Publications
2023
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
Tom Le Voyer,
Audrey V Parent,
Xian Liu,
Axel Cederholm,
Adrian Gervais,
Jérémie Rosain,
Tina Nguyen,
Malena Perez Lorenzo,
Elze Rackaityte,
Darawan Rinchai,
Peng Zhang,
Lucy Bizien,
Gonca Hancioglu,
Pascale Ghillani-Dalbin,
Jean-Luc Charuel,
Quentin Philippot,
Mame Sokhna Gueye,
Majistor Raj Luxman Maglorius Renkilaraj,
Masato Ogishi,
Camille Soudée,
Mélanie Migaud,
Flore Rozenberg,
Mana Momenilandi,
Quentin Riller,
Luisa Imberti,
Ottavia M Delmonte,
Gabriele Müller,
Baerbel Keller,
Julio Orrego,
William Alexander Franco Gallego,
Tamar Rubin,
Melike Emiroglu,
Nima Parvaneh,
Daniel Eriksson,
Maribel Aranda-Guillen,
David I Berrios,
Linda Vong,
Constance H Katelaris,
Peter Mustillo,
Johannes Raedler,
Jonathan Bohlen,
Jale Bengi Celik,
Camila Astudillo,
Sarah Winter,
NF-κB Consortium,
COVID Human Genetic Effort,
Catriona McLean,
Aurélien Guffroy,
Joseph L DeRisi,
David Yu,
Corey Miller,
Yi Feng,
Audrey Guichard,
Vivien Béziat,
Jacinta Bustamante,
Qiang Pan-Hammarström,
Yu Zhang,
Lindsey B Rosen,
Steve M Holland,
Marita Bosticardo,
Heather Kenney,
Riccardo Castagnoli,
Charlotte A Slade,
Kaan Boztuğ,
Nizar Mahlaoui,
Sylvain Latour,
Roshini S Abraham,
Vassilios Lougaris,
Fabian Hauck,
Anna Sediva,
Faranaz Atschekzei,
Georgios Sogkas,
M Cecilia Poli,
Mary A Slatter,
Boaz Palterer,
Michael D Keller,
Alberto Pinzon-Charry,
Anna Sullivan,
Luke Droney,
Daniel Suan,
Melanie Wong,
Alisa Kane,
Hannah Hu,
Cindy Ma,
Hana Grombiříková,
Peter Ciznar,
Ilan Dalal,
Nathalie Aladjidi,
Miguel Hie,
Estibaliz Lazaro,
Jose Franco,
Sevgi Keles,
Marion Malphettes,
Marlene Pasquet,
Maria Elena Maccari,
Andrea Meinhardt,
Aydan Ikinciogullari,
Mohammad Shahrooei,
Fatih Celmeli,
Patrick Frosk,
Christopher C Goodnow,
Paul E Gray,
Alexandre Belot,
Hye Sun Kuehn,
Sergio D Rosenzweig,
Makoto Miyara,
Francesco Licciardi,
Amélie Servettaz,
Vincent Barlogis,
Guillaume Le Guenno,
Vera-Maria Herrmann,
Taco Kuijpers,
Grégoire Ducoux,
Françoise Sarrot-Reynauld,
Catharina Schuetz,
Charlotte Cunningham-Rundles,
Frédéric Rieux-Laucat,
Stuart G Tangye,
Cristina Sobacchi,
Rainer Doffinger,
Klaus Warnatz,
Bodo Grimbacher,
Claire Fieschi,
Laureline Berteloot,
Vanessa L Bryant,
Sophie Trouillet Assant,
Helen Su,
Benedicte Neven,
Laurent Abel,
Qian Zhang,
Bertrand Boisson,
Aurélie Cobat,
Emmanuelle Jouanguy,
Olle Kampe,
Paul Bastard,
Chaim M Roifman,
Nils Landegren,
Luigi D Notarangelo,
Mark S Anderson,
Jean-Laurent Casanova,
Anne Puel.
Nature. 2023 Nov;623(7988):803-813. doi: 10.1038/s41586-023-06717-x. Epub 2023 Nov 8.
2023
Novel CARMIL2 (RLTPR) Mutation Presenting with Hyper-IgE and Eosinophilia: A Case Report
Raha Zamani,
Samaneh Zoghi,
Sepideh Shahkarami,
Simin Seyedpour,
Raúl Jimenez Heredia,
Kaan Boztug,
Nima Rezaei.
Endocr Metab Immune Disord Drug Targets. 2024;24(5):596-605. doi: 10.2174/0118715303263327230922043929.
2023
Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre
Betul Karaatmaca,
Deniz Cagdas,
Saliha Esenboga,
Baran Erman,
Cagman Tan,
Tuba Turul Ozgur,
Kaan Boztug,
Mirjam van der Burg,
Ozden Sanal,
Ilhan Tezcan.
Clin Exp Immunol. 2024 Feb 7;215(2):160-176. doi: 10.1093/cei/uxad110.
2023
Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases
Jakob Berner,
Cheryl van de Wetering,
Raul Jimenez Heredia,
Christina Rashkova,
Sacha Ferdinandusse,
Janet Koster,
Johannes G Weiss,
Alexandra Frohne,
Sarah Giuliani,
Hans R Waterham,
Irinka Castanon,
Jürgen Brunner,
Kaan Boztug.
J Allergy Clin Immunol. 2023 Oct;152(4):1025-1031.e2. doi: 10.1016/j.jaci.2023.06.013. Epub 2023 Jun 25.
2023
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency
Jana Block,
Christina Rashkova,
Irinka Castanon,
Samaneh Zoghi,
Jessica Platon,
Rico C Ardy,
Mitsuhiro Fujiwara,
Beatriz Chaves,
Rouven Schoppmeyer,
Caspar I van der Made,
Raul Jimenez Heredia,
Frederike L Harms,
Samin Alavi,
Laia Alsina,
Paula Sanchez Moreno,
Rainiero Ávila Polo,
Rocío Cabrera-Pérez,
Sevgi Kostel Bal,
Laurène Pfajfer,
Bernhard Ransmayr,
Anna-Katharina Mautner,
Ryohei Kondo,
Anna Tinnacher,
Michael Caldera,
Michael Schuster,
Cecilia Domínguez Conde,
René Platzer,
Elisabeth Salzer,
Thomas Boyer,
Han G Brunner,
Judith E Nooitgedagt-Frons,
Estíbaliz Iglesias,
Angela Deyà-Martinez,
Marisol Camacho-Lovillo,
Jörg Menche,
Christoph Bock,
Johannes B Huppa,
Winfried F Pickl,
Martin Distel,
Jeffrey A Yoder,
David Traver,
Karin R Engelhardt,
Tobias Linden,
Leo Kager,
J Thomas Hannich,
Alexander Hoischen,
Sophie Hambleton,
Sabine Illsinger,
Lydie Da Costa,
Kerstin Kutsche,
Zahra Chavoshzadeh,
Jaap D van Buul,
Jordi Antón,
Joan Calzada-Hernández,
Olaf Neth,
Julien Viaud,
Akihiko Nishikimi,
Loïc Dupré,
Kaan Boztug.
N Engl J Med. 2023 Aug 10;389(6):527-539. doi: 10.1056/NEJMoa2210054. Epub 2023 Jun 21.
2023
Screening Newborns for Low T Cell Receptor Excision Circles (TRECs) Fails to Detect Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome
Olga Staudacher,
Jeanette Klein,
Stephanie Thee,
Jan Ullrich,
Volker Wahn,
Nadine Unterwalder,
Uwe Kölsch,
Erwin Lankes,
Anna Stittrich,
Cinzia Dedieu,
Sarah Dinges,
Mirjam Völler,
Catharina Schuetz,
Johannes Schulte,
Kaan Boztug,
Christian Meisel,
Jörn-Sven Kuehl,
Renate Krüger,
Oliver Blankenstein,
Horst von Bernuth.
J Allergy Clin Immunol Pract. 2023 Sep;11(9):2872-2883. doi: 10.1016/j.jaip.2023.06.006. Epub 2023 Jun 9.
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.
