未登录.png)
分享.png)
收藏分享 收藏 Comprehensive αβ T-Cell Receptor Repertoire Analysis Reveals a Unique CD8+TCR Landscape in DOCK8-Deficient Patients全面的 α β T细胞受体库分析揭示了DOCK8-Deficient患者独特的CD8 TCR景观
Bozkurt, C; Cildir, G; Aba, U; Erdogan, RK; Warnock, N; Kok, CH; Sefer, AP; Haskologlu, S; Tekeoglu, SD; Kilinç, GM; Ipsir, C; Arikoglu, T; Ozhan, AK; Esenboga, S; Özen, A; Karakoç-Aydiner, E; Eltan, SB; Aydogmus, Ç; Islamoglu, C; Baskin, K; Karaatmaca, B; Metin, A; Çagdas, D; Dogu, F; Ikinciogullari, A; Baris, S; Erman, B 分享 收藏 分享 收藏 分享 收藏 The patient experience of CHAPLE disease: results from interviews conducted as part of a clinical trial for an ultra-rare conditionLitcher-Kelly, Leighann; Ozen, Ahmet; Ollis, Sarah; Feldman, Hagit Baris; Yaworsky, Andrew; Medrano, Paolo; Chongsrisawat, Voranush; Perlee, Lorah; Walker, Marisa; Pradeep, Sharanya; Turner-Bowker, Diane M.; Kurolap, Alina; Adiv, Orly Eshach; Lenardo, Michael J.; Harari, Olivier A.; Jalbert, Jessica J. 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 Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from TurkeyIPEX综合征患者的不同临床和免疫学特征: 来自土耳其的多中心分析Bozkurt, Hayrunnisa Bekis; Catak, Feyza Bayram; Sahin, Ali; Gungoren, Ezgi Yalcin; Karaarslan, Betul Gemici; Yakici, Nalan; Altunbas, Melek Yorgun; Catak, Mehmet Cihangir; Can, Salim; Amirov, Razin; Bozkurt, Selcen; Ozturk, Necmiye; Eltan, Sevgi Bilgic; Kasap, Nurhan; Cetinkaya, Fatma Bal; Orhan, Fazil; Arga, Mustafa; Cavkaytar, Ozlem; Kiykim, Ayca; Karakoc-Aydiner, Elif; Ozen, Ahmet; Baris, Safa 分享 收藏 DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in HumansAzizoglu, Zehra Busra; Babayeva, Royala; Haskologlu, Zehra Sule; Acar, Mustafa Burak; Ayaz-Guner, Serife; Okus, Fatma Zehra; Alsavaf, Mohammad Bilal; Can, Salim; Basaran, Kemal Erdem; Canatan, Mehmed Fatih; Ozcan, Alper; Erkmen, Hasret; Leblebici, Can Berk; Yilmaz, Ebru; Karakukcu, Musa; Kose, Mehmet; Canoz, Ozlem; Ozen, Ahmet; Karakoc-Aydiner, Elif; Ceylaner, Serdar; Gumus, Guelsuem; Per, Huseyin; Gumus, Hakan; Canatan, Halit; Ozcan, Servet; Dogu, Figen; Ikinciogullari, Aydan; Unal, Ekrem; Baris, Safa; Eken, Ahmet 分享 收藏 Pozelimab for CHAPLE disease: results from in-trial interviews and clinical outcome assessmentsLitcher-Kelly, Leighann; Ozen, Ahmet; Ollis, Sarah; Feldman, Hagit Baris; Yaworsky, Andrew; Medrano, Paolo; Chongsrisawa, Voranush; Brackin, Taylor; Perlee, Lorah; Walker, Marisa; Pradeep, Sharanya; Lenardo, Michael J.; Harari, Olivier A.; Jalbert, Jessica J. 分享 收藏 Neurocognitive Impairment in Patients With Ataxia Telangiectasia and Their Unaffected Parents: Is It Similar?共济失调毛细血管扩张症患者及其未受影响的父母的神经认知功能障碍: 是否相似？Uyar, Emel; Akturk, Hacer; Usanmaz, Sevil; Kiykim, Ayca; Tufan, Ali Evren; Alibas, Hande; Aydiner, Omer; Somer, Ayper; Ozen, Ahmet; Baris, Safa; Karakoc-Aydiner, Elif 分享 收藏 Artemis deficiency: A large cohort including a novel variant with increased radiosensitivityArtemis缺乏症: 一个大型队列，包括一个放射敏感性增加的新变体Meric, Zeynep; Karaaslan, Betul Gemici; Gungoren, Ezgi Yalcin; Hortoglu, Melika Bektas; Cavas, Tolga; Aydemir, Sezin; Eltan, Sevgi Bilgic; Firtina, Sinem; Demirkol, Yasemin Kendir; Eser, Metin; Cekic, Sukru; Kilic, Suar; Karasu, Gulsun; Yesilipek, Mehmet Akif; Gungor, Hatice Eke; Karakoc-Aydiner, Elif; Ozen, Ahmet; Baris, Safa; Yucel, Esra; Cokugras, Haluk; Kiykim, Ayca 分享 收藏 Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion雷帕霉素控制淋巴细胞增殖并逆转新型STIM1功能缺失患者的T细胞反应Karakus, Ibrahim Serhat; Catak, Mehmet Cihangir; Frohne, Alexandra; Catak, Feyza Bayram; Altunbas, Melek Yorgun; Babayeva, Royala; Bal, Sevgi Kostel; Eltan, Sevgi Bilgic; Gungoren, Ezgi Yalcin; Esen, Fehim; Zemheri, Itir Ebru; Karakoc-Aydiner, Elif; Ozen, Ahmet; Caki-Kilic, Suar; Kraakman, Michael J.; Boztug, Kaan; Baris, Safa 分享 收藏 TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability SyndromeWerren, Elizabeth A.; Laforce, Geneva R.; Srivastava, Anshika; Perillo, Delia R.; Li, Shaokun; Johnson, Katherine; Baris, Safa; Berger, Brandon; Regan, Samantha L.; Pfennig, Christian D.; de Munnik, Sonja; Pfundt, Rolph; Hebbar, Malavika; Jimenez-Heredia, Raul; Karakoc-Aydiner, Elif; Ozen, Ahmet; Dmytrus, Jasmin; Krolo, Ana; Corning, Ken; Prijoles, E. J.; Louie, Raymond J.; Lebel, Robert Roger; Le, Thuy-Linh; Amiel, Jeanne; Gordon, Christopher T.; Boztug, Kaan; Girisha, Katta M.; Shukla, Anju; Bielas, Stephanie L.; Schaffer, Ashleigh E. 分享 收藏 Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome与ICF综合征相关的临床和免疫学改变的评估Bilgic Eltan, Sevgi; Nain, Ercan; Catak, Mehmet Cihangir; Ezen, Ege; Sefer, Asena Pinar; Karimi, Nastaran; Kiykim, Ayca; Kolukisa, Burcu; Baser, Dilek; Bulutoglu, Alper; Kasap, Nurhan; Yorgun Altunbas, Melek; Yalcin Gungoren, Ezgi; Kendir Demirkol, Yasemin; Kutlug, Seyhan; Hancioglu, Gonca; Dilek, Fatih; Yildiran, Alisan; Ozen, Ahmet; Karakoc-Aydiner, Elif; Erman, Batu; Baris, Safa 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 Activated phosphoinositide 3-kinase d syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity活化的磷酸肌醇3-激酶d综合征: 来自ESID注册表的更新以及与其他自身免疫-淋巴增生先天性免疫错误的比较Maccari, Maria Elena; Wolkewitz, Martin; Schwab, Charlotte; Lorenzini, Tiziana; Leiding, Jennifer W.; Aladjdi, Nathalie; Abolhassani, Hassan; Abou-Chahla, Wadih; Aiuti, Alessandro; Azarnoush, Saba; Baris, Safa; Barlogis, Vincent; Barzaghi, Federica; Baumann, Ulrich; Bloomfield, Marketa; Bohynikova, Nadezda; Bodet, Damien; Boutboul, David; Bucciol, Giorgia; Buckland, MattheW S.; Burns, Siobhan O.; Cancrini, Caterina; Cath, Pascal; Cavazzana, Marina; Cheminant, Morgane; Chinello, Matteo; Ciznar, Peter; Coulter, Tanya I.; D'Aveni, Maud; Ekwall, Olov; Eric, Zelimir; Eren, Efrem; Fasth, Anders; Frange, Pierre; Fournier, Benjamin; Garcia-Prat, Marina; Gardembas, Martine; Geier, Christoph; Ghosh, Sujal; Goda, Vera; Hammarstrom, Lennar; Hauck, Fabian; Heeg, Maximilian; Heropolitanska-Pliszka, Edyta; Hilfanova, Anna; Jolles, Stephen; Karakoc-Aydiner, Elif; Kindle, Gerhard R.; Kiykim, Ayca; Klemann, Christian; Koletsi, Patra; Koltan, Sylwia; Kondratenko, Irina; Korholz, Julia; Kruger, Renate; Jeziorski, Eric; Levy, Romain; Le Guenno, Guillaume; Lefevre, Guillaume; Lougaris, Vassilios; Marzollo, Antonio; Mahlaoui, Nizar; Malphettes, Marion; Meinhardt, Andrea; Merlin, Etienne; Meyts, Isabelle; Milota, Tomas; Moreira, Fernando; Moshous, Despina; Mukhina, Anna; Neth, Olaf; Neubert, Jennifer; Neven, Benedicte; Nieters, Alexandra; Nove-Josserand, Raphaele; Oksenhendler, Eric; Ozen, Ahmet; Olbrich, Peter; Perlat, Antoinette; Pac, Malgorzata; Schmid, Jana Pachlopnik; Pacillo, Lucia; Parra-Martinez, Alba; Paschenko, Olga; Pellier, Isabelle; Sefer, Asena Pinar; Plebani, Alessandro; Plantaz, Dominique; Prader, Seraina; Raffray, Loic; Ritterbusch, Henrike; Riviere, Jacques G.; Rivalta, Beatrice; Rusch, Stephan; Sakovich, Inga; Savic, Sinisa; Scheible, Raphael; Schleinitz, Nicolas; Schuetz, Catharina; Schulz, Ansgar; Sediva, Anna; Semeraro, Michaela; Sharapova, Svetlana O.; Shcherbina, Anna; Slatter, Mary A.; Sogkas, Georgios; Soler-Palacin, Pere; Speckmann, Carsten; Stephan, Jean-Louis; Suarez, Felipe; Tommasini, Alberto; Truck, Johannes; Uhlmann, Annette; van Aerde, Koen J.; van Montfrans, Joris; von Bernuth, Horst; Warnatz, Klaus; Williams, Tony; Worth, Austen J. J.; Ip, Winnie; Picard, Capucine; Catherinot, Emilie; Nademi, Zohreh; Grimbacher, Bodo; Satter, Lisa R. Forbes; Kracker, Sven; Chandra, Anita; Condliffe, Alison M.; Ehl, Stephan 分享 收藏 Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic DermatitisKasap, Nurhan; Kara, Altan; Celik, Velat; Eltan, Sevgi Bilgic; Haci, Idil Akay; Kose, Hulya; Aygun, Ayse; Akkelle, Emre; Yakici, Nalan; Guner, Sukru Nail; Reisli, Ismail; Keles, Sevgi; Cekic, Sukru; Kilic, Sara Sebnem; Karaca, Neslihan Edeer; Gulez, Nesrin; Genel, Ferah; Ozen, Ahmet; Yucelten, Ayse Deniz; Karakoc-Aydiner, Elif; Schmitz-Abe, Klaus; Baris, Safa 分享 收藏 Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6由于转录因子STAT6的功能突变而导致的严重过敏性失调Baris, Safa; Benamar, Mehdi; Chen, Qian; Catak, Mehmet Cihangir; Martinez-Blanco, Monica; Wang, Muyun; Fong, Jason; Massaad, Michel J.; Sefer, Asena Pinar; Kara, Altan; Babayeva, Royala; Eltan, Sevgi Bilgic; Yucelten, Ayse Deniz; Bozkurtlar, Emine; Cinel, Leyla; Karakoc-Aydiner, Elif; Zheng, Yumei; Wu, Hao; Ozen, Ahmet; Schmitz-Abe, Klaus; Chatila, Talal A. 分享 收藏 Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome单基因早发性淋巴细胞增殖和自身免疫: STAT3功能获得综合征的自然史Leiding, Jennifer W.; Vogel, Tiphanie P.; Santarlas, Valentine G. J.; Mhaskar, Rahul; Smith, Madison R.; Carisey, Alexandre; Vargas-Hernandez, Alexander; Silva-Carmona, Manuel; Heeg, Maximilian; Rensing-Ehl, Anne; Neven, Benedicte; Hadjadj, Jerome; Hambleton, Sophie; Leahy, Timothy Ronan; Meesilpavikai, Kornvalee; Cunningham-Rundles, Charlotte; Dutmer, Cullen M.; Sharapova, Svetlana O.; Taskinen, Mervi; Chua, Ignatius; Hague, Rosie; Klemann, Christian; Kostyuchenko, Larysa; Morio, Tomohiro; Thatayatikom, Akaluck; Ozen, Ahmet; Scherbina, Anna; Bauer, Cindy S.; Flanagan, Sarah E.; Gambineri, Eleonora; Giovannini-Chami, Lisa; Heimall, Jennifer; Sullivan, Kathleen E.; Allenspach, Eric; Romberg, Nei; Deane, Sean G.; Prince, Benjamin T.; Rose, Melissa J.; Bohnsack, John; Mousallem, Talal; Jesudas, Rohith; Vilela, Maria Marluce Dos Santos; O'Sullivan, Michael; Schmid, Jana Pachlopnik; Pruhova, Stepanka; Klocperk, Adam; Rees, Matthew; Su, Helen; Bahna, Sami; Baris, Saf; Bartnikas, Lisa M.; Berger, Amy Chang; Briggs, Tracy A.; Brothers, Shannon; Bundy, Vanessa; Chan, Alice Y.; Chandrakasan, Shanmuganathan; Christiansen, Mette; Cole, Theresa; Cook, Matthew C.; Desai, Mukesh M.; Fischer, Ute; Fulcher, David A.; Gallo, Silvanna; Gauthier, Amelie; Gennery, Andrew R.; Marques, Jose Goncalo; Gottrand, Frederic; Grimbacher, Bodo; Grunebaum, Eyal; Haapaniemi, Emma; Hamalainen, Sari; Heiskanen, Kaarina; Heiskanen-Kosma, Tarja; Hoffman, Hal M.; Gonzalez-Granado, Luis Ignacio; Guerrerio, Anthony L.; Kainulainen, Leena; Kumar, Ashish; Lawrence, Monica G.; Levin, Carina; Martelius, Timi; Neth, Olaf; Olbrich, Peter; Palma, Alejandro; Patel, Niraj C.; Pozos, Tamara; Preece, Kahn; Lugo Reyes, Saul Oswaldo; Russell, Mark A.; Schejter, Yael; Seroogy, Christine; Sinclair, Jan; Skevofilax, Effie; Suan, Daniel; Suez, Daniel; Szabolcs, Paul; Velasco, Helena; Warnatz, Klaus; Walkovich, Kelly; Worth, Austen; Seppanen, Mikko R. J.; Torgerson, Troy R.; Sogkas, Georgios; Ehl, Stephan; Tangye, Stuart G.; Cooper, Megan A.; Milner, Joshua D.; Satter, Lisa R. Forbes 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
