S
Sara Sebnem Kilic
Researcher at Uludağ University
Publications - 117
Citations - 5579
Sara Sebnem Kilic is an academic researcher from Uludağ University. The author has contributed to research in topics: Immunodeficiency & Common variable immunodeficiency. The author has an hindex of 33, co-authored 107 publications receiving 4663 citations. Previous affiliations of Sara Sebnem Kilic include Hacettepe University.
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Journal ArticleDOI
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
Luyan Liu,Satoshi Okada,Xiao-Fei Kong,Alexandra Y. Kreins,Sophie Cypowyj,Avinash Abhyankar,Julie Toubiana,Yuval Itan,Magali Audry,Patrick Nitschke,Cécile Masson,Beáta Tóth,Jérome Flatot,Mélanie Migaud,Maya Chrabieh,Tatiana Kochetkov,Alexandre Bolze,Alexandre Bolze,Alessandro Borghesi,Antoine Toulon,J. Hiller,Stefanie Eyerich,Kilian Eyerich,Vera Gulácsy,Ludmyla Chernyshova,Viktor P. Chernyshov,Anastasia Bondarenko,Rosa María Cortés Grimaldo,Lizbeth Blancas-Galicia,Ileana Maria Madrigal Beas,Joachim Roesler,Klaus Magdorf,Dan Engelhard,Caroline Thumerelle,Pierre-Régis Burgel,Miriam Hoernes,Barbara Drexel,Reinhard Seger,Theresia Kusuma,Annette Jansson,Julie Sawalle-Belohradsky,Bernd H. Belohradsky,Emmanuelle Jouanguy,Emmanuelle Jouanguy,Jacinta Bustamante,Mélanie Bué,Nathan Karin,Gizi Wildbaum,Christine Bodemer,Olivier Lortholary,Alain Fischer,Stéphane Blanche,Saleh Al-Muhsen,Janine Reichenbach,Masao Kobayashi,Francisco Espinosa Rosales,Carlos Torres Lozano,Sara Sebnem Kilic,Matías Oleastro,Amos Etzioni,Claudia Traidl-Hoffmann,Ellen D. Renner,Laurent Abel,Laurent Abel,Capucine Picard,Capucine Picard,László Maródi,Stéphanie Boisson-Dupuis,Stéphanie Boisson-Dupuis,Anne Puel,Jean-Laurent Casanova +70 more
TL;DR: Whole-exome sequencing reveals activating STAT1 mutations in some patients with autosomal dominant chronic mucocutaneous candidiasis disease.
Journal ArticleDOI
Functional STAT3 deficiency compromises the generation of human T follicular helper cells
Cindy S. Ma,Cindy S. Ma,Danielle T. Avery,Anna Chan,Marcel Batten,Marcel Batten,Jacinta Bustamante,Jacinta Bustamante,Stéphanie Boisson-Dupuis,Stéphanie Boisson-Dupuis,Peter D. Arkwright,Alexandra Y. Kreins,Diana Averbuch,Dan Engelhard,Klaus Magdorf,Sara Sebnem Kilic,Yoshiyuki Minegishi,Shigeaki Nonoyama,Martyn A. French,Martyn A. French,Sharon Choo,Joanne Smart,Jane Peake,Melanie Wong,Paul Gray,Matthew C. Cook,Matthew C. Cook,David A. Fulcher,Jean-Laurent Casanova,Jean-Laurent Casanova,Elissa K. Deenick,Elissa K. Deenick,Stuart G. Tangye,Stuart G. Tangye +33 more
TL;DR: CD4(+) T cells from patients deficient in IL-12Rβ1, TYK2, STAT1, and STAT3 are examined to further explore the pathways involved in human Tfh cell differentiation and suggest that defective T fh cell development and/or function contributes to the humoral defects observed in STAT3-deficient patients.
Journal ArticleDOI
Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations
Matteo M Guerrini,Cristina Sobacchi,Barbara Cassani,Mario Abinun,Sara Sebnem Kilic,Alessandra Pangrazio,Daniele Moratto,Evelina Mazzolari,Jill Clayton-Smith,Paul J. Orchard,Fraser P. Coxon,Miep H. Helfrich,Julie C. Crockett,David Mellis,Ashok Vellodi,Ilhan Tezcan,Luigi D. Notarangelo,Luigi D. Notarangelo,Michael J. Rogers,Paolo Vezzoni,Anna Villa,Annalisa Frattini +21 more
TL;DR: The results indicate that TNFRSF11A mutations can cause a clinical condition in which severe ARO is associated with an immunoglobulin-production defect, and a large series of ARO patients selected were selected.
Journal ArticleDOI
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
Alexandra Y. Kreins,Alexandra Y. Kreins,Michael J. Ciancanelli,Satoshi Okada,Xiao-Fei Kong,Noé Ramírez-Alejo,Sara Sebnem Kilic,Jamila El Baghdadi,Shigeaki Nonoyama,Seyed Alireza Mahdaviani,Fatima Ailal,Aziz Bousfiha,Davood Mansouri,Elma Nievas,Cindy S. Ma,Cindy S. Ma,Geetha Rao,Andrea Bernasconi,Hye Sun Kuehn,Julie E. Niemela,Jennifer Stoddard,Paul Deveau,Paul Deveau,Aurélie Cobat,Aurélie Cobat,Safa El Azbaoui,Ayoub Sabri,Che Kang Lim,Che Kang Lim,Mikael Sundin,Danielle T. Avery,Rabih Halwani,Audrey V. Grant,Audrey V. Grant,Bertrand Boisson,Dusan Bogunovic,Yuval Itan,Marcela Moncada-Vélez,Marcela Moncada-Vélez,Rubén Martínez-Barricarte,Mélanie Migaud,Mélanie Migaud,Caroline Deswarte,Caroline Deswarte,Laia Alsina,Laia Alsina,Daniel Kotlarz,Christoph Klein,Ingrid Müller-Fleckenstein,Bernhard Fleckenstein,Valérie Cormier-Daire,Stefan Rose-John,Capucine Picard,Lennart Hammarström,Anne Puel,Anne Puel,Saleh Al-Muhsen,Laurent Abel,Laurent Abel,Laurent Abel,Damien Chaussabel,Sergio D. Rosenzweig,Yoshiyuki Minegishi,Stuart G. Tangye,Stuart G. Tangye,Jacinta Bustamante,Jacinta Bustamante,Jean-Laurent Casanova,Stéphanie Boisson-Dupuis,Stéphanie Boisson-Dupuis,Stéphanie Boisson-Dupuis +70 more
TL;DR: The identification and immunological characterization of a group of TYK2-deficient patients is reported and they are described as having at least some of the hallmarks of central giant cell apoptosis.
Journal ArticleDOI
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
Cristina Woellner,E. Michael Gertz,Alejandro A. Schäffer,M. Lagos,Mario Perro,Erik-Oliver Glocker,Maria Cristina Pietrogrande,Fausto Cossu,José Luis Franco,Núria Matamoros,Barbara Pietrucha,Edyta Heropolitańska-Pliszka,Mehdi Yeganeh,Mostafa Moin,Teresa Espanol,Stephan Ehl,Andrew R. Gennery,Mario Abinun,Anna Bręborowicz,Tim Niehues,Sara Sebnem Kilic,Anne K. Junker,Stuart E. Turvey,Alessandro Plebani,Berta Sánchez,Ben Zion Garty,Claudio Pignata,Caterina Cancrini,Jiri Litzman,Ozden Sanal,Ulrich Baumann,Rosa Bacchetta,Amy P. Hsu,Joie Davis,Lennart Hammarström,E. Graham Davies,Efrem Eren,Peter D. Arkwright,Jukka S. Moilanen,Dorothee Viemann,Sujoy Khan,László Maródi,Andrew J. Cant,Alexandra F. Freeman,Jennifer M. Puck,Steven M. Holland,Bodo Grimbacher +46 more
TL;DR: Diagnostic guidelines for STAT3-deficient HIES are proposed based on a machine-learning approach to identify which features best predict a STAT3 mutation.