未登录Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre
Karaatmaca, Betul; Cagdas, Deniz; Esenboga, Saliha; Erman, Baran; Tan, Cagman; Ozgur, Tuba Turul; Boztug, Kaan; van der Burg, Mirjam; Sanal, Ozden; Tezcan, Ilhan .png)
分享.png)
收藏分享 收藏 分享 收藏 Diversity in Serine/Threonine Protein Kinase-4 Deficiency and Review of the LiteratureCagdas, Deniz; Halacli, Sevil Oskay; Tan, Cagman; Esenboga, Saliha; Karaatmaca, Bet u l; Cetinkaya, P. i nar Gur; -Hayta, Burcu Balc i; Ayhan, Arzu; Uner, Aysegul; Orhan, Diclehan; Boztug, Kaan; Ozen, Seza; Topaloglu, Rezan; Sanal, Ozden; Tezcan, Ilhan 分享 收藏 Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency人类IL-21受体缺陷症的基因组谱和表型异质性Cagdas, Deniz; Mayr, Daniel; Baris, Safa; Worley, Lisa; Langley, David B.; Metin, Ayse; Aytekin, Elif Soyak; Atan, Raziye; Kasap, Nurhan; Bal, Sevgi Koestel; Dmytrus, Jasmin; Heredia, Raul Jimenez; Karasu, Gulsun; Torun, Selda Hancerli; Toyran, Muge; Karakoc-Aydiner, Elif; Christ, Daniel; Kuskonmaz, Baris; Uckan-Cetinkaya, Duygu; Uner, Aysegul; Oberndorfer, Felicitas; Schiefer, Ana-Iris; Uzel, Gulbu; Deenick, Elissa K.; Keller, Baerbel; Warnatz, Klaus; Neven, Benedicte; Durandy, Anne; Sanal, Ozden; Ma, Cindy S.; Ozen, Ahmet; Stepensky, Polina; Tezcan, Ilhan; Boztug, Kaan; Tangye, Stuart G. 分享 收藏 A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA DefectsCagdas, Deniz; Halacli, Sevil Oskay; Tan, Cagman; Lo, Bernice; Cetinkaya, Pinar Gur; Esenboga, Saliha; Karaatmaca, Betuel; Matthews, Helen; Balci-Hayta, Burcu; Arikoglu, Tuba; Ezgu, Fatih; Aladag, Elifcan; Saltik-Temizel, Inci N.; Demir, Huelya; Kuskonmaz, Baris; Okur, Visal; Gumruk, Fatma; Goker, Hakan; Cetinkaya, Duygu; Boztug, Kaan; Lenardo, Michael; Sanal, Oezden; Tezcan, Ilhan 分享 收藏 Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 DeficiencyAydin, Susanne E.; Freeman, Alexandra F.; Al-Herz, Waleed; Al-Mousa, Hamoud A.; Arnaout, Rand K.; Aydin, Roland C.; Barlogis, Vincent; Belohradsky, Bernd H.; Bonfim, Carmem; Bredius, Robbert G.; Chu, Julia I.; Ciocarlie, Oana C.; Dogu, Figen; Gaspar, Hubert B.; Geha, Raif S.; Gennery, Andrew R.; Hauck, Fabian; Hawwari, Abbas; Hickstein, Dennis D.; Hoenig, Manfred; Ikinciogullari, Aydan; Klein, Christoph; Kumar, Ashish; Ifversen, Marianne R. S.; Matthes, Susanne; Metin, Ayse; Neven, Benedicte; Pai, Sung-Yun; Parikh, Suhag H.; Picard, Capucine; Renner, Ellen D.; Sanal, Ozden; Schulz, Ansgar S.; Schuster, Friedhelm; Shah, Nirali N.; Shereck, Evan B.; Slatter, Mary A.; Su, Helen C.; van Montfrans, Joris; Woessmann, Wilhelm; Ziegler, John B.; Albert, Michael H. 分享 收藏 分享 收藏 ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the OutcomeCagdas, Deniz; Cetinkaya, Pinar Gur; Karaatmaca, Betul; Esenboga, Saliha; Tan, Cagman; Yilmaz, Togay; Gumus, Ersin; Baris, Safa; Kuskonmaz, Baris; Ozgur, Tuba Turul; Bali, Pawan; Santisteban, Ines; Orhan, Diclehan; Yuce, Aysel; Cetinkaya, Duygu; Boztug, Kaan; Hershfield, Michael; Sanal, Ozden; Tezcan, Ilhan 分享 收藏 分享 收藏 Patients with Primary Immunodeficiencies Are a Reservoir of Poliovirus and a Risk to Polio Eradication原发性免疫缺陷患者是脊髓灰质炎病毒的储存库，有根除脊髓灰质炎的风险Aghamohammadi, Asghar; Abolhassani, Hassan; Kutukculer, Necil; Wassilak, Steve G.; Pallansch, Mark A.; Kluglein, Samantha; Quinn, Jessica; Sutter, Roland W.; Wang, Xiaochuan; Sanal, Ozden; Latysheva, Tatiana; Ikinciogullari, Aydan; Bernatowska, Ewa; Tuzankina, Irina A.; Costa-Carvalho, Beatriz T.; Luis Franco, Jose; Somech, Raz; Karakoc-Aydiner, Elif; Singh, Surjit; Bezrodnik, Liliana; Espinosa-Rosales, Francisco J.; Shcherbina, Anna; Lau, Yu-Lung; Nonoyama, Shigeaki; Modell, Fred; Modell, Vicki; Barbouche, Mohamed-Ridha; McKinlay, Mark A. 分享 收藏 分享 收藏 分享 收藏 RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamicsSalzer, Elisabeth; Cagdas, Deniz; Hons, Miroslav; Mace, Emily M.; Garncarz, Wojciech; Petronczki, Ozlem Yuce; Platzer, Rene; Pfajfer, Laurene; Bilic, Ivan; Ban, Sol A.; Willmann, Katharina L.; Mukherjee, Malini; Supper, Verena; Hsu, Hsiang Ting; Banerjee, Pinaki P.; Sinha, Papiya; McClanahan, Fabienne; Zlabinger, Gerhard J.; Pick, Winfried F.; Gribben, John G.; Stockinger, Hannes; Bennett, Keiryn L.; Huppa, Johannes B.; Dupre, Loic; Sanal, Ozden; Jager, Ulrich; Sixt, Michael; Tezcan, Ilhan; Orange, Jordan S.; Boztug, Kaan 分享 收藏 ISG15 deficiency and increased viral resistance in humans but not miceSpeer, Scott D.; Li, Zhi; Buta, Sofija; Payelle-Brogard, Beatrice; Qian, Li; Vigant, Frederic; Rubino, Erminia; Gardner, Thomas J.; Wedeking, Tim; Hermann, Mark; Duehr, James; Sanal, Ozden; Tezcan, Ilhan; Mansouri, Nahal; Tabarsi, Payam; Mansouri, Davood; Francois-Newton, Veronique; Daussy, Coralie F.; Rodriguez, Marisela R.; Lenschow, Deborah J.; Freiberg, Alexander N.; Tortorella, Domenico; Piehler, Jacob; Lee, Benhur; Garcia-Sastre, Adolfo; Pellegrini, Sandra; Bogunovic, Dusan 分享 收藏 Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association与破坏寡聚化和细胞骨架关联的纯合CORO1A突变相关的复发性病毒感染Yee, Christina S.; Massaad, Michel J.; Bainter, Wayne; Ohsumi, Toshiro K.; Foeger, Niko; Chan, Andrew C.; Akarsu, Nurten A.; Aytekin, Caner; Ayvaz, Deniz Cagdas; Tezcan, Ilhan; Sanal, Ozden; Geha, Raif S.; Chou, Janet 分享 收藏 The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency64例胞质分裂8缺乏症患者的扩展临床表型Engelhardt, Karin R.; Gertz, Michael E.; Keles, Sevgi; Schaeffer, Alejandro A.; Sigmund, Elena C.; Glocker, Cristina; Saghafi, Shiva; Pourpak, Zahra; Ceja, Ruben; Sassi, Atfa; Graham, Laura E.; Massaad, Michel J.; Mellouli, Fethi; Ben-Mustapha, Imen; Khemiri, Monia; Kilic, Sara Sebnem; Etzioni, Amos; Freeman, Alexandra F.; Thiel, Jens; Schulze, Ilka; Al-Herz, Waleed; Metin, Ayse; Sanal, Oezden; Tezcan, Ilhan; Yeganeh, Mehdi; Niehues, Tim; Dueckers, Gregor; Weinspach, Sebastian; Patiroglu, Turkan; Unal, Ekrem; Dasouki, Majed; Yilmaz, Mustafa; Genel, Ferah; Aytekin, Caner; Kutukculer, Necil; Somer, Ayper; Kilic, Mehmet; Reisli, Ismail; Camcioglu, Yildiz; Gennery, Andrew R.; Cant, Andrew J.; Jones, Alison; Gaspar, Bobby H.; Arkwright, Peter D.; Pietrogrande, Maria C.; Baz, Zeina; Al-Tamemi, Salem; Lougaris, Vassilios; Lefranc, Gerard; Megarbane, Andre; Boutros, Jeannette; Galal, Nermeen; Bejaoui, Mohamed; Barbouche, Mohamed-Ridha; Geha, Raif S.; Chatila, Talal A.; Grimbacher, Bodo 分享 收藏 Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21RErman, Baran; Bilic, Ivan; Hirschmugl, Tatjana; Salzer, Elisabeth; Cagdas, Deniz; Esenboga, Saliha; Akcoren, Zuhal; Sanal, Ozden; Tezcan, Ilhan; Boztug, Kaan 分享 收藏 Inherited and acquired immunodeficiencies underlying tuberculosis in childhoodBoisson-Dupuis, Stephanie; Bustamante, Jacinta; El-Baghdadi, Jamila; Camcioglu, Yildiz; Parvaneh, Nima; El Azbaoui, Safaa; Agader, Aomar; Hassani, Amal; El Hafidi, Naima; Mrani, Nidal Alaoui; Jouhadi, Zineb; Ailal, Fatima; Najib, Jilali; Reisli, Ismail; Zamani, Adil; Yosunkaya, Sebnem; Gulle-Girit, Saniye; Yildiran, Alisan; Cipe, Funda Erol; Torun, Selda Hancerli; Metin, Ayse; Atikan, Basak Yildiz; Hatipoglu, Nevin; Aydogmus, Cigdem; Kilic, Sara Sebnem; Dogu, Figen; Karaca, Neslihan; Aksu, Guzide; Kutukculer, Necil; Keser-Emiroglu, Melike; Somer, Ayper; Tanir, Gonul; Aytekin, Caner; Adimi, Parisa; Mahdaviani, Seyed Alireza; Mamishi, Setareh; Bousfiha, Aziz; Sanal, Ozden; Mansouri, Davood; Casanova, Jean-Laurent; Abel, Laurent 分享 收藏 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
