Publications
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.
2022
Case Report of a Novel NFkB Mutation in a Lymphoproliferative Disorder Patient
Khashayar Danandeh,
Parnian Jabbari,
Elham Rayzan,
Samaneh Zoghi,
Sepideh Shahkarami,
Raul Jimenez Heredia,
Ana Krolo,
Bibi Shahin Shamsian,
Kaan Boztug,
Nima Rezaei.
Endocr Metab Immune Disord Drug Targets. 2022;22(10):1040-1046. doi: 10.2174/1871530322666220407091356.
2022
Chronic or severe enteropathy and immunodeficiency: be prepared for a rara avis
Katrin Weber,
Yvonne Zeißig,
Cornelie Haag,
Renate Schmelz,
Julia Pazmandi,
Artem Kalinichenko,
Kaan Boztug,
Sebastian Zeißig,
Daniela Aust,
Martin W Laass,
Catharina Schuetz.
Z Gastroenterol. 2022 Nov;60(11):1668-1677. doi: 10.1055/a-1709-5024. Epub 2022 Mar 16.
2022
Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency
Naz Surucu Yilmaz,
Sevgi Bilgic Eltan,
Basak Kayaoglu,
Busranur Geckin,
Raul Jimenez Heredia,
Asena Pinar Sefer,
Ayca Kiykim,
Ercan Nain,
Nurhan Kasap,
Omer Dogru,
Ayse Deniz Yucelten,
Leyla Cinel,
Gulsun Karasu,
Akif Yesilipek,
Betul Sozeri,
Goksu Gokberk Kaya,
Ismail Cem Yilmaz,
Ilayda Baydemir,
Yagmur Aydin,
Deniz Cansen Kahraman,
Matthias Haimel,
Kaan Boztug,
Elif Karakoc-Aydiner,
Ihsan Gursel,
Ahmet Ozen,
Safa Baris,
Mayda Gursel.
J Clin Immunol. 2022 Apr;42(3):582-596. doi: 10.1007/s10875-021-01176-3. Epub 2022 Jan 14.
2022
Author Correction: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice
Lin Wang,
Dominik Aschenbrenner,
Zhiyang Zeng,
Xiya Cao,
Daniel Mayr,
Meera Mehta,
Melania Capitani,
Neil Warner,
Jie Pan,
Liren Wang,
Qi Li,
Tao Zuo,
Sarit Cohen-Kedar,
Jiawei Lu,
Rico Chandra Ardy,
Daniel J Mulder,
Dilan Dissanayake,
Kaiyue Peng,
Zhiheng Huang,
Xiaoqin Li,
Yuesheng Wang,
Xiaobing Wang,
Shuchao Li,
Samuel Bullers,
Anís N Gammage,
Klaus Warnatz,
Ana-Iris Schiefer,
Gergely Krivan,
Vera Goda,
Walter H A Kahr,
Mathieu Lemaire,
Genomics England Research Consortium,
Chien-Yi Lu,
Iram Siddiqui,
Michael G Surette,
Daniel Kotlarz,
Karin R Engelhardt,
Helen R Griffin,
Robert Rottapel,
Hélène Decaluwe,
Ronald M Laxer,
Michele Proietti,
Sophie Hambleton,
Suzanne Elcombe,
Cong-Hui Guo,
Bodo Grimbacher,
Iris Dotan,
Siew C Ng,
Spencer A Freeman,
Scott B Snapper,
Christoph Klein,
Kaan Boztug,
Ying Huang,
Dali Li,
Holm H Uhlig,
Aleixo M Muise.
Nat Genet. 2022 Feb;54(2):213. doi: 10.1038/s41588-021-00998-6.
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.
