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收藏MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter CohortMHC II类缺陷: 大型多中心队列的临床,免疫学和遗传学见解
Koksal, Zeynep Gulec; Eltan, Sevgi Bilgic; Topyildiz, Ezgi; Sezer, Ahmet; Keles, Sevgi; Celik, Figen Celebi; Kont, Aylin Ozhan; Karaaslan, Betul Gemici; Sefer, Asena Pinar; Karali, Zuhal; Arik, Elif; Yucel, Esra Ozek; Akcal, Omer; Karakurt, Leman Tuba; Altunbas, Melek Yorgun; Yalcin, Koray; Uygun, Vedat; Ozek, Gulcihan; Babayeva, Royala; Aydogmus, Cigdem; Ozcan, Dilek; Cavkaytar, Ozlem; Keskin, Ozlem; Kilic, Sara Sebnem; Kiykim, Ayca; Arikoglu, Tugba; Genel, Ferah; Gulez, Nesrin; Guner, Sukru Nail; Karaca, Neslihan Edeer; Reisli, Ismail; Kutukculer, Necil; Altintas, Derya Ufuk; Ozen, Ahmet; Aydiner, Elif Karakoc; Baris, Safa
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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Transient hypogammaglobulinemia of infancy and unclassified syndromic immunodeficiencies are highly common in oesophageal atresia patients
Ulman, Hilmican; Ayguen, Ayse; Caglar, Deniz; Dokumcue, Zafer; Topyildiz, Ezgi; Erdener, Ata; Aksu, Guezide; Karaca, Neslihan Edeer; Ozcan, Coskun; Kutukcueler, Necil
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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DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation (vol 13, 612, 2012)
Jabara, Haifa H.; McDonald, Douglas R.; Janssen, Erin; Massaad, Michel J.; Ramesh, Narayanaswamy; Borzutzky, Arturo; Rauter, Ingrid; Benson, Halli; Schneider, Lynda; Baxi, Sachin; Recher, Mike; Notarangelo, Luigi D.; Wakim, Rima; Dbaibo, Ghassan; Dasouki, Majed; Al-Herz, Waleed; Barlan, Isil; Baris, Safa; Kutukculer, Necil; Ochs, Hans D.; Plebani, Alessandro; Kanariou, Maria; Lefranc, Gerard; Reisli, Ismail; Fitzgerald, Katherine A.; Golenbock, Douglas; Manis, John; Keles, Sevgi; Ceja, Reuben; Chatila, Talal A.; Geha, Raif S.
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收藏Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variants
Aykut, Ayca; Durmaz, Asude; Karaca, Neslihan; Gulez, Nesrin; Genel, Ferah; Celmeli, Fatih; Ozturk, Gulyuz; Atay, Didem; Aydogmus, Cigdem; Kiykim, Ayca; Aksu, Guzide; Kutukculer, Necil
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收藏Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-TelangiectasiaIgA的简单测量可预测共济失调-毛细血管扩张症的免疫力和死亡率
Zielen, Stefan; Duecker, Ruth Pia; Woelke, Sandra; Donath, Helena; Bakhtiar, Sharhzad; Buecker, Aileen; Kreyenberg, Hermann; Huenecke, Sabine; Bader, Peter; Mahlaoui, Nizar; Ehl, Stephan; El-Helou, Sabine M.; Pietrucha, Barbara; Plebani, Alessandro; van der Flier, Michiel; van Aerde, Koen; Kilic, Sara S.; Reda, Shereen M.; Kostyuchenko, Larysa; McDermott, Elizabeth; Galal, Nermeen; Pignata, Claudio; Perez, Juan Luis Santos; Laws, Hans-Juergen; Niehues, Tim; Kutukculer, Necil; Seidel, Markus G.; Marques, Laura; Ciznar, Peter; Edgar, John David M.; Soler-Palacin, Pere; von Bernuth, Horst; Krueger, Renate; Meyts, Isabelle; Baumann, Ulrich; Kanariou, Maria; Grimbacher, Bodo; Hauck, Fabian; Graf, Dagmar; Granado, Luis Ignacio Gonzalez; Prader, Seraina; Reisli, Ismail; Slatter, Mary; Rodriguez-Gallego, Carlos; Arkwright, Peter D.; Bethune, Claire; Deripapa, Elena; Sharapova, Svetlana O.; Lehmberg, Kai; Davies, E. Graham; Schuetz, Catharina; Kindle, Gerhard; Schubert, Ralf
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收藏Consensus Middle East and North Africa Registry on Inborn Errors of Immunity
Aghamohammadi, Asghar; Rezaei, Nima; Yazdani, Reza; Delavari, Samaneh; Kutukculer, Necil; Topyildiz, Ezgi; Ozen, Ahmet; Baris, Safa; Karakoc-Aydiner, Elif; Kilic, Sara Sebnem; Kose, Hulya; Gulez, Nesrin; Genel, Ferah; Reisli, Ismail; Djenouhat, Kamel; Tahiat, Azzeddine; Boukari, Rachida; Ladj, Samir; Belbouab, Reda; Ferhani, Yacine; Belaid, Brahim; Djidjik, Reda; Kechout, Nadia; Attal, Nabila; Saidani, Khalissa; Barbouche, Ridha; Bousfiha, Aziz; Sobh, Ali; Rizk, Ragheed; Elnagdy, Marwa H.; Al-Ahmed, Mona; Al-Tamemi, Salem; Nasrullayeva, Gulnara; Adeli, Mehdi; Al-Nesf, Maryam; Hassen, Amel; Mehawej, Cybel; Irani, Carla; Megarbane, Andre; Quinn, Jessica; Marodi, Laszlo; Modell, Vicki; Modell, Fred; Al-Herz, Waleed; Geha, Raif S.; Abolhassani, Hassan
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收藏Human immune disorder associated with homozygous hypomorphic mutation affecting MALT1B splice variant
Kutukculer, Necil; Seeholzer, Thomas; O'Neill, Thomas J.; Grass, Carina; Aykut, Ayca; Karaca, Neslihan Edeer; Durmaz, Asude; Cogulu, Ozgur; Aksu, Guzide; Gehring, Torben; Gewies, Andreas; Krappmann, Daniel
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收藏the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of Translation (vol 37, pg 158, 2020)
Moriya, Kunihiko; Kadowaki, Saori; Nakano, Tomohiro; Akarcan, Sanem E.; Kutukculer, Necil; Aksu, Guzide; Sasahara, Yoji; Kure, Shigeo; Ohnishi, Hidenori; Casanova, Jean-Laurent; Puel, Anne; Fukao, Toshiyuki
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收藏Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score
Tesch, Victoria Katharina; Abolhassani, Hassan; Shadur, Bella; Zobel, Joachim; Mareika, Yuliya; Sharapova, Svetlana; Karakoc-Aydiner, Elif; Riviere, Jacques G.; Garcia-Prat, Marina; Moes, Nicolette; Haerynck, Filomeen; Gonzales-Granado, Luis I.; Santos Perez, Juan Luis; Mukhina, Anna; Shcherbina, Anna; Aghamohammadi, Asghar; Hammarstrom, Lennart; Dogu, Figen; Haskologlu, Sule; Ikinciogullari, Aydan I.; Bal, Sevgi Kostel; Baris, Safa; Kilic, Sara Sebnem; Karaca, Neslihan Edeer; Kutukculer, Necil; Girschick, Hermann; Kolios, Antonios; Keles, Sevgi; Uygun, Vedat; Stepensky, Polina; Worth, Austen; van Montfrans, Joris M.; Peters, Anke M. J.; Meyts, Isabelle; Adeli, Mehdi; Marzollo, Antonio; Padem, Nurcicek; Khojah, Amer M.; Chavoshzadeh, Zahra; Stefanija, Magdalena Avbelj; Bakhtiar, Shahrzad; Florkin, Benoit; Meeths, Marie; Gamez, Laura; Grimbacher, Bodo; Seppanen, Mikko R. J.; Lankester, Arjan; Gennery, Andrew R.; Seidel, Markus G.
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收藏The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation
Moriya, Kunihiko; Kadowaki, Saori; Nakano, Tomohiro; Akarcan, Sanem E.; Kutukculer, Necil; Aksu, Guzide; Sasahara, Yoji; Kure, Shigeo; Ohnishi, Hidenori; Casanova, Jean-Laurent; Puel, Anne; Fukao, Toshiyuki
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收藏The evaluation of malignancies in Turkish primary immunodeficiency patients; a multicenter study
Cekic, Sukru; Metin, Ayse; Aytekin, Caner; Karaca, Neslihan Edeer; Baris, Safa; Karali, Yasin; Kiykim, Ayca; Aydiner, Elif Karakoc; Ozen, Ahmet; Aslan, Torehan; Sevinir, Betul; Aksu, Guzide; Kutukculer, Necil; Kilic, Sara Sebnem
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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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