@article{01JPAPPTCEN1TS20B78ND7HGYG,
  abstract     = {{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-.B2 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-.B2 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 (I.Bd activity) gain of function (GOF) due to the accumulation of unprocessed p100, therefore increasing the inhibitory activity of I.Bd (hereafter, p52LOF/I.BdGOF). 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/ I.BdLOF) or gain-of-function of p52 (hereafter, p52GOF/I.BdLOF). In contrast to patients with APS-1, patients with disorders of NIK, RELB or NF-.B2 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-.B 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.}},
  author       = {{Le Voyer, Tom and Parent, Audrey V. and Liu, Xian and Cederholm, Axel and Gervais, Adrian and Rosain, Jérémie and Nguyen, Tina and Perez Lorenzo, Malena and Rackaityte, Elze and Rinchai, Darawan and Zhang, Peng and Bizien, Lucy and Hancioglu, Gonca and Ghillani-Dalbin, Pascale and Charuel, Jean-Luc and Philippot, Quentin and Gueye, Mame Sokhna and Maglorius Renkilaraj, Majistor Raj Luxman and Ogishi, Masato and Soudée, Camille and Migaud, Mélanie and Rozenberg, Flore and Momenilandi, Mana and Riller, Quentin and Imberti, Luisa and Delmonte, Ottavia M. and Müller, Gabriele and Keller, Baerbel and Orrego, Julio and Franco Gallego, William Alexander and Rubin, Tamar and Emiroglu, Melike and Parvaneh, Nima and Eriksson, Daniel and Aranda-Guillen, Maribel and Berrios, David I. and Vong, Linda and Katelaris, Constance H. and Mustillo, Peter and Raedler, Johannes and Bohlen, Jonathan and Bengi Celik, Jale and Astudillo, Camila and Winter, Sarah and Boisson-Dupuis, Stéphanie and Oksenhendler, Eric and Okada, Satoshi and Caluseriu, Oana and Ursini, Mathilde Valeria and Ballot, Eric and Lafarge, Geoffroy and Freiberger, Tomas and Arango-Franco, Carlos A. and Levy, Romain and Aiuti, Alessandro and Al-Muhsen, Saleh and Al-Mulla, Fahd and Andreakos, Evangelos and Arias, Andrés A. and Feldman, Hagit Baris and Bastard, Paul and Bondarenko, Anastasia and Borghesi, Alessandro and Bousfiha, Ahmed A. and Brodin, Petter and Bryceson, Yenan and Casari, Giorgio and Christodoulou, John and Colobran, Roger and Condino-Neto, Antonio and Fellay, Jacques and Flores, Carlos and Franco, José Luis and Haerynck, Filomeen and Halwani, Rabih and Hammarström, Lennart and Heath, James R. and Hsieh, Elena W. Y. and Itan, Yuval and Kaja, Elżbieta and Kisand, Kai and Ku, Cheng-Lung and Ling, Yun and Lau, Yu-Lung and Mansouri, Davood and Meyts, Isabelle and Milner, Joshua D. and Mogensen, Trine H. and Novelli, Antonio and Novelli, Giuseppe and Okamoto, Keisuke and Ozcelik, Tayfun and de Diego, Rebeca Perez and Perez-Tur, Jordi and Perlin, David S. and Prando, Carolina and Pujol, Aurora and Quintana-Murci, Lluis and Renia, Laurent and Resnick, Igor and Rodríguez-Gallego, Carlos and Sancho-Shimizu, Vanessa and Sediva, Anna and Seppänen, Mikko R. J. and Shahrooei, Mohammed and Shcherbina, Anna and Palacín, Pere Soler and Pesole, Graziano and Spaan, András N. and Su, Helen C. and Tancevski, Ivan and Tayoun, Ahmad Abou and Amara, Ali and Gorochov, Guy and Temel, Şehime Gülsün and Thorball, Christian and Tiberghien, Pierre and Trouillet-Assant, Sophie and Turvey, Stuart and Uddin, K. M. Furkan and Uddin, Mohammed J. and van de Beek, Diederik and Vidigal, Mateus and Vinh, Donald C. and von Bernuth, Horst and Wauters, Joost and Zatz, Mayana and Zhang, Shen-Ying and Ng, Lisa F. P. and McLean, Catriona and Guffroy, Aurélien and DeRisi, Joseph L. and Yu, David and Miller, Corey and Feng, Yi and Guichard, Audrey and Béziat, Vivien and Bustamante, Jacinta and Pan-Hammarström, Qiang and Zhang, Yu and Rosen, Lindsey B. and Holland, Steve M. and Bosticardo, Marita and Kenney, Heather and Castagnoli, Riccardo and Slade, Charlotte A. and Boztuğ, Kaan and Mahlaoui, Nizar and Latour, Sylvain and Abraham, Roshini S. and Lougaris, Vassilios and Hauck, Fabian and Sediva, Anna and Atschekzei, Faranaz and Sogkas, Georgios and Poli, M. Cecilia and Slatter, Mary A. and Palterer, Boaz and Keller, Michael D. and Pinzon-Charry, Alberto and Sullivan, Anna and Droney, Luke and Suan, Daniel and Wong, Melanie and Kane, Alisa and Hu, Hannah and Ma, Cindy and Grombiříková, Hana and Ciznar, Peter and Dalal, Ilan and Aladjidi, Nathalie and Hie, Miguel and Lazaro, Estibaliz and Franco, Jose and Keles, Sevgi and Malphettes, Marion and Pasquet, Marlene and Maccari, Maria Elena and Meinhardt, Andrea and Ikinciogullari, Aydan and Shahrooei, Mohammad and Celmeli, Fatih and Frosk, Patrick and Goodnow, Christopher C. and Gray, Paul E. and Belot, Alexandre and Kuehn, Hye Sun and Rosenzweig, Sergio D. and Miyara, Makoto and Licciardi, Francesco and Servettaz, Amélie and Barlogis, Vincent and Le Guenno, Guillaume and Herrmann, Vera-Maria and Kuijpers, Taco and Ducoux, Grégoire and Sarrot-Reynauld, Françoise and Schuetz, Catharina and Cunningham-Rundles, Charlotte and Rieux-Laucat, Frédéric and Tangye, Stuart G. and Sobacchi, Cristina and Doffinger, Rainer and Warnatz, Klaus and Grimbacher, Bodo and Fieschi, Claire and Berteloot, Laureline and Bryant, Vanessa L. and Trouillet Assant, Sophie and Su, Helen and Neven, Benedicte and Abel, Laurent and Zhang, Qian and Boisson, Bertrand and Cobat, Aurélie and Jouanguy, Emmanuelle and Kampe, Olle and Bastard, Paul and Roifman, Chaim M. and Landegren, Nils and Notarangelo, Luigi D. and Anderson, Mark S. and Casanova, Jean-Laurent and Puel, Anne and NF kB Consortium, [missing] and COVID Human Genetic Effort, [missing]}},
  issn         = {{0028-0836}},
  journal      = {{NATURE}},
  keywords     = {{CHRONIC MUCOCUTANEOUS CANDIDIASIS,THYMIC EPITHELIAL-CELLS,SELF-TOLERANCE,AIRE,ESTABLISHMENT,AUTOIMMUNITY,MUTATIONS,MEDULLA,DISEASE,PATIENT}},
  language     = {{eng}},
  number       = {{7988}},
  pages        = {{803--813}},
  title        = {{Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency}},
  url          = {{http://doi.org/10.1038/s41586-023-06717-x}},
  volume       = {{623}},
  year         = {{2023}},
}

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