Scopus Eşleşmesi Bulundu
44
Atıf
623
Cilt
803-813
Sayfa
🔓
Açık Erişim
Scopus Yazarları: Audrey V. Parent, Peng Zhang, Majistor Raj Luxman Maglorius Renkilaraj, Gabriele Müller, Saleh Zaid Al-Muhsen, Hagit Baris Feldman, Alessandro Borghesi, Filomeen Haerynck, Lennart Hammarström, Elena W.Y. Hsieh, Elżbieta Kaja, Kai Kisand, Yun Ling, Antonio Novelli, Adrian Gervais, Quentin Philippot, Mame Sokhna Gueye, Masato Ogishi, Mélanie Migaud, Ottavia M. Delmonte, Constance H. Katelaris, Camila Astudillo, Sarah Winter, Stéphanie Boisson-Dupuis, Eric Oksenhendler, Geoffroy Lafarge, Tomas Freiberger, Alessandro Aiuti, Andrés Augusto Arias, Anastasiia Bondarenko, Ahmed A. Bousfiha, Yenan T. Bryceson, John Christodoulou, Antonio Condino-Neto, Carlos Flores, Yuval Itan, Isabelle Meyts, Trine H. Mogensen, Giuseppe Novelli, Carolina Prando, Laurent Renia, Axel Cederholm, Jérémie Rosain, Tina Nguyen, Malena Perez Lorenzo, Elze Rackaityte, Jean Luc Charuel, Camille Soudee, Flore Rozenberg, Mana Momenilandi, Quentin Riller, Baerbel Keller, Tamar Rubin, Jale Bengi Celik, Satoshi Okada, Oana Caluseriu, Carlos A. Arango-Franco, Fahd Al-Mulla, Paul Bastard, Petter Brodin, Yu Lung Lau, Tayfun Ozcelik, Igor Resnick, Tom Le Voyer, Xian Liu, Darawan Rinchai, Lucy Bizien, Gonca Hancioglu, Pascale Ghillani-Dalbin, Luisa Imberti, Julio Orrego, William Alexander Franco Gallego, Melike Emiroglu, Nima Parvaneh, Daniel Eriksson, Maribel Aranda-Guillen, David I. Berrios, Linda Vong, Peter Mustillo, Johannes Raedler, Jonathan Bohlen, Mathilde Valeria Ursini, Eric Ballot, Romain Lévy, Evangelos Andreakos, Giorgio Casari, Roger Colobran, Jacques Fellay, Jose Luis Franco, Rabih Halwani, James R. Heath, Cheng Lung Ku, Davood Mansouri, Joshua D. Milner, Keisuke Okamoto, Rebeca Pérez de Diego, Jordi Perez-Tur, David S. Perlin, Aurora Pujol, Lluis Quintana-Murci
Özet
Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I interferons (IFNs)1,2, conferring a predisposition to life-threatening COVID-19 pneumonia3. Here we report that patients with autosomal recessive NIK or RELB deficiency, or a specific type of autosomal-dominant NF-κB2 deficiency, also have neutralizing autoantibodies against type I IFNs and are at higher risk of getting life-threatening COVID-19 pneumonia. In patients with autosomal-dominant NF-κB2 deficiency, these autoantibodies are found only in individuals who are heterozygous for variants associated with both transcription (p52 activity) loss of function (LOF) due to impaired p100 processing to generate p52, and regulatory (IκBδ activity) gain of function (GOF) due to the accumulation of unprocessed p100, therefore increasing the inhibitory activity of IκBδ (hereafter, p52LOF/IκBδGOF). By contrast, neutralizing autoantibodies against type I IFNs are not found in individuals who are heterozygous for NFKB2 variants causing haploinsufficiency of p100 and p52 (hereafter, p52LOF/IκBδLOF) or gain-of-function of p52 (hereafter, p52GOF/IκBδLOF). In contrast to patients with APS-1, patients with disorders of NIK, RELB or NF-κB2 have very few tissue-specific autoantibodies. However, their thymuses have an abnormal structure, with few AIRE-expressing medullary thymic epithelial cells. Human inborn errors of the alternative NF-κB pathway impair the development of AIRE-expressing medullary thymic epithelial cells, thereby underlying the production of autoantibodies against type I IFNs and predisposition to viral diseases.
Makale Bilgileri
Dergi
Nature
ISSN
0028-0836
Yıl
2023
/ 11. ay
Cilt / Sayı
623
Makale Türü
Özgün Makale
Hakemlik
Hakemli
Endeks
SCI-Expanded
JCR Quartile
Q1
Yayın Dili
İngilizce
Kapsam
Uluslararası
Toplam Yazar
224 kişi
Erişim Türü
Basılı+Elektronik
Erişim Linki
Makaleye Git
Alan
Sağlık Bilimleri Temel Alanı
Tıbbi Genetik
YÖKSİS Yazar Kaydı
Yazar Adı
Le Voyer Tom, Parent Audrey V., Liu Xian, Cederholm Axel, Gervais Adrian, Rosain Jérémie, Nguyen Tina, Lorenzo Malena Perez, Rackaityte Elze, Rinchai Darawan, Zhang Peng, Bizie Lucy, Hancioglu Gonca, Ghillani-Dalbin Pascale, Charuel Jean-Luc, Philippot Quentin, Gueye Mame Sokhna, Renkilaraj Majistor Raj Luxman Maglorius, Ogishi Masato, Soudée Camille, Migaud Mélanie, Rozenberg Flore, Momenilandi Mana, Riller Quentin, Imberti Luisa, Delmonte Ottavia M., Müller Gabriele, Keller Baerbel, Orrego Julio, Gallego William Alexander Franco, Rubin Tamar, Emiroglu Melike, Parvaneh Nima, Eriksson Daniel, Aranda-Guillen Maribel, Berrios David I., Vong Linda, Katelaris Connie H., Mustillo Peter, Rädler Johannes, Bohlen Jonathan, Celik Jale Bengi, Astudillo Camila, Winter Sarah, Abel Laurent, Aiuti Alessandro, Al-Muhsen Saleh, Al-Mulla Fahd, Anderson Mark S, Andreako Evangelos, Arias Andrés A., Feldman Hagit Baris, Bustard Paul, Belot Alexandre, Bondarenko Anastasia, Borghesi Alessandro, Bousfiha Ahmed A., Brodin Petter, Bryceson Yenan, Casanova Jean-Laurent, Casari Giorgio, Christodoulou John, Cobat Aurélie, Colobran Roger, Condino-Neto Antonio, Fellay Jacques, Flores Carlos, Franco José Luis, Grimbache Bodo, Haerynck Filomeen, Halwani Rabih, Hammarström Lennart, Heath James R., Hsieh Elena W. Y., Itan Yuval, Jouanguy Emmanuelle, Kaja Elżbieta, Kisand Kai, Ku Cheng-Lung, Ling Yun, Lau Yu-Lung, Mansouri Davood, Mansouri Davood, Meyts Isabelle, Milner Joshua D., Mogensen Trine H., Notarangelo Luigi D., Novelli Antonio, Novelli Giuseppe, Okada Satoshi, Okamoto Keisuke, Ozcelik Tayfun, Pan-Hammarström Qiang, Perez de Diego Rebeca, Perez-Tur Jordi, Perlin David S., Prando Carolina, Puel Anne, Pujol Aurora, Quintana-Murci Lluis, Renia Laurent, Resnick Igor, Rodríguez-Gallego Carlos, Sancho-Shimizu Vanessa, Sediva Anna, Seppänen Mikko R. J., Shahrooei Mohammed, Shcherbina Anna, Palacín Pere Soler, Pesole Graziano, Spaan András N., Su Helen C., Tancevski Ivan, Tangye Stuart G., Abou Tayoun Ahmad, Amara Ali, Gorochov Guy, TEMEL ŞEHİME GÜLSÜN, Thorball Christian, Tiberghien Pierre, Trouillet-Assant Sophie, Turvey Stuart, Uddin K. M. Furkan, Uddin Mohammed J., van de Beek Diederik, Midigal Mateus, Vinh Donald C., Bernuth Horst von, Wauters Joost, Zatz Mayana, Zhang Qian, Zhang Shen-Ying
YÖKSİS ID
7368141
Hızlı Erişim
Metrikler
Scopus Atıf
44
JCR Quartile
Q1
Yazar Sayısı
224