Publications
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.
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.
