未登录 Successful Treatment of POLD1 Deficiency With HSCT: Report of Two Years' Experience HSCT成功治疗POLD1缺乏症：两年经验报告 Keles, Sevgi; Uygun, Vedat; Karaselek, Mehmet Ali; Kuccukturk, Serkan; Dogar, Oznur; Satirtav, Gunhal; Celik, Seyma Celikbilek; Feyzioglu, Bahadir; Guner, Sukru; Reisli, Ismail; Karasu, Gulsun; Yesilipek, Akif 分享 收藏
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A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity 显性人类IFNAR1缺乏症的常见形式会损害ifn-α 和-ω，但不会损害ifn-β 依赖性免疫 Al Qureshah, Fahd; Le Pen, Jeremie; de Weerd, Nicole A.; Moncada-Velez, Marcela; Materna, Marie; Lin, Daniel C.; Milisavljevic, Baptiste; Vianna, Fernanda; Bizien, Lucy; Lorenzo, Lazaro; Lecuit, Marc; Pommier, Jean-David; Keles, Sevgi; Ozcelik, Tayfun; Pedraza-Sanchez, Sigifredo; de Prost, Nicolas; El Zein, Loubna; Hammoud, Hassan; Ng, Lisa F. P.; Halwani, Rabih; Saheb Sharif-Askari, Narjes; Lau, Yu Lung; Tam, Anthony R.; Singh, Neha; Bhattad, Sagar; Berkun, Yackov; Chantratita, Wasun; Aguilar-Lopez, Raul; Shahrooei, Mohammad; Abel, Laurent; Bastard, Paul; Jouanguy, Emmanuelle; Beziat, Vivien; Zhang, Peng; Rice, Charles M.; Cobat, Aurelie; Zhang, Shen-Ying; Hertzog, Paul J.; Casanova, Jean-Laurent; Zhang, Qian 分享 收藏
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye (vol 44, 157, 2024) 通过全外显子组测序对临床诊断为先天性免疫缺陷的患者进行遗传评估: 来自t ü rkiye免疫缺陷专业研究中心的结果 (第44卷，157，2024) Erman, Baran; Aba, Umran; Ipsir, Canberk; Pehlivan, Damla; Aytekin, Caner; Cildir, Gokhan; Cicek, Begum; Bozkurt, Ceren; Tekeoglu, Sidem; Kaya, Melisa; Aydogmus, Cigdem; Cipe, Funda; Sucak, Gulsan; Eltan, Sevgi Bilgic; Ozen, Ahmet; Baris, Safa; Karakoc-Aydiner, Elif; Kiykim, Ayca; Karaatmaca, Betul; Kose, Hulya; Uygun, Dilara Fatma Kocacik; Celmeli, Fatih; Arikoglu, Tugba; Ozcan, Dilek; Keskin, Ozlem; Arik, Elif; Aytekin, Elif Soyak; Cesur, Mahmut; Kucukosmanoglu, Ercan; Kilic, Mehmet; Yuksek, Mutlu; Bicakci, Zafer; Esenboga, Saliha; Ayvaz, Deniz cagdas; Sefer, Asena Pinar; Guner, Sukrue Nail; Keles, Sevgi; Reisli, Ismail; Musabak, Ugur; Demirbas, Nazli Deveci; Haskologlu, Sule; Kilic, Sara Sebnem; Metin, Ayse; Dogu, Figen; Ikinciogullari, Aydan; Tezcan, Ilhan 分享 收藏
Variable clinical presentation of hypomorphic DCLRE1C deficiency from childhood to adulthood Hazar, Esra; Karaselek, Mehmet Ali; Kapakli, Hasan; Dogar, Oznur; Kuccukturk, Serkan; Uygun, Vedat; Artac, Hasibe; Findik, Sidika; Sahin, Ali; Arslan, Sevket; Guner, Sukru; Reisli, Ismail; Keles, Sevgi 分享 收藏
Newborn screening for SCID: the very first prospective pilot study from Türkiye SCID的新生儿筛查: 来自t ü rkiye的第一个前瞻性试点研究 Haskologlu, Sule; Kocak, Senem; Tufan, Lale Satiroglu; Aksoy, Fethiye Eken; Bastug, Dilan; Oner, Deniz Aslar; Islamoglu, Candan; Baskin, Kubra; Esenboga, Saliha; Acican, Deniz; Ceylaner, Serdar; Guner, Sukru Nail; Keles, Sevgi; Cagdas, Deniz; Reisli, Ismail; Tezel, Basak; Dogu, Figen; Tezcan, Ilhan; Ikinciogullari, Aydan 分享 收藏
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MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort MHC II类缺陷: 大型多中心队列的临床，免疫学和遗传学见解 Koksal, Zeynep Gulec; Eltan, Sevgi Bilgic; Topyildiz, Ezgi; Sezer, Ahmet; Keles, Sevgi; Celik, Figen Celebi; Kont, Aylin Ozhan; Karaaslan, Betul Gemici; Sefer, Asena Pinar; Karali, Zuhal; Arik, Elif; Yucel, Esra Ozek; Akcal, Omer; Karakurt, Leman Tuba; Altunbas, Melek Yorgun; Yalcin, Koray; Uygun, Vedat; Ozek, Gulcihan; Babayeva, Royala; Aydogmus, Cigdem; Ozcan, Dilek; Cavkaytar, Ozlem; Keskin, Ozlem; Kilic, Sara Sebnem; Kiykim, Ayca; Arikoglu, Tugba; Genel, Ferah; Gulez, Nesrin; Guner, Sukru Nail; Karaca, Neslihan Edeer; Reisli, Ismail; Kutukculer, Necil; Altintas, Derya Ufuk; Ozen, Ahmet; Aydiner, Elif Karakoc; Baris, Safa 分享 收藏
Regulation of MYC by CARD14 in human epithelium is a determinant of epidermal homeostasis and disease Devore, Stanley B.; Schuetz, Matthew; Alvey, Lauren; Lujan, Henry; Ochayon, David E.; Williams, Lindsey; Chang, Wan Chi; Filuta, Alyssa; Ruff, Brandy; Kothari, Arjun; Hahn, Jennifer M.; Brandt, Eric; Satish, Latha; Roskin, Krishna; Herr, Andrew B.; Biagini, Jocelyn M.; Martin, Lisa J.; Cagdas, Deniz; Keles, Sevgi; Milner, Joshua D.; Supp, Dorothy M.; Hershey, Gurjit K. Khurana 分享 收藏
SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency Chan, Yi-Hao; Lundberg, Vanja; Le Pen, Jeremie; Yuan, Jiayi; Lee, Danyel; Pinci, Francesca; Volpi, Stefano; Nakajima, Koji; Bondet, Vincent; Akesson, Sanna; Khobrekar, Noopur V.; Bodansky, Aaron; Du, Likun; Melander, Tina; Mariaggi, Alice-Andree; Seeleuthner, Yoann; Saleh, Tariq Shikh; Chakravarty, Debanjana; Marits, Per; Dobbs, Kerry; Vonlanthen, Sofie; Hennings, Viktoria; Thorn, Karolina; Rinchai, Darawan; Bizien, Lucy; Chaldebas, Matthieu; Sobh, Ali; Ozcelik, Tayfun; Keles, Sevgi; AlKhater, Suzan A.; Prando, Carolina; Meyts, Isabelle; Wilson, Michael R.; Rosain, Jeremie; Jouanguy, Emmanuelle; Aubart, Melodie; Abel, Laurent; Mogensen, Trine H.; Pan-Hammarstrom, Qiang; Gao, Daxing; Duffy, Darragh; Cobat, Aurelie; Berg, Stefan; Notarangelo, Luigi D.; Harschnitz, Oliver; Rice, Charles M.; Studer, Lorenz; Casanova, Jean-Laurent; Ekwall, Olov; Zhang, Shen-Ying 分享 收藏
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye 通过全外显子组测序对临床诊断为先天性免疫缺陷的患者进行遗传评估: 来自t ü rkiye免疫缺陷专业研究中心的结果 Erman, Baran; Aba, Umran; Ipsir, Canberk; Pehlivan, Damla; Aytekin, Caner; Cildir, Goekhan; Cicek, Begum; Bozkurt, Ceren; Tekeoglu, Sidem; Kaya, Melisa; Aydogmus, Cigdem; Cipe, Funda; Sucak, Gulsan; Eltan, Sevgi Bilgic; Ozen, Ahmet; Baris, Safa; Karakoc-Aydiner, Elif; Kiykim, Ayca; Karaatmaca, Betul; Kose, Hulya; Uygun, Dilara Fatma Kocacik; Celmeli, Fatih; Arikoglu, Tugba; Ozcan, Dilek; Keskin, Ozlem; Arik, Elif; Aytekin, Elif Soyak; Cesur, Mahmut; Kucukosmanoglu, Ercan; Kilic, Mehmet; Yuksek, Mutlu; Bicakci, Zafer; Esenboga, Saliha; Ayvaz, Deniz cagdas; Sefer, Asena Pinar; Guner, Sukrue Nail; Keles, Sevgi; Reisli, Ismail; Musabak, Ugur; Demirbas, Nazli Deveci; Haskologlu, Sule; Kilic, Sara Sebnem; Metin, Ayse; Dogu, Figen; Ikinciogullari, Aydan; Tezcan, Ilhan 分享 收藏
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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (vol 15, 22, 2023) 罕见的预测的I型IFN免疫基因的功能丧失变异与危及生命的新型冠状病毒肺炎 (卷15，22，2023) Matuozzo, Daniela; Talouarn, Estelle; Marchal, Astrid; Zhang, Peng; Manry, Jeremy; Seeleuthner, Yoann; Zhang, Yu; Bolze, Alexandre; Chaldebas, Matthieu; Milisavljevic, Baptiste; Gervais, Adrian; Bastard, Paul; Asano, Takaki; Bizien, Lucy; Barzaghi, Federica; Abolhassani, Hassan; Tayoun, Ahmad Abou; Aiuti, Alessandro; Darazam, Ilad Alavi; Allende, Luis M.; Alonso-Arias, Rebeca; Arias, Andres Augusto; Aytekin, Gokhan; Bergman, Peter; Bondesan, Simone; Bryceson, Yenan T.; Bustos, Ingrid G.; Cabrera-Marante, Oscar; Carcel, Sheila; Carrera, Paola; Casari, Giorgio; Chaibi, Khalil; Colobran, Roger; Condino-Neto, Antonio; Covill, Laura E.; Delmonte, Ottavia M.; Zein, Loubna El; Flores, Carlos; Gregersen, Peter K.; Gut, Marta; Haerynck, Filomeen; Halwani, Rabih; Hancerli, Selda; Hammarstroem, Lennart; Hatipoglu, Nevin; Karbuz, Adem; Keles, Sevgi; Kyheng, Christele; Leon-Lopez, Rafael; Franco, Jose Luis; Mansouri, Davood; Martinez-Picado, Javier; Akcan, Ozge Metin; Migeotte, Isabelle; Morange, Pierre-Emmanuel; Morelle, Guillaume; Martin-Nalda, Andrea; Novelli, Giuseppe; Novelli, Antonio; Ozcelik, Tayfun; Palabiyik, Figen; Pan-Hammarstroem, Qiang; de Diego, Rebeca Perez; Planas-Serra, Laura; Pleguezuelo, Daniel E.; Prando, Carolina; Pujol, Aurora; Reyes, Luis Felipe; Riviere, Jacques G.; Rodriguez-Gallego, Carlos; Rojas, Julian; Rovere-Querini, Patrizia; Schlueter, Agatha; Shahrooei, Mohammad; Sobh, Ali; Soler-Palacin, Pere; Tandjaoui-Lambiotte, Yacine; Tipu, Imran; Tresoldi, Cristina; Troya, Jesus; van de Beek, Diederik; Zatz, Mayana; Zawadzki, Pawel; Al-Muhsen, Saleh Zaid; Alosaimi, Mohammed Faraj; Alsohime, Fahad M.; Baris-Feldman, Hagit; Butte, Manish J.; Constantinescu, Stefan N.; Cooper, Megan A.; Dalgard, Clifton L.; Fellay, Jacques; Heath, James R.; Lau, Yu-Lung; Lifton, Richard P.; Maniatis, Tom; Mogensen, Trine H.; von Bernuth, Horst; Lermine, Alban; Vidaud, Michel; Boland, Anne; Deleuze, Jean-Francois; Nussbaum, Robert; Kahn-Kirby, Amanda; Mentre, France; Tubiana, Sarah; Gorochov, Guy; Tubach, Florence; Hausfater, Pierre; Meyts, Isabelle; Zhang, Shen-Ying; Puel, Anne; Notarangelo, Luigi D.; Boisson-Dupuis, Stephanie; Su, Helen C.; Boisson, Bertrand; Jouanguy, Emmanuelle; Casanova, Jean-Laurent; Zhang, Qian; Abel, Laurent; Cobat, Aurelie 分享 收藏
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children 儿童中与抗ifn-α 相关的新型冠状病毒肺炎肺炎风险高于抗ifn-ω 自身抗体 Bastard, Paul; Gervais, Adrian; Taniguchi, Maki; Saare, Liisa; Sarekannu, Karita; Le Voyer, Tom; Philippot, Quentin; Rosain, Jeremie; Bizien, Lucy; Asano, Takaki; Garcia-Prat, Marina; Parra-Martinez, Alba; Migaud, Melanie; Tsumura, Miyuki; Conti, Francesca; Belot, Alexandre; Riviere, Jacques G.; Morio, Tomohiro; Tanaka, Junko; Javouhey, Etienne; Haerynck, Filomeen; Duvlis, Sotirija; Ozcelik, Tayfun; Keles, Sevgi; Tandjaoui-Lambiotte, Yacine; Escoda, Simon; Husain, Maya; Pan-Hammarstrom, Qiang; Hammarstrom, Lennart; Ahlijah, Gloria; Haidar, Anthony Abi; Soudee, Camille; Arseguel, Vincent; Abolhassani, Hassan; Sahanic, Sabina; Tancevski, Ivan; Nukui, Yoko; Hayakawa, Seiichi; Chrousos, George P.; Michos, Athanasios; Tatsi, Elizabeth-Barbara; Filippatos, Filippos; Rodriguez-Palmero, Agusti; Troya, Jesus; Tipu, Imran; Meyts, Isabelle; Roussel, Lucie; Ostrowski, Sisse Rye; Schidlowski, Laire; Prando, Carolina; Condino-Neto, Antonio; Cheikh, Nathalie; Bousfiha, Ahmed A.; El Bakkouri, Jalila; Peterson, Part; Pujol, Aurora; Levy, Romain; Quartier, Pierre; Vinh, Donald C.; Boisson, Bertrand; Beziat, Vivien; Zhang, Shen-Ying; Borghesi, Alessandro; Pession, Andrea; Andreakos, Evangelos; Marr, Nico; Mentis, Alexios-Fotios A.; Mogensen, Trine H.; Rodriguez-Gallego, Carlos; Soler-Palacin, Pere; Colobran, Roger; Tillmann, Vallo; Neven, Benedicte; Trouillet-Assant, Sophie; Brodin, Petter; Abel, Laurent; Jouanguy, Emmanuelle; Zhang, Qian; Martinon-Torres, Federico; Salas, Antonio; Gomez-Carballa, Alberto; Gonzalez-Granado, Luis I.; Kisand, Kai; Okada, Satoshi; Puel, Anne; Cobat, Aurelie; Casanova, Jean-Laurent 分享 收藏
Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs Auto-abs中和I型干扰素患者的疫苗突破性低氧新型冠状病毒肺炎肺炎 Bastard, Paul; Vazquez, Sara; Liu, Jamin; Laurie, Matthew T.; Wang, Chung Yu; Gervais, Adrian; Le Voyer, Tom; Bizien, Lucy; Zamecnik, Colin; Philippot, Quentin; Rosain, Jeremie; Catherinot, Emilie; Willmore, Andrew; Mitchell, Anthea M.; Bair, Rebecca; Garcon, Pierre; Kenney, Heather; Fekkar, Arnaud; Salagianni, Maria; Poulakou, Garyphallia; Siouti, Eleni; Sahanic, Sabina; Tancevski, Ivan; Weiss, Gunter; Nagl, Laurenz; Manry, Jeremy; Duvlis, Sotirija; Arroyo-Sanchez, Daniel; Paz Artal, Estela; Rubio, Luis; Perani, Cristiano; Bezzi, Michela; Sottini, Alessandra; Quaresima, Virginia; Roussel, Lucie; Vinh, Donald C.; Felipe Reyes, Luis; Garzaro, Margaux; Hatipoglu, Nevin; Boutboul, David; Tandjaoui-Lambiotte, Yacine; Borghesi, Alessandro; Aliberti, Anna; Cassaniti, Irene; Venet, Fabienne; Monneret, Guillaume; Halwani, Rabih; Sharif-Askari, Narjes Saheb; Danielson, Jeffrey; Burrel, Sonia; Morbieu, Caroline; Stepanovskyy, Yurii; Bondarenko, Anastasia; Volokha, Alla; Boyarchuk, Oksana; Gagro, Alenka; Neuville, Mathilde; Neven, Benedicte; Keles, Sevgi; Hernu, Romain; Bal, Antonin; Novelli, Antonio; Novelli, Giuseppe; Saker, Kahina; Ailioaie, Oana; Antoli, Arnau; Jeziorski, Eric; Rocamora-Blanch, Gemma; Teixeira, Carla; Delaunay, Clarisse; Lhuillier, Marine; Le Turnier, Paul; Zhang, Yu; Mahevas, Matthieu; Pan-Hammarstrom, Qiang; Abolhassani, Hassan; Bompoil, Thierry; Dorgham, Karim; Group, French Covid Study; Gorochov, Guy; Laouenan, Cedric; Rodriguez-Gallego, Carlos; Ng, Lisa F. P.; Renia, Laurent; Pujol, Aurora; Belot, Alexandre; Raffi, Francois; Allende, Luis M.; Martinez-Picado, Javier; Ozcelik, Tayfun; Keles, Sevgi; Imberti, Luisa; Notarangelo, Luigi D.; Troya, Jesus; Solanich, Xavier; Zhang, Shen-Ying; Puel, Anne; Wilson, Michael R.; Trouillet-Assants, Sophie; Abe, Laurent; Jouanguy, Emmanuelle; Ye, Chun Jimmie; Cobat, Aurelie; Thompson, Leslie M.; Andreakos, Evangelos; Zhang, Qian; Anderson, Mark S.; Casanova, Jean-Laurent; DeRisi, Joseph L. 分享 收藏
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