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收藏Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases色素失禁是胸腺发育不良，I型ifn自身抗体和病毒性疾病的基础
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 分享 收藏 Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupusDavid, Clemence; Arango-Franco, Carlos A.; Badonyi, Mihaly; Fouchet, Julien; Rice, Gillian I.; Didry-Barca, Blaise; Maisonneuve, Lucie; Seabra, Luis; Kechiche, Robin; Masson, Cecile; Cobat, Aurelie; Abel, Laurent; Talouarn, Estelle; Beziat, Vivien; Deswarte, Caroline; Livingstone, Katie; Paul, Carle; Malik, Gulshan; Ross, Alison; Adam, Jane; Walsh, Jo; Kumar, Sathish; Bonnet, Damien; Bodemer, Christine; Bader-Meunier, Brigitte; Marsh, Joseph A.; Casanova, Jean-Laurent; Crow, Yanick J.; Manoury, Benedicte; Fremond, Marie-Louise; Bohlen, Jonathan; Lepelley, Alice 分享 收藏 Multi-target measurable residual disease assessed by error-corrected sequencing in patients with acute myeloid leukemia: An ALFA studyHirsch, Pierre; Lambert, Jerome; Bucci, Maxime; Deswarte, Caroline; Boudry, Augustin; Lambert, Juliette; Fenwarth, Laurene; Micol, Jean-Baptiste; Terre, Christine; Celli-Lebras, Karine; Thomas, Xavier; Dombret, Herve; Duployez, Nicolas; Preudhomme, Claude; Itzykson, Raphael; Delhommeau, Francois 分享 收藏 New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome (Jun 2023,10.1007/s10875-023-01517-4)Arlabosse, Tiphaine; Materna, Marie; Riccio, Orbicia; Schnider, Caroline; Angelini, Federica; Perreau, Matthieu; Rochat, Isabelle; Superti-Furga, Andrea; Campos-Xavier, Belinda; Heritier, Sebastien; Pereira, Anais; Deswarte, Caroline; Levy, Romain; Distefano, Marco; Bustamante, Jacinta; Roelens, Marie; Borie, Raphael; Le Brun, Mathilde; Crestani, Bruno; Casanova, Jean-Laurent; Puel, Anne; Hofer, Michael; Fieschi, Claire; Theodoropoulou, Katerina; Beziat, Vivien; Candotti, Fabio 分享 收藏 New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE SyndromeArlabosse, Tiphaine; Materna, Marie; Riccio, Orbicia; Schnider, Caroline; Angelini, Federica; Perreau, Matthieu; Rochat, Isabelle; Superti-Furga, Andrea; Campos-Xavier, Belinda; Heritier, Sebastien; Pereira, Anais; Deswarte, Caroline; Levy, Romain; Distefano, Marco; Bustamante, Jacinta; Roelens, Marie; Borie, Raphael; Le Brun, Mathilde; Crestani, Bruno; Casanova, Jean-Laurent; Puel, Anne; Hofer, Michael; Fieschi, Claire; Theodoropoulou, Katerina; Beziat, Vivien; Candotti, Fabio 分享 收藏 A partial form of inherited human USP18 deficiency underlies infection and inflammationMartin-Fernandez, Marta; Buta, Sofija; Le Voyer, Tom; Li, Zhi; Dynesen, Lasse Toftdal; Vuillier, Francoise; 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, Jeremie; Boddaert, Nathalie; Bousfiha, Aziz; Crow, Yanick J.; Jankovic, Dragana; Sher, Alan; Casanova, Jean-Laurent; Pellegrini, Sandra; Bustamante, Jacinta; Bogunovic, Dusan 分享 收藏 Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agentsLevy, Romain; Langlais, David; Beziat, Vivien; Rapaport, Franck; Rao, Geetha; Lazarov, Tomi; Bourgey, Mathieu; Zhou, Yu J.; Briand, Coralie; Moriya, Kunihiko; Ailal, Fatima; Avery, Danielle T.; Markle, Janet; Lim, Ai Ing; Ogishi, Masato; Yang, Rui; Pelham, Simon; Emam, Mehdi; Migaud, Melanie; Deswarte, Caroline; Habib, Tanwir; Saraiva, Luis R.; Moussa, Eman A.; Guennoun, Andrea; Boisson, Bertrand; Belkaya, Serkan; Martinez-Barricarte, Ruben; Rosain, Jeremie; Belkadi, Aziz; Breton, Sylvain; Payne, Kathryn; Benhsaien, Ibtihal; Plebani, Alessandro; Lougaris, Vassilios; Di Santo, James P.; Neven, Benedicte; Abel, Laurent; Ma, Cindy S.; Bousfiha, Ahmed Aziz; Marr, Nico; Bustamante, Jacinta; Liu, Kang; Gros, Philippe; Geissmann, Frederic; Tangye, Stuart G.; Casanova, Jean-Laurent; Puel, Anne 分享 收藏 Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasmsPegliasco, Jean; Hirsch, Pierre; Marzac, Christophe; Isnard, Francoise; Meniane, Jean-Come; Deswarte, Caroline; Pellet, Philippe; Lemaitre, Celine; Leroy, Gwendoline; Rabadan Moraes, Graciela; Guermouche, Helene; Schmaltz-Panneau, Barbara; Pasquier, Florence; Colas, Chrystelle; Benusiglio, Patrick R.; Bera, Odile; Bourhis, Jean-Henri; Brissot, Eolia; Caron, Olivier; Chraibi, Samy; Cony-Makhoul, Pascale; Delaunay-Darivon, Christine; Lapusan, Simona; de Fontbrune, Flore Sicre; Fuseau, Pascal; Najman, Albert; Vainchenker, William; Delhommeau, Francois; Micol, Jean-Baptiste; Plo, Isabelle; Bellanne-Chantelot, Christine 分享 收藏 Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical PenetranceOleaga-Quintas, Carmen; de Oliveira-Junior, Edgar Borges; Rosain, Jeremie; Rapaport, Franck; Deswarte, Caroline; Guerin, Antoine; Sajjath, Sairaj Munavar; Zhou, Yu Jerry; Marot, Stephane; Lozano, Claire; Branco, Lidia; Fernandez-Hidalgo, Nuria; Lew, Dukhee Betty; Brunel, Anne-Sophie; Thomas, Caroline; Launay, Elise; Arias, Andres Augusto; Cuffel, Alexis; Monjo, Vanesa Cunill; Neehus, Anna-Lena; Marques, Laura; Roynard, Manon; Moncada-Velez, Marcela; Gerceker, Bengu; Colobran, Roger; Vigue, Marie-Gabrielle; Lopez-Herrera, Gabriela; Berron-Ruiz, Laura; Mendez, Nora Hilda Segura; O'Farrill Romanillos, Patricia; Le Voyer, Tom; Puel, Anne; Bellanne-Chantelot, Christine; Ramirez, Kacy A.; Lorenzo-Diaz, Lazaro; Alejo, Noe Ramirez; de Diego, Rebeca Perez; Condino-Neto, Antonio; Mellouli, Fethi; Rodriguez-Gallego, Carlos; Witte, Torsten; Restrepo, Jose Franco; Jobim, Mariana; Boisson-Dupuis, Stephanie; Jeziorski, Eric; Fieschi, Claire; Vogt, Guillaume; Donadieu, Jean; Pasquet, Marlene; Vasconcelos, Julia; Ardeniz, Fatma Omur; Martinez-Gallo, Monica; Campos, Regis A.; Jobim, Luiz Fernando; Martinez-Barricarte, Ruben; Liu, Kang; Cobat, Aurelie; Abel, Laurent; Casanova, Jean-Laurent; Bustamante, Jacinta 分享 收藏 High prevalence of clonal hematopoiesis in the blood and bone marrow of healthy volunteersGuermouche, Helene; Ravalet, Noemie; Gallay, Nathalie; Deswarte, Caroline; Foucault, Amelie; Beaud, Jenny; Rault, Emmanuelle; Saindoy, Emeline; Lachot, Sebastien; Martignoles, Jean-Alain; Gissot, Valerie; Suner, Ludovic; Gyan, Emmanuel; Delhommeau, Francois; Herault, Olivier; Hirsch, Pierre 分享 收藏 Inherited human IFN-γ deficiency underlies mycobacterial disease遗传性人ifn-γ 缺乏是分枝杆菌病的基础Kerner, Gaspard; Rosain, Jeremie; Guerin, Antoine; Al-Khabaz, Ahmad; Oleaga-Quintas, Carmen; Rapaport, Franck; Massaad, Michel J.; Ding, Jing-Ya; Khan, Taushif; Al Ali, Fatima; Rahman, Mahbuba; Deswarte, Caroline; Martinez-Barricarte, Ruben; Geha, Raif S.; Jeanne-Julien, Valentine; Garcia, Diane; Chi, Chih-Yu; Yang, Rui; Roynard, Manon; Fleckenstein, Bernhard; Rozenberg, Flore; Boisson-Dupuis, Stephanie; Ku, Cheng-Lung; Seeleuthner, Yoann; Beziat, Vivien; Marr, Nico; Abel, Laurent; Al-Herz, Waleed; Casanova, Jean-Laurent; Bustamante, Jacinta 分享 收藏 Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous DiseaseBlancas-Galicia, Lizbeth; Santos-Chavez, Eros; Deswarte, Caroline; Mignac, Quentin; Medina-Vera, Isabel; Leon-Lara, Ximena; Roynard, Manon; Scheffler-Mendoza, Selma C.; Rioja-Valencia, Ricardo; Alvirde-Ayala, Alexandra; Reyes, Saul O. Lugo; Staines-Boone, Tamara; Garcia-Campos, Jorge; Saucedo-Ramirez, Omar J.; Del-Rio Navarro, Blanca E.; Zamora-Chavez, Antonio; Lopez-Larios, Arturo; Garcia-Pavon-Osorio, Susana; Melgoza-Arcos, Eugenia; Canseco-Raymundo, Maria R.; Mogica-Martinez, Dolores; Venancio-Hernandez, Marco; Pacheco-Rosas, Daniel; Pedraza-Sanchez, Sigifredo; Guevara-Cruz, Martha; Saracho-Weber, Federico; Gamez-Gonzalez, Berenise; Wakida-Kuzunoki, Guillermo; Moran-Mendoza, Ana R.; Macias-Robles, Ana P.; Ramirez-Rivera, Roselia; Vargas-Camano, Eugenia; Zarate-Hernandez, Carmen; Gomez-Tello, Hector; Ramirez-Sanchez, Emmanuel; Ruiz-Hernandez, Fredy; Ramos-Lopez, Domingo; Acuna-Martinez, Hector; Garcia-Cruz, Maria L.; Roman-Jimenez, Maria G.; Gonzalez-Villarreal, Marina G.; Alvarez-Cardona, Aristoteles; Llamas-Guillen, Beatriz A.; Cuellar-Rodriguez, Jennifer; Olaya-Vargas, Alberto; Ramirez-Uribe, Nideshda; Boisson-Dupuis, Stephanie; Casanova, Jean-Laurent; Espinosa-Rosales, Francisco J.; Serafin-Lopez, Jeanet; Yamazaki-Nakashimada, Marco; Espinosa-Padilla, Sara; Bustamante, Jacinta 分享 收藏 LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 DeficiencyRosain, Jeremie; Deswarte, Caroline; Hancioglu, Gonca; Oleaga-Quintas, Carmen; Kutlug, Seyhan; Kartal, Ibrahim; Kuzu, Isinsu; Toullec, Laurie; Tusseau, Maud; Casanova, Jean-Laurent; Yildiran, Alisan; Bustamante, Jacinta 分享 收藏 IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosisHumblet-Baron, Stephanie; Franckaert, Dean; Dooley, James; Ailal, Fatima; Bousfiha, Aziz; Deswarte, Caroline; Oleaga-Quintas, Carmen; Casanova, Jean-Laurent; Bustamante, Jacinta; Liston, Adrian 分享 收藏 分享 收藏 Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial DiseaseSarrafzadeh, Shokouh Azam; Nourizadeh, Maryam; Mahloojirad, Maryam; Fazlollahi, Mohammad Reza; Shoormasti, Raheleh Shokouhi; Badalzadeh, Mohsen; Deswarte, Caroline; Casanova, Jean-Laurent; Pourpak, Zahra; Bustamante, Jacinta; Moin, Mostafa 分享 收藏 Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant常见TYK2错义变体纯合的人的结核病和IL-23-dependent ifn-γ 免疫力受损Boisson-Dupuis, Stephanie; Ramirez-Alejo, Noe; Li, Zhi; Patin, Etienne; Rao, Geetha; Kerner, Gaspard; Lim, Che Kang; Krementsov, Dimitry N.; Hernandez, Nicholas; Ma, Cindy S.; Zhang, Qian; Markle, Janet; Martinez-Barricarte, Ruben; Payne, Kathryn; Fisch, Robert; Deswarte, Caroline; Halpern, Joshua; Bouaziz, Matthieu; Mulwa, Jeanette; Sivanesan, Durga; Lazarov, Tomi; Naves, Rodrigo; Garcia, Patricia; Itan, Yuval; Boisson, Bertrand; Checchi, Alix; Jabot-Hanin, Fabienne; Cobat, Aurelie; Guennoun, Andrea; Jackson, Carolyn C.; Pekcan, Sevgi; Caliskaner, Zafer; Inostroza, Jaime; Costa-Carvalho, Beatriz Tavares; Tavares de Albuquerque, Jose Antonio; Garcia-Ortiz, Humberto; Orozco, Lorena; Ozcelik, Tayfun; Abid, Ahmed; Rhorfi, Ismail Abderahmani; Souhi, Hicham; Amrani, Hicham Naji; Zegmout, Adil; Geissmann, Frederic; Michnick, Stephen W.; Muller-Fleckenstein, Ingrid; Fleckenstein, Bernhard; Puel, Anne; Ciancanelli, Michael J.; Marr, Nico; Abolhassani, Hassan; Elvira Balcells, Maria; Condino-Neto, Antonio; Strickler, Alexis; Abarca, Katia; Teuscher, Cory; Ochs, Hans D.; Reisli, Ismail; Sayar, Esra H.; El-Baghdadi, Jamila; Bustamante, Jacinta; Hammarstrom, Lennart; Tangye, Stuart G.; Pellegrini, Sandra; Quintana-Murci, Lluis; Abel, Laurent; Casanova, Jean-Laurent 分享 收藏 Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23Martinez-Barricarte, Ruben; Markle, Janet G.; Ma, Cindy S.; Deenick, Elissa K.; Ramirez-Alejo, Noe; Mele, Federico; Latorre, Daniela; Mandaviani, Seyed Alireza; Aytekin, Caner; Mansouri, Davood; Bryant, Vanessa L.; Jabot-Hanin, Fabienne; Deswarte, Caroline; Nieto-Patlan, Alejandro; Surace, Laura; Kerner, Gaspard; Itan, Yuval; Jovic, Sandra; Avery, Danielle T.; Wong, Natalie; Rao, Geetha; Patin, Etienne; Okada, Satoshi; Bigio, Benedetta; Boisson, Bertrand; Rapaport, Franck; Seeleuthner, Yoann; Schmidt, Monika; Ikinciogullari, Aydan; Dogu, Figen; Tanir, Gonul; Tabarsi, Payam; Bloursaz, Mohammed Reza; Josephs, Julia K.; Heer, Avneet; Kong, Xiao-Fei; Migaud, Melanie; Lazarov, Tomi; Geissmann, Frederic; Fleckenstein, Bernhard; Arlehamn, Cecilia Lindestam; Sette, Alessandro; Puel, Anne; Emile, Jean-Francois; van de Vosse, Esther; Quintana-Murci, Lluis; Di Santo, James P.; Abel, Laurent; Boisson-Dupuis, Stephanie; Bustamante, Jacinta; Tangye, Stuart G.; Sallusto, Federica; Casanova, Jean-Laurent 分享 收藏 
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