Publications
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.
2024
Coordinated ARP2/3 and glycolytic activities regulate the morphological and functional fitness of human CD8+ T cells
Anton Kamnev,
Tanvi Mehta,
Matthias Wielscher,
Beatriz Chaves,
Claire Lacouture,
Anna-Katharina Mautner,
Lisa E Shaw,
Michael Caldera,
Jörg Menche,
Wolfgang P Weninger,
Matthias Farlik,
Kaan Boztug,
Loïc Dupré.
Cell Rep. 2024 Mar 26;43(3):113853. doi: 10.1016/j.celrep.2024.113853. Epub 2024 Feb 28.
2024
Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway
Ann Y Park,
Michael Leney-Greene,
Matthew Lynberg,
Justin Q Gabrielski,
Xijin Xu,
Benjamin Schwarz,
Lixin Zheng,
Arasu Balasubramaniyam,
Hyoungjun Ham,
Brittany Chao,
Yu Zhang,
Helen F Matthews,
Jing Cui,
Yikun Yao,
Satoshi Kubo,
Jean Michel Chanchu,
Aaron R Morawski,
Sarah A Cook,
Ping Jiang,
Juan C Ravell,
Yan H Cheng,
Alex George,
Aiman Faruqi,
Alison M Pagalilauan,
Jenna R E Bergerson,
Sundar Ganesan,
Samuel D Chauvin,
Jahnavi Aluri,
Joy Edwards-Hicks,
Eric Bohrnsen,
Caroline Tippett,
Habib Omar,
Leilei Xu,
Geoffrey W Butcher,
John Pascall,
Elif Karakoc-Aydiner,
Ayca Kiykim,
Holden Maecker,
İlhan Tezcan,
Saliha Esenboga,
Raul Jimenez Heredia,
Deniz Akata,
Saban Tekin,
Altan Kara,
Zarife Kuloglu,
Emel Unal,
Tanıl Kendirli,
Figen Dogu,
Esra Karabiber,
T Prescott Atkinson,
Claude Cochet,
Odile Filhol,
Catherine M Bosio,
Mark M Davis,
Richard P Lifton,
Erika L Pearce,
Oliver Daumke,
Caner Aytekin,
Gülseren Evirgen Şahin,
Aysel Ünlüsoy Aksu,
Gulbu Uzel,
V Koneti Rao,
Sinan Sari,
Buket Dalgıç,
Kaan Boztug,
Deniz Cagdas,
Sule Haskologlu,
Aydan Ikinciogullari,
David Schwefel,
Silvia Vilarinho,
Safa Baris,
Ahmet Ozen,
Helen C Su,
Michael J Lenardo.
Nat Immunol. 2024 Apr;25(4):717. doi: 10.1038/s41590-024-01779-z.
2023
Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome
Maria Rodrigo Riestra,
Bethany A Pillay,
Mathijs Willemsen,
Verena Kienapfel,
Lisa Ehlers,
Selket Delafontaine,
Antoine Pinton,
Marjon Wouters,
Anneleen Hombrouck,
Kate Sauer,
Xavier Bossuyt,
Arnout Voet,
Stefaan J Soenen,
Cecilia Dominguez Conde,
Giorgia Bucciol,
Kaan Boztug,
Stephanie Humblet-Baron,
Aurore Touzart,
Frédéric Rieux-Laucat,
Luigi D Notarangelo,
Leen Moens,
Isabelle Meyts.
J Clin Immunol. 2023 Dec 15;44(1):2. doi: 10.1007/s10875-023-01627-z.
