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Hematopoietic Stem Cell Transplantation in Severe Combined Immunodeficiency at the Pediatric Intensive Care Unit: Case Series of 5 Severe Combined Immunodeficiency Patients 儿科重症监护病房中重症联合免疫缺陷患者的造血干细胞移植：5例重症联合免疫缺陷患者的病例系列 Ozturk, Gokcan; Haskologlu, Sule; Islamoglu, Candan; Havan, Merve; Deveci, Nazli; Erkmen, Hasret; Baskin, Kubra; Kendirli, Tanil; Dogu, Figen; Ikinciogullari, Aydan 分享 收藏
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Defective kinase activity of IKKα leads to combined immunodeficiency and disruption of immune tolerance in humans Cildir, Gokhan; Aba, Umran; Pehlivan, Damla; Tvorogov, Denis; Warnock, Nicholas I.; Ipsir, Canberk; Arik, Elif; Kok, Chung Hoow; Bozkurt, Ceren; Tekeoglu, Sidem; Inal, Gaye; Cesur, Mahmut; Kucukosmanoglu, Ercan; Karahan, Ibrahim; Savas, Berna; Balci, Deniz; Yaman, Ayhan; Demirbas, Nazli Deveci; Tezcan, Ilhan; Haskologlu, Sule; Dogu, Figen; Ikinciogullari, Aydan; Keskin, Ozlem; Tumes, Damon J.; Erman, Baran 分享 收藏
DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans (vol 44, 175, 2024) Azizoglu, 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, Gulsum; Per, Huseyin; Gumus, Hakan; Canatan, Halit; Ozcan, Servet; Dogu, Figen; Ikinciogullari, Aydan; Unal, Ekrem; Baris, Safa; Eken, Ahmet 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
DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans Azizoglu, 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
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Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion RIPK1部分缺失的婴儿的极早发性炎症性肠病 Kirsaclioglu, Ceyda Tuna; Frohne, Alexandra; Kuloglu, Zarife; Kristofersdottir, Isidora; Demir, Engin; Altuntas, Cansu; Haskologlu, Zehra Sule; Cobanoglu, Fatma Nazan; Kendirli, Tanil; Ozdemir, Halil; Ozcakar, Zeynep Birsin; Savas, Berna; Dogu, Figen; Ikinciogullari, Aydan; Boztug, Kaan; Kansu, Aydan 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
The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity 中东和北非先天性免疫错误的诊断和管理指南 Baris, Safa; Abolhassani, Hassan; Massaad, Michel J.; Al-Nesf, Maryam; Chavoshzadeh, Zahra; Keles, Sevgi; Reisli, Ismail; Tahiat, Azzeddine; Shendi, Hiba Mohammad; Abd Elaziz, Dalia; Belaid, Brahim; Al Dhaheri, Fatima; Haskologlu, Sule; Dogu, Figen; Ben-Mustapha, Imen; Sobh, Ali; Galal, Nermeen; Meshaal, Safa; Elhawary, Rabab; El-marsafy, Aisha; Alroqi, Fayhan J.; Al-Saud, Bandar; Al-Ahmad, Mona; Al Farsi, Tariq; AL Sukaiti, Nashat; Al-Tamemi, Salem; Mehawej, Cybel; Dbaibo, Ghassan; ElGhazali, Gehad; Kilic, Sara Sebnem; Genel, Ferah; Kiykim, Ayca; Musabak, Ugur; Artac, Hasibe; Guner, Sukru Nail; Boukari, Rachida; Djidjik, Reda; Kechout, Nadia; Cagdas, Deniz; El-Sayed, Zeinab Awad; Karakoc-Aydiner, Elif; Alzyoud, Raed; Barbouche, Mohamed Ridha; Adeli, Mehdi; Wakim, Rima Hanna; Reda, Shereen M.; Ikinciogullari, Aydan; Ozen, Ahmet; Bousfiha, Aziz; Al-Mousa, Hamoud; Rezaei, Nima; Al-Herz, Waleed; Geha, Raif S. 分享 收藏
Hematopoietic cell transplantation in severe combined immunodeficiency: The SCETIDE 2006-2014 European cohort 严重联合免疫缺陷的造血细胞移植: SCETIDE 2006 2014的欧洲队列 Lankester, Arjan C.; Neven, Benedicte; Mahlaoui, Nizar; von Asmuth, Erik G. J.; Courteille, Virginie; Alligon, Mikael; Albert, Michael H.; Serra, Isabelle Badell; Bader, Peter; Balashov, Dmitry; Beier, Rita; Bertrand, Yves; Blanche, Stephane; Bordon, Victoria; Bredius, Robbert G.; Cant, Andrew; Cavazzana, Marina; Diaz-de-Heredia, Cristina; Dogu, Figen; Ehlert, Karoline; Entz-Werle, Natacha; Fasth, Anders; Ferrua, Francesca; Ferster, Alina; Formankova, Renata; Friedrich, Wilhelm; Gonzalez-Vicent, Marta; Gozdzik, Jolanta; Gungor, Tayfun; Hoenig, Manfred; Ikinciogullari, Aydan; Kalwak, Krzysztof; Kansoy, Savas; Kupesiz, Alphan; Lanfranchi, Arnalda; Lindemans, Caroline A.; Meisel, Roland; Michel, Gerard; Miranda, Nuno A. A.; Moraleda, Jose; Moshous, Despina; Pichler, Herbert; Rao, Kanchan; Sedlacek, Petr; Slatter, Mary; Soncini, Elena; Speckmann, Carsten; Sundin, Mikael; Toren, Amos; Vettenranta, Kim; Worth, Austen; Yesilipek, Mehmet A.; Zecca, Marco; Porta, Fulvio; Schulz, Ansgar; Veys, Paul; Fischer, Alain; Gennery, Andrew R. 分享 收藏
The role of galactomannan test results in the diagnosis of pediatric invasive aspergillosis Ozen, Seval; Ozdemir, Halil; Evren, Ebru; Taskin, Esra Cakmak; Arga, Gul; Konca, Hatice Kubra; Cakmakli, Hasan Fatih; Haskologlu, Sule; Okulu, Emel; Dincaslan, Handan; Ince, Elif; Ileri, Talia; Tacyildiz, Nurdan; Dogu, Figen; Us, Ebru; Karahan, Zeynep Ceren; Fitoz, Suat; Kendirli, Tanil; Kuloglu, Zarife; Tutar, Ercan; Ikinciogullari, Aydan; Unal, Emel; Ertem, Mehmet; Ince, Erdal; Ciftci, Ergin 分享 收藏
Impaired respiratory burst contributes to infections in PKC-deficient patients 呼吸爆发受损导致PKC缺陷患者感染 Neehus, Anna-Lena; Moriya, Kunihiko; Nieto-Patlan, Alejandro; Le Voyer, Tom; Levy, Romain; Ozen, Ahmet; Karakoc-Aydiner, Elif; Baris, Safa; Yildiran, Alisan; Altundag, Engin; Roynard, Manon; Haake, Kathrin; Migaud, Melanie; Dorgham, Karim; Gorochov, Guy; Abel, Laurent; Lachmann, Nico; Dogu, Figen; Haskologlu, Sule; Ince, Erdal; El-Benna, Jamel; Uzel, Gulbu; Kiykim, Ayca; Boztug, Kaan; Roderick, Marion R.; Shahrooei, Mohammad; Brogan, Paul A.; Abolhassani, Hassan; Hancioglu, Gonca; Parvaneh, Nima; Belot, Alexandre; Ikinciogullari, Aydan; Casanova, Jean-Laurent; Puel, Anne; Bustamante, Jacinta 分享 收藏
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child Ogishi, 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 Outcomes Bayram, 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
Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations Giardino, Giuliana; Sharapova, Svetlana O.; Ciznar, Peter; Dhalla, Fatima; Maragliano, Luca; Devi, Akella Radha Rama; Islamoglu, Candan; Ikinciogullari, Aydan; Haskologlu, Sule; Dogu, Figen; Hanna-Wakim, Rima; Dbaibo, Ghassan; Chou, Janet; Cirillo, Emilia; Borzacchiello, Carla; Kreins, Alexandra Y.; Worth, Austen; Rota, Ioanna A.; Marques, Jose G.; Sayitoglu, Muge; Firtina, Sinem; Mahdi, Moaffaq; Geha, Raif; Neven, Benedicte; Sousa, Ana E.; Benfenati, Fabio; Hollander, Georg A.; Davies, E. Graham; Pignata, Claudio 分享 收藏
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome (vol 217, e20191804, 2020) Beziat, Vivien; Tavernier, Simon J.; Chen, Yin-Huai; Ma, Cindy S.; Materna, Marie; Laurence, Arian; Staal, Jens; Aschenbrenner, Dominik; Roels, Lisa; Worley, Lisa; Claes, Kathleen; Gartner, Lisa; Kohn, Lisa A.; Bruyne, Marieke De; Schmitz-Abe, Klaus; Charbonnier, Louis-Marie; Keles, Sevgi; Nammour, Justine; Vladikine, Natasha; Renkilaraj, Majistor Raj Luxman Maglorius; Seeleuthner, Yoann; Migaud, Melanie; Rosain, Jeremie; Jeljeli, Mohamed; Boisson, Bertrand; Van Braeckel, Eva; Rosenfeld, Jill A.; Dai, Hongzheng; Burrage, Lindsay C.; Murdock, David R.; Lambrecht, Bart N.; Avettand-Fenoel, Veronique; Vogel, Tiphanie P.; Network, Undiagnosed Diseases; Esther, Charles R., Jr.; Haskologlu, Sule; Dogu, Figen; Ciznar, Peter; Boutboul, David; Ouachee-Chardin, Marie; Amourette, Jean; Lebras, Marie-Noelle; Gauvain, Clement; Tcherakian, Colas; Ikinciogullari, Aydan; Beyaert, Rudi; Abel, Laurent; Milner, Joshua D.; Grimbacher, Bodo; Couderc, Louis-Jean; Butte, Manish J.; Freeman, Alexandra F.; Catherinot, Emilie; Fieschi, Claire; Chatila, Talal A.; Tangye, Stuart G.; Uhlig, Holm H.; Haerynck, Filomeen; Casanova, Jean-Laurent; Puel, Anne 分享 收藏
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