Publications
2026
A novel STK4 mutation in two siblings with CD4 lymphopenia, recurrent infections and warts: a case report and review of the literature
Hanye Sohrabi,
Mohammad Ghavam,
Hossein Esmaeilzadeh,
Niloufar Yazdanpanah,
Samaneh Zoghi,
Elham Rayzan,
Raul Jimenez-Heredia,
Anna Segarra-Roca,
Kaan Boztug,
Nima Rezaei.
J Med Case Rep. 2026 Aug 3;20(1):670. doi: 10.1186/s13256-026-06435-8.
2026
Genotype-phenotype analysis in 333 individuals with heterozygous variants in NFKB1
Sophia Marie Armbruster,
Andres Caballero-Oteyza,
Oliver Bartsch,
Tiziana Lorenzini,
Hassan Abolhassani,
Samantha Chan,
Luis Ignacio González Granado,
Victor Garcia-Bustos,
Marta Dafne Cabañero Navalon,
Nazanin Fathi,
Nima Rezaei,
Mathieu Fusaro,
Roger Colobran,
Kaan Boztug,
Michele Proietti,
Bodo Grimbacher.
J Hum Immun. 2027 Jan 4;3(1):e20260076. doi: 10.70962/jhi.20260076. Epub 2026 Oct 19.
2026
Host control of persistent Epstein-Barr virus infection
Axel Schmidt,
T Madhusankha Alawathurage,
Friederike S David,
Yosuke Ogawa,
Leonard Frach,
Sylvia Richter,
Merle Schaefer,
Carina M Mathey,
Sabrina K Henne,
Japan COVID-19 Task Force,
Andreas J Forstner,
Alexander T Dilthey,
Anne-Katrin Pröbstel,
Kaan Boztug,
Markus M Nöthen,
Ho Namkoong,
Yukinori Okada,
Eva C Beins,
Kerstin U Ludwig.
Nature. 2026 May;653(8114):444-454. doi: 10.1038/s41586-026-10274-4. Epub 2026 Feb 19.
2025
Long-term outcome of bone marrow transplantation in NIK deficiency: non-redundant role of non-canonical NF-κB signaling in thymic reconstitution and secondary lymphoid organ development
Sevgi Köstel Bal,
Şule Haskoloğlu,
Bernhard Ransmayr,
Selin Sevinç,
Candan İslamoğlu,
Kübra Baskın,
Nazlı Deveci,
Berna Savaş,
Suat Fitoz,
Alphan Küpesiz,
Tanıl Kendirli,
Kaan Boztug,
Figen Doğu,
Kamile Aydan İkincioğulları.
Front Immunol. 2025 Nov 7;16:1682642. doi: 10.3389/fimmu.2025.1682642. eCollection 2025.
2025
Protein palmitoylation and sphingolipid metabolism control regulated exocytosis in cytotoxic lymphocytes
Artem Kalinichenko,
Jakob Huemer,
Theresa Humer,
Matthias Haimel,
Michael Svaton,
Nicolas Socquet-Juglard,
Giovanna Perinetti Casoni,
Celine Prakash,
Maximilian von der Linde,
Julia Pazmandi,
Cheryl van de Wetering,
Javier Nunez-Fontarnau,
Anton Kamnev,
Sarah Giuliani,
Martin G Jaeger,
Elisa Hahn,
Sarah Dobner,
Andrea Rukavina,
Elise Sylvander,
Jacqueline Seigner,
Christina Rashkova,
Birgit Hoeger,
Michael W Traxlmayr,
Manfred Lehner,
Yenan T Bryceson,
Janna Saarela,
Thomas Hannich,
Irinka Castanon,
Georg Winter,
Loïc Dupré,
Kaan Boztug.
Sci Immunol. 2025 Oct 17;10(112):eado3825. doi: 10.1126/sciimmunol.ado3825. Epub 2025 Oct 17.
2025
Immune-related actinopathies at the cross-road of immunodeficiency, autoimmunity and autoinflammation
Loïc Dupré,
Irinka Castanon,
Kaan Boztug.
Nat Rev Immunol. 2026 Feb;26(2):89-111. doi: 10.1038/s41577-025-01214-w. Epub 2025 Sep 10.
2025
Image-based drug screening combined with molecular profiling identifies signatures and drivers of therapy resistance in pediatric AML
Ben Haladik,
Margarita Maurer-Granofszky,
Peter Zoescher,
Raul Jimenez-Heredia,
Alexandra Frohne,
Anna Segarra-Roca,
Chloe Casey,
Felix Kartnig,
Sarah Giuliani,
Christina Rashkova,
Peter Repiscak,
Michael N Dworzak,
Giulio Superti-Furga,
Kaan Boztug.
Cell Rep Med. 2025 Sep 16;6(9):102304. doi: 10.1016/j.xcrm.2025.102304. Epub 2025 Aug 20.
2025
The NUDIX hydrolase NUDT5 influences purine nucleotide metabolism and thiopurine pharmacology
Leo Kager,
Kaan Boztug.
J Clin Invest. 2025 Jul 15;135(14):e194434. doi: 10.1172/JCI194434. eCollection 2025 Jul 15.
2025
Transcriptional and epigenetic rewiring by the NUP98::KDM5A fusion oncoprotein directly activates CDK12
Selina Troester,
Thomas Eder,
Nadja Wukowits,
Martin Piontek,
Pablo Fernández-Pernas,
Johannes Schmoellerl,
Ben Haladik,
Gabriele Manhart,
Melanie Allram,
Margarita Maurer-Granofszky,
Nastassja Scheidegger,
Karin Nebral,
Giulio Superti-Furga,
Roland Meisel,
Beat Bornhauser,
Peter Valent,
Michael N Dworzak,
Johannes Zuber,
Kaan Boztug,
Florian Grebien.
Nat Commun. 2025 May 19;16(1):4656. doi: 10.1038/s41467-025-59930-9.
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 Sep;13(9):2449-2459.e7. doi: 10.1016/j.jaip.2025.03.026. Epub 2025 Mar 26.
