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收藏Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants原发性免疫调节障碍 (PIRD): 扩大土耳其的突变谱并鉴定出16种新变异
Aykut, Ayca; Durmaz, Asude; Karaca, Neslihan; Gulez, Nesrin; Genel, Ferah; Celmeli, Fatih; Cogurlu, M. Tuba; Akcan, Mediha; Cicek, Dilek; Cipe, Funda Erol; Kiykim, Ayca; Yildiran, Alisan; Unluhizarci, Kursad; Kilic, Sara Sebnem; Aksu, Guzide; Ardeniz, Omur; Kutukculer, Necil
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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
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收藏Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency
Taghizade, 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
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收藏Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency
Levy, Romain; Gothe, Florian; Momenilandi, Mana; Magg, Thomas; Materna, Marie; Peters, Philipp; Raedler, Johannes; Philippot, Quentin; Rack-Hoch, Anita Lena; Langlais, David; Bourgey, Mathieu; Lanz, Anna-Lisa; Ogishi, Masato; Rosain, Jeremie; Martin, Emmanuel; Latour, Sylvain; Vladikine, Natasha; Distefano, Marco; Khan, Taushif; Rapaport, Franck; Schulz, Marian S.; Holzer, Ursula; Fasth, Anders; Sogkas, Georgios; Speckmann, Carsten; Troilo, Arianna; Bigley, Venetia; Roppelt, Anna; Dinur-Schejter, Yael; Toker, Ori; Martinsen, Karen Helene Bronken; Sherkat, Roya; Somekh, Ido; Somech, Raz; Shouval, Dror S.; Kuehl, Joern-Sven; Ip, Winnie; McDermott, Elizabeth M.; Cliffe, Lucy; Ozen, Ahmet; Baris, Safa; Rangarajan, Hemalatha G.; Jouanguy, Emmanuelle; Puel, Anne; Bustamante, Jacinta; Alyanakian, Marie-Alexandra; Fusaro, Mathieu; Wang, Yi; Kong, Xiao-Fei; Cobat, Aurelie; Boutboul, David; Castelle, Martin; Aguilar, Claire; Hermine, Olivier; Cheminant, Morgane; Suarez, Felipe; Yildiran, Alisan; Bousfiha, Aziz; Al-Mousa, Hamoud; Alsohime, Fahad; Cagdas, Deniz; Abraham, Roshini S.; Knutsen, Alan P.; Fevang, Borre; Bhattad, Sagar; Kiykim, Ayca; Erman, Baran; Arikoglu, Tugba; Unal, Ekrem; Kumar, Ashish; Geier, Christoph B.; Baumann, Ulrich; Neven, Benedicte; Rohlfs, Meino; Walz, Christoph; Abel, Laurent; Malissen, Bernard; Marr, Nico; Klein, Christoph; Casanova, Jean-Laurent; Hauck, Fabian; Beziat, Vivien
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收藏Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiencyLRBA缺乏与CTLA-4不足患者CTLA-4-dependent生物学缺陷水平的比较
Catak, Mehmet C.; Akcam, Bengu; Eltan, Sevgi Bilgic; Babayeva, Royala; Karakus, Ibrahim S.; Akgun, Gamze; Baser, Dilek; Bulutoglu, Alper; Bayram, Feyza; Kasap, Nurhan; Kiykim, Ayca; Hancioglu, Gonca; Karadag, Sefika I. Kokcu; Demirkol, Yasemin Kendir; Ozen, Selime; Cekic, Sukru; Ozcan, Dilek; Karaca, Neslihan Edeer; Sasihuseyinoglu, Ayse S.; Cansever, Murat; Yucel, Esra Ozek; Tamay, Zeynep; Altintas, Derya U.; Aydogmus, Cigdem; Celmeli, Fatih; Cokugras, Haluk; Gulez, Nesrin; Genel, Ferah; Metin, Ayse; Guner, Sukru N.; Kutukculer, Necil; Keles, Sevgi; Reisli, Ismail; Kilic, Sara S.; Yildiran, Alisan; Karakoc-Aydiner, Elif; Lo, Bernice; Ozen, Ahmet; Baris, Safa
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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
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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
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收藏Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency
Kiykim, 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
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收藏LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency
Rosain, Jeremie; Deswarte, Caroline; Hancioglu, Gonca; Oleaga-Quintas, Carmen; Kutlug, Seyhan; Kartal, Ibrahim; Kuzu, Isinsu; Toullec, Laurie; Tusseau, Maud; Casanova, Jean-Laurent; Yildiran, Alisan; Bustamante, Jacinta
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收藏Inherited and acquired immunodeficiencies underlying tuberculosis in childhood
Boisson-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
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收藏TLR3 deficiency in herpes simplex encephalitis High allelic heterogeneity and recurrence risk
Lim, Hye Kyung; Seppanen, Mikko; Hautala, Timo; Ciancanelli, Michael J.; Itan, Yuval; Lafaille, Fabien G.; Dell, William; Lorenzo, Lazaro; Byun, Minji; Pauwels, Elodie; Ronnelid, Ylva; Cai, Xin; Boucherit, Soraya; Jouanguy, Emmanuelle; Paetau, Anders; Lebon, Pierre; Rozenberg, Flore; Tardieu, Marc; Abel, Laurent; Yildiran, Alisan; Vergison, Anne; Roivainen, Reina; Etzioni, Amos; Tienari, Pentti J.; Casanova, Jean-Laurent; Zhang, Shen-Ying
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收藏BCG vaccination in patients with severe combined immunodeficiency: Complications, risks, and vaccination policies
Marciano, Beatriz E.; Huang, Chiung-Yu; Joshi, Gyan; Rezaei, Nima; Carvalho, Beatriz Costa; Allwood, Zoe; Ikinciogullari, Aydan; Reda, Shereen M.; Gennery, Andrew; Thon, Vojtech; Espinosa-Rosales, Francisco; Al-Herz, Waleed; Porras, Oscar; Shcherbina, Anna; Szaflarska, Anna; Kilic, Sebnem; Franco, Jose L.; Gomez Raccio, Andrea C.; Roxo, Persio, Jr.; Esteves, Isabel; Galal, Nermeen; Grumach, Anete Sevciovic; Al-Tamemi, Salem; Yildiran, Alisan; Orellana, Julio C.; Yamada, Masafumi; Morio, Tomohiro; Liberatore, Diana; Ohtsuka, Yoshitoshi; Lau, Yu-Lung; Nishikomori, Ryuta; Torres-Lozano, Carlos; Mazzucchelli, Juliana T. L.; Vilela, Maria M. S.; Tavares, Fabiola S.; Cunha, Luciana; Pinto, Jorge A.; Espinosa-Padilla, Sara E.; Hernandez-Nieto, Leticia; Elfeky, Reem A.; Ariga, Tadashi; Toshio, Heike; Dogu, Figen; Cipe, Funda; Formankova, Renata; Enriqueta Nunez-Nunez, M.; Bezrodnik, Liliana; Marques, Jose Goncalo; Pereira, Maria I.; Listello, Viviana; Slatter, Mary A.; Nademi, Zohreh; Kowalczyk, Danuta; Fleisher, Thomas A.; Davies, Graham; Neven, Benedicte; Rosenzweig, Sergio D.
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收藏Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients
Koker, Mustafa Yavuz; Camcioglu, Yildiz; van Leeuwen, Karin; Kilic, Sara Sebnem; Barlan, Isil; Yilmaz, Mustafa; Metin, Ayse; de Boer, Martin; Avcilar, Huseyin; Patiroglu, Turkan; Yildiran, Alisan; Yegin, Olcay; Tezcan, Ilhan; Sanal, Ozden; Roos, Dirk
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收藏HLA class I deficiency: Clinical, immunological and genetic characteristics of three patient
Ikinciogullari, A.; Dogu, F.; Fricker, D.; Yuksek, M.; Bozdogan, G.; Aytekin, C.; Yildiran, A.; Ciftci, E.; Can, Z.; Babacan, E.; De la Salle, H.
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