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收藏分享 收藏 分享 收藏 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 分享 收藏 分享 收藏 COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET ReportMcDonnell, John; Cousins, Kimberley; Younger, M. Elizabeth M.; Lane, Adam; Abolhassani, Hassan; Abraham, Roshini S.; Al-Tamemi, Salem; Aldave-Becerra, Juan Carlos; Al-Faris, Eman Hesham; Alfaro-Murillo, Alberto; Alkhater, Suzan A.; Alsaati, Nouf; Doss, Alexa Michelle Altman; Anderson, Melissa; Angarola, Ernestina; Ariue, Barbara; Arnold, Danielle E.; Assa'ad, Amal H.; Aytekin, Caner; Bank, Meaghan; Bergerson, Jenna R. E.; Bleesing, Jack; Boesing, John; Bouso, Carolina; Brodszki, Nicholas; Cabanillas, Diana; Cady, Carol; Callahan, Meghan A.; Caorsi, Roberta; Carbone, Javier; Carrabba, Maria; Castagnoli, Riccardo; Catanzaro, Jason R.; Chan, Samantha; Chandra, Sharat; Chapdelaine, Hugo; Chavoshzadeh, Zahra; Chong, Hey Jin; Connors, Lori; Consonni, Filippo; Correa-Jimenez, Oscar; Cunningham-Rundles, Charlotte; D'Astous-Gauthier, Katherine; Delmonte, Ottavia Maria; Demirdag, Yesim Yilmaz; Deshpande, Deepti R.; Diaz-Cabrera, Natalie M.; Dimitriades, Victoria R.; El-Owaidy, Rasha; Elghazali, Gehad; Al-Hammadi, Suleiman; Fabio, Giovanna; Faure, Astrid Schellnast; Feng, Jin; Fernandez, James M.; Fill, Lauren; Franco, Guacira R.; Frenck, Robert W.; Fuleihan, Ramsay L.; Giardino, Giuliana; Galant-Swafford, Jessica; Gambineri, Eleonora; Garabedian, Elizabeth K.; Geerlinks, Ashley V.; Goudouris, Ekaterini; Grecco, Octavio; Pan-Hammarstrom, Qiang; Khani, Hedieh Haji Khodaverdi; Hammarstrom, Lennart; Hartog, Nicholas L.; Heimall, Jennifer; Hernandez-Molina, Gabriela; Horner, Caroline C.; Hostoffer, Robert W.; Hristova, Nataliya; Hsiao, Kuang-Chih; Ivankovich-Escoto, Gabriela; Jaber, Faris; Jalil, Maaz; Jamee, Mahnaz; Jean, Tiffany; Jeong, Stephanie; Jhaveri, Devi; Jordan, Michael B.; Joshi, Avni Y.; Kalkat, Amanpreet; Kanarek, Henry J.; Kellner, Erinn S.; Khojah, Amer; Khoury, Ruby; Kokron, Cristina M.; Kumar, Ashish; Lecerf, Kelsey; Lehman, Heather K.; Leiding, Jennifer W.; Lesmana, Harry; Lim, Xin Rong; Lopes, Joao Pedro; Lopez, Ana Laura; Tarquini, Lucia; Lundgren, Ingrid S.; Magnusson, Julieann; Marinho, Ana Karolina B. B.; Marseglia, Gian Luigi; Martone, Giulia M.; Mechtler, Annamaria G.; Mendonca, Leonardo; Milner, Joshua D.; Mustillo, Peter J.; Naderi, Asal Gharib; Naviglio, Samuele; Nell, Jeremy; Niebur, Hana B.; Notarangelo, Luigi; Oleastro, Matias; Ortega-Lopez, Maria Claudia; Patel, Neil R.; Petrovic, Gordana; Pignata, Claudio; Porras, Oscar; Prince, Benjamin T.; Puck, Jennifer M.; Qamar, Nashmia; Rabusin, Marco; Raje, Nikita; Regairaz, Lorena; Risma, Kimberly A.; Ristagno, Elizabeth H.; Routes, John; Roxo-Junior, Persio; Salemi, Negin; Scalchunes, Christopher; Schuval, Susan J.; Seneviratne, Suranjith L.; Shankar, Ashwin; Sherkat, Roya; Shin, Junghee Jenny; Siddiqi, Abeer; Signa, Sara; Sobh, Ali; Lima, Fabiana Mascarenhas Souza; Stenehjem, Kristen K.; Tam, Jonathan S.; Tang, Monica; Barros, Myrthes Toledo; Verbsky, James; Vergadi, Eleni; Voelker, Dayne H.; Volpi, Stefano; Wall, Luke A.; Wang, Christine; Williams, Kelli W.; Wu, Eveline Y.; Wu, Shan Shan; Zhou, Jessie J.; Cook, Alexandria; Sullivan, Kathleen E.; Marsh, Rebecca 分享 收藏 GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway (vol 25, pg 282, 2024)GIMAP5缺陷揭示了哺乳动物神经酰胺驱动的长寿保证途径 (第25卷，282页，2024页)Park, Ann Y.; Leney-Greene, Michael; Lynberg, Matthew; Gabrielski, Justin Q.; Xu, Xijin; Schwarz, Benjamin; Zheng, Lixin; Balasubramaniyam, Arasu; Ham, Hyoungjun; Chao, Brittany; Zhang, Yu; Matthews, Helen F.; Cui, Jing; Yao, Yikun; Kubo, Satoshi; Chanchu, Jean Michel; Morawski, Aaron R.; Cook, Sarah A.; Jiang, Ping; Ravell, Juan C.; Cheng, Yan H.; George, Alex; Faruqi, Aiman; Pagalilauan, Alison M.; Bergerson, Jenna R. E.; Ganesan, Sundar; Chauvin, Samuel D.; Aluri, Jahnavi; Edwards-Hicks, Joy; Bohrnsen, Eric; Tippett, Caroline; Omar, Habib; Xu, Leilei; Butcher, Geoffrey W.; Pascall, John; Karakoc-Aydiner, Elif; Kiykim, Ayca; Maecker, Holden; Tezcan, Ilhan; Esenboga, Saliha; Heredia, Raul Jimenez; Akata, Deniz; Tekin, Saban; Kara, Altan; Kuloglu, Zarife; Unal, Emel; Kendirli, Tanil; Dogu, Figen; Karabiber, Esra; Atkinson, T. Prescott; Cochet, Claude; Filhol, Odile; Bosio, Catherine M.; Davis, Mark M.; Lifton, Richard P.; Pearce, Erika L.; Daumke, Oliver; Aytekin, Caner; Sahin, Gulseren Evirgen; Aksu, Aysel Unlusoy; Uzel, Gulbu; Rao, V. Koneti; Sari, Sinan; Dalgic, Buket; Boztug, Kaan; Cagdas, Deniz; Haskologlu, Sule; Ikinciogullari, Aydan; Schwefel, David; Vilarinho, Silvia; Baris, Safa; Ozen, Ahmet; Su, Helen C.; Lenardo, Michael J. 分享 收藏 GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathwayGIMAP5缺陷揭示了哺乳动物神经酰胺驱动的长寿保证途径Park, Ann Y.; Leney-Greene, Michael; Lynberg, Matthew; Gabrielski, Justin Q.; Xu, Xijin; Schwarz, Benjamin; Zheng, Lixin; Balasubramaniyam, Arasu; Ham, Hyoungjun; Chao, Brittany; Zhang, Yu; Matthews, Helen F.; Cui, Jing; Yao, Yikun; Kubo, Satoshi; Chanchu, Jean Michel; Morawski, Aaron R.; Cook, Sarah A.; Jiang, Ping; Ravell, Juan C.; Cheng, Yan H.; George, Alex; Faruqi, Aiman; Pagalilauan, Alison M.; Bergerson, Jenna R. E.; Ganesan, Sundar; Chauvin, Samuel D.; Aluri, Jahnavi; Edwards-Hicks, Joy; Bohrnsen, Eric; Tippett, Caroline; Omar, Habib; Xu, Leilei; Butcher, Geoffrey W.; Pascall, John; Karakoc-Aydiner, Elif; Kiykim, Ayca; Maecker, Holden; Tezcan, Ilhan; Esenboga, Saliha; Heredia, Raul Jimenez; Akata, Deniz; Tekin, Saban; Kara, Altan; Kuloglu, Zarife; Unal, Emel; Kendirli, Tanil; Dogu, Figen; Karabiber, Esra; Atkinson, T. Prescott; Cochet, Claude; Filhol, Odile; Bosio, Catherine M.; Davis, Mark M.; Lifton, Richard P.; Pearce, Erika L.; Daumke, Oliver; Aytekin, Caner; Sahin, Guelseren Evirgen; Aksu, Aysel uenluesoy; Uzel, Gulbu; Koneti Rao, V.; Sari, Sinan; Boztug, Kaan; Cagdas, Deniz; Haskologlu, Sule; Ikinciogullari, Aydan; Schwefel, David; Vilarinho, Silvia; Baris, Safa; Ozen, Ahmet; Su, Helen C.; Lenardo, Michael J. 分享 收藏 Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiencyTaghizade, Nigar; Babayeva, Royala; Kara, Altan; Karakus, Ibrahim Serhat; Catak, Mehmet Cihangir; Bulutoglu, Alper; Haskologlu, Zehra Sule; Haci, Idil Akay; Dalgic, Ceyda Tunakan; Karabiber, Esra; Eltan, Sevgi Bilgic; Altunbas, Melek Yorgun; Sefer, Asena Pinar; Sezer, Ahmet; Karadag, Sefika Ilknur Kokcu; Arik, Elif; Karali, Zuhal; Kont, Aylin Ozhan; Tuzer, Can; Karaman, Sait; Mersin, Selver Seda; Kasap, Nurhan; Celik, Enes; Uygun, Dilara Fatma Kocacik; Aydemir, Sezin; Kiykim, Ayca; Aydogmus, Cigdem; Yucel, Esra Ozek; Celmeli, Fatih; Karatay, Emrah; Bozkurtlar, Emine; Demir, Semra; Metin, Ayse; Karaca, Neslihan Edeer; Kutukculer, Necil; Aksu, Guzide; Guner, Sukru Nail; Keles, Sevgi; Reisli, Ismail; Demirkol, Yasemin Kendir; Arikoglu, Tugba; Gulez, Nesrin; Genel, Ferah; Kilic, Sara Sebnem; Aytekin, Caner; Keskin, Ozlem; Yildiran, Alisan; Ozcan, Dilek; Altintas, Derya Ufuk; Ardeniz, Fatma Omur; Dogu, Esin Figen; Ikinciogullari, Kamile Aydan; Karakoc-Aydiner, Elif; Ozen, Ahmet; Baris, Safa 分享 收藏 分享 收藏 Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a childOgishi, Masato; Yang, Rui; Aytekin, Caner; Langlais, David; Bourgey, Mathieu; Khan, Taushif; Al Ali, Fatima; Rahman, Mahbuba; Delmonte, Ottavia M.; Chrabieh, Maya; Zhang, Peng; Gruber, Conor; Pelham, Simon J.; Spaan, Andras N.; Rosain, Jeremie; Lei, Wei-Te; Drutman, Scott; Hellmann, Matthew D.; Callahan, Margaret K.; Adamow, Matthew; Wong, Phillip; Wolchok, Jedd D.; Rao, Geetha; Ma, Cindy S.; Nakajima, Yuka; Yaguchi, Tomonori; Chamoto, Kenji; Williams, Samuel C.; Emile, Jean-Francois; Rozenberg, Flore; Glickman, Michael S.; Rapaport, Franck; Kerner, Gaspard; Allington, Garrett; Tezcan, Ilhan; Cagdas, Deniz; Hosnut, Ferda O.; Dogu, Figen; Ikinciogullari, Aydan; Rao, V. Koneti; Kainulainen, Leena; Beziat, Vivien; Bustamante, Jacinta; Vilarinho, Silvia; Lifton, Richard P.; Boisson, Bertrand; Abel, Laurent; Bogunovic, Dusan; Marr, Nico; Notarangelo, Luigi D.; Tangye, Stuart G.; Honjo, Tasuku; Gros, Philippe; Boisson-Dupuis, Stephanie; Casanova, Jean-Laurent 分享 收藏 Single-Center Study of 72 Patients with Severe Combined Immunodeficiency: Clinical and Laboratory Features and OutcomesBayram, Ozlem; Haskologlu, Sule; Bayrakoglu, Deniz; Bal, Sevgi Kostel; Islamoglu, Candan; Cipe, Funda Erol; Kendirli, Tanil; Kursun, Nazmiye; Guner, Sukru Nail; Yildiran, Alisan; Bozdogan, Gunseli; Yuksek, Mutlu; Reisli, Ismail; Dalva, Klara; Aytekin, Caner; Boztug, Kaan; Dogu, Figen; Ikinciogullari, Aydan 分享 收藏 Clinical, immunological features and follow up of 20 patients with dedicator of cytokinesis 8 (DOCK8) deficiencyHaskologlu, Sule; Bal, Sevgi Kostel; Islamoglu, Candan; Aytekin, Caner; Guner, Sukru; Sevinc, Selin; Keles, Sevgi; Kendirli, Tanil; Ceylaner, Serdar; Dogu, Figen; Ikinciogullari, Aydan 分享 收藏 The evaluation of malignancies in Turkish primary immunodeficiency patients; a multicenter studyCekic, Sukru; Metin, Ayse; Aytekin, Caner; Karaca, Neslihan Edeer; Baris, Safa; Karali, Yasin; Kiykim, Ayca; Aydiner, Elif Karakoc; Ozen, Ahmet; Aslan, Torehan; Sevinir, Betul; Aksu, Guzide; Kutukculer, Necil; Kilic, Sara Sebnem 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 Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiencyKong, Xiao-Fei; Martinez-Barricarte, Ruben; Kennedy, James; Mele, Federico; Lazarov, Tomi; Deenick, Elissa K.; Ma, Cindy S.; Breton, Gaelle; Lucero, Kimberly B.; Langlais, David; Bousfiha, Aziz; Aytekin, Caner; Markle, Janet; Trouillet, Celine; Jabot-Hanin, Fabienne; Arlehamn, Cecilia S. Lindestam; Rao, Geetha; Picard, Capucine; Lasseau, Theo; Latorre, Daniela; Hambleton, Sophie; Deswarte, Caroline; Itan, Yuval; Abarca, Katia; Moraes-Vasconcelos, Dewton; Ailal, Fatima; Ikinciogullari, Aydan; Dogu, Figen; Benhsaien, Ibtihal; Sette, Alessandro; Abel, Laurent; Boisson-Dupuis, Stephanie; Schroeder, Bernd; Nussenzweig, Michel C.; Liu, Kang; Geissmann, Frederic; Tangye, Stuart G.; Gros, Philippe; Sallusto, Federica; Bustamante, Jacinta; Casanova, Jean-Laurent 分享 收藏 Multiple Presentations of LRBA Deficiency: a Single-Center ExperienceBal, Sevgi Kostel; Haskologlu, Sule; Serwas, Nina K.; Islamoglu, Candan; Aytekin, Caner; Kendirli, Tanil; Kuloglu, Zarife; Yavuz, Gulsan; Dalgic, Buket; Siklar, Zeynep; Kansu, Aydan; Ensari, Arzu; Boztug, Kaan; Dogu, Figen; Ikinciogullari, Aydan 分享 收藏 Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiencyLevy, Romain; Okada, Satoshi; Beziat, Vivien; Moriya, Kunihiko; Liu, Caini; Chai, Louis Yi Ann; Migaud, Melanie; Hauck, Fabian; Al Ali, Amein; Cyrus, Cyril; Vatte, Chittibabu; Patiroglu, Turkan; Unal, Ekrem; Ferneiny, Marie; Hyakuna, Nobuyuki; Nepesov, Serdar; Oleastro, Matias; Ikinciogullari, Aydan; Dogu, Figen; Asano, Takaki; Ohara, Osamu; Yun, Ling; Della Mina, Erika; Bronnimann, Didier; Itan, Yuval; Gothe, Florian; Bustamante, Jacinta; Boisson-Dupuis, Stephanie; Tahuil, Natalia; Aytekin, Caner; Salhi, Aicha; Al Muhsen, Saleh; Kobayashi, Masao; Toubiana, Julie; Abel, Laurent; Li, Xiaoxia; Camcioglu, Yildiz; Celmeli, Fatih; Klein, Christoph; AlKhater, Suzan A.; Casanova, Jean-Laurent; Puel, Anne 分享 收藏 
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