Publications
2023
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient
Negar Moradian,
Samaneh Zoghi,
Elham Rayzan,
Simin Seyedpour,
Raul Jimenez Heredia,
Kaan Boztug,
Nima Rezaei.
Allergy Asthma Clin Immunol. 2023 Jun 9;19(1):51. doi: 10.1186/s13223-023-00804-4.
2023
Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis
Sevgi Kostel Bal,
Sarah Giuliani,
Jana Block,
Peter Repiscak,
Christoph Hafemeister,
Tala Shahin,
Nurhan Kasap,
Bernhard Ransmayr,
Yirun Miao,
Cheryl van de Wetering,
Alexandra Frohne,
Raul Jimenez Heredia,
Michael Schuster,
Samaneh Zoghi,
Vanessa Hertlein,
Marini Thian,
Aleksandr Bykov,
Royala Babayeva,
Sevgi Bilgic Eltan,
Elif Karakoc-Aydiner,
Lisa E Shaw,
Iftekhar Chowdhury,
Markku Varjosalo,
Rafael J Argüello,
Matthias Farlik,
Ahmet Ozen,
Edgar Serfling,
Loïc Dupré,
Christoph Bock,
Florian Halbritter,
J Thomas Hannich,
Irinka Castanon,
Michael J Kraakman,
Safa Baris,
Kaan Boztug.
Blood. 2023 Aug 31;142(9):827-845. doi: 10.1182/blood.2022018303.
2023
Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease
Antti Tallgren,
Leo Kager,
Gina O'Grady,
Hannu Tuominen,
Jarmo Körkkö,
Outi Kuismin,
Martha Feucht,
Callum Wilson,
Jana Behunova,
Eleina England,
Mitja I Kurki,
Aarno Palotie,
Mikko Hallman,
Riitta Kaarteenaho,
Franco Laccone,
Kaan Boztug,
Reetta Hinttala,
Johanna Uusimaa.
Front Neurosci. 2023 Apr 27;17:1123327. doi: 10.3389/fnins.2023.1123327. eCollection 2023.
2023
Polymerase-δ-deficiency as a novel cause of inborn cancer predisposition associated with human papillomavirus infection
Johanna Strobl,
Bettina Huber,
Raul Jimenez Heredia,
Reinhard Kirnbauer,
Kaan Boztug,
Georg Stary.
Br J Dermatol. 2023 Apr 20;188(5):684-685. doi: 10.1093/bjd/ljad021.
2022
Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature
Mazdak Fallahi,
Mahnaz Jamee,
Javad Enayat,
Fahimeh Abdollahimajd,
Mehrnaz Mesdaghi,
Maliheh Khoddami,
Anna Segarra-Roca,
Alexandra Frohne,
Jasmin Dmytrus,
Mohammad Keramatipour,
Mahboubeh Mansouri,
Golnaz Eslamian,
Shahrzad Fallah,
Kaan Boztug,
Zahra Chavoshzadeh.
Allergy Asthma Clin Immunol. 2022 Dec 24;18(1):111. doi: 10.1186/s13223-022-00749-0.
2022
Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine deaminase 2 deficiency
Enrico Drago,
Francesca Garbarino,
Sara Signa,
Alice Grossi,
Francesca Schena,
Federica Penco,
Elettra Santori,
Fabio Candotti,
Kaan Boztug,
Stefano Volpi,
Marco Gattorno,
Roberta Caorsi.
Front Immunol. 2022 Sep 9;13:937108. doi: 10.3389/fimmu.2022.937108. eCollection 2022.
2022
T-cell/histiocyte-rich large B-cell lymphoma in a patient with a novel frameshift MSH6 mutation
Sukru Cekic,
Firdevs Aydin,
Yasin Karali,
Betül Berrin Sevinir,
Ozlem Canoz,
Kaan Boztug,
Ekrem Unal,
Sara Sebnem Kilic.
Pediatr Blood Cancer. 2023 Mar;70(3):e30008. doi: 10.1002/pbc.30008. Epub 2022 Sep 24.
2022
Human repair-related Schwann cells adopt functions of antigen-presenting cells in vitro
Jakob Berner,
Tamara Weiss,
Helena Sorger,
Fikret Rifatbegovic,
Max Kauer,
Reinhard Windhager,
Alexander Dohnal,
Peter F Ambros,
Inge M Ambros,
Kaan Boztug,
Peter Steinberger,
Sabine Taschner-Mandl.
Glia. 2022 Dec;70(12):2361-2377. doi: 10.1002/glia.24257. Epub 2022 Aug 17.
2022
Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor
Fiona Poyer,
Raúl Jimenez Heredia,
Wolfgang Novak,
Petra Zeitlhofer,
Karin Nebral,
Michael N Dworzak,
Oskar A Haas,
Kaan Boztug,
Leo Kager.
Front Immunol. 2022 Jun 24;13:869047. doi: 10.3389/fimmu.2022.869047. eCollection 2022.
2021
Immunologically relevant aspects of the new COVID-19 vaccines-an ÖGAI (Austrian Society for Allergology and Immunology) and AeDA (German Society for Applied Allergology) position paper.
Untersmayr E,
Förster-Waldl E,
Bonelli M,
Boztug K,
Brunner PM,
Eiwegger T,
Eller K,
Göschl L,
Grabmeier-Pfistershammer K,
Hötzenecker W,
Jordakieva G,
Moschen AR,
Pfaller B,
Pickl W,
Reinisch W,
Wiedermann U,
Klimek L,
Bergmann KC,
Brehler R,
Pfützner W,
Novak N,
Merk H,
Rabe U,
Schlenter W,
Ring J,
Wehrmann W,
Mülleneisen N,
Wrede H,
Fuchs T,
Jensen-Jarolim E.
Allergo J Int. 2021;30(5):155-168. doi: 10.1007/s40629-021-00178-2. Epub 2021 Jun 18.
