Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines
Nicholas Hernandez,Giorgia Bucciol,Leen Moens,Jérémie Le Pen,Mohammad Shahrooei,Ekaterini Goudouris,Afshin Shirkani,Majid Changi-Ashtiani,Hassan Rokni-Zadeh,Esra Hazar Sayar,Ismail Reisli,Alain Lefevre-Utile,Dick Zijlmans,Andrea Jurado,Ruben Pholien,Scott Drutman,Serkan Belkaya,Aurélie Cobat,Robbert Boudewijns,Dirk Jochmans,Johan Neyts,Yoann Seeleuthner,Yoann Seeleuthner,Lazaro Lorenzo-Diaz,Lazaro Lorenzo-Diaz,Chibuzo U Enemchukwu,Ian Tietjen,Hans Heinrich Hoffmann,Mana Momenilandi,Laura Pöyhönen,Marilda M. Siqueira,Sheila Maria Barbosa de Lima,Denise Cristina de Souza Matos,Akira Homma,Maria de Lourdes de Sousa Maia,Tamiris Azamor da Costa Barros,Patrícia Mouta Nunes de Oliveira,Emersom Ciclini Mesquita,Rik Gijsbers,Shen-Ying Zhang,Shen-Ying Zhang,Shen-Ying Zhang,Stephen J. Seligman,Stephen J. Seligman,Laurent Abel,Laurent Abel,Laurent Abel,Paul J. Hertzog,Nico Marr,Nico Marr,Reinaldo de Menezes Martins,Isabelle Meyts,Isabelle Meyts,Qian Zhang,Margaret R. MacDonald,Charles M. Rice,Jean-Laurent Casanova,Emmanuelle Jouanguy,Emmanuelle Jouanguy,Emmanuelle Jouanguy,Xavier Bossuyt +60 more
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TLDR
Two unrelated patients with inherited IFNAR1 deficiency who suffered from life-threatening infections following measles or yellow fever virus vaccination and were otherwise healthy are described.Abstract:
Vaccination against measles, mumps, and rubella (MMR) and yellow fever (YF) with live attenuated viruses can rarely cause life-threatening disease. Severe illness by MMR vaccines can be caused by inborn errors of type I and/or III interferon (IFN) immunity (mutations in IFNAR2, STAT1, or STAT2). Adverse reactions to the YF vaccine have remained unexplained. We report two otherwise healthy patients, a 9-yr-old boy in Iran with severe measles vaccine disease at 1 yr and a 14-yr-old girl in Brazil with viscerotropic disease caused by the YF vaccine at 12 yr. The Iranian patient is homozygous and the Brazilian patient compound heterozygous for loss-of-function IFNAR1 variations. Patient-derived fibroblasts are susceptible to viruses, including the YF and measles virus vaccine strains, in the absence or presence of exogenous type I IFN. The patients' fibroblast phenotypes are rescued with WT IFNAR1 Autosomal recessive, complete IFNAR1 deficiency can result in life-threatening complications of vaccination with live attenuated measles and YF viruses in previously healthy individuals.read more
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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Qian Zhang,Paul Bastard,Paul Bastard,Zhiyong Liu,Jérémie Le Pen,Marcela Moncada-Vélez,Jie Chen,Masato Ogishi,Ira K. D. Sabli,Stephanie Hodeib,Cecilia B. Korol,Jérémie Rosain,Jérémie Rosain,Kaya Bilguvar,Junqiang Ye,Alexandre Bolze,Benedetta Bigio,Rui Yang,Andrés Augusto Arias,Andrés Augusto Arias,Qinhua Zhou,Yu Zhang,Fanny Onodi,Sarantis Korniotis,Léa Karpf,Quentin Philippot,Quentin Philippot,Marwa Chbihi,Marwa Chbihi,Lucie Bonnet-Madin,Karim Dorgham,Nikaïa Smith,William M. Schneider,Brandon S. Razooky,Hans-Heinrich Hoffmann,Eleftherios Michailidis,Leen Moens,Ji Eun Han,Lazaro Lorenzo,Lazaro Lorenzo,Lucy Bizien,Lucy Bizien,Philip Meade,Anna-Lena Neehus,Anna-Lena Neehus,Aileen Camille Ugurbil,Aurélien Corneau,Gaspard Kerner,Gaspard Kerner,Peng Zhang,Franck Rapaport,Yoann Seeleuthner,Yoann Seeleuthner,Jeremy Manry,Jeremy Manry,Cécile Masson,Yohann Schmitt,Agatha Schlüter,Tom Le Voyer,Tom Le Voyer,Taushif Khan,Juan Li,Jacques Fellay,Jacques Fellay,Lucie Roussel,Mohammad Shahrooei,Mohammed F. Alosaimi,Davood Mansouri,Haya Al-Saud,Fahd Al-Mulla,Feras M. Almourfi,Saleh Al-Muhsen,Fahad Alsohime,Saeed Al Turki,Rana Hasanato,Diederik van de Beek,Andrea Biondi,Laura Rachele Bettini,Mariella D'Angiò,Paolo Bonfanti,Luisa Imberti,Alessandra Sottini,Simone Paghera,Eugenia Quiros-Roldan,Camillo Rossi,Andrew J. Oler,Miranda F. Tompkins,Camille Alba,Isabelle Vandernoot,Jean-Christophe Goffard,Guillaume Smits,Isabelle Migeotte,Filomeen Haerynck,Pere Soler-Palacín,Andrea Martín-Nalda,Roger Colobran,Pierre-Emmanuel Morange,Sevgi Keles,Fatma Çölkesen,Tayfun Ozcelik,Kadriye Kart Yaşar,Sevtap Şenoğlu,Şemsi Nur Karabela,Carlos Rodríguez-Gallego,Giuseppe Novelli,Sami Hraiech,Yacine Tandjaoui-Lambiotte,Xavier Duval,Xavier Duval,Cédric Laouénan,Cédric Laouénan,Covid-Storm Clinicians§,Covid Clinicians,CoV-Contact Cohort§,CoV-Contact Cohort§,Amsterdam Umc Covid Biobank,Covid Human Genetic Effort,Niaid-Usuhs,Niaid-Usuhs,Niaid-Usuhs,Andrew L. Snow,Clifton L. Dalgard,Joshua D. Milner,Donald C. Vinh,Donald C. Vinh,Trine H. Mogensen,Trine H. Mogensen,Nico Marr,András N Spaan,András N Spaan,András N Spaan,Bertrand Boisson,Bertrand Boisson,Bertrand Boisson,Stéphanie Boisson-Dupuis,Jacinta Bustamante,Jacinta Bustamante,Jacinta Bustamante,Anne Puel,Michael J. Ciancanelli,Isabelle Meyts,Tom Maniatis,Vassili Soumelis,Ali Amara,Ali Amara,Michel C. Nussenzweig,Adolfo García-Sastre,Florian Krammer,Aurora Pujol,Darragh Duffy,Darragh Duffy,Richard P. Lifton,Richard P. Lifton,Richard P. Lifton,Shen-Ying Zhang,Guy Gorochov,Guy Gorochov,Guy Gorochov,Vivien Béziat,Vivien Béziat,Vivien Béziat,Emmanuelle Jouanguy,Vanessa Sancho-Shimizu,Charles M. Rice,Charles M. Rice,Charles M. Rice,Laurent Abel,Luigi D. Notarangelo,Luigi D. Notarangelo,Luigi D. Notarangelo,Aurélie Cobat,Helen C. Su,Jean-Laurent Casanova +172 more
TL;DR: The COVID Human Genetic Effort established to test the general hypothesis that life-threatening COVID-19 in some or most patients may be caused by monogenic inborn errors of immunity to SARS-CoV-2 with incomplete or complete penetrance finds an enrichment in variants predicted to be loss-of-function (pLOF), with a minor allele frequency <0.001.
Journal ArticleDOI
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee
Stuart G. Tangye,Waleed Al-Herz,Aziz Bousfiha,Talal A. Chatila,Charlotte Cunningham-Rundles,Amos Etzioni,José Luis Franco,Steven M. Holland,Christoph Klein,Tomohiro Morio,Hans D. Ochs,Eric Oksenhendler,Capucine Picard,Jennifer M. Puck,Troy R. Torgerson,Jean-Laurent Casanova,Kathleen E. Sullivan +16 more
TL;DR: This report documents the key clinical and laboratory features of 430 inborn errors of immunity, including 64 gene defects that have either been discovered in the past 2 years since the previous update (published January 2018) or were characterized earlier but have since been confirmed or expanded upon in subsequent studies.
Journal ArticleDOI
An immune-based biomarker signature is associated with mortality in COVID-19 patients.
Michael S. Abers,Ottavia M. Delmonte,Emily Ricotta,Jonathan Fintzi,Danielle Fink,Adriana Almeida de Jesus,Kol A. Zarember,Sara Alehashemi,Vasileios Oikonomou,Jigar V. Desai,Scott W. Canna,Bita Shakoory,Kerry Dobbs,Luisa Imberti,Alessandra Sottini,Eugenia Quiros-Roldan,Francesco Castelli,Camillo Rossi,Duilio Brugnoni,Andrea Biondi,Laura Rachele Bettini,Mariella D'Angiò,Paolo Bonfanti,Riccardo Castagnoli,Daniela Montagna,Amelia Licari,Gian Luigi Marseglia,Emily F. Gliniewicz,Elana Shaw,Dana Kahle,Andre Rastegar,Michael Stack,Katherine Myint-Hpu,Susan L Levinson,Mark J. DiNubile,Daniel W. Chertow,Peter D. Burbelo,Jeffrey I. Cohen,Katherine R. Calvo,John S. Tsang,Helen C. Su,John I. Gallin,Douglas B. Kuhns,Raphaela Goldbach-Mansky,Michail S. Lionakis,Luigi D. Notarangelo +45 more
TL;DR: Levels of sST2, sTNFRSF1A, IL-10, and IL-15 were consistently higher throughout the hospitalization in patients who died versus those who recovered, suggesting that these biomarkers may provide an early warning of eventual disease outcome.
Journal ArticleDOI
Human genetic and immunological determinants of critical COVID-19 pneumonia
Qian Zhang,Paul Bastard,Adem Karbuz,A Gervais,Ahmad N. Abou Tayoun,Alessandro Aiuti,Alexandre Belot,Alexandre Bolze,Alexandre Gaudet,Anastasiia Bondarenko,Zhiyong Liu,András N Spaan,Andrea Guennoun,Andrés Augusto Arias,A. Planas,Anna Sediva,Anna Shcherbina,Anna-Lena Neehus,Anne Puel,Antoine Froidure,Antonio Novelli,Aslınur Özkaya Parlakay,Aurora Pujol,Aysun Yahşi,Belgin Gülhan,Benedetta Bigio,Bertrand Boisson,Beth A. Drolet,Carlos Andrés Arango Franco,Carlos Flores,Carlos Rodríguez-Gallego,Carolina Prando,Catherine M. Biggs,Charles-Edouard Luyt,Clifton L. Dalgard,Cliona O'Farrelly,Daniela Matuozzo,David Dalmau,David S. Perlin,Davood Mansouri,Diederik van de Beek,Donald C. Vinh,Elena Domínguez-Garrido,Elena W Y Hsieh,Emine Hafize Erdeniz,Emmanuelle Jouanguy,Esra Şevketoğlu,Estelle Talouarn,Eugenia Quiros-Roldan,Evangelos Andreakos,Eystein S. Husebye,Fahad Alsohime,Filomeen Haerynck,Giorgio Casari,G. Novelli,Gokhan Aytekın,Guillaume Morelle,Gülsüm Alkan,Gülsüm İclal Bayhan,Hagit Baris Feldman,Helen C. Su,Horst von Bernuth,Igor Resnick,Ingrid G Bustos,Isabelle Meyts,Isabelle Migeotte,Ivan Tancevski,Jacinta Bustamante,Jacques Fellay,Jamila El Baghdadi,Javier Martinez-Picado,Jérémie Rosain,Jeremy Manry,Jie Chen,John Christodoulou,J. B. Bohlen,José Luis Franco,Juan Li,Juan-Manuel Anaya,Julian Castaño Rojas,Junqiang Ye,K. M. Furkan Uddin,Kadriye Kart Yaşar,Kai Kisand,Keisuke Okamoto,Khalil Chaïbi,K. Mironska,László Maródi,Laurent Abel,Laurent Rénia,Lazaro Lorenzo,Lennart Hammarström,Lisa F. P. Ng,Lluis Quintana-Murci,Lucía Victoria Erazo,Luigi D. Notarangelo,Luis F. Reyes,Luis M. Allende,Luisa Imberti,Majistor Raj Luxman Maglorius Renkilaraj,Marcela Moncada-Vélez,Marie Materna,Mark E. Anderson,Marta Gut,Marwa Chbihi,Masato Ogishi,Melike Emiroglu,Mikko Seppänen,Mohammed Jasim Uddin,Mohammed Shahrooei,Natalie Carter Alexander,Nevin Hatipoğlu,Nico Marr,Nihal Akçay,Oksana Boyarchuk,Ondrej Slaby,O Akcan,Peng Zhang,Pere Soler-Palacín,Peter K. Gregersen,Petter Brodin,Pierre Garçon,Pierre-Emmanuel Morange,Qiang Pan-Hammarström,Qinhua Zhou,Quentin Philippot,Rabih Halwani,Rebeca Pérez de Diego,Romain Lévy,Rui-Fu Yang,Şadiye Kübra Tüter Öz,Saleh Al Muhsen,Saliha Kanık-Yüksek,Sara Elva Espinosa-Padilla,Sathishkumar Ramaswamy,Satoshi Okada,Sefika Elmas Bozdemir,Selma Erol Aytekin,Şemsi Nur Karabela,Sevgi Keles,Sevtap Şenoğlu,Shen-ying Zhang,Sotirija Duvlis,Stefan N. Constantinescu,Stéphanie Boisson-Dupuis,Stuart E. Turvey,Stuart G. Tangye,Takaki Asano,Tayfun Ozcelik,Tom Le Voyer,Tom Maniatis,Tomohiro Morio,Trine H. Mogensen,Vanessa Sancho-Shimizu,Vivien Béziat,Xavier Solanich,Yenan T. Bryceson,Y.L. Lau,Yuval Itan,Aurélie Cobat,Jean-Laurent Casanova +160 more
TL;DR: In this article , the molecular and cellular determinants of critical COVID-19 pneumonia were reviewed and the TLR3- and TLR7-dependent production of type I interferons by respiratory epithelial cells and plasmacytoid dendritic cells, respectively, is essential for host defence against SARS-CoV-2 infection.
Journal ArticleDOI
Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1.
Paul Bastard,Paul Bastard,Paul Bastard,Elizaveta Orlova,Leila S. Sozaeva,Romain Lévy,Romain Lévy,Alyssa James,Monica M. Schmitt,Sebastian Ochoa,Maria Kareva,Yulia Rodina,Adrian Gervais,Adrian Gervais,Tom Le Voyer,Tom Le Voyer,Jérémie Rosain,Jérémie Rosain,Quentin Philippot,Quentin Philippot,Anna-Lena Neehus,Anna-Lena Neehus,Elana Shaw,Mélanie Migaud,Lucy Bizien,Olov Ekwall,Stefan Berg,Guglielmo Beccuti,Lucia Ghizzoni,Gérard Thiriez,Arthur Pavot,Cécile Goujard,Marie-Louise Frémond,Edwin Carter,Anya Rothenbuhler,Agnès Linglart,Brigite Mignot,Aurélie Comte,Nathalie Cheikh,Olivier Hermine,Lars Breivik,Eystein S. Husebye,Eystein S. Husebye,Eystein S. Husebye,Sébastien Humbert,Pierre Rohrlich,Alain Coaquette,Fanny Vuoto,Karine Faure,Nizar Mahlaoui,Primož Kotnik,Primož Kotnik,Tadej Battelino,Tadej Battelino,Katarina Trebušak Podkrajšek,Katarina Trebušak Podkrajšek,Kai Kisand,Elise M. N. Ferré,Thomas DiMaggio,Lindsey B. Rosen,Peter D. Burbelo,Martin Mcintyre,Nelli Y Kann,Anna Shcherbina,Maria Pavlova,Anna Kolodkina,Steven M. Holland,Shen-Ying Zhang,Shen-Ying Zhang,Shen-Ying Zhang,Yanick J. Crow,Yanick J. Crow,Luigi D. Notarangelo,Helen C. Su,Laurent Abel,Laurent Abel,Laurent Abel,Mark S. Anderson,Emmanuelle Jouanguy,Emmanuelle Jouanguy,Emmanuelle Jouanguy,Bénédicte Neven,Anne Puel,Anne Puel,Anne Puel,Jean-Laurent Casanova,Michail S. Lionakis +86 more
TL;DR: In this paper, the authors report 22 APS-1 patients from 21 kindreds in seven countries, aged between 8 and 48 yr and infected with SARS-CoV-2 since February 2020.
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