, Pedro; Doisne, Jean-Marc; Horev, Liran; Charmeteau-de Muylder, Benedicte; Alvarez, Jesus A.; Arboleda, Diana M.; Perez-Zapata, Lizet; Vasquez-Echeverri, Estefania; Moncada-Velez, Marcela; Lopez, Juan A.; Caicedo, Yolanda; Palterer, Boaz; Patino, Pablo J.; Montoya, Carlos J.; Chaldebas, Matthieu; Zhang, Peng; Nguyen, Tina; Ma, Cindy S.; Jeljeli, Mohamed; Alzate, Juan F.; Cabarcas, Felipe; Khan, Taushif; Rinchai, Darawan; Pretet, Jean-Luc; Boisson, Bertrand; Marr, Nico; Ibrahim, Ruba; Molho-Pessach, Vered; Boisson-Dupuis, Stephanie; Kiritsi, Dimitra; Barata, Joao T.; Landegren, Nils; Neven, Benedicte; Abe, Laurent; Lisco, Andrea; Beziat, Vivien; Jouanguy, Emmanuelle; Bustamante, Jacinta; Di Santo, James P.; Tangye, Stuart G.; Notarangelo, Luigi D.; Cheynier, Remi; Natsuga, Ken; Arias, Andres A.; Franco, Jose Luis; Warnatz, Klaus; Casanova, Jean-Laurent; Puel, Anne Share Save
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases Rosain, Jeremie; Le Voyer, Tom; Liu, Xian; Gervais, Adrian; Polivka, Laura; Cederholm, Axel; Berteloot, Laureline; Parent, Audrey V.; Pescatore, Alessandra; Spinosa, Ezia; Minic, Snezana; Kiszewski, Ana Elisa; Tsumura, Miyuki; Thibault, Chloe; Azcoiti, Maria Esnaola; Martinovic, Jelena; Philippot, Quentin; Khan, Taushif; Marchal, Astrid; Charmeteau-De Muylder, Benedicte; Bizien, Lucy; Deswarte, Caroline; Hadjem, Lillia; Fauvarque, Marie-Odile; Dorgham, Karim; Eriksson, Daniel; Falcone, Emilia Liana; Puel, Mathilde; Uenal, Sinem; Geraldo, Amyrath; Le Floc'h, Corentin; Li, Hailun; Rheault, Sylvie; Muti, Christine; Bobrie-Moyrand, Claire; Welfringer-Morin, Anne; Fuleihan, Ramsay L.; Levy, Romain; Roelens, Marie; Gao, Liwei; Materna, Marie; Pellegrini, Silvia; Piemonti, Lorenzo; Catherinot, Emilie; Goffard, Jean-Christophe; Fekkar, Arnaud; Sacko-Sow, Aissata; Soudee, Camille; Boucherit, Soraya; Neehus, Anna-Lena; Has, Cristina; Huebner, Stefanie; Blanchard-Rohner, Geraldine; Amador-Borrero, Blanca; Utsumi, Takanori; Taniguchi, Maki; Tani, Hiroo; Izawa, Kazushi; Yasumi, Takahiro; Kanai, Sotaro; Migaud, Melanie; Aubart, Melodie; Lambert, Nathalie; Gorochov, Guy; Picard, Capucine; Soudais, Claire; L'Honneur, Anne-Sophie; Rozenberg, Flore; Milner, Joshua D.; Zhang, Shen-Ying; Vabres, Pierre; Trpinac, Dusan; Marr, Nico; Boddaert, Nathalie; Desguerre, Isabelle; Pasparakis, Manolis; Miller, Corey N.; Poziomczyk, Claudia S.; Abel, Laurent; Okada, Satoshi; Jouanguy, Emmanuelle; Cheynier, Remi; Zhang, Qian; Cobat, Aurelie; Beziat, Vivien; Boisson, Bertrand; Steffann, Julie; Fusco, Francesca; Ursini, Matilde Valeria; Hadj-Rabia, Smail; Bodemer, Christine; Bustamante, Jacinta; Luche, Herve; Puel, Anne; Courtois, Gilles; Bastard, Paul; Landegren, Nils; Anderson, Mark S.; Casanova, Jean-Laurent Share Save
IL-12 drives the differentiation of human T follicular regulatory cells Castano, Diana; Wang, Sidney; Atencio-Garcia, Segovia; Shields, Emily J.; Rico, Maria C.; Sharpe, Hannah; Bustamante, Jacinta; Feng, Allan; Le Coz, Carole; Romberg, Neil; Tobias, John W.; Utz, Paul J.; Henrickson, Sarah E.; Casanova, Jean-Laurent; Bonasio, Roberto; Locci, Michela Share Save
Safety of Obinutuzumab in Children With Autoimmune Encephalitis and Early B-Cell Repopulation on Rituximab Nguyen, Ai-Tien; Cotteret, Camille; Gins, Clarisse; Sarda, Eugenie; Durrleman, Chloe; Mesples, Bettina; Bustamante, Jacinta; Fayard, Claire; Cisternino, Salvatore; Desguerre, Isabelle; Aubart, Melodie Share Save
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Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis (vol 221, e20232387, 2024) Horesh, Michael E.; Martin-Fernandez, Marta; Gruber, Conor; Buta, Sofija; Le Voyer, Tom; Puzenat, Eve; Lesmana, Harry; Wu, Yiming; Richardson, Ashley; Stein, David; Hodeib, Stephanie; Youssef, Mariam; Kurowski, Jacob A.; Feuille, Elizabeth; Pedroza, Luis A.; Fuleihan, Ramsay L.; Haseley, Alexandria; Hovnanian, Alain; Quartier, Pierre; Rosain, Jeremie; Davis, Georgina; Mullan, Daniel; Stewart, O'Jay; Patel, Roosheel; Lee, Angelica E.; Rubinstein, Rebecca; Ewald, Leyla; Maheshwari, Nikhil; Rahming, Virginia; Chinn, Ivan K.; Lupski, James R.; Orange, Jordan S.; Sancho-Shimizu, Vanessa; Casanova, Jean-Laurent; Abul-Husn, Noura S.; Itan, Yuval; Milner, Joshua D.; Bustamante, Jacinta; Bogunovic, Dusan Share Save
Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review Khavandegar, Armin; Mahdaviani, Seyed Alireza; Zaki-Dizaji, Majid; Khalili-Moghaddam, Fereshteh; Ansari, Sarina; Alijani, Saba; Taherzadeh-Ghahfarrokhi, Nooshin; Mansouri, Davood; Casanova, Jean-Laurent; Bustamante, Jacinta; Jamee, Mahnaz Share Save
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis Horesh, Michael E.; Martin-Fernandez, Marta; Gruber, Conor; Buta, Sofija; Le Voyer, Tom; Puzenat, Eve; Lesmana, Harry; Wu, Yiming; Richardson, Ashley; Stein, David; Hodeib, Stephanie; Youssef, Mariam; Kurowski, Jacob A.; Feuille, Elizabeth; Pedroza, Luis A.; Fuleihan, Ramsay L.; Haseley, Alexandria; Hovnanian, Alain; Quartier, Pierre; Rosain, Jeremie; Davis, Georgina; Mullan, Daniel; Stewart, O'Jay; Patel, Roosheel; Lee, Angelica E.; Rubinstein, Rebecca; Ewald, Leyla; Maheshwari, Nikhil; Rahming, Virginia; Chinn, Ivan K.; Lupski, James R.; Orange, Jordan S.; Sancho-Shimizu, Vanessa; Casanova, Jean-Laurent; Abul-Husn, Noura S.; Itan, Yuval; Milner, Joshua D.; Bustamante, Jacinta; Bogunovic, Dusan Share Save
Helper T cell immunity in humans with inherited CD4 deficiency Guerin, Antoine; Moncada-Velez, Marcela; Jackson, Katherine; Ogishi, Masato; Rosain, Jeremie; Mancini, Mathieu; Langlais, David; Nunez, Andrea; Webster, Samantha; Goyette, Jesse; Khan, Taushif; Marr, Nico; Avery, Danielle T.; Rao, Geetha; Waterboer, Tim; Michels, Birgitta; Neves, Esmeralda; Morais, Catia Iracema; London, Jonathan; Mestrallet, Stephanie; Maire, Pierre Quartier Dit; Neven, Benedicte; Rapaport, Franck; Seeleuthner, Yoann; Lev, Atar; Simon, Amos J.; Montoya, Jorge; Barel, Ortal; Gomez-Rodriguez, Julio; Orrego, Julio C.; L'Honneur, Anne-Sophie; Soudee, Camille; Rojas, Jessica; Velez, Alejandra C.; Sereti, Irini; Terrier, Benjamin; Marin, Nancy; Garcia, Luis F.; Abel, Laurent; Boisson-Dupuis, Stephanie; Reis, Joel; Marinho, Antonio; Lisco, Andrea; Faria, Emilia; Goodnow, Christopher C.; Vasconcelos, Julia; Beziat, Vivien; Ma, Cindy S.; Somech, Raz; Casanova, Jean-Laurent; Bustamante, Jacinta; Franco, Jose Luis; Tangye, Stuart G. Share Save
Neutralizing IFN-γ autoantibodies are rare and in HLA-DRB1*15:02 or 16:02 individuals Peel, Jessica N.; Yang, Rui; Le Voyer, Tom; Gervais, Adrian; Rosain, Jeremie; Bastard, Paul; Behere, Anish; Cederholm, Axel; Bodansky, Aaron; Seeleuthner, Yoann; Conil, Clement; Ding, Jing-Ya; Lei, Wei-Te; Bizien, Lucy; Soudee, Camille; Migaud, Melanie; Ogishi, Masato; Yatim, Ahmad; Lee, Danyel; Bohlen, Jonathan; Perpoint, Thomas; Perez, Laura; Messina, Fernando; Genet, Roxana; Karkowski, Ludovic; Blot, Mathieu; Lafont, Emmanuel; Toullec, Laurie; Goulvestre, Claire; Mehlal-Sedkaoui, Souad; Sallette, Jerome; Martin, Fernando; Puel, Anne; Jouanguy, Emmanuelle; Anderson, Mark S.; Landegren, Nils; Tiberghien, Pierre; Abel, Laurent; Boisson-Dupuis, Stephanie; Bustamante, Jacinta; Ku, Cheng-Lung; Casanova, Jean-Laurent Share Save
Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency Rosain, Jeremie; Kiykim, Ayca; Michev, Alexandre; Kendir-Demirkol, Yasemin; Rinchai, Darawan; Peel, Jessica N.; Li, Hailun; Ocak, Suheyla; Ozdemir, Pinar Gokmirza; Le Voyer, Tom; Philippot, Quentin; Khan, Taushif; Neehus, Anna-Lena; Migaud, Melanie; Soudee, Camille; Boisson-Dupuis, Stephanie; Marr, Nico; Borghesi, Alessandro; Casanova, Jean-Laurent; Bustamante, Jacinta Share Save
A novel pediatric polycystic lung disease caused by CCR2 deficiency Neehus, Anna-Lena; Landekic, Marija; Rinchai, Darawan; Panikulam, Patricia; Philippot, Quentin; Le Voyer, Tom; Ogishi, Masato; Rosain, Jeremie; Momenilandi, Mana; Franco, Carlos Andres Arango; Martin-Fernandez, Marta; Khan, Taushif; Bohlen, Jonathan; Manry, Jeremy; Han, Ji Eun; Deslys, Alexandre; Gajardo-Carrasco, Tania; Soudee, Camille; Migaud, Melanie; Seeleuthner, Yoann; Nikolouli, Eirini; Seyedpour, Simin; Begueret, Hugues; Brouzes, Chantal; Vargas, Pablo; Lachmann, Nico; Boire, Raphael; Marr, Nico; Bugonovic, Dusan; Modaresi, Mohammadreza; Nogee, Larry; Craven, Daniel; Mohamadzadeh, Iraj; Rezai, Nima; Shahrooei, Mohammad; Boisson-Dupuis, Stephanie; Sepulveda, Fernando; Beziat, Vivien; Aladjidi, Nathalie; Abel, Laurent; Gros, Philippe; Malo, Danielle; Young, Lisa; Deterding, Robin; Deutsch, Gail; Carey, Brenna; Trapnell, Bruce; Casanova, Jean-Laurent; Bustamante, Jacinta Share Save
Inborn Errors of Immunity-the Sri Lankan Experience 2010-2022 Dasanayake, Dhanushka; Bustamante, Jacinta; Boisson-Dupuis, Stephanie; Karunatilleke, Chandima; Thambyrajah, James; Puel, Anne; Chan, Koon Wing; Doffinger, Rainer; Lau, Yu-Lung; Casanova, Jean-Laurent; Kumararatne, Dinakantha; de Silva, Rajiva Share Save
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