未登录Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency
Ogishi, Masato; Augusto Arias, Andres; Yang, Rui; Han, Ji Eun; Zhang, Peng; Rinchai, Darawan; Halpern, Joshua; Mulwa, Jeanette; Keating, Narelle; Chrabieh, Maya; Laine, Candice; Seeleuthner, Yoann; Ramirez-Alejo, Noe; Nekooie-Marnany, Nioosha; Guennoun, Andrea; Muller-Fleckenstein, Ingrid; Fleckenstein, Bernhard; Kilic, Sara S.; Minegishi, Yoshiyuki; Ehl, Stephan; Kaiser-Labusch, Petra; Kendir-Demirkol, Yasemin; Rozenberg, Flore; Errami, Abderrahmane; Zhang, Shen-Ying; Zhang, Qian; Bohlen, Jonathan; Puel, Anne; Jouanguy, Emmanuelle; Pourmoghaddas, Zahra; Bakhtiar, Shahrzad; Willasch, Andre M.; Horneff, Gerd; Llanora, Genevieve; Shek, Lynette P.; Chai, Louis Y. A.; Tay, Sen Hee; Rahimi, Hamid H.; Mahdaviani, Seyed Alireza; Nepesov, Serdar; Bousfiha, Aziz A.; Erdeniz, Emine Hafize; Karbuz, Adem; Marr, Nico; Navarrete, Carmen; Adeli, Mehdi; Hammarstrom, Lennart; Abolhassani, Hassan; Parvaneh, Nima; Al Muhsen, Saleh; Alosaimi, Mohammed F.; Alsohime, Fahad; Nourizadeh, Maryam; Moin, Mostafa; Arnaout, Rand; Alshareef, Saad; El-Baghdadi, Jamila; Genel, Ferah; Sherkat, Roya; Kiykim, Ayca; Yucel, Esra; Keles, Sevgi; Bustamante, Jacinta; Abel, Laurent; Casanova, Jean-Laurent; Boisson-Dupuis, Stephanie .png)
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收藏High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency人类遗传性t-bet缺乏症的高Th2细胞因子水平和上呼吸道炎症Yang, Rui; Weisshaar, Marc; Mele, Federico; Benhsaien, Ibtihal; Dorgham, Karim; Han, Jing; Croft, Carys A.; Notarbartolo, Samuele; Rosain, Jeremie; 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 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 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 EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency Caused by STK4 DeficiencyEBV阴性淋巴瘤和自身免疫性淋巴增生综合征样表型扩展了STK4缺陷引起的原发性免疫缺陷的临床谱Schipp, Cyrill; Schluetermann, David; Hoenscheid, Andrea; Nabhani, Schafiq; Hoell, Jessica; Oommen, Prasad T.; Ginzel, Sebastian; Fleckenstein, Bernhard; Stork, Bjorn; Borkhardt, Arndt; Stepensky, Polina; Fischer, Ute 分享 收藏 ZNF341 controls STAT3 expression and thereby immunocompetenceFrey-Jakobs, Stefanie; Hartberger, Julia M.; Fliegauf, Manfred; Bossen, Claudia; Wehmeyer, Magdalena L.; Neubauer, Johanna C.; Bulashevska, Alla; Proietti, Michele; Froebel, Philipp; Noeltner, Christina; Yang, Linlin; Rojas-Restrepo, Jessica; Langer, Niko; Winzer, Sandra; Engelhardt, Karin R.; Glocker, Cristina; Pfeifer, Dietmar; Klein, Adi; Schaffer, Alejandro A.; Lagovsky, Irina; Lachover-Roth, Idit; Beziat, Vivien; Puel, Anne; Casanova, Jean-Laurent; Fleckenstein, Bernhard; Weidinger, Stephan; Kilic, Sara S.; Garty, Ben-Zion; Etzioni, Amos; Grimbacher, Bodo 分享 收藏 A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activityBeziat, Vivien; Li, Juan; Lin, Jian-Xin; Ma, Cindy S.; Li, Peng; Bousfiha, Aziz; Pellier, Isabelle; Zoghi, Samaneh; Baris, Safa; Keles, Sevgi; Gray, Paul; Du, Ning; Wang, Yi; Zerbib, Yoann; Levy, Romain; Leclercq, Thibaut; About, Fredegonde; Lim, Ai Ing; Rao, Geetha; Payne, Kathryn; Pelham, Simon J.; Avery, Danielle T.; Deenick, Elissa K.; Pillay, Bethany; Chou, Janet; Guery, Romain; Belkadi, Aziz; Guerin, Antoine; Migaud, Melanie; Rattina, Vimel; Ailal, Fatima; Benhsaien, Ibtihal; Bouaziz, Matthieu; Habib, Tanwir; Chaussabel, Damien; Marr, Nico; El-Benna, Jamel; Grimbacher, Bodo; Wargon, Orli; Bustamante, Jacinta; Boisson, Bertrand; Mueller-Fleckenstein, Ingrid; Fleckenstein, Bernhard; Chandesris, Marie-Olivia; Titeux, Matthias; Fraitag, Sylvie; Alyanakian, Marie-Alexandra; Leruez-Ville, Marianne; Picard, Capucine; Meyts, Isabelle; Di Santo, James P.; Hovnanian, Alain; Somer, Ayper; Ozen, Ahmet; Rezaei, Nima; Chatila, Talal A.; Abel, Laurent; Leonard, Warren J.; Tangye, Stuart G.; Puel, Anne; Casanova, Jean-Laurent 分享 收藏 Study on the Impact of CMV-Encephalopathy on the Survival of Brain Cancer Patients Undergoing Radio(Chemo) therapy of the BrainGoerig, N. L.; Frey, B.; Korn, K.; Fleckenstein, B.; Ueberla, K.; Schmidt, M. A.; Engelhorn, T.; Doerfler, A.; Eyuepoglu, I.; Merkel, A.; Ruehle, P. F.; Putz, F.; Semrau, S.; Gaipl, U. S.; Fietkau, R. 分享 收藏 Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutationsWang, Yi; Ma, Cindy S.; Ling, Yun; Bousfiha, Aziz; Camcioglu, Yildiz; Jacquot, Serge; Payne, Kathryn; Crestani, Elena; Roncagalli, Romain; Belkadi, Aziz; Kerner, Gaspard; Lorenzo, Lazaro; Deswarte, Caroline; Chrabieh, Maya; Patin, Etienne; Vincent, Quentin B.; Mueller-Fleckenstein, Ingrid; Fleckenstein, Bernhard; Ailal, Fatima; Quintana-Murci, Lluis; Fraitag, Sylvie; Alyanakian, Marie-Alexandra; Leruez-Ville, Marianne; Picard, Capucine; Puel, Anne; Bustamante, Jacinta; Boisson-Dupuis, Stephanie; Malissen, Marie; Malissen, Bernard; Abel, Laurent; Hovnanian, Alain; Notarangelo, Luigi D.; Jouanguy, Emmanuelle; Tangye, Stuart G.; Beziat, Vivien; Casanova, Jean-Laurent 分享 收藏 Fatal Lymphoproliferative Disease in Two Siblings Lacking Functional FAAP24Daschkey, Svenja; Bienemann, Kirsten; Schuster, Volker; Kreth, Hans Wolfgang; Linka, Rene Martin; Hoenscheid, Andrea; Fritz, Gerhard; Johannes, Christian; Fleckenstein, Bernhard; Kempkes, Bettina; Gombert, Michael; Ginzel, Sebastian; Borkhardt, Arndt 分享 收藏 Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humansSchipp, Cyrill; Nabhani, Schafiq; Bienemann, Kirsten; Simanovsky, Natalia; Kfir-Erenfeld, Shlomit; Assayag-Asherie, Nathalie; Oommen, Prasad T.; Revel-Vilk, Shoshana; Hoenscheid, Andrea; Gombert, Michael; Ginzel, Sebastian; Schaefer, Daniel; Laws, Hans-Juergen; Yefenof, Eitan; Fleckenstein, Bernhard; Borkhardt, Arndt; Stepensky, Polina; Fischer, Ute 分享 收藏 Frequent occurrence of therapeutically reversible CMV-associated encephalopathy during radiotherapy of the brainGoerig, Nicole L.; Frey, Benjamin; Korn, Klaus; Fleckenstein, Bernhard; Ueberla, Klaus; Schmidt, Manuel A.; Doerfler, Arnd; Engelhorn, Tobias; Eyuepoglu, Ilker; Ruehle, Paul F.; Putz, Florian; Semrau, Sabine; Gaipl, Udo S.; Fietkau, Rainer 分享 收藏 Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndromeKreins, Alexandra Y.; Ciancanelli, Michael J.; Okada, Satoshi; Kong, Xiao-Fei; Ramirez-Alejo, Noe; Kilic, Sara Sebnem; El Baghdadi, Jamila; Nonoyama, Shigeaki; Mahdaviani, Seyed Alireza; Ailal, Fatima; Bousfiha, Aziz; Mansouri, Davood; Nievas, Elma; Ma, Cindy S.; Rao, Geetha; Bernasconi, Andrea; Kuehn, Hye Sun; Niemela, Julie; Stoddard, Jennifer; Deveau, Paul; Cobat, Aurelie; El Azbaoui, Safa; Sabri, Ayoub; Lim, Che Kang; Sundin, Mikael; Avery, Danielle T.; Halwani, Rabih; Grant, Audrey V.; Boisson, Bertrand; Bogunovic, Dusan; Itan, Yuval; Moncada-Velez, Marcela; Martinez-Barricarte, Ruben; Migaud, Melanie; Deswarte, Caroline; Alsina, Laia; Kotlarz, Daniel; Klein, Christoph; Muller-Fleckenstein, Ingrid; Fleckenstein, Bernhard; Cormier-Daire, Valerie; Rose-John, Stefan; Picard, Capucine; Hammarstrom, Lennart; Puel, Anne; Al-Muhsen, Saleh; Abel, Laurent; Chaussabel, Damien; Rosenzweig, Sergio D.; Minegishi, Yoshiyuki; Tangye, Stuart G.; Bustamante, Jacinta; Casanova, Jean-Laurent; Boisson-Dupuis, Stephanie 分享 收藏 Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like diseaseNabhani, Schafiq; Ginzel, Sebastian; Miskin, Hagit; Revel-Vilk, Shoshana; Harlev, Dan; Fleckenstein, Bernhard; Hoenscheid, Andrea; Oommen, Prasad T.; Kuhlen, Michaela; Thiele, Ralf; Laws, Hans-Juergen; Borkhardt, Arndt; Stepensky, Polina; Fischer, Ute 分享 收藏 分享 收藏 分享 收藏 Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levelsSassi, Atfa; Lazaroski, Sandra; Wu, Gang; Haslam, Stuart M.; Fliegauf, Manfred; Mellouli, Fethi; Patiroglu, Turkan; Unal, Ekrem; Ozdemir, Mehmet Akif; Jouhadi, Zineb; Khadir, Khadija; Ben-Khemis, Leila; Ben-Ali, Meriem; Ben-Mustapha, Imen; Borchani, Lamia H.; Pfeifer, Dietmar; Jakob, Thilo; Khemiri, Monia; Asplund, A. Charlotta; Gustafsson, Manuela O.; Lundin, Karin E.; Falk-Soerqvist, Elin; Moens, Lotte N.; Gungor, Hatice Eke; Engelhardt, Karin R.; Dziadzio, Magdalena; Stauss, Hans; Fleckenstein, Bernhard; Meier, Rebecca; Prayitno, Khairunnadiya; Maul-Pavicic, Andrea; Schaffer, Sandra; Rakhmanov, Mirzokhid; Henneke, Philipp; Kraus, Helene; Eibel, Hermann; Koelsch, Uwe; Nadifi, Sellama; Nilsson, Mats; Bejaoui, Mohamed; Schaeffer, Alejandro A.; Smith, C. I. Edvard; Dell, Anne; Barbouche, Mohamed-Ridha; Grimbacher, Bodo 分享 收藏 Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhoodByun, Minji; Ma, Cindy S.; Akcay, Arzu; Pedergnana, Vincent; Palendira, Umaimainthan; Myoung, Jinjong; Avery, Danielle T.; Liu, Yifang; Abhyankar, Avinash; Lorenzo, Lazaro; Schmidt, Monika; Lim, Hye Kyung; Cassar, Olivier; Migaud, Melanie; Rozenberg, Flore; Canpolat, Nur; Aydogan, Gonul; Fleckenstein, Bernhard; Bustamante, Jacinta; Picard, Capucine; Gessain, Antoine; Jouanguy, Emmanuelle; Cesarman, Ethel; Olivier, Martin; Gros, Philippe; Abel, Laurent; Croft, Michael; Tangye, Stuart G.; Casanova, Jean-Laurent 分享 收藏 Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseasesLinka, R. M.; Risse, S. L.; Bienemann, K.; Werner, M.; Linka, Y.; Krux, F.; Synaeve, C.; Deenen, R.; Ginzel, S.; Dvorsky, R.; Gombert, M.; Halenius, A.; Hartig, R.; Helminen, M.; Fischer, A.; Stepensky, P.; Vettenranta, K.; Koehrer, K.; Ahmadian, M. R.; Laws, H-J; Fleckenstein, B.; Jumaa, H.; Latour, S.; Schraven, B.; Borkhardt, A. 分享 收藏 
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