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13 results on '"Köstel Bal, Sevgi"'

1. Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis

Author

Kostel Bal, Sevgi, Giuliani, Sarah, Block, Jana, Repiscak, Peter, Hafemeister, Christoph, Shahin, Tala, Kasap, Nurhan, Ransmayr, Bernhard, Miao, Yirun, van de Wetering, Cheryl, Frohne, Alexandra, Jimenez Heredia, Raul, Schuster, Michael, Zoghi, Samaneh, Hertlein, Vanessa, Thian, Marini, Bykov, Aleksandr, Babayeva, Royala, Bilgic Eltan, Sevgi, Karakoc-Aydiner, Elif, Shaw, Lisa E., Chowdhury, Iftekhar, Varjosalo, Markku, Argüello, Rafael J., Farlik, Matthias, Ozen, Ahmet, Serfling, Edgar, Dupré, Loïc, Bock, Christoph, Halbritter, Florian, Hannich, J. Thomas, Castanon, Irinka, Kraakman, Michael J., Baris, Safa, and Boztug, Kaan

Published
2023
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3. Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

Author

MS Infectieziekten, Infection & Immunity, Immuno/reuma patientenzorg, Child Health, Ghosh, Sujal, Köstel Bal, Sevgi, Edwards, Emily S J, Pillay, Bethany, Jimenez-Heredia, Raúl, Rao, Geetha, Erol Cipe, Funda, Salzer, Elisabeth, Zoghi, Samaneh, Abolhassani, Hassan, Momen, Tooba, Gostick, Emma, Price, David A, Zhang, Yu, Oler, Andrew J, Gonzaga-Jauregui, Claudia, Erman, Baran, Metin, Ayse, Ilhan, Inci, Haskologlu, Sule, Islamoglu, Candan, Baskin, Kubra, Ceylaner, Serdar, Yilmaz, Ebru, Unal, Ekrem, Karakukcu, Musa, Berghuis, Dagmar, Cole, Theresa, Gupta, Aditya Kumar, Hauck, Fabian, Hoepelman, Andy, Baris, Safa, Karakoc-Aydiner, Elif, Ozen, Ahmet, Kager, Leo, Holzinger, Dirk, Paulussen, Michael, Krüger, Renate, Meisel, Roland, Oommen, Prasad Thomas, Morris, Emma C, Neven, Benedicte, Worth, Austen J J, van Montfrans, Joris M, Fraaij, Pieter, Choo, Sharon, Dogu, Figen, Davies, E Graham, Burns, Siobhan, Dueckers, Gregor, Perez Becker, Ruy, von Bernuth, Horst, Latour, Sylvain, Faraci, Maura, Gattorno, Marco, Su, Helen, Pan-Hammarström, Qiang, Hammarström, Lennart, Lenardo, Michael J, Ma, Cindy S, Niehues, Tim, Aghamohammadi, Asghar, Rezaei, Nima, Ikinciogullari, Aydan, Tangye, Stuart G, Lankester, Arjan C, Boztug, Kaan, MS Infectieziekten, Infection & Immunity, Immuno/reuma patientenzorg, Child Health, Ghosh, Sujal, Köstel Bal, Sevgi, Edwards, Emily S J, Pillay, Bethany, Jimenez-Heredia, Raúl, Rao, Geetha, Erol Cipe, Funda, Salzer, Elisabeth, Zoghi, Samaneh, Abolhassani, Hassan, Momen, Tooba, Gostick, Emma, Price, David A, Zhang, Yu, Oler, Andrew J, Gonzaga-Jauregui, Claudia, Erman, Baran, Metin, Ayse, Ilhan, Inci, Haskologlu, Sule, Islamoglu, Candan, Baskin, Kubra, Ceylaner, Serdar, Yilmaz, Ebru, Unal, Ekrem, Karakukcu, Musa, Berghuis, Dagmar, Cole, Theresa, Gupta, Aditya Kumar, Hauck, Fabian, Hoepelman, Andy, Baris, Safa, Karakoc-Aydiner, Elif, Ozen, Ahmet, Kager, Leo, Holzinger, Dirk, Paulussen, Michael, Krüger, Renate, Meisel, Roland, Oommen, Prasad Thomas, Morris, Emma C, Neven, Benedicte, Worth, Austen J J, van Montfrans, Joris M, Fraaij, Pieter, Choo, Sharon, Dogu, Figen, Davies, E Graham, Burns, Siobhan, Dueckers, Gregor, Perez Becker, Ruy, von Bernuth, Horst, Latour, Sylvain, Faraci, Maura, Gattorno, Marco, Su, Helen, Pan-Hammarström, Qiang, Hammarström, Lennart, Lenardo, Michael J, Ma, Cindy S, Niehues, Tim, Aghamohammadi, Asghar, Rezaei, Nima, Ikinciogullari, Aydan, Tangye, Stuart G, Lankester, Arjan C, and Boztug, Kaan

Published
2020

4. Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

Author

Ghosh, Sujal, primary, Köstel Bal, Sevgi, additional, Edwards, Emily S. J., additional, Pillay, Bethany, additional, Jiménez Heredia, Raúl, additional, Erol Cipe, Funda, additional, Rao, Geetha, additional, Salzer, Elisabeth, additional, Zoghi, Samaneh, additional, Abolhassani, Hassan, additional, Momen, Tooba, additional, Gostick, Emma, additional, Price, David A., additional, Zhang, Yu, additional, Oler, Andrew J., additional, Gonzaga-Jauregui, Claudia, additional, Erman, Baran, additional, Metin, Ayse, additional, Ilhan, Inci, additional, Haskologlu, Sule, additional, Islamoglu, Candan, additional, Baskin, Kubra, additional, Ceylaner, Serdar, additional, Yilmaz, Ebru, additional, Unal, Ekrem, additional, Karakukcu, Musa, additional, Berghuis, Dagmar, additional, Cole, Theresa, additional, Gupta, Aditya K., additional, Hauck, Fabian, additional, Kogler, Hubert, additional, Hoepelman, Andy I. M., additional, Baris, Safa, additional, Karakoc-Aydiner, Elif, additional, Ozen, Ahmet, additional, Kager, Leo, additional, Holzinger, Dirk, additional, Paulussen, Michael, additional, Krüger, Renate, additional, Meisel, Roland, additional, Oommen, Prasad T., additional, Morris, Emma, additional, Neven, Benedicte, additional, Worth, Austen, additional, van Montfrans, Joris, additional, Fraaij, Pieter L. A., additional, Choo, Sharon, additional, Dogu, Figen, additional, Davies, E. Graham, additional, Burns, Siobhan, additional, Dückers, Gregor, additional, Becker, Ruy Perez, additional, von Bernuth, Horst, additional, Latour, Sylvain, additional, Faraci, Maura, additional, Gattorno, Marco, additional, Su, Helen C., additional, Pan-Hammarström, Qiang, additional, Hammarström, Lennart, additional, Lenardo, Michael J., additional, Ma, Cindy S., additional, Niehues, Tim, additional, Aghamohammadi, Asghar, additional, Rezaei, Nima, additional, Ikinciogullari, Aydan, additional, Tangye, Stuart G., additional, Lankester, Arjan C., additional, and Boztug, Kaan, additional

Published
2020
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6. Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

Author

Tesch, Victoria Katharina, primary, Abolhassani, Hassan, additional, Shadur, Bella, additional, Zobel, Joachim, additional, Mareika, Yuliya, additional, Sharapova, Svetlana, additional, Karakoc-Aydiner, Elif, additional, Rivière, Jacques G., additional, Garcia-Prat, Marina, additional, Moes, Nicolette, additional, Haerynck, Filomeen, additional, Gonzales-Granado, Luis I., additional, Santos Pérez, Juan Luis, additional, Mukhina, Anna, additional, Shcherbina, Anna, additional, Aghamohammadi, Asghar, additional, Hammarström, Lennart, additional, Dogu, Figen, additional, Haskologlu, Sule, additional, İkincioğulları, Aydan İ., additional, Köstel Bal, Sevgi, additional, Baris, Safa, additional, Kilic, Sara Sebnem, additional, Karaca, Neslihan Edeer, additional, Kutukculer, Necil, additional, Girschick, Hermann, additional, Kolios, Antonios, additional, Keles, Sevgi, additional, Uygun, Vedat, additional, Stepensky, Polina, additional, Worth, Austen, additional, van Montfrans, Joris M., additional, Peters, Anke M.J., additional, Meyts, Isabelle, additional, Adeli, Mehdi, additional, Marzollo, Antonio, additional, Padem, Nurcicek, additional, Khojah, Amer M., additional, Chavoshzadeh, Zahra, additional, Avbelj Stefanija, Magdalena, additional, Bakhtiar, Shahrzad, additional, Florkin, Benoit, additional, Meeths, Marie, additional, Gamez, Laura, additional, Grimbacher, Bodo, additional, Seppänen, Mikko R.J., additional, Lankester, Arjan, additional, Gennery, Andrew R., additional, and Seidel, Markus G., additional

Published
2020
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9. Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

Author

Spencer, Sarah, primary, Köstel Bal, Sevgi, additional, Egner, William, additional, Lango Allen, Hana, additional, Raza, Syed I., additional, Ma, Chi A., additional, Gürel, Meltem, additional, Zhang, Yuan, additional, Sun, Guangping, additional, Sabroe, Ruth A., additional, Greene, Daniel, additional, Rae, William, additional, Shahin, Tala, additional, Kania, Katarzyna, additional, Ardy, Rico Chandra, additional, Thian, Marini, additional, Staples, Emily, additional, Pecchia-Bekkum, Annika, additional, Worrall, William P.M., additional, Stephens, Jonathan, additional, Brown, Matthew, additional, Tuna, Salih, additional, York, Melanie, additional, Shackley, Fiona, additional, Kerrin, Diarmuid, additional, Sargur, Ravishankar, additional, Condliffe, Alison, additional, Tipu, Hamid Nawaz, additional, Kuehn, Hye Sun, additional, Rosenzweig, Sergio D., additional, Turro, Ernest, additional, Tavaré, Simon, additional, Thrasher, Adrian J., additional, Jodrell, Duncan Ian, additional, Smith, Kenneth G.C., additional, Boztug, Kaan, additional, Milner, Joshua D., additional, and Thaventhiran, James E.D., additional

Published
2019
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10. Lökosit Adezyon Defekti (Tip-I ve Tip-III) Tanısıyla İzlenen 14 Hastanın Klinik, İmmünolojik Özellikleri ve Tedavi Sonuçlarının Değerlendirilmesi.

Author

HASKOLOĞLU, Zehra Şule, KÖSTEL BAL, Sevgi, İSLAMOĞLU, Candan, BASKIN, Avniye Kübra, BEŞLİ, Dilara, AYTEKİN, Caner, DOĞU, Figen, and İKİNCİOĞULLARI, Aydan

Abstract

Objective: Leukocyte Adhesion Deficiency (LAD) is a rare autosomal recessive primary immunodeficiency that is due to deficiencies of molecules involved in adhesion, migration, chemotaxis and extravasation of leukocytes with three different types (LAD-I, LAD-II, LAD-III). It is characterised by recurrent bacterial, fungal infections and leucocytosis. In this study, it is aimed to evaluate clinical, immunological features, treatment and follow-up of patients diagnosed with LAD-I and III. Material and Methods: In this study there were 14 LAD patients who were diagnosed, treated and followed up in our department between March 2008- June 2018. The demographic, clinical, laboratory features, genetic mutations, follow-up and hematopoietic stem cell transplantation (HSCT) results of patients were evaluated retrospectively. Results: There were 12 (86%) patients with LAD-I, and 2 (14%) with LAD-III. All patients (9 female/5 male) had consanguinity, 3 patients had history of sibling death with similar complaints. The most common clinical findings were 13 (93%) delayed umbilical cord separation, 12 (86%) omphalitis, 9 (64%) necrotizing skin wounds, 5 (36%) pneumonia, 4 (29%) gingivitis and 4 (29%) moniliasis. All patients had neutrophilia and leucocytosis. Ten patients were defined as severe, whereas 2 patients have mild to moderate LAD-I. Mutations were demonstrated in 8 patients by genetic analysis. A novel mutation in the ITGB2 gene was detected in 3 siblings. Patients who were not transplanted received multiple outpatient/inpatient treatments due to skin and respiratory infections. S.aureus and E.faecium were the most common infectious agents. HSCT was performed in 6 patients from full matched related donors and in 1 patient from full matched unrelated donor. Engraftment was achieved in all patients without serious complications. One patient with LAD-III died due to bleeding before transplantation. While the survival rate was 93% in all, it was 100% in patients who were treated by HSCT. Conclusion: LAD syndromes diagnosis must be considered in patients with delayed umbilical cord separation, recurrent skin and mucosal infections and leucocytosis. HSCT is a curative treatment for these patients. [ABSTRACT FROM AUTHOR]

Published
2020
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12. AutoCore: A network-based definition of the core module of human autoimmunity and autoinflammation.

Author

Guthrie J, Köstel Bal S, Lombardo SD, Müller F, Sin C, Hütter CVR, Menche J, and Boztug K

Subjects
Humans, Autoimmunity, Homeostasis, Autoimmune Diseases, Hereditary Autoinflammatory Diseases
Abstract

Although research on rare autoimmune and autoinflammatory diseases has enabled definition of nonredundant regulators of homeostasis in human immunity, because of the single gene-single disease nature of many of these diseases, contributing factors were mostly unveiled in sequential and noncoordinated individual studies. We used a network-based approach for integrating a set of 186 inborn errors of immunity with predominant autoimmunity/autoinflammation into a comprehensive map of human immune dysregulation, which we termed "AutoCore." The AutoCore is located centrally within the interactome of all protein-protein interactions, connecting and pinpointing multidisease markers for a range of common, polygenic autoimmune/autoinflammatory diseases. The AutoCore can be subdivided into 19 endotypes that correspond to molecularly and phenotypically cohesive disease subgroups, providing a molecular mechanism-based disease classification and rationale toward systematic targeting for therapeutic purposes. Our study provides a proof of concept for using network-based methods to systematically investigate the molecular relationships between individual rare diseases and address a range of conceptual, diagnostic, and therapeutic challenges.

Published
2023
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