A Novel Mutation in a Child with Atypical Wiskott-Aldrich Syndrome Complicated by Cytomegalovirus Infection

por Kaya, Zühre, Muluk, Cansu, Haskoloğlu, Şule, Tufan, Lale Ş.
Publicado 2019

Eosinophilia and Increased Immunoglobulin E: Is It Really a Primary Immunodeficiency? A Diagnostic Challenge

por Öztürk, Gökcan, Parlar, Tutku, Haskoloğlu, Şule, Baskın, Kübra, Deveci, Nazlı, Çiftçi, Ergin, Doğu, Figen, İkincioğulları, Aydan
Publicado 2023

Clinical Features and Outcomes of 23 Patients with Wiskott-Aldrich Syndrome: A Single-Center Experience

por Haskoloğlu, Şule, Öztürk, Ayşenur, Öztürk, Gökcan, Kostel Bal, Sevgi, İslamoğlu, Candan, Baskın, Kübra, Ceylaner, Serdar, Tufan Satıroğlu, Lale, Doğu, Figen, İkincioğulları, Aydan
Publicado 2020

Effects of Umbilical Cord Management Strategies on Stem Cell Transfusion, Delivery Room Adaptation, and Cerebral Oxygenation in Term and Late Preterm Infants

por Okulu, Emel, Haskologlu, Sule, Guloglu, Deniz, Kostekci, Ezgi, Erdeve, Omer, Atasay, Begum, Koc, Acar, Soylemez, Feride, Dogu, Figen, Ikinciogullari, Aydan, Arsan, Saadet
Publicado 2022

Multiple Presentations of LRBA Deficiency: a Single-Center Experience

por Kostel Bal, Sevgi, Haskologlu, Sule, Serwas, Nina K., Islamoglu, Candan, Aytekin, Caner, Kendirli, Tanil, Kuloglu, Zarife, Yavuz, Gulsan, Dalgic, Buket, Siklar, Zeynep, Kansu, Aydan, Ensari, Arzu, Boztug, Kaan, Dogu, Figen, Ikinciogullari, Aydan
Publicado 2017

Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity

por Willmann, Katharina L., Klaver, Stefanie, Doğu, Figen, Santos-Valente, Elisangela, Garncarz, Wojciech, Bilic, Ivan, Mace, Emily, Salzer, Elisabeth, Domínguez Conde, Cecilia, Sic, Heiko, Májek, Peter, Banerjee, Pinaki P., Vladimer, Gregory I., Haskoloğlu, Şule, Gökalp Bolkent, Musa, Küpesiz, Alphan, Condino-Neto, Antonio, Colinge, Jacques, Superti-Furga, Giulio, Pickl, Winfried F., van Zelm, Menno C., Eibel, Hermann, Orange, Jordan S., Ikincioğulları, Aydan, Boztuğ, Kaan
Publicado 2014

Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations

por Giardino, Giuliana, Sharapova, Svetlana O., Ciznar, Peter, Dhalla, Fatima, Maragliano, Luca, Radha Rama Devi, Akella, 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, José G., Sayitoglu, Muge, Firtina, Sinem, Mahdi, Moaffaq, Geha, Raif, Neven, Bénédicte, Sousa, Ana E., Benfenati, Fabio, Hollander, Georg A., Davies, E. Graham, Pignata, Claudio
Publicado 2021

Impaired respiratory burst contributes to infections in PKCδ-deficient patients

por Neehus, Anna-Lena, Moriya, Kunihiko, Nieto-Patlán, Alejandro, Le Voyer, Tom, Lévy, Romain, Özen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Yildiran, Alisan, Altundag, Engin, Roynard, Manon, Haake, Kathrin, Migaud, Mélanie, Dorgham, Karim, Gorochov, Guy, Abel, Laurent, Lachmann, Nico, Dogu, Figen, Haskologlu, Sule, İnce, 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
Publicado 2021

Combined immunodeficiency and Epstein-Barr virus–induced B cell malignancy in humans with inherited CD70 deficiency

por Abolhassani, Hassan, Edwards, Emily S.J., Ikinciogullari, Aydan, Jing, Huie, Borte, Stephan, Buggert, Marcus, Du, Likun, Matsuda-Lennikov, Mami, Romano, Rosa, Caridha, Rozina, Bade, Sangeeta, Zhang, Yu, Frederiksen, Juliet, Fang, Mingyan, Bal, Sevgi Kostel, Haskologlu, Sule, Dogu, Figen, Tacyildiz, Nurdan, Matthews, Helen F., McElwee, Joshua J., Gostick, Emma, Price, David A., Palendira, Umaimainthan, Aghamohammadi, Asghar, Boisson, Bertrand, Rezaei, Nima, Karlsson, Annika C., Lenardo, Michael J., Casanova, Jean-Laurent, Hammarström, Lennart, Tangye, Stuart G., Su, Helen C., Pan-Hammarström, Qiang
Publicado 2017

Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

por Béziat, 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., De Bruyne, Marieke, Schmitz-Abe, Klaus, Charbonnier, Louis-Marie, Keles, Sevgi, Nammour, Justine, Vladikine, Natasha, Luxman Maglorius Renkilaraj, Majistor Raj, Seeleuthner, Yoann, Migaud, Mélanie, Rosain, Jérémie, Jeljeli, Mohamed, Boisson, Bertrand, Van Braeckel, Eva, Rosenfeld, Jill A., Dai, Hongzheng, Burrage, Lindsay C., Murdock, David R., Lambrecht, Bart N., Avettand-Fenoel, Véronique, Vogel, Tiphanie P., Network, Undiagnosed Diseases, Esther, Charles R., Haskologlu, Sule, Dogu, Figen, Ciznar, Peter, Boutboul, David, Ouachée-Chardin, Marie, Amourette, Jean, Lebras, Marie-Noëlle, Gauvain, Clément, Tcherakian, Colas, Ikinciogullari, Aydan, Beyaert, Rudi, Abel, Laurent, Milner, Joshua D., Grimbacher, Bodo, Couderc, Louis-Jean, Butte, Manish J., Freeman, Alexandra F., Catherinot, Émilie, Fieschi, Claire, Chatila, Talal A., Tangye, Stuart G., Uhlig, Holm H., Haerynck, Filomeen, Casanova, Jean-Laurent, Puel, Anne
Publicado 2020

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

por Béziat, 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., De Bruyne, Marieke, Schmitz-Abe, Klaus, Charbonnier, Louis-Marie, Keles, Sevgi, Nammour, Justine, Vladikine, Natasha, Maglorius Renkilaraj, Majistor Raj Luxman, Seeleuthner, Yoann, Migaud, Mélanie, Rosain, Jérémie, Jeljeli, Mohamed, Boisson, Bertrand, Van Braeckel, Eva, Rosenfeld, Jill A., Dai, Hongzheng, Burrage, Lindsay C., Murdock, David R., Lambrecht, Bart N., Avettand-Fenoel, Véronique, Vogel, Tiphanie P., Esther, Charles R., Haskologlu, Sule, Dogu, Figen, Ciznar, Peter, Boutboul, David, Ouachée-Chardin, Marie, Amourette, Jean, Lebras, Marie-Noëlle, Gauvain, Clément, Tcherakian, Colas, Ikinciogullari, Aydan, Beyaert, Rudi, Abel, Laurent, Milner, Joshua D., Grimbacher, Bodo, Couderc, Louis-Jean, Butte, Manish J., Freeman, Alexandra F., Catherinot, Émilie, Fieschi, Claire, Chatila, Talal A., Tangye, Stuart G., Uhlig, Holm H., Haerynck, Filomeen, Casanova, Jean-Laurent, Puel, Anne
Publicado 2020