未登录Retrospective analysis of hemophilia B in Turkey: identifying main characteristics and treatment options
Zulfikar, Bulent; Koc, Basak; Sahin, Fahri; Sasmaz, Hatice Ilgen; Kavakli, Kaan; Balkan, Can; Antmen, Ali Buelent; Akbayram, Sinan; Guvenc, Birol; Okan, Vahap; Turkkan, Emine; Albayrak, Canan; Albayrak, Davut; Sarper, Nazan; Celkan, Tuelin Tiraje; Ayyildiz, Orhan; Aksu, Salih; Patiroglu, Tuerkan; Salcioglu, Zafer; Gunes, Adalet Meral; Torun, Yasemin Altuner; Caliskan, Umran; Tokgoz, Huseyin; Ay, Yilmaz; Ozdemir, Gul Nihal; Sonmez, Mehmet; Unal, Ekrem; Oner, Ahmet Fayik; Guler, Nil; Kupesiz, Osman Alphan; Oren, Hale; Karaman, Serap; Unuvar, Ayegul; Dagli, Mehmet; Demir, Ahmet Muzaffer; Soker, Murat; Alioglu, Buelent; Kaya, Zuehre; Ayhan, Aylin Canbolat; Bicakci, Zafer; Aral, Yusuf Ziya; Ar, Muhlis Cem .png)
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收藏A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature (vol 44, 1, 2024)Lanz, Anna-Lisa; Erdem, Serife; Ozcan, Alper; Ceylaner, Gulay; Cansever, Murat; Ceylaner, Serdar; Conca, Raffaele; Magg, Thomas; Acuto, Oreste; Latour, Sylvain; Klein, Christoph; Patiroglu, Turkan; Unal, Ekrem; Eken, Ahmet; Hauck, Fabian 分享 收藏 A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the LiteratureLanz, Anna-Lisa; Erdem, Serife; Ozcan, Alper; Ceylaner, Gulay; Cansever, Murat; Ceylaner, Serdar; Conca, Raffaele; Magg, Thomas; Acuto, Oreste; Latour, Sylvain; Klein, Christoph; Patiroglu, Turkan; Unal, Ekrem; Eken, Ahmet; Hauck, Fabian 分享 收藏 Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis275例高IgE综合征和/或慢性粘膜皮肤念珠菌病患者的遗传分析Frede, Natalie; Rojas-Restrepo, Jessica; Caballero Garcia de Oteyza, Andres; Buchta, Mary; Huebscher, Katrin; Gamez-Diaz, Laura; Proietti, Michele; Saghafi, Shiva; Chavoshzadeh, Zahra; Soler-Palacin, Pere; Galal, Nermeen; Adeli, Mehdi; Aldave-Becerra, Juan Carlos; Al-Ddafari, Moudjahed Saleh; Ardenyz, Omur; Atkinson, T. Prescott; Kut, Fulya Bektas; Celmeli, Fatih; Rees, Helen; Kilic, Sara S.; Kirovski, Ilija; Klein, Christoph; Kobbe, Robin; Korganow, Anne-Sophie; Lilic, Desa; Lunt, Peter; Makwana, Niten; Metin, Ayse; Ozgur, Tuba Turul; Karakas, Ayse Akman; Seneviratne, Suranjith; Sherkat, Roya; Sousa, Ana Berta; Unal, Ekrem; Patiroglu, Turkan; Wahn, Volker; von Bernuth, Horst; Whiteford, Margo; Doffinger, Rainer; Jouhadi, Zineb; Grimbacher, Bodo 分享 收藏 Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells (vol 11, 1031, 2020)Lyszkiewicz, Marcin; Zietara, Natalia; Frey, Laura; Pannicke, Ulrich; Stern, Marcel; Liu, Yanshan; Fan, Yanxin; Puchalka, Jacek; Hollizeck, Sebastian; Somekh, Ido; Rohlfs, Meino; Yilmaz, Tugba; Unal, Ekrem; Karakukcu, Musa; Patiroglu, Turkan; Kellerer, Christina; Karasu, Ebru; Sykora, Karl-Walter; Lev, Atar; Simon, Amos; Somech, Raz; Roesler, Joachim; Hoenig, Manfred; Keppler, Oliver T.; Schwarz, Klaus; Klein, Christoph 分享 收藏 Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cellsLyszkiewicz, Marcin; Zietara, Natalia; Frey, Laura; Pannicke, Ulrich; Stern, Marcel; Liu, Yanshan; Fan, Yanxin; Puchalka, Jacek; Hollizeck, Sebastian; Somekh, Ido; Rohlfs, Meino; Yilmaz, Tugba; Unal, Ekrem; Karakukcu, Musa; Patiroglu, Turkan; Kellerer, Christina; Karasu, Ebru; Sykora, Karl-Walter; Lev, Atar; Simon, Amos; Somech, Raz; Roesler, Joachim; Hoenig, Manfred; Keppler, Oliver T.; Schwarz, Klaus; Klein, Christoph 分享 收藏 Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN diseaseRavell, Juan C.; Matsuda-Lennikov, Mami; Chauvin, Samuel D.; Zou, Juan; Biancalana, Matthew; Deeb, Sally J.; Price, Susan; Su, Helen C.; Notarangelo, Giulia; Jiang, Ping; Morawski, Aaron; Kanellopoulou, Chrysi; Binder, Kyle; Mukherjee, Ratnadeep; Anibal, James T.; Sellers, Brian; Zheng, Lixin; He, Tingyan; George, Alex B.; Pittaluga, Stefania; Powers, Astin; Kleiner, David E.; Kapuria, Devika; Ghany, Marc; Hunsberger, Sally; Cohen, Jeffrey I.; Uzel, Gulbu; Bergerson, Jenna; Wolfe, Lynne; Toro, Camilo; Gahl, William; Folio, Les R.; Matthews, Helen; Angelus, Pam; Chinn, Ivan K.; Orange, Jordan S.; Trujillo-Vargas, Claudia M.; Franco, Jose Luis; Orrego-Arango, Julio; Gutierrez-Hincapie, Sebastian; Patel, Niraj Chandrakant; Raymond, Kimiyo; Patiroglu, Turkan; Unal, Ekrem; Karakukcu, Musa; Day, Alexandre G. R.; Mehta, Pankaj; Masutani, Evan; De Ravin, Suk S.; Malech, Harry L.; Altan-Bonnet, Gregoire; Rao, V. Koneti; Mann, Matthias; Lenardo, Michael J. 分享 收藏 Abatacept as a Long-Term Targeted Therapy for LRBA DeficiencyKiykim, Ayca; Ogulur, Ismail; Dursun, Esra; Charbonnier, Louis Marie; Nain, Ercan; Cekic, Sukru; Dogruel, Dilek; Karaca, Neslihan Edeer; Cogurlu, Mujde Tuba; Bilir, Ozlem Arman; Cansever, Murat; Kapakli, Hasan; Baser, Dilek; Kasap, Nurhan; Kutlug, Seyhan; Altintas, Derya Ufuk; Al-Shaibi, Ahmad; Agrebi, Nourhen; Kara, Manolya; Guven, Ayla; Somer, Ayper; Aydogmus, Cigdem; Ayaz, Nuray Aktay; Metin, Ayse; Aydogan, Metin; Uncuoglu, Aysen; Patiroglu, Turkan; Yildiran, Alisan; Guner, Sukru Nail; Keles, Sevgi; Reisli, Ismail; Aksu, Guzide; Kutukculer, Necil; Kilic, Sara S.; Yilmaz, Mustafa; Karakoc-Aydiner, Elif; Lo, Bernice; Ozen, Ahmet; Chatila, Talal A.; Baris, Safa 分享 收藏 ILC3 deficiency and generalized ILC abnormalities in DOCK8-deficient patientsEken, Ahmet; Cansever, Murat; Okus, Fatma Zehra; Erdem, Serife; Nain, Ercan; Azizoglu, Zehra Busra; Haliloglu, Yesim; Karakukcu, Musa; Ozcan, Alper; Devecioglu, Omer; Aksu, Guzide; Arikan Ayyildiz, Zeynep; Topal, Erdem; Karakoc Aydiner, Elif; Kiykim, Ayca; Metin, Ayse; Cipe, Funda; Kaya, Aysenur; Artac, Hasibe; Reisli, Ismail; Guner, Sukru N.; Uygun, Vedat; Karasu, Gulsun; Donmez Altuntas, Hamiyet; Canatan, Halit; Oukka, Mohamed; Ozen, Ahmet; Chatila, Talal A.; Keles, Sevgi; Baris, Safa; Unal, Ekrem; Patiroglu, Turkan 分享 收藏 Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG DeficiencyFarmer, Jocelyn R.; Foldvari, Zsofia; Ujhazi, Boglarka; De Ravin, Suk See; Chen, Karin; Bleesing, Jack J. H.; Schuetz, Catharina; Al-Herz, Waleed; Abraham, Roshini S.; Joshi, Avni Y.; Costa-Carvalho, Beatriz T.; Buchbinder, David; Booth, Claire; Reiff, Andreas; Ferguson, Polly J.; Aghamohammadi, Asghar; Abolhassani, Hassan; Puck, Jennifer M.; Adeli, Mehdi; Cancrini, Caterina; Palma, Paolo; Bertaina, Alice; Locatelli, Franco; Di Matteo, Gigliola; Geha, Raif S.; Kanariou, Maria G.; Lycopoulou, Lilia; Tzanoudaki, Marianna; Sleasman, John W.; Parikh, Suhag; Pinero, Gloria; Fischer, Bernard M.; Dbaibo, Ghassan; Unal, Ekrem; Patiroglu, Turkan; Karakukcu, Musa; Al-Saad, Khulood Khalifa; Dilley, Meredith A.; Pai, Sung-Yun; Dutmer, Cullen M.; Gelfand, Erwin W.; Geier, Christoph B.; Eibl, Martha M.; Wolf, Hermann M.; Henderson, Lauren A.; Hazen, Melissa M.; Bonfim, Carmem; Wolska-Kusnierz, Beata; Butte, Manish J.; Hernandez, Joseph D.; Nicholas, Sarah K.; Stepensky, Polina; Chandrakasan, Shanmuganathan; Miano, Maurizio; Westermann-Clark, Emma; Goda, Vera; Krivan, Gergely; Holland, Steven M.; Fadugba, Olajumoke; Henrickson, Sarah E.; Ozen, Ahmet; Karakoc-Aydiner, Elif; Baris, Safa; Kiykim, Ayca; Bredius, Robbert; Hoeger, Birgit; Boztug, Kaan; Pashchenko, Olga; Neven, Benedicte; Moshous, Despina; de Villartay, Jean-Pierre; Bousfiha, Ahmed Aziz; Hill, Harry R.; Notarangelo, Luigi D.; Walter, Jolan E. 分享 收藏 Genetic Deficiency and Biochemical Inhibition of ITK Affect Human Th17, Treg, and Innate Lymphoid CellsEken, Ahmet; Cansever, Murat; Somekh, Ido; Mizoguchi, Yoko; Zietara, Natalia; Okus, Fatma Zehra; Erdem, Serife; Canatan, Halit; Akyol, Sefika; Ozcan, Alper; Karakukcu, Musa; Hollizeck, Sebastian; Rohlfs, Meino; Unal, Ekrem; Klein, Christoph; Patiroglu, Turkan 分享 收藏 Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent AcquisitionGrabowski, Piotr; Hesse, Sebastian; Hollizeck, Sebastian; Rohlfs, Meino; Behrends, Uta; Sherkat, Roya; Tamary, Hannah; Unal, Ekrem; Somech, Raz; Patiroglu, Turkan; Canzar, Stefan; Ten Bosch, Jutte van der Werff; Klein, Christoph; Rappsilber, Juri 分享 收藏 分享 收藏 Novel Mutations in RASGRP1 Are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma (vol 38, pg 699, 2018)Somekh, Ido; Marquardt, Benjamin; Liu, Yanshan; Rohlfs, Meino; Hollizeck, Sebastian; Karakukcu, Musa; Unal, Ekrem; Yilmaz, Ebru; Patiroglu, Turkan; Cansever, Murat; Frizinsky, Shirly; Vishnvenskia-Dai, Vicktoria; Rechavi, Erez; Stauber, Tali; Simon, Amos J.; Lev, Atar; Klein, Christoph; Kotlarz, Daniel; Somech, Raz 分享 收藏 Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced LymphomaSomekh, Ido; Marquardt, Benjamin; Liu, Yanshan; Rohlfs, Meino; Hollizeck, Sebastian; Karakukcu, Musa; Unal, Ekrem; Yilmaz, Ebru; Patiroglu, Turkan; Cansever, Murat; Frizinsky, Shirly; Vishnvenska-Dai, Vicktoria; Rechavi, Erez; Stauber, Tali; Simon, Amos J.; Lev, Atar; Klein, Christoph; Kotlarz, Daniel; Somech, Raz 分享 收藏 Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome PatientsChiang, Samuel C. C.; Wood, Stephanie M.; Tesi, Bianca; Akar, Himmet Haluk; Al-Herz, Waleed; Ammann, Sandra; Belen, Fatma Burcu; Caliskan, Umran; Kaya, Zuhre; Lehmberg, Kai; Patiroglu, Turkan; Tokgoz, Huseyin; Unuvar, Aysegul; Introne, Wendy J.; Henter, Jan-Inge; Nordenskjold, Magnus; Ljunggren, Hans-Gustaf; Meeths, Marie; Ehl, Stephan; Krzewski, Konrad; Bryceson, Yenan T. 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 Nonacog beta pegol (N9-GP) in haemophilia B: A multinational phase III safety and efficacy extension trial (paradigm™4)血友病B中的Nonacog beta pegol (N9-GP): 一项跨国III期安全性和有效性扩展试验 (范例™4)Young, Guy; Collins, Peter W.; Colberg, Torben; Chuansumrit, Ampaiwan; Hanabusa, Hideji; Lentz, Steven R.; Mahlangu, Johnny; Mauser-Bunschoten, Evelien P.; Negrier, Claude; Oldenburg, Johannes; Patiroglu, Turkan; Santagostino, Elena; Tehranchi, Ramin; Zak, Marek; Karim, Faraizah Abdul 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 分享 收藏 
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