Publications
2025
Clinical and Immunological Prognostic Factors With Novel Variants in a Large Cohort of Diacylglycerol Acyltransferase 1 Deficiency
Melek Yorgun Altunbas,
Hubert Kogler,
Hassan Abolhassani,
Erkan Akkus,
Ahmet Basturk,
Emre Akkelle,
Ersin Sayar,
Esra Polat,
Altan Kara,
Salim Can,
Alexandra Frohne,
Anna Segarra-Roca,
Raul Jimenez-Heredia,
Royala Babayeva,
Asena Pınar Sefer,
Ayca Kiykim,
Sevgi Bilgic Eltan,
Elif Karakoc-Aydiner,
Ahmet Ozen,
Omer Faruk Beser,
Kaan Boztug,
Nima Rezaei,
Safa Baris.
J Allergy Clin Immunol Pract. 2025 Mar 26:S2213-2198(25)00277-6. doi: 10.1016/j.jaip.2025.03.026. Online ahead of print.
2025
Evaluation of Patients with Combined Immunodeficiency: A Single Center Experience
Hatice Firatoglu,
Caner Aytekin,
Figen Dogu,
Sevgi Kostel Bal,
Sule Haskologlu,
Kaan Boztug,
Aydan Ikinciogullari.
Iran J Immunol. 2025 Mar 30;22(1):89-99. doi: 10.22034/iji.2025.103499.2844.
2025
Ex vivo T-lymphopoiesis assays assisting corrective treatment choice for genetically undefined T-lymphocytopenia
Zainab M Golwala,
Helena Spiridou Goncalves,
Ranjita Devi Moirangthem,
Grace Evans,
Sabrina Lizot,
Coco de Koning,
Alexandrine Garrigue,
Marta Martin Corredera,
Juan Moises Ocampo-Godinez,
Evey Howley,
Susanne Kricke,
Arnold Awuah,
Irene Obiri-Yeboa,
Rajeev Rai,
Neil Sebire,
Fanette Bernard,
Victoria Bordon Cueto De Braem,
Kaan Boztug,
Theresa Cole,
Andrew R Gennery,
Scott Hackett,
Sophie Hambleton,
Mette Holm,
Maaike A Kusters,
Adam Klocperk,
Antonio Marzollo,
Nufar Marcus,
Zohreh Nademi,
Jana Pachlopnik Schmid,
Herbert Pichler,
Anna Sellmer,
Pere Soler-Palacin,
Maarja Soomann,
Paul Torpiano,
Joris van Montfrans,
Stefan Nierkens,
Stuart Adams,
Matthew Buckland,
Kimberly Gilmour,
Austen Worth,
Adrian J Thrasher,
E Graham Davies,
Isabelle André,
Alexandra Y Kreins.
Clin Immunol. 2025 May;274:110453. doi: 10.1016/j.clim.2025.110453. Epub 2025 Feb 16.
2024
Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4+ IL-9-expressing cells
Geetha Rao,
Corinne D Mack,
Tina Nguyen,
Natalie Wong,
Kathryn Payne,
Lisa Worley,
Paul E Gray,
Melanie Wong,
Peter Hsu,
Michael O Stormon,
Kahn Preece,
Daniel Suan,
Michael O'Sullivan,
Annaliesse K Blincoe,
Jan Sinclair,
Satoshi Okada,
Sophie Hambleton,
Peter D Arkwright,
Kaan Boztug,
Polina Stepensky,
Megan A Cooper,
Liliana Bezrodnik,
Kari C Nadeau,
Hassan Abolhassani,
Roshini S Abraham,
Mikko R J Seppänen,
Vivien Béziat,
Jacinta Bustamante,
Lisa R Forbes Satter,
Jennifer W Leiding,
Isabelle Meyts,
Emmanuelle Jouanguy,
Stéphanie Boisson-Dupuis,
Gulbu Uzel,
Anne Puel,
Jean-Laurent Casanova,
Stuart G Tangye,
Cindy S Ma.
J Allergy Clin Immunol. 2025 Apr;155(4):1161-1178. doi: 10.1016/j.jaci.2024.11.031. Epub 2024 Nov 30.
2024
Inherited human RelB deficiency impairs innate and adaptive immunity to infection
Tom Le Voyer,
Majistor Raj Luxman Maglorius Renkilaraj,
Kunihiko Moriya,
Malena Pérez Lorenzo,
Tina Nguyen,
Liwei Gao,
Tamar Rubin,
Axel Cederholm,
Masato Ogishi,
Carlos A Arango-Franco,
Vivien Béziat,
Romain Lévy,
Mélanie Migaud,
Franck Rapaport,
Yuval Itan,
Elissa K Deenick,
Irene Cortese,
Andrea Lisco,
Kaan Boztug,
Laurent Abel,
Stéphanie Boisson-Dupuis,
Bertrand Boisson,
Patrick Frosk,
Cindy S Ma,
Nils Landegren,
Fatih Celmeli,
Jean-Laurent Casanova,
Stuart G Tangye,
Anne Puel.
Proc Natl Acad Sci U S A. 2024 Sep 10;121(37):e2321794121. doi: 10.1073/pnas.2321794121. Epub 2024 Sep 4.
2024
The gray area of RQ-PCR-based measurable residual disease: subdividing the "positive, below quantitative range" category
Michaela Kotrova,
Eva Fronkova,
Michael Svaton,
Daniela Drandi,
Felix Schön,
Patricia Hoogeveen,
Jeremy Hancock,
Aneta Skotnicova,
Anke Schilhabel,
Cornelia Eckert,
Emmanuelle Clappier,
Gianni Cazzaniga,
Beat W Schäfer,
Jacques J M van Dongen,
Matthias Ritgen,
Christiane Pott,
Vincent H J van der Velden,
Jan Trka,
Monika Brüggemann.
Leukemia. 2024 Jul;38(7):1617-1620. doi: 10.1038/s41375-024-02265-z. Epub 2024 May 17.
2024
Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion
Ceyda Tuna Kırsaçlıoğlu,
Alexandra Frohne,
Zarife Kuloğlu,
Isidora Kristofersdottir,
Engin Demir,
Cansu Altuntaş,
Zehra Şule Haskoloğlu,
Fatma Nazan Çobanoğlu,
Tanıl Kendirli,
Halil Özdemir,
Zeynep Birsin Özçakar,
Berna Savaş,
Figen Doğu,
Aydan İkincioğulları,
Kaan Boztug,
Aydan Kansu.
J Clin Immunol. 2024 Apr 27;44(5):108. doi: 10.1007/s10875-024-01707-8.
2024
Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion
Ibrahim Serhat Karakus,
Mehmet Cihangir Catak,
Alexandra Frohne,
Feyza Bayram Catak,
Melek Yorgun Altunbas,
Royala Babayeva,
Sevgi Kostel Bal,
Sevgi Bilgic Eltan,
Ezgi Yalcin Gungoren,
Fehim Esen,
Itir Ebru Zemheri,
Elif Karakoc-Aydiner,
Ahmet Ozen,
Suar Caki-Kilic,
Michael J Kraakman,
Kaan Boztug,
Safa Baris.
J Clin Immunol. 2024 Apr 5;44(4):94. doi: 10.1007/s10875-024-01682-0.
2024
A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes
Leo Kager,
Raúl Jimenez-Heredia,
Petra Zeitlhofer,
Wolfgang Novak,
Sebastian K Eder,
Anna Segarra-Roca,
Alexandra Frohne,
Karin Nebral,
Matthias Haimel,
René Geyeregger,
Katharina Roetzer-Londgin,
Oskar A Haas,
Kaan Boztug.
Hemasphere. 2024 Jan 26;8(1):e31. doi: 10.1002/hem3.31. eCollection 2024 Jan.
2024
A Novel Homozygous Six Base Pair Deletion Found in the NFATC2 Gene in a Patient with EBV-Associated Lymphoproliferation
Baran Erman,
Sevgi Köstel Bal,
Çiğdem Aydoğmuş,
Gizem Zengin Ersoy,
Kaan Boztug.
J Clin Immunol. 2024 Mar 1;44(3):74. doi: 10.1007/s10875-024-01675-z.
