Impaired thymic AIRE expression underlies autoantibodies against type I IFNs in humans with inborn errors of the alternative NF-kB pathway

Autor: Tom Le Voyer, Adrian Gervais, Jérémie Rosain, Audrey Parent, Axel Cederholm, Darawan Rinchai, Lucy Bizien, Gonca Hancioglu, 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 Delmonte, Gabriele Müller, Bärbel Keller, Julio Orrego, William Alexander Gallego, Tamar Rubin, Melike Emiroglu, Nima Parvaneh, Daniel Eriksson, Maribel Aranda-Guillen, David I Berrios, Linda Vong, Connie H Katelaris, Peter Mustillo, Johannes Rädler, Jonathan Bohlen, Jale Bengi Celik, Camila Astudillo, Sarah Winter, Audrey Guichard, Vivien Béziat, Jacinta Bustamante, Qiang Pan-Hammarström, Yu Zhang, Lindsey B Rosen, Steve M Holland, Heather Kenney, Kaan Boztuğ, Nizar Mahlaoui, Sylvain Latour, Roshini Abraham, Vassilios Lougaris, Fabian Hauck, Anna Sediva, Faranaz Atschekzei, M Cecilia Poli, Mary A Slatter, Boaz Palterer, Michael D Keller, Alberto Pinzon-Charry, Anna Sullivan, Luke Droney, Daniel Suan, Nathalie Aladjidi, Miguel Hie, Estibaliz Lazaro, Jose Franco, Sevgi Keles, Marion Malphette, 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, 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 Bryant, Sophie Trouillet Assant, Luigi D Notarangelo, Helen Su, Benedicte Neven, Laurent Abel, Qian Zhang, Bertrand Boisson, Aurélie Cobat, Emmanuelle Jouanguy, Olle Kampe, Paul Bastard, Chaim Roifman, Nils Landegren, Mark S Anderson, Jean-Laurent Casanova, Anne Puel

Patients with inborn errors of the alternative NF-κB pathway have low thymic AIRE expression, leading to the development of auto-Abs neutralizing type I IFNs, and severe viral diseases.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::eb3fe31795f551fbeac7e72b123ffd53
https://doi.org/10.22541/au.167330741.18394805/v1

Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiency

Autor: Mehmet C. Catak, Bengu Akcam, Sevgi Bilgic Eltan, Royala Babayeva, Ibrahim S. Karakus, Gamze Akgun, Dilek Baser, Alper Bulutoglu, Feyza Bayram, Nurhan Kasap, Ayca Kiykim, Gonca Hancioglu, Sefika I. Kokcu Karadag, Yasemin kendir Demirkol, Selime Ozen, Sukru Cekic, Dilek Ozcan, Neslihan Edeer Karaca, Ayse S. Sasihuseyinoglu, Murat Cansever, Esra Ozek Yucel, Zeynep Tamay, Derya U. Altintas, Cigdem Aydogmus, Fatih Celmeli, Haluk Cokugras, Nesrin Gulez, Ferah Genel, Ayse Metin, Sukru N. Guner, Necil Kutukculer, Sevgi Keles, Ismail Reisli, Sara S. Kilic, Alisan Yildiran, Elif Karakoc‐Aydiner, Bernice Lo, Ahmet Ozen, Safa Baris

© 2022 EAACI and John Wiley and Sons A/S. Published by John Wiley and Sons Ltd.Background: Lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency and cytotoxic T-lymphocyte protein-4 (CTLA-4) insufficiency are recently described d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90d0b7664b5951635514430e6e5152d4
https://hdl.handle.net/11424/289151

Multiplex PCR-Based Newborn Screening for Severe T and B-Cell Lymphopenia: The first Pilot Study in Turkey

Autor: Seyhan, Kutlug, Medine, Karadag Alpaslan, Gonca, Hancioglu, Sariye, Elif Ozyazici Ozkan, Didem, Cemile Yesilirmak, Hasan, Bulut, Canan, Aygun, Gonul, Ogur, Alisan, Yildiran

Publikováno v: Sisli Etfal Hastanesi tip bulteni. 55(4)

Severe combined immunodeficiency disease (SCID), non-SCID T-cell lymphopenia, and other primary immunodeficiency diseases with T-cell and B-cell lymphopenia have low the T-cell-receptor-excision circles (TRECs) and κ-deleting-recombination-excision

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95c824b58ab6ae7b420b31b869b25a39
https://pubmed.ncbi.nlm.nih.gov/35317378

Pediatrik Kütanöz Larva Migrans Olgusu

Autor: Fadıl Öztürk, Gonca Hancioglu, Şefika İlknur Kökçü Karadağ

Publikováno v: Journal of Pediatric Infection. 14:161-163

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3dd98090573382601cd19e7148e96d60
https://doi.org/10.5578/ced.69487

Management of subglottic hemangioma with propranolol

Autor: Sinan Atmaca, Mehmet Halil Çeliksoy, Recep Sancak, Muhammet Sukru Paksu, Gonca Hancioglu

Publikováno v: American journal of otolaryngology. 35(3)

WOS: 000335934100028 PubMed: 24602457 Subglottic hemangioma is a rare but life- threatening condition which requires intervention. It generally starts proliferating in the first and second months of lifespan and whether there is a respiration problem

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a879c5a080bfc609c83c74612199ec30
https://pubmed.ncbi.nlm.nih.gov/24602457