| TOM, Le Voyer, Audrey V PARENT, Xian LIU, Axel CEDERHOLM, Adrian GERVAIS, Jeremie 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 SOUDEE, Melanie MIGAUD, Flore ROZENBERG, Mana MOMENILANDI, Quentin RILLER, Luisa IMBERTI, Ottavia M DELMONTE, Gabriele MUELLER, 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, Catriona MCLEAN, Aurelien GUFFROY, Joseph L DERISI, David YU, Corey MILLER, Yi FENG, Audrey GUICHARD, Vivien BEZIAT, Jacinta BUSTAMANTE, Qiang PAN-HAMMARSTROM, Yu ZHANG, Lindsey B ROSEN, Steve M HOLLAND, Marita BOSTICARDO, Heather KENNEY, Riccardo CASTAGNOLI, Charlotte A SLADE, Kaan BOZTUG, 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, Amelie SERVETTAZ, Vincent BARLOGIS, Le Guenno GUILLAUME, Vera-Maria HERRMANN, Taco KUIJPERS, Gregoire DUCOUX, Francoise SARROT-REYNAULD, Catharina SCHUETZ, Charlotte CUNNINGHAM-RUNDLES, Frederic 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, Aurelie COBAT, Emmanuelle JOUANGUY, Olle KAMPE, Paul BASTARD, Chaim M ROIFMAN, Nils LANDEGREN, Luigi D NOTARANGELO, Mark S ANDERSON, Jean-Laurent CASANOVA a Anne PUEL. Autoantibodies against type I IFNs in humans with alternative NF-.B pathway deficiency. Nature. BERLIN: NATURE PORTFOLIO, 2023, roč. 623, č. 7988, s. 803-829. ISSN 0028-0836. Dostupné z: https://dx.doi.org/10.1038/s41586-023-06717-x. |
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@article{2385397,
author = {Tom, Le Voyer and Parent, Audrey V and Liu, Xian and Cederholm, Axel and Gervais, Adrian and Rosain, Jeremie and Nguyen, Tina and Lorenzo, Malena Perez and Rackaityte, Elze and Rinchai, Darawan and Zhang, Peng and Bizien, Lucy and Hancioglu, Gonca and GhillaniandDalbin, Pascale and Charuel, JeanandLuc and Philippot, Quentin and Gueye, Mame Sokhna and Renkilaraj, Majistor Raj Luxman Maglorius and Ogishi, Masato and Soudee, Camille and Migaud, Melanie and Rozenberg, Flore and Momenilandi, Mana and Riller, Quentin and Imberti, Luisa and Delmonte, Ottavia M and Mueller, Gabriele and Keller, Baerbel and Orrego, Julio and Gallego, William Alexander Franco and Rubin, Tamar and Emiroglu, Melike and Parvaneh, Nima and Eriksson, Daniel and ArandaandGuillen, Maribel and Berrios, David I and Vong, Linda and Katelaris, Constance H and Mustillo, Peter and Raedler, Johannes and Bohlen, Jonathan and Celik, Jale Bengi and Astudillo, Camila and Winter, Sarah and McLean, Catriona and Guffroy, Aurelien and DeRisi, Joseph L and Yu, David and Miller, Corey and Feng, Yi and Guichard, Audrey and Beziat, Vivien and Bustamante, Jacinta and PanandHammarstrom, 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 Boztug, 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 PinzonandCharry, 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, Amelie and Barlogis, Vincent and Guillaume, Le Guenno and Herrmann, VeraandMaria and Kuijpers, Taco and Ducoux, Gregoire and SarrotandReynauld, Francoise and Schuetz, Catharina and CunninghamandRundles, Charlotte and RieuxandLaucat, Frederic 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 Assant, Sophie Trouillet and Su, Helen and Neven, Benedicte and Abel, Laurent and Zhang, Qian and Boisson, Bertrand and Cobat, Aurelie 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, JeanandLaurent and Puel, Anne},
article_location = {BERLIN},
article_number = {7988},
doi = {http://dx.doi.org/10.1038/s41586-023-06717-x},
keywords = {NF-κB pathway deficiency; I IFNs},
language = {eng},
issn = {0028-0836},
journal = {Nature},
title = {Autoantibodies against type I IFNs in humans with alternative NF-.B pathway deficiency},
url = {https://www.nature.com/articles/s41586-023-06717-x},
volume = {623},
year = {2023}
}
TY - JOUR
ID - 2385397
AU - Tom, Le Voyer - Parent, Audrey V - Liu, Xian - Cederholm, Axel - Gervais, Adrian - Rosain, Jeremie - Nguyen, Tina - Lorenzo, Malena Perez - Rackaityte, Elze - Rinchai, Darawan - Zhang, Peng - Bizien, Lucy - Hancioglu, Gonca - Ghillani-Dalbin, Pascale - Charuel, Jean-Luc - Philippot, Quentin - Gueye, Mame Sokhna - Renkilaraj, Majistor Raj Luxman Maglorius - Ogishi, Masato - Soudee, Camille - Migaud, Melanie - Rozenberg, Flore - Momenilandi, Mana - Riller, Quentin - Imberti, Luisa - Delmonte, Ottavia M - Mueller, 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, Constance H - Mustillo, Peter - Raedler, Johannes - Bohlen, Jonathan - Celik, Jale Bengi - Astudillo, Camila - Winter, Sarah - McLean, Catriona - Guffroy, Aurelien - DeRisi, Joseph L - Yu, David - Miller, Corey - Feng, Yi - Guichard, Audrey - Beziat, Vivien - Bustamante, Jacinta - Pan-Hammarstrom, Qiang - Zhang, Yu - Rosen, Lindsey B - Holland, Steve M - Bosticardo, Marita - Kenney, Heather - Castagnoli, Riccardo - Slade, Charlotte A - Boztug, Kaan - Mahlaoui, Nizar - Latour, Sylvain - Abraham, Roshini S - Lougaris, Vassilios - Hauck, Fabian - Sediva, Anna - Atschekzei, Faranaz - Sogkas, Georgios - Poli, M Cecilia - Slatter, Mary A - Palterer, Boaz - Keller, Michael D - Pinzon-Charry, Alberto - Sullivan, Anna - Droney, Luke - Suan, Daniel - Wong, Melanie - Kane, Alisa - Hu, Hannah - Ma, Cindy - Grombiříková, Hana - Ciznar, Peter - Dalal, Ilan - Aladjidi, Nathalie - Hie, Miguel - Lazaro, Estibaliz - Franco, Jose - Keles, Sevgi - Malphettes, Marion - Pasquet, Marlene - Maccari, Maria Elena - Meinhardt, Andrea - Ikinciogullari, Aydan - Shahrooei, Mohammad - Celmeli, Fatih - Frosk, Patrick - Goodnow, Christopher C - Gray, Paul E - Belot, Alexandre - Kuehn, Hye Sun - Rosenzweig, Sergio D - Miyara, Makoto - Licciardi, Francesco - Servettaz, Amelie - Barlogis, Vincent - Guillaume, Le Guenno - Herrmann, Vera-Maria - Kuijpers, Taco - Ducoux, Gregoire - Sarrot-Reynauld, Francoise - Schuetz, Catharina - Cunningham-Rundles, Charlotte - Rieux-Laucat, Frederic - Tangye, Stuart G - Sobacchi, Cristina - Doffinger, Rainer - Warnatz, Klaus - Grimbacher, Bodo - Fieschi, Claire - Berteloot, Laureline - Bryant, Vanessa L - Assant, Sophie Trouillet - Su, Helen - Neven, Benedicte - Abel, Laurent - Zhang, Qian - Boisson, Bertrand - Cobat, Aurelie - Jouanguy, Emmanuelle - Kampe, Olle - Bastard, Paul - Roifman, Chaim M - Landegren, Nils - Notarangelo, Luigi D - Anderson, Mark S - Casanova, Jean-Laurent - Puel, Anne
PY - 2023
TI - Autoantibodies against type I IFNs in humans with alternative NF-.B pathway deficiency
JF - Nature
VL - 623
IS - 7988
SP - 803-829
EP - 803-829
PB - NATURE PORTFOLIO
SN - 00280836
KW - NF-κB pathway deficiency
KW - I IFNs
UR - https://www.nature.com/articles/s41586-023-06717-x
N2 - 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.
ER -
TOM, Le Voyer, Audrey V PARENT, Xian LIU, Axel CEDERHOLM, Adrian GERVAIS, Jeremie 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 SOUDEE, Melanie MIGAUD, Flore ROZENBERG, Mana MOMENILANDI, Quentin RILLER, Luisa IMBERTI, Ottavia M DELMONTE, Gabriele MUELLER, 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, Catriona MCLEAN, Aurelien GUFFROY, Joseph L DERISI, David YU, Corey MILLER, Yi FENG, Audrey GUICHARD, Vivien BEZIAT, Jacinta BUSTAMANTE, Qiang PAN-HAMMARSTROM, Yu ZHANG, Lindsey B ROSEN, Steve M HOLLAND, Marita BOSTICARDO, Heather KENNEY, Riccardo CASTAGNOLI, Charlotte A SLADE, Kaan BOZTUG, 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, Amelie SERVETTAZ, Vincent BARLOGIS, Le Guenno GUILLAUME, Vera-Maria HERRMANN, Taco KUIJPERS, Gregoire DUCOUX, Francoise SARROT-REYNAULD, Catharina SCHUETZ, Charlotte CUNNINGHAM-RUNDLES, Frederic 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, Aurelie COBAT, Emmanuelle JOUANGUY, Olle KAMPE, Paul BASTARD, Chaim M ROIFMAN, Nils LANDEGREN, Luigi D NOTARANGELO, Mark S ANDERSON, Jean-Laurent CASANOVA a Anne PUEL. Autoantibodies against type I IFNs in humans with alternative NF-.B pathway deficiency. \textit{Nature}. BERLIN: NATURE PORTFOLIO, 2023, roč.~623, č.~7988, s.~803-829. ISSN~0028-0836. Dostupné z: https://dx.doi.org/10.1038/s41586-023-06717-x.
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